Phenotype: Childhood onset (HP:0011463)
Associated genes and diseases:
gene_symbol: CARD9
disease_id: OMIM:212050
disease_name: CANDIDIASIS, FAMILIAL, 2
gene_symbol: MUSK
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: MUSK
disease_id: OMIM:616325
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: CHRNE
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: GFPT1
disease_id: OMIM:608931
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
gene_symbol: GFPT1
disease_id: OMIM:610542
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 12
gene_symbol: POLR3B
disease_id: OMIM:614381
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: POLR3B
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: POLR3B
disease_id: OMIM:619742
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I
gene_symbol: VHL
disease_id: OMIM:263400
disease_name: ERYTHROCYTOSIS, FAMILIAL, 2
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: BBS2
disease_id: OMIM:616562
disease_name: RETINITIS PIGMENTOSA 74
gene_symbol: BBS2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ICOSLG
disease_id: OMIM:620825
disease_name: IMMUNODEFICIENCY 119
gene_symbol: CASK
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
gene_symbol: G6PD
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
gene_symbol: STEAP3
disease_id: OMIM:615234
disease_name: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2
gene_symbol: MFN2
disease_id: OMIM:151800
disease_name: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY
gene_symbol: MFN2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MFN2
disease_id: OMIM:617087
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B
gene_symbol: MFN2
disease_id: OMIM:601152
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY
gene_symbol: KCNJ11
disease_id: OMIM:616329
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13
gene_symbol: KCNJ11
disease_id: OMIM:610582
disease_name: DIABETES MELLITUS, TRANSIENT NEONATAL, 3
gene_symbol: PDK3
disease_id: OMIM:300905
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6
gene_symbol: CAPN3
disease_id: OMIM:253600
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1
gene_symbol: CAPN3
disease_id: OMIM:618129
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
gene_symbol: HCN4
disease_id: OMIM:163800
disease_name: SICK SINUS SYNDROME 2
gene_symbol: MEFV
disease_id: OMIM:249100
disease_name: FAMILIAL MEDITERRANEAN FEVER
gene_symbol: MEFV
disease_id: OMIM:608068
disease_name: NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE
gene_symbol: SRP54
disease_id: OMIM:618752
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT
gene_symbol: PDXK
disease_id: OMIM:618511
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY
gene_symbol: PTPRQ
disease_id: OMIM:617663
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 73
gene_symbol: MARS1
disease_id: OMIM:615486
disease_name: INTERSTITIAL LUNG AND LIVER DISEASE
gene_symbol: PDGFB
disease_id: OMIM:615483
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
gene_symbol: PDGFB
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: KCNT1
disease_id: OMIM:615005
disease_name: EPILEPSY, NOCTURNAL FRONTAL LOBE, 5
gene_symbol: ATP1A2
disease_id: OMIM:619605
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98
gene_symbol: ATP1A2
disease_id: OMIM:104290
disease_name: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
gene_symbol: POLD1
disease_id: OMIM:620836
disease_name: IMMUNODEFICIENCY 120
gene_symbol: ATP1A3
disease_id: OMIM:619606
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99
gene_symbol: ATP1A3
disease_id: OMIM:128235
disease_name: DYSTONIA 12
gene_symbol: ATP1A3
disease_id: OMIM:601338
disease_name: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: PEPD
disease_id: OMIM:170100
disease_name: PROLIDASE DEFICIENCY
gene_symbol: ZFYVE19
disease_id: OMIM:619849
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9
gene_symbol: NFKB1
disease_id: OMIM:616576
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 12
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: GON7
disease_id: OMIM:619603
disease_name: GALLOWAY-MOWAT SYNDROME 9
gene_symbol: DGKE
disease_id: OMIM:615008
disease_name: NEPHROTIC SYNDROME, TYPE 7
gene_symbol: CTNNBL1
disease_id: OMIM:619846
disease_name: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS
gene_symbol: SBF2
disease_id: OMIM:604563
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: GNPTAB
disease_id: OMIM:252600
disease_name: MUCOLIPIDOSIS III ALPHA/BETA
gene_symbol: MYH7
disease_id: OMIM:160500
disease_name: MYOPATHY, DISTAL, 1
gene_symbol: MYH7
disease_id: OMIM:608358
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT
gene_symbol: MYH7
disease_id: OMIM:613426
disease_name: CARDIOMYOPATHY, DILATED, 1S
gene_symbol: WDR62
disease_id: OMIM:604317
disease_name: MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS
gene_symbol: SGCD
disease_id: OMIM:601287
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6
gene_symbol: CFTR
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: FCGR2A
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: TGFB1
disease_id: OMIM:219700
disease_name: CYSTIC FIBROSIS
gene_symbol: SOX18
disease_id: OMIM:607823
disease_name: HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME
gene_symbol: STAT1
disease_id: OMIM:614162
disease_name: IMMUNODEFICIENCY 31C
gene_symbol: STAT1
disease_id: OMIM:614892
disease_name: IMMUNODEFICIENCY 31A
gene_symbol: ADAR
disease_id: OMIM:615010
disease_name: AICARDI-GOUTIERES SYNDROME 6
gene_symbol: COL2A1
disease_id: OMIM:616583
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
gene_symbol: COL2A1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: UBTF
disease_id: OMIM:617672
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
gene_symbol: REEP2
disease_id: OMIM:620606
disease_name: SPASTIC PARAPLEGIA 72B, AUTOSOMAL RECESSIVE
gene_symbol: REEP2
disease_id: OMIM:615625
disease_name: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE
gene_symbol: ZNF644
disease_id: OMIM:614167
disease_name: MYOPIA 21, AUTOSOMAL DOMINANT
gene_symbol: ZNF644
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IRF7
disease_id: OMIM:616345
disease_name: IMMUNODEFICIENCY 39
gene_symbol: RDH11
disease_id: OMIM:616108
disease_name: RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME
gene_symbol: RDH11
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ARL6
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: ARL6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CCDC28B
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AFG2B
disease_id: OMIM:619615
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 119
gene_symbol: IMPDH1
disease_id: OMIM:180105
disease_name: RETINITIS PIGMENTOSA 10
gene_symbol: IMPDH1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CYP27B1
disease_id: OMIM:264700
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A
gene_symbol: SCO2
disease_id: OMIM:608908
disease_name: MYOPIA 6
gene_symbol: SCO2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: DMXL2
disease_id: OMIM:616113
disease_name: POLYENDOCRINE-POLYNEUROPATHY SYNDROME
gene_symbol: SNX14
disease_id: OMIM:616354
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
gene_symbol: MPIG6B
disease_id: OMIM:617441
disease_name: THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS
gene_symbol: EXPH5
disease_id: OMIM:615028
disease_name: EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE
gene_symbol: NDST1
disease_id: OMIM:616116
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
gene_symbol: CRYM
disease_id: OMIM:616357
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 40
gene_symbol: PADI3
disease_id: OMIM:191480
disease_name: UNCOMBABLE HAIR SYNDROME 1
gene_symbol: RTN2
disease_id: OMIM:620854
disease_name: OMIM:620854
gene_symbol: TBCE
disease_id: OMIM:617207
disease_name: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
gene_symbol: MYO5B
disease_id: OMIM:619868
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10
gene_symbol: PMM2
disease_id: OMIM:212065
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia
gene_symbol: KERA
disease_id: OMIM:217300
disease_name: CORNEA PLANA 2, AUTOSOMAL RECESSIVE
gene_symbol: CYP2U1
disease_id: OMIM:615030
disease_name: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
gene_symbol: PDE6C
disease_id: OMIM:613093
disease_name: CONE DYSTROPHY 4
gene_symbol: PDE6C
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TECPR2
disease_id: OMIM:615031
disease_name: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
gene_symbol: DNAH9
disease_id: OMIM:618300
disease_name: CILIARY DYSKINESIA, PRIMARY, 40
gene_symbol: KCNA2
disease_id: OMIM:616366
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32
gene_symbol: IL11RA
disease_id: OMIM:614188
disease_name: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
gene_symbol: PKHD1
disease_id: OMIM:263200
disease_name: POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: DDHD2
disease_id: OMIM:615033
disease_name: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE
gene_symbol: F13A1
disease_id: OMIM:188050
disease_name: THROMBOPHILIA DUE TO THROMBIN DEFECT
gene_symbol: F2
disease_id: OMIM:188050
disease_name: THROMBOPHILIA DUE TO THROMBIN DEFECT
gene_symbol: HABP2
disease_id: OMIM:188050
disease_name: THROMBOPHILIA DUE TO THROMBIN DEFECT
gene_symbol: MTHFR
disease_id: OMIM:188050
disease_name: THROMBOPHILIA DUE TO THROMBIN DEFECT
gene_symbol: PRKG2
disease_id: OMIM:619638
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE
gene_symbol: PRKG2
disease_id: OMIM:619636
disease_name: ACROMESOMELIC DYSPLASIA 4
gene_symbol: RHOH
disease_id: OMIM:618307
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4
gene_symbol: CWF19L1
disease_id: OMIM:616127
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
gene_symbol: CASQ2
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: CASQ2
disease_id: OMIM:611938
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2
gene_symbol: TRDN
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: TRDN
disease_id: OMIM:615441
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS
gene_symbol: RYR2
disease_id: OMIM:604772
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY
gene_symbol: IGHM
disease_id: OMIM:601495
disease_name: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
gene_symbol: MAP2K2
disease_id: OMIM:615280
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 4
gene_symbol: WHRN
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NR2F1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: VCAN
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ABCA4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ABCA4
disease_id: OMIM:604116
disease_name: CONE-ROD DYSTROPHY 3
gene_symbol: OPN1SW
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KCNJ13
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KIZ
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GUCA1B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPS1
disease_id: OMIM:311070
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5
gene_symbol: CHM
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CHM
disease_id: OMIM:303100
disease_name: CHOROIDEREMIA
gene_symbol: GPR179
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRIT3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRIT3
disease_id: OMIM:615058
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F
gene_symbol: OFD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OFD1
disease_id: OMIM:300424
disease_name: RETINITIS PIGMENTOSA 23
gene_symbol: CNNM4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF31
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PCARE
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP78
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP78
disease_id: OMIM:617236
disease_name: CONE-ROD DYSTROPHY AND HEARING LOSS 1
gene_symbol: DHX38
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DHX38
disease_id: OMIM:618220
disease_name: RETINITIS PIGMENTOSA 84
gene_symbol: AMACR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TMEM126A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRIM32
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CRB1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CRB1
disease_id: OMIM:600105
disease_name: RETINITIS PIGMENTOSA 12
gene_symbol: CRB1
disease_id: OMIM:613835
disease_name: LEBER CONGENITAL AMAUROSIS 8
gene_symbol: GUCA1A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CTNNA1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RBP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RBP4
disease_id: OMIM:615147
disease_name: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
gene_symbol: RP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MKS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AHR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRAF3IP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF8
disease_id: OMIM:600059
disease_name: RETINITIS PIGMENTOSA 13
gene_symbol: ARL2BP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ARL3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CABP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MYO7A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ALMS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRNT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRNT1
disease_id: OMIM:616959
disease_name: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
gene_symbol: TRNT1
disease_id: OMIM:616084
disease_name: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
gene_symbol: LZTFL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: FAM161A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC19A2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC19A2
disease_id: OMIM:249270
disease_name: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
gene_symbol: GNB3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNB3
disease_id: OMIM:617024
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H
gene_symbol: CYP4V2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GUCY2D
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GUCY2D
disease_id: OMIM:601777
disease_name: CONE-ROD DYSTROPHY 6
gene_symbol: KIF11
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRDM13
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DHDDS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CACNA1F
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ELOVL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CA4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBIP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RPE65
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RPE65
disease_id: OMIM:613794
disease_name: RETINITIS PIGMENTOSA 20
gene_symbol: DHX40
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IQCB1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RIMS2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: P4HA2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ABHD12
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ABHD12
disease_id: OMIM:612674
disease_name: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT
gene_symbol: EFEMP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: EFEMP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: CEP19
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TULP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRCD
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NPHP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BCOR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ZNF513
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC7A14
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC7A14
disease_id: OMIM:615725
disease_name: RETINITIS PIGMENTOSA 68
gene_symbol: PPT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNAT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: FLVCR1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: FLVCR1
disease_id: OMIM:609033
disease_name: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
gene_symbol: MAK
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SDCCAG8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TREX1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TREX1
disease_id: OMIM:610448
disease_name: CHILBLAIN LUPUS 1
gene_symbol: CDH3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CDH3
disease_id: OMIM:601553
disease_name: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
gene_symbol: ADGRA3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KIAA1549
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NMNAT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NMNAT1
disease_id: OMIM:608553
disease_name: LEBER CONGENITAL AMAUROSIS 9
gene_symbol: NEUROD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TMEM237
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRAT
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDZD7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDZD7
disease_id: OMIM:618003
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 57
gene_symbol: USH1C
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP290
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP290
disease_id: OMIM:610189
disease_name: SENIOR-LOKEN SYNDROME 6
gene_symbol: EMC1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GDPD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SEMA4A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OPA1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OPA1
disease_id: OMIM:210000
disease_name: BEHR SYNDROME
gene_symbol: OPA1
disease_id: OMIM:125250
disease_name: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
gene_symbol: TMEM67
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MERTK
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MERTK
disease_id: OMIM:613862
disease_name: RETINITIS PIGMENTOSA 38
gene_symbol: MKKS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ESPN
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: WDR19
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: WDR19
disease_id: OMIM:616307
disease_name: SENIOR-LOKEN SYNDROME 8
gene_symbol: WDR19
disease_id: OMIM:614377
disease_name: NEPHRONOPHTHISIS 13
gene_symbol: ADIPOR1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TTPA
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SF3B2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADGRV1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADGRV1
disease_id: OMIM:604352
disease_name: FEBRILE SEIZURES, FAMILIAL, 4
gene_symbol: ACO2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ACO2
disease_id: OMIM:616289
disease_name: OPTIC ATROPHY 9
gene_symbol: PDE6B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6B
disease_id: OMIM:613801
disease_name: RETINITIS PIGMENTOSA 40
gene_symbol: PEX2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: ATF6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CAPN5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IDH3B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CTSD
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CTSD
disease_id: OMIM:610127
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 10
gene_symbol: IFT81
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT43
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT43
disease_id: OMIM:617871
disease_name: RETINITIS PIGMENTOSA 81
gene_symbol: DYNC2H1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NPHP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HMCN1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: USH1G
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OTX2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RAB28
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RAB28
disease_id: OMIM:615374
disease_name: CONE-ROD DYSTROPHY 18
gene_symbol: BBS12
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KCNV2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TEAD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MTRFR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MTRFR
disease_id: OMIM:613559
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
gene_symbol: IMPG2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IMPG2
disease_id: OMIM:613581
disease_name: RETINITIS PIGMENTOSA 56
gene_symbol: MFSD8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: JAG1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: JAG1
disease_id: OMIM:619574
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH
gene_symbol: SMG8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGA3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGA3
disease_id: OMIM:216900
disease_name: ACHROMATOPSIA 2
gene_symbol: CACNA2D4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PEX7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: USH2A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ARR3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRPAP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RTN4IP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RTN4IP1
disease_id: OMIM:616732
disease_name: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
gene_symbol: ABCC6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MAPKAPK3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6G
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6G
disease_id: OMIM:613582
disease_name: RETINITIS PIGMENTOSA 57
gene_symbol: TUBGCP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OAT
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OAT
disease_id: OMIM:258870
disease_name: GYRATE ATROPHY OF CHOROID AND RETINA
gene_symbol: TMEM216
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RP2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RP2
disease_id: OMIM:312600
disease_name: RETINITIS PIGMENTOSA 2
gene_symbol: SLC25A46
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: DTHD1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TIMM8A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TIMM8A
disease_id: OMIM:304700
disease_name: MOHR-TRANEBJAERG SYNDROME
gene_symbol: TUBGCP6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TOPORS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PEX6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KIF3B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KIF3B
disease_id: OMIM:618955
disease_name: RETINITIS PIGMENTOSA 89
gene_symbol: CWC27
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CWC27
disease_id: OMIM:250410
disease_name: RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES
gene_symbol: TTLL5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TTLL5
disease_id: OMIM:615860
disease_name: CONE-ROD DYSTROPHY 19
gene_symbol: FZD4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CPSF1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RAX2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RAX2
disease_id: OMIM:620102
disease_name: RETINITIS PIGMENTOSA 95
gene_symbol: CPLANE1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP250
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: POC1B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: POC1B
disease_id: OMIM:615973
disease_name: CONE-ROD DYSTROPHY 20
gene_symbol: PRIMPOL
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HARS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HARS1
disease_id: OMIM:614504
disease_name: USHER SYNDROME, TYPE IIIB
gene_symbol: RBP3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ALPK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDE6H
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGB3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ZNF423
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AIPL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CLCC1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPH2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TSPAN12
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PLK4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GRK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MTTP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNAT2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TRPM1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NBAS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADAM9
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CC2D2A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HK1
disease_id: OMIM:617460
disease_name: RETINITIS PIGMENTOSA 79
gene_symbol: BBS9
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: USP45
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PAX6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NRL
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TUBB4B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TUBB4B
disease_id: OMIM:617879
disease_name: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS
gene_symbol: LCA5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: P3H2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: P3H2
disease_id: OMIM:614292
disease_name: MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION
gene_symbol: CERKL
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CFAP410
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CFAP410
disease_id: OMIM:602271
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL
gene_symbol: CFAP410
disease_id: OMIM:617547
disease_name: RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA
gene_symbol: PDSS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PDSS1
disease_id: OMIM:614651
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 2
gene_symbol: FOXE3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: FOXE3
disease_id: OMIM:610256
disease_name: ANTERIOR SEGMENT DYSGENESIS 2
gene_symbol: CLRN1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CLRN1
disease_id: OMIM:276902
disease_name: USHER SYNDROME, TYPE IIIA
gene_symbol: SIX6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RD3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ATXN7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: WFS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: WFS1
disease_id: OMIM:614296
disease_name: WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT
gene_symbol: WFS1
disease_id: OMIM:222300
disease_name: WOLFRAM SYNDROME 1
gene_symbol: PGK1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PROM1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PROM1
disease_id: OMIM:612095
disease_name: RETINITIS PIGMENTOSA 41
gene_symbol: RCBTB1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PNPLA6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PNPLA6
disease_id: OMIM:215470
disease_name: BOUCHER-NEUHAUSER SYNDROME
gene_symbol: EXOSC2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RGS9
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RGS9
disease_id: OMIM:608415
disease_name: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION
gene_symbol: CLUAP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: KLHL7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GRM6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GRM6
disease_id: OMIM:257270
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B
gene_symbol: POMGNT1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PAX2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HGSNAT
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HGSNAT
disease_id: OMIM:252930
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIC
gene_symbol: HGSNAT
disease_id: OMIM:616544
disease_name: RETINITIS PIGMENTOSA 73
gene_symbol: CRX
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PHYH
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TTC8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TTC8
disease_id: OMIM:613464
disease_name: RETINITIS PIGMENTOSA 51
gene_symbol: HMX1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PXDN
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IMPG1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: TIMP3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: YPEL2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT27
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ADAMTS18
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: INPP5E
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IDH3A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IDH3A
disease_id: OMIM:619007
disease_name: RETINITIS PIGMENTOSA 90
gene_symbol: IFT140
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: IFT140
disease_id: OMIM:617781
disease_name: RETINITIS PIGMENTOSA 80
gene_symbol: SAMD11
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PANK2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PANK2
disease_id: OMIM:234200
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
gene_symbol: UNC119
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: UNC119
disease_id: OMIM:620342
disease_name: CONE-ROD DYSTROPHY 24
gene_symbol: RP1L1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CFAP418
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CEP164
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PCDH15
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CCT2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GDF6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT172
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: WDPCP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PCYT1A
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: IFT74
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CDHR1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AGBL5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NR2E3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NDP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NDP
disease_id: OMIM:305390
disease_name: EXUDATIVE VITREORETINOPATHY 2, X-LINKED
gene_symbol: RP9
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PRPF6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CIB2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ARSG
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LRP5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: C1QTNF5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC39A5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SAG
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: GNPTG
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SCAPER
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SCAPER
disease_id: OMIM:618195
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
gene_symbol: TUB
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: HCCS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OPA3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PITPNM3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PITPNM3
disease_id: OMIM:600977
disease_name: CONE-ROD DYSTROPHY 5
gene_symbol: SPP2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BMP4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AHI1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SPATA7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CLN3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: VPS13B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: INVS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MVK
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RDH5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ITM2B
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RDH12
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RDH12
disease_id: OMIM:612712
disease_name: LEBER CONGENITAL AMAUROSIS 13
gene_symbol: ABCB6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ABCB6
disease_id: OMIM:615402
disease_name: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
gene_symbol: REEP6
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: REEP6
disease_id: OMIM:617304
disease_name: RETINITIS PIGMENTOSA 77
gene_symbol: CNGB1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CNGA1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MFRP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RIMS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PLA2G5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CDH23
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AFG3L2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: AFG3L2
disease_id: OMIM:614487
disease_name: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
gene_symbol: RPGRIP1L
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LAMA1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ROM1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NYX
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NYX
disease_id: OMIM:310500
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
gene_symbol: SNRNP200
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NPHP3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: NPHP3
disease_id: OMIM:604387
disease_name: NEPHRONOPHTHISIS 3
gene_symbol: CEP41
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RGS9BP
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RGS9BP
disease_id: OMIM:620344
disease_name: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 2
gene_symbol: RHO
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RHO
disease_id: OMIM:610445
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1
gene_symbol: RHO
disease_id: OMIM:613731
disease_name: RETINITIS PIGMENTOSA 4
gene_symbol: NEK2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC4A7
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: COL9A1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: COL11A1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RPGR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RPGR
disease_id: OMIM:300029
disease_name: RETINITIS PIGMENTOSA 3
gene_symbol: ARHGEF18
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: PEX1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RS1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC24A1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SLC24A1
disease_id: OMIM:613830
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D
gene_symbol: VWA8
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: VWA8
disease_id: OMIM:620422
disease_name: RETINITIS PIGMENTOSA 97
gene_symbol: CSPP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RPGRIP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: RPGRIP1
disease_id: OMIM:608194
disease_name: CONE-ROD DYSTROPHY 13
gene_symbol: RPGRIP1
disease_id: OMIM:613826
disease_name: LEBER CONGENITAL AMAUROSIS 6
gene_symbol: RLBP1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ELOVL4
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: FSCN2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: COL9A2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: COL9A2
disease_id: OMIM:614284
disease_name: STICKLER SYNDROME, TYPE V
gene_symbol: COL9A2
disease_id: OMIM:600204
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2
gene_symbol: EYS
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS10
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: SRD5A3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BBS5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: POC5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: OR2W3
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ZNF408
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ZNF408
disease_id: OMIM:616468
disease_name: EXUDATIVE VITREORETINOPATHY 6
gene_symbol: DRAM2
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: CFH
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ASRGL1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MMACHC
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MMACHC
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: RGR
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: BEST1
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: MIR204
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: ACBD5
disease_id: OMIM:180100
disease_name: RETINITIS PIGMENTOSA 1
gene_symbol: LACC1
disease_id: OMIM:618795
disease_name: JUVENILE ARTHRITIS
gene_symbol: COPB2
disease_id: OMIM:619884
disease_name: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY
gene_symbol: DARS1
disease_id: OMIM:615281
disease_name: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
gene_symbol: ZNFX1
disease_id: OMIM:619644
disease_name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
gene_symbol: LAMB2
disease_id: OMIM:614199
disease_name: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
gene_symbol: SLC38A3
disease_id: OMIM:619881
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102
gene_symbol: PPA2
disease_id: OMIM:617222
disease_name: SUDDEN CARDIAC FAILURE, INFANTILE
gene_symbol: CXCR2
disease_id: OMIM:619407
disease_name: WHIM SYNDROME 2
gene_symbol: CAPRIN1
disease_id: OMIM:620636
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE
gene_symbol: CAPRIN1
disease_id: OMIM:620782
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER
gene_symbol: GAS2
disease_id: OMIM:620877
disease_name: OMIM:620877
gene_symbol: PITRM1
disease_id: OMIM:619405
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30
gene_symbol: HYAL1
disease_id: OMIM:601492
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IX
gene_symbol: ATP2A1
disease_id: OMIM:601003
disease_name: BRODY MYOPATHY
gene_symbol: BICD2
disease_id: OMIM:615290
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
gene_symbol: NAXD
disease_id: OMIM:618321
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2
gene_symbol: REL
disease_id: OMIM:619652
disease_name: IMMUNODEFICIENCY 92
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
gene_symbol: FCSK
disease_id: OMIM:618324
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2
gene_symbol: IDS
disease_id: OMIM:309900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE II
gene_symbol: CBLIF
disease_id: OMIM:261000
disease_name: INTRINSIC FACTOR DEFICIENCY
gene_symbol: ALS2
disease_id: OMIM:205100
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
gene_symbol: ALS2
disease_id: OMIM:607225
disease_name: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING
gene_symbol: ALS2
disease_id: OMIM:606353
disease_name: PRIMARY LATERAL SCLEROSIS, JUVENILE
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: RRM1
disease_id: OMIM:620647
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6
gene_symbol: MACF1
disease_id: OMIM:618325
disease_name: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: SMAD2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: MRPL39
disease_id: OMIM:620646
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59
gene_symbol: USP53
disease_id: OMIM:619658
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS
gene_symbol: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
gene_symbol: CLN8
disease_id: OMIM:600143
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 8
gene_symbol: CYBB
disease_id: OMIM:306400
disease_name: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
gene_symbol: KCTD17
disease_id: OMIM:616398
disease_name: DYSTONIA 26, MYOCLONIC
gene_symbol: IGHMBP2
disease_id: OMIM:616155
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
gene_symbol: TMEM38B
disease_id: OMIM:615066
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XIV
gene_symbol: KIF12
disease_id: OMIM:619662
disease_name: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8
gene_symbol: MAD2L2
disease_id: OMIM:617243
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP V
gene_symbol: B4GALNT1
disease_id: OMIM:609195
disease_name: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
gene_symbol: PURA
disease_id: OMIM:616158
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 31
gene_symbol: POLE
disease_id: OMIM:618336
disease_name: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, GENITAL ANOMALIES, AND IMMUNODEFICIENCY
gene_symbol: DDB1
disease_id: OMIM:619426
disease_name: WHITE-KERNOHAN SYNDROME
gene_symbol: RAP1B
disease_id: OMIM:620654
disease_name: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: CASP2
disease_id: OMIM:620653
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY
gene_symbol: KRT1
disease_id: OMIM:620411
disease_name: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, 2
gene_symbol: KRT1
disease_id: OMIM:607654
disease_name: KERATOSIS PALMOPLANTARIS STRIATA III
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: ERCC6
disease_id: OMIM:278800
disease_name: DE SANCTIS-CACCHIONE SYNDROME
gene_symbol: ALAS2
disease_id: OMIM:300751
disease_name: ANEMIA, SIDEROBLASTIC, 1
gene_symbol: ALAS2
disease_id: OMIM:300752
disease_name: PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED
gene_symbol: SGSH
disease_id: OMIM:252900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIA
gene_symbol: BTK
disease_id: OMIM:300755
disease_name: AGAMMAGLOBULINEMIA, X-LINKED
gene_symbol: FGG
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: FGA
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: FGB
disease_id: OMIM:202400
disease_name: AFIBRINOGENEMIA, CONGENITAL
gene_symbol: MCM6
disease_id: OMIM:223100
disease_name: LACTOSE INTOLERANCE, ADULT TYPE
gene_symbol: TCHH
disease_id: OMIM:617252
disease_name: UNCOMBABLE HAIR SYNDROME 3
gene_symbol: DYNC1H1
disease_id: OMIM:158600
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 1, AUTOSOMAL DOMINANT
gene_symbol: CSF3R
disease_id: OMIM:617014
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE
gene_symbol: FANCB
disease_id: OMIM:300514
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP B
gene_symbol: PUS7
disease_id: OMIM:618342
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE
gene_symbol: FTH1
disease_id: OMIM:620669
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9
gene_symbol: NUP54
disease_id: OMIM:620427
disease_name: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS
gene_symbol: INTS11
disease_id: OMIM:620428
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND LANGUAGE DELAY, OCULAR DEFECTS, AND BRAIN ABNORMALITIES
gene_symbol: PYROXD1
disease_id: OMIM:617258
disease_name: MYOPATHY, MYOFIBRILLAR, 8
gene_symbol: NUP133
disease_id: OMIM:618349
disease_name: GALLOWAY-MOWAT SYNDROME 8
gene_symbol: NUP133
disease_id: OMIM:618177
disease_name: NEPHROTIC SYNDROME, TYPE 18
gene_symbol: PLEKHM1
disease_id: OMIM:618107
disease_name: OSTEOPETROSIS, AUTOSOMAL DOMINANT 3
gene_symbol: COQ4
disease_id: OMIM:620666
disease_name: SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE
gene_symbol: COQ4
disease_id: OMIM:616276
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 7
gene_symbol: ERI1
disease_id: OMIM:620662
disease_name: HOXHA-ALIU SYNDROME
gene_symbol: NDRG1
disease_id: OMIM:601455
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
gene_symbol: SNX10
disease_id: OMIM:615085
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8
gene_symbol: KIRREL1
disease_id: OMIM:619201
disease_name: NEPHROTIC SYNDROME, TYPE 23
gene_symbol: PPP2CA
disease_id: OMIM:618354
disease_name: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: RNF170
disease_id: OMIM:619686
disease_name: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE
gene_symbol: MYRF
disease_id: OMIM:618113
disease_name: ENCEPHALITIS/ENCEPHALOPATHY, MILD, WITH REVERSIBLE MYELIN VACUOLIZATION
gene_symbol: EIF2AK2
disease_id: OMIM:619687
disease_name: DYSTONIA 33
gene_symbol: KCNQ1
disease_id: OMIM:192500
disease_name: LONG QT SYNDROME 1
gene_symbol: RNF220
disease_id: OMIM:619688
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY
gene_symbol: RORB
disease_id: OMIM:618357
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15
gene_symbol: STX1B
disease_id: OMIM:616172
disease_name: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
gene_symbol: ATP5MC3
disease_id: OMIM:619681
disease_name: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA
gene_symbol: PRSS12
disease_id: OMIM:249500
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1
gene_symbol: DBR1
disease_id: OMIM:619441
disease_name: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11
gene_symbol: BRWD1
disease_id: OMIM:620438
disease_name: CILIARY DYSKINESIA, PRIMARY, 51
gene_symbol: CACNA1H
disease_id: OMIM:617027
disease_name: HYPERALDOSTERONISM, FAMILIAL, TYPE IV
gene_symbol: CBLB
disease_id: OMIM:620430
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3
gene_symbol: SEC61A1
disease_id: OMIM:620670
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 15
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
gene_symbol: SH2D1A
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: XIAP
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: ASAH1
disease_id: OMIM:159950
disease_name: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY
gene_symbol: ASAH1
disease_id: OMIM:228000
disease_name: FARBER LIPOGRANULOMATOSIS
gene_symbol: MCM3AP
disease_id: OMIM:618124
disease_name: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: ARSK
disease_id: OMIM:619698
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE X
gene_symbol: ATP6AP1
disease_id: OMIM:300972
disease_name: IMMUNODEFICIENCY 47
gene_symbol: FTSJ1
disease_id: OMIM:309549
disease_name: MENTAL RETARDATION, X-LINKED 9
gene_symbol: SLC39A7
disease_id: OMIM:619693
disease_name: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE
gene_symbol: ATP5F1D
disease_id: OMIM:618120
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: KCNC1
disease_id: OMIM:616187
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC 7
gene_symbol: MAP3K14
disease_id: OMIM:620449
disease_name: IMMUNODEFICIENCY 112
gene_symbol: VWA1
disease_id: OMIM:619216
disease_name: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES
gene_symbol: ANO1
disease_id: OMIM:620687
disease_name: MOYAMOYA DISEASE 7
gene_symbol: STAT4
disease_id: OMIM:620443
disease_name: DISABLING PANSCLEROTIC MORPHEA OF CHILDHOOD
gene_symbol: EMD
disease_id: OMIM:310300
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: MECR
disease_id: OMIM:617282
disease_name: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
gene_symbol: DNAJC3
disease_id: OMIM:616192
disease_name: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS
gene_symbol: SDHB
disease_id: OMIM:619224
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: SLC39A4
disease_id: OMIM:201100
disease_name: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
gene_symbol: KMT2B
disease_id: OMIM:617284
disease_name: DYSTONIA 28, CHILDHOOD-ONSET
gene_symbol: TPP2
disease_id: OMIM:619220
disease_name: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY
gene_symbol: FLNC
disease_id: OMIM:617047
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
gene_symbol: CARMIL2
disease_id: OMIM:618131
disease_name: IMMUNODEFICIENCY 58
gene_symbol: GIMAP5
disease_id: OMIM:619463
disease_name: PORTAL HYPERTENSION, NONCIRRHOTIC, 2
gene_symbol: GYG1
disease_id: OMIM:616199
disease_name: POLYGLUCOSAN BODY MYOPATHY 2
gene_symbol: GNB2
disease_id: OMIM:619464
disease_name: SICK SINUS SYNDROME 4
gene_symbol: GTPBP3
disease_id: OMIM:616198
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
gene_symbol: LAMA2
disease_id: OMIM:618138
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
gene_symbol: DBT
disease_id: OMIM:620699
disease_name: MAPLE SYRUP URINE DISEASE, TYPE II
gene_symbol: HEPACAM
disease_id: OMIM:613925
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
gene_symbol: TEFM
disease_id: OMIM:620451
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58
gene_symbol: COA7
disease_id: OMIM:618387
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3
gene_symbol: MPZL2
disease_id: OMIM:618145
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 111
gene_symbol: VAC14
disease_id: OMIM:617054
disease_name: STRIATONIGRAL DEGENERATION, CHILDHOOD-ONSET
gene_symbol: F7
disease_id: OMIM:227500
disease_name: FACTOR VII DEFICIENCY
gene_symbol: DNAJC21
disease_id: OMIM:617052
disease_name: BONE MARROW FAILURE SYNDROME 3
gene_symbol: CUX2
disease_id: OMIM:618141
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67
gene_symbol: SLC13A3
disease_id: OMIM:618384
disease_name: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE
gene_symbol: BAAT
disease_id: OMIM:619232
disease_name: BILE ACID CONJUGATION DEFECT 1
gene_symbol: TACSTD2
disease_id: OMIM:204870
disease_name: CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE
gene_symbol: USP48
disease_id: OMIM:620227
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 85
gene_symbol: ATP6V0C
disease_id: OMIM:620465
disease_name: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY
gene_symbol: UCHL1
disease_id: OMIM:620221
disease_name: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA
gene_symbol: RNH1
disease_id: OMIM:620461
disease_name: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12
gene_symbol: CAP2
disease_id: OMIM:620462
disease_name: CARDIOMYOPATHY, DILATED, 2I
gene_symbol: ANK1
disease_id: OMIM:182900
disease_name: SPHEROCYTOSIS, TYPE 1
gene_symbol: HNRNPA2B1
disease_id: OMIM:620460
disease_name: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2
gene_symbol: SCN5A
disease_id: OMIM:603830
disease_name: LONG QT SYNDROME 3
gene_symbol: SCN5A
disease_id: OMIM:608567
disease_name: SICK SINUS SYNDROME 1
gene_symbol: TRIO
disease_id: OMIM:617061
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 44, WITH MICROCEPHALY
gene_symbol: CISD2
disease_id: OMIM:604928
disease_name: WOLFRAM SYNDROME 2
gene_symbol: HAVCR2
disease_id: OMIM:618398
disease_name: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
gene_symbol: GHR
disease_id: OMIM:262500
disease_name: LARON SYNDROME
gene_symbol: GATM
disease_id: OMIM:134600
disease_name: FANCONI RENOTUBULAR SYNDROME 1
gene_symbol: GABRG2
disease_id: OMIM:618396
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74
gene_symbol: GABRG2
disease_id: OMIM:607681
disease_name: FEBRILE SEIZURES, FAMILIAL, 8
gene_symbol: FHL1
disease_id: OMIM:300717
disease_name: REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET
gene_symbol: FHL1
disease_id: OMIM:300280
disease_name: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
gene_symbol: LIPN
disease_id: OMIM:613943
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 8
gene_symbol: NFATC2
disease_id: OMIM:620232
disease_name: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA
gene_symbol: GNS
disease_id: OMIM:252940
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIID
gene_symbol: AGR2
disease_id: OMIM:620233
disease_name: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA
gene_symbol: SLC25A19
disease_id: OMIM:613710
disease_name: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)
gene_symbol: MEGF10
disease_id: OMIM:620249
disease_name: CONGENITAL MYOPATHY 10B, MILD VARIANT
gene_symbol: LGI3
disease_id: OMIM:620007
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS
gene_symbol: CFL2
disease_id: OMIM:610687
disease_name: NEMALINE MYOPATHY 7
gene_symbol: CBS
disease_id: OMIM:236200
disease_name: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
gene_symbol: CBS
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PLP1
disease_id: OMIM:312920
disease_name: SPASTIC PARAPLEGIA 2, X-LINKED
gene_symbol: CACNA1S
disease_id: OMIM:620246
disease_name: CONGENITAL MYOPATHY 18
gene_symbol: TPM4
disease_id: OMIM:620486
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 25
gene_symbol: PPOX
disease_id: OMIM:620483
disease_name: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET
gene_symbol: ATP9A
disease_id: OMIM:620242
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES
gene_symbol: THPO
disease_id: OMIM:620481
disease_name: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2
gene_symbol: CCDC78
disease_id: OMIM:614807
disease_name: MYOPATHY, CENTRONUCLEAR, 4
gene_symbol: SCN8A
disease_id: OMIM:617080
disease_name: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
gene_symbol: SCN8A
disease_id: OMIM:614306
disease_name: COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA
gene_symbol: ADPRS
disease_id: OMIM:618170
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
gene_symbol: ATP6V0A4
disease_id: OMIM:602722
disease_name: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS
gene_symbol: ECM1
disease_id: OMIM:247100
disease_name: LIPOID PROTEINOSIS OF URBACH AND WIETHE
gene_symbol: HPDL
disease_id: OMIM:619026
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: ANTXR2
disease_id: OMIM:228600
disease_name: HYALINE FIBROMATOSIS SYNDROME
gene_symbol: DAAM2
disease_id: OMIM:619263
disease_name: NEPHROTIC SYNDROME, TYPE 24
gene_symbol: EMC10
disease_id: OMIM:619264
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES
gene_symbol: FBXO7
disease_id: OMIM:260300
disease_name: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: COL6A1
disease_id: OMIM:158810
disease_name: BETHLEM MYOPATHY 1
gene_symbol: NUP85
disease_id: OMIM:618176
disease_name: NEPHROTIC SYNDROME, TYPE 17
gene_symbol: SGCE
disease_id: OMIM:159900
disease_name: DYSTONIA 11, MYOCLONIC
gene_symbol: GPR101
disease_id: OMIM:300942
disease_name: CHROMOSOME Xq26.3 DUPLICATION SYNDROME
gene_symbol: NCF4
disease_id: OMIM:613960
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3
gene_symbol: SCN2A
disease_id: OMIM:613721
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11
gene_symbol: KIF1C
disease_id: OMIM:611302
disease_name: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE
gene_symbol: PLEC
disease_id: OMIM:613723
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 17
gene_symbol: PLEC
disease_id: OMIM:616487
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
gene_symbol: CYP11B1
disease_id: OMIM:103900
disease_name: HYPERALDOSTERONISM, FAMILIAL, TYPE I
gene_symbol: CYP11B2
disease_id: OMIM:103900
disease_name: HYPERALDOSTERONISM, FAMILIAL, TYPE I
gene_symbol: PHKA2
disease_id: OMIM:306000
disease_name: GLYCOGEN STORAGE DISEASE IXa1
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: NAGLU
disease_id: OMIM:252920
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIIB
gene_symbol: PLA2G6
disease_id: OMIM:610217
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B
gene_symbol: PLA2G6
disease_id: OMIM:256600
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
gene_symbol: UBAP2L
disease_id: OMIM:620494
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
gene_symbol: COL17A1
disease_id: OMIM:122400
disease_name: EPITHELIAL RECURRENT EROSION DYSTROPHY
gene_symbol: RPS29
disease_id: OMIM:615909
disease_name: DIAMOND-BLACKFAN ANEMIA 13
gene_symbol: TRPM3
disease_id: OMIM:620253
disease_name: CATARACT 50 WITH OR WITHOUT GLAUCOMA
gene_symbol: HECTD4
disease_id: OMIM:620250
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: VEGFC
disease_id: OMIM:615907
disease_name: LYMPHATIC MALFORMATION 4
gene_symbol: SIL1
disease_id: OMIM:248800
disease_name: MARINESCO-SJOGREN SYNDROME
gene_symbol: GCH1
disease_id: OMIM:128230
disease_name: DYSTONIA, DOPA-RESPONSIVE
gene_symbol: NBEA
disease_id: OMIM:619157
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY
gene_symbol: OTC
disease_id: OMIM:311250
disease_name: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: MLPH
disease_id: OMIM:609227
disease_name: GRISCELLI SYNDROME, TYPE 3
gene_symbol: FZR1
disease_id: OMIM:620145
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109
gene_symbol: PSAP
disease_id: OMIM:249900
disease_name: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
gene_symbol: FCHO1
disease_id: OMIM:619164
disease_name: IMMUNODEFICIENCY 76
gene_symbol: CHRNA2
disease_id: OMIM:610353
disease_name: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4
gene_symbol: LMBRD1
disease_id: OMIM:277380
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
gene_symbol: PGAP1
disease_id: OMIM:615802
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42
gene_symbol: RNF216
disease_id: OMIM:212840
disease_name: GORDON HOLMES SYNDROME
gene_symbol: PDCD1
disease_id: OMIM:621004
disease_name: OMIM:621004
gene_symbol: AMT
disease_id: OMIM:620398
disease_name: GLYCINE ENCEPHALOPATHY 2
gene_symbol: DSTYK
disease_id: OMIM:270750
disease_name: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE
gene_symbol: RRAGD
disease_id: OMIM:620152
disease_name: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY
gene_symbol: CLRN2
disease_id: OMIM:619174
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 117
gene_symbol: NDUFC2
disease_id: OMIM:619170
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36
gene_symbol: FRG1
disease_id: OMIM:158900
disease_name: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1
gene_symbol: SH3BP2
disease_id: OMIM:118400
disease_name: CHERUBISM
gene_symbol: NSD1
disease_id: OMIM:117550
disease_name: SOTOS SYNDROME 1
gene_symbol: IRF2BPL
disease_id: OMIM:618088
disease_name: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
gene_symbol: UNC45B
disease_id: OMIM:619178
disease_name: MYOFIBRILLAR MYOPATHY 11
gene_symbol: RYR1
disease_id: OMIM:255320
disease_name: MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
gene_symbol: RYR1
disease_id: OMIM:619542
disease_name: KING-DENBOROUGH SYNDROME
gene_symbol: LEP
disease_id: OMIM:614962
disease_name: LEPTIN DEFICIENCY OR DYSFUNCTION
gene_symbol: G6PC1
disease_id: OMIM:232200
disease_name: GLYCOGEN STORAGE DISEASE Ia
gene_symbol: APRT
disease_id: OMIM:614723
disease_name: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY
gene_symbol: STK11
disease_id: OMIM:175200
disease_name: PEUTZ-JEGHERS SYNDROME
gene_symbol: KCNMA1
disease_id: OMIM:609446
disease_name: PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY
gene_symbol: GOSR2
disease_id: OMIM:620166
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES
gene_symbol: GOSR2
disease_id: OMIM:614018
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 6
gene_symbol: WNT10A
disease_id: OMIM:257980
disease_name: ODONTOONYCHODERMAL DYSPLASIA
gene_symbol: AGPAT2
disease_id: OMIM:608594
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
gene_symbol: PKLR
disease_id: OMIM:266200
disease_name: PYRUVATE KINASE DEFICIENCY OF RED CELLS
gene_symbol: RIPOR2
disease_id: OMIM:607017
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 21
gene_symbol: LNPK
disease_id: OMIM:618090
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
gene_symbol: UNG
disease_id: OMIM:608106
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5
gene_symbol: BGN
disease_id: OMIM:300106
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
gene_symbol: BGN
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: CNNM2
disease_id: OMIM:613882
disease_name: HYPOMAGNESEMIA 6, RENAL
gene_symbol: CNNM2
disease_id: OMIM:616418
disease_name: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1
gene_symbol: SPTLC2
disease_id: OMIM:613640
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
gene_symbol: DIAPH1
disease_id: OMIM:124900
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA
gene_symbol: DSP
disease_id: OMIM:615821
disease_name: CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS
gene_symbol: ERLIN2
disease_id: OMIM:611225
disease_name: SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: TBX18
disease_id: OMIM:143400
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 2
gene_symbol: TBC1D24
disease_id: OMIM:608105
disease_name: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP
gene_symbol: FA2H
disease_id: OMIM:612319
disease_name: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
gene_symbol: SLC52A3
disease_id: OMIM:211530
disease_name: BROWN-VIALETTO-VAN LAERE SYNDROME 1
gene_symbol: IDUA
disease_id: OMIM:607015
disease_name: HURLER-SCHEIE SYNDROME
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: GDAP1
disease_id: OMIM:608340
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
gene_symbol: GDAP1
disease_id: OMIM:607706
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
gene_symbol: OCRL
disease_id: OMIM:300555
disease_name: DENT DISEASE 2
gene_symbol: NLRP3
disease_id: OMIM:191900
disease_name: MUCKLE-WELLS SYNDROME
gene_symbol: NLRP3
disease_id: OMIM:607115
disease_name: CINCA SYNDROME
gene_symbol: LYRM7
disease_id: OMIM:615838
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
gene_symbol: RAD51
disease_id: OMIM:614508
disease_name: MIRROR MOVEMENTS 2
gene_symbol: POLG
disease_id: OMIM:203700
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
gene_symbol: GRXCR2
disease_id: OMIM:615837
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 101
gene_symbol: MAD1L1
disease_id: OMIM:620189
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION
gene_symbol: SLC19A3
disease_id: OMIM:607483
disease_name: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE)
gene_symbol: LPIN1
disease_id: OMIM:268200
disease_name: MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE
gene_symbol: HPRT1
disease_id: OMIM:300322
disease_name: LESCH-NYHAN SYNDROME
gene_symbol: MTMR14
disease_id: OMIM:160150
disease_name: MYOPATHY, CENTRONUCLEAR, 1
gene_symbol: DNM2
disease_id: OMIM:160150
disease_name: MYOPATHY, CENTRONUCLEAR, 1
gene_symbol: NFIX
disease_id: OMIM:614753
disease_name: SOTOS SYNDROME 2
gene_symbol: DPAGT1
disease_id: OMIM:614750
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 13
gene_symbol: ACTC1
disease_id: OMIM:613424
disease_name: CARDIOMYOPATHY, DILATED, 1R
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: LTV1
disease_id: OMIM:620199
disease_name: INFLAMMATORY POIKILODERMA WITH HAIR ABNORMALITIES AND ACRAL KERATOSES
gene_symbol: CFAP74
disease_id: OMIM:620197
disease_name: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS
gene_symbol: KDM5C
disease_id: OMIM:300534
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
gene_symbol: CLCN7
disease_id: OMIM:611490
disease_name: OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4
gene_symbol: CPT1A
disease_id: OMIM:255120
disease_name: CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY
gene_symbol: CD3E
disease_id: OMIM:615615
disease_name: IMMUNODEFICIENCY 18
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: TGFBR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ISCU
disease_id: OMIM:255125
disease_name: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY
gene_symbol: CPT2
disease_id: OMIM:255110
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED
gene_symbol: ALG10B
disease_id: OMIM:613688
disease_name: LONG QT SYNDROME 2
gene_symbol: KCNH2
disease_id: OMIM:613688
disease_name: LONG QT SYNDROME 2
gene_symbol: GJC2
disease_id: OMIM:613206
disease_name: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE
gene_symbol: GJC2
disease_id: OMIM:613480
disease_name: LYMPHATIC MALFORMATION 3
gene_symbol: LMNA
disease_id: OMIM:613205
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
gene_symbol: LMNA
disease_id: OMIM:616516
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AUTOSOMAL RECESSIVE
gene_symbol: LMNA
disease_id: OMIM:181350
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
gene_symbol: LMNA
disease_id: OMIM:248370
disease_name: MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY
gene_symbol: LMNA
disease_id: OMIM:212112
disease_name: CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM
gene_symbol: SOX11
disease_id: OMIM:615866
disease_name: COFFIN-SIRIS SYNDROME 9
gene_symbol: MECP2
disease_id: OMIM:312750
disease_name: RETT SYNDROME
gene_symbol: MECP2
disease_id: OMIM:300496
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3
gene_symbol: SCYL1
disease_id: OMIM:616719
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21
gene_symbol: TMEM240
disease_id: OMIM:607454
disease_name: SPINOCEREBELLAR ATAXIA 21
gene_symbol: LZTR1
disease_id: OMIM:605275
disease_name: NOONAN SYNDROME 2
gene_symbol: POLR3A
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: LTBP3
disease_id: OMIM:617809
disease_name: GELEOPHYSIC DYSPLASIA 3
gene_symbol: LTBP3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FGD1
disease_id: OMIM:305400
disease_name: AARSKOG-SCOTT SYNDROME
gene_symbol: HCN1
disease_id: OMIM:615871
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: CCNO
disease_id: OMIM:615872
disease_name: CILIARY DYSKINESIA, PRIMARY, 29
gene_symbol: KPTN
disease_id: OMIM:615637
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41
gene_symbol: MIR184
disease_id: OMIM:614303
disease_name: EDICT SYNDROME
gene_symbol: NEFL
disease_id: OMIM:607684
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
gene_symbol: NEFL
disease_id: OMIM:617882
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
gene_symbol: NEFL
disease_id: OMIM:607734
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F
gene_symbol: MSX1
disease_id: OMIM:106600
disease_name: TOOTH AGENESIS, SELECTIVE, 1
gene_symbol: CD164
disease_id: OMIM:616969
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 66
gene_symbol: ATRX
disease_id: OMIM:301040
disease_name: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
gene_symbol: CACNB4
disease_id: OMIM:607682
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
gene_symbol: AICDA
disease_id: OMIM:605258
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
gene_symbol: COASY
disease_id: OMIM:615643
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6
gene_symbol: DPYD
disease_id: OMIM:274270
disease_name: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
gene_symbol: ORAI1
disease_id: OMIM:615883
disease_name: MYOPATHY, TUBULAR AGGREGATE, 2
gene_symbol: AARS2
disease_id: OMIM:615889
disease_name: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
gene_symbol: TENM4
disease_id: OMIM:616736
disease_name: TREMOR, HEREDITARY ESSENTIAL, 5
gene_symbol: KRT14
disease_id: OMIM:131800
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
gene_symbol: KRT14
disease_id: OMIM:131760
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
gene_symbol: SLC24A4
disease_id: OMIM:615887
disease_name: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5
gene_symbol: RASGRP2
disease_id: OMIM:615888
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 18
gene_symbol: IRAK4
disease_id: OMIM:607676
disease_name: IMMUNODEFICIENCY 67
gene_symbol: HS6ST2
disease_id: OMIM:301025
disease_name: PAGANINI-MIOZZO SYNDROME
gene_symbol: NDUFA1
disease_id: OMIM:301020
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: PNKD
disease_id: OMIM:118800
disease_name: PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
gene_symbol: SNORD118
disease_id: OMIM:614561
disease_name: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
gene_symbol: FRRS1L
disease_id: OMIM:616981
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37
gene_symbol: CLCN2
disease_id: OMIM:615651
disease_name: LEUKOENCEPHALOPATHY WITH ATAXIA
gene_symbol: TBC1D8B
disease_id: OMIM:301028
disease_name: NEPHROTIC SYNDROME, TYPE 20
gene_symbol: TNFAIP3
disease_id: OMIM:616744
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
gene_symbol: NUS1
disease_id: OMIM:617831
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES
gene_symbol: WWOX
disease_id: OMIM:614322
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: ATR
disease_id: OMIM:614564
disease_name: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
gene_symbol: TFG
disease_id: OMIM:615658
disease_name: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
gene_symbol: PYGM
disease_id: OMIM:232600
disease_name: GLYCOGEN STORAGE DISEASE V
gene_symbol: SPARC
disease_id: OMIM:616507
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XVII
gene_symbol: MRE11
disease_id: OMIM:604391
disease_name: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1
gene_symbol: SNRPN
disease_id: OMIM:209850
disease_name: AUTISM
gene_symbol: KCNQ5
disease_id: OMIM:617601
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 46
gene_symbol: CIC
disease_id: OMIM:617600
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45
gene_symbol: PLEKHG5
disease_id: OMIM:611067
disease_name: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4
gene_symbol: CLDN19
disease_id: OMIM:248190
disease_name: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT
gene_symbol: MMAB
disease_id: OMIM:251110
disease_name: METHYLMALONIC ACIDURIA, cblB TYPE
gene_symbol: SLC34A2
disease_id: OMIM:265100
disease_name: PULMONARY ALVEOLAR MICROLITHIASIS
gene_symbol: CD19
disease_id: OMIM:613493
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 3
gene_symbol: LAGE3
disease_id: OMIM:301006
disease_name: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
gene_symbol: ITK
disease_id: OMIM:613011
disease_name: LYMPHOPROLIFERATIVE SYNDROME 1
gene_symbol: MS4A1
disease_id: OMIM:613495
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 5
gene_symbol: UROC1
disease_id: OMIM:276880
disease_name: UROCANASE DEFICIENCY
gene_symbol: MYT1L
disease_id: OMIM:616521
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
gene_symbol: DZIP1L
disease_id: OMIM:617610
disease_name: POLYCYSTIC KIDNEY DISEASE 5
gene_symbol: IGKC
disease_id: OMIM:614102
disease_name: IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY
gene_symbol: COL18A1
disease_id: OMIM:267750
disease_name: KNOBLOCH SYNDROME 1
gene_symbol: TRAPPC6B
disease_id: OMIM:617862
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY
gene_symbol: ERLIN1
disease_id: OMIM:615681
disease_name: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: ATP2B2
disease_id: OMIM:619804
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 82
gene_symbol: ARL6IP1
disease_id: OMIM:615685
disease_name: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE
gene_symbol: ZMYND10
disease_id: OMIM:615444
disease_name: CILIARY DYSKINESIA, PRIMARY, 22
gene_symbol: IL21R
disease_id: OMIM:615207
disease_name: IMMUNODEFICIENCY 56
gene_symbol: PHKG2
disease_id: OMIM:613027
disease_name: GLYCOGEN STORAGE DISEASE IXc
gene_symbol: FGF14
disease_id: OMIM:193003
disease_name: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT
gene_symbol: REST
disease_id: OMIM:617626
disease_name: FIBROMATOSIS, GINGIVAL, 5
gene_symbol: REST
disease_id: OMIM:616806
disease_name: WILMS TUMOR 6
gene_symbol: SPG11
disease_id: OMIM:604360
disease_name: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
gene_symbol: SPG11
disease_id: OMIM:616668
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X
gene_symbol: NPC2
disease_id: OMIM:607625
disease_name: NIEMANN-PICK DISEASE, TYPE C2
gene_symbol: POLA1
disease_id: OMIM:301220
disease_name: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED
gene_symbol: NSUN2
disease_id: OMIM:611091
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
gene_symbol: TUSC3
disease_id: OMIM:611093
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7
gene_symbol: MRPS7
disease_id: OMIM:617872
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34
gene_symbol: LMNB2
disease_id: OMIM:616540
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 9
gene_symbol: ATP11A
disease_id: OMIM:619810
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 84
gene_symbol: CLPB
disease_id: OMIM:619813
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT
gene_symbol: AAAS
disease_id: OMIM:231550
disease_name: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
gene_symbol: SMPD1
disease_id: OMIM:607616
disease_name: NIEMANN-PICK DISEASE, TYPE B
gene_symbol: ACSL4
disease_id: OMIM:300387
disease_name: MENTAL RETARDATION, X-LINKED 63
gene_symbol: BRCA1
disease_id: OMIM:617883
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP S
gene_symbol: RAB33B
disease_id: OMIM:615222
disease_name: SMITH-MCCORT DYSPLASIA 2
gene_symbol: SIGMAR1
disease_id: OMIM:614373
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE
gene_symbol: MYO1E
disease_id: OMIM:614131
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
gene_symbol: GLUL
disease_id: OMIM:620806
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116
gene_symbol: NLRP1
disease_id: OMIM:615225
disease_name: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING
gene_symbol: CCT5
disease_id: OMIM:256840
disease_name: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
gene_symbol: INPP5K
disease_id: OMIM:617404
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY
gene_symbol: RFXANK
disease_id: OMIM:620815
disease_name: MHC CLASS II DEFICIENCY 2
gene_symbol: PIDD1
disease_id: OMIM:619827
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY
gene_symbol: ADCY3
disease_id: OMIM:617885
disease_name: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
gene_symbol: TAP2
disease_id: OMIM:620813
disease_name: MHC CLASS I DEFICIENCY 2
gene_symbol: TCF3
disease_id: OMIM:619824
disease_name: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE
gene_symbol: TMPRSS3
disease_id: OMIM:601072
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 8
gene_symbol: STIM1
disease_id: OMIM:160565
disease_name: MYOPATHY, TUBULAR AGGREGATE, 1
gene_symbol: MAG
disease_id: OMIM:616680
disease_name: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
gene_symbol: GMPPB
disease_id: OMIM:615350
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
gene_symbol: GMPPB
disease_id: OMIM:615352
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
gene_symbol: SLC12A5
disease_id: OMIM:616685
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
gene_symbol: LRIG2
disease_id: OMIM:615112
disease_name: UROFACIAL SYNDROME 2
gene_symbol: EXT2
disease_id: OMIM:616682
disease_name: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME
gene_symbol: EXT2
disease_id: OMIM:133701
disease_name: EXOSTOSES, MULTIPLE, TYPE II
gene_symbol: TECRL
disease_id: OMIM:614021
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 3
gene_symbol: CUBN
disease_id: OMIM:261100
disease_name: IMERSLUND-GRASBECK SYNDROME 1
gene_symbol: NFU1
disease_id: OMIM:620938
disease_name: OMIM:620938
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: KCNN4
disease_id: OMIM:616689
disease_name: DEHYDRATED HEREDITARY STOMATOCYTOSIS 2
gene_symbol: CDH2
disease_id: OMIM:619957
disease_name: ATTENTION DEFICIT-HYPERACTIVITY DISORDER 8
gene_symbol: HMBS
disease_id: OMIM:620704
disease_name: ENCEPHALOPATHY, PORPHYRIA-RELATED
gene_symbol: HMBS
disease_id: OMIM:620711
disease_name: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED
gene_symbol: IL17RC
disease_id: OMIM:616445
disease_name: CANDIDIASIS, FAMILIAL, 9
gene_symbol: VCP
disease_id: OMIM:616687
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Y
gene_symbol: SERPINB7
disease_id: OMIM:615598
disease_name: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE
gene_symbol: TRAPPC11
disease_id: OMIM:615356
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18
gene_symbol: CHCHD10
disease_id: OMIM:616209
disease_name: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT
gene_symbol: PLXNA1
disease_id: OMIM:619955
disease_name: DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME
gene_symbol: GLB1
disease_id: OMIM:230600
disease_name: GM1-GANGLIOSIDOSIS, TYPE II
gene_symbol: GLB1
disease_id: OMIM:230650
disease_name: GM1-GANGLIOSIDOSIS, TYPE III
gene_symbol: STT3A
disease_id: OMIM:619714
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT
gene_symbol: ZNF711
disease_id: OMIM:300803
disease_name: MENTAL RETARDATION, X-LINKED 97
gene_symbol: AGRN
disease_id: OMIM:615120
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 8
gene_symbol: AGRN
disease_id: OMIM:254300
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 10
gene_symbol: KANK2
disease_id: OMIM:617783
disease_name: NEPHROTIC SYNDROME, TYPE 16
gene_symbol: TTN
disease_id: OMIM:608807
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10
gene_symbol: APOLD1
disease_id: OMIM:620715
disease_name: BLEEDING DISORDER, VASCULAR-TYPE
gene_symbol: CAD
disease_id: OMIM:616457
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50
gene_symbol: CHD2
disease_id: OMIM:615369
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94
gene_symbol: GFAP
disease_id: OMIM:203450
disease_name: ALEXANDER DISEASE
gene_symbol: ATM
disease_id: OMIM:208900
disease_name: ATAXIA-TELANGIECTASIA
gene_symbol: TMEM63C
disease_id: OMIM:619966
disease_name: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE
gene_symbol: KCNN2
disease_id: OMIM:619725
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES
gene_symbol: CYP2R1
disease_id: OMIM:600081
disease_name: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B
gene_symbol: MOCOS
disease_id: OMIM:603592
disease_name: XANTHINURIA, TYPE II
gene_symbol: ACP5
disease_id: OMIM:607944
disease_name: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
gene_symbol: AMN
disease_id: OMIM:618882
disease_name: IMERSLUND-GRASBECK SYNDROME 2
gene_symbol: EDC3
disease_id: OMIM:616460
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50
gene_symbol: PUM1
disease_id: OMIM:620719
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: CRB2
disease_id: OMIM:616220
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9
gene_symbol: WARS2
disease_id: OMIM:619738
disease_name: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET
gene_symbol: ANKH
disease_id: OMIM:123000
disease_name: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
gene_symbol: COL6A2
disease_id: OMIM:620725
disease_name: BETHLEM MYOPATHY 1B
gene_symbol: COL6A2
disease_id: OMIM:255600
disease_name: MYOSCLEROSIS, AUTOSOMAL RECESSIVE
gene_symbol: CPAMD8
disease_id: OMIM:617319
disease_name: ANTERIOR SEGMENT DYSGENESIS 8
gene_symbol: ALG2
disease_id: OMIM:616228
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 14
gene_symbol: ALG2
disease_id: OMIM:607906
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
gene_symbol: SGCG
disease_id: OMIM:253700
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 5
gene_symbol: MMP14
disease_id: OMIM:277950
disease_name: WINCHESTER SYNDROME
gene_symbol: RUNX1
disease_id: OMIM:601399
disease_name: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
gene_symbol: ANKS6
disease_id: OMIM:615382
disease_name: NEPHRONOPHTHISIS 16
gene_symbol: NKX6-2
disease_id: OMIM:617560
disease_name: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: GLS
disease_id: OMIM:618412
disease_name: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE
gene_symbol: POLRMT
disease_id: OMIM:619743
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55
gene_symbol: C19orf12
disease_id: OMIM:614298
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
gene_symbol: TRAC
disease_id: OMIM:615387
disease_name: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
gene_symbol: UBAP1
disease_id: OMIM:618418
disease_name: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT
gene_symbol: SLC26A1
disease_id: OMIM:167030
disease_name: NEPHROLITHIASIS, CALCIUM OXALATE
gene_symbol: APTX
disease_id: OMIM:208920
disease_name: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
gene_symbol: NAT8L
disease_id: OMIM:614063
disease_name: N-ACETYLASPARTATE DEFICIENCY
gene_symbol: IL6ST
disease_id: OMIM:619752
disease_name: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: COL27A1
disease_id: OMIM:615155
disease_name: STEEL SYNDROME
gene_symbol: SGPL1
disease_id: OMIM:617575
disease_name: NEPHROTIC SYNDROME, TYPE 14
gene_symbol: CALM2
disease_id: OMIM:616249
disease_name: LONG QT SYNDROME 15
gene_symbol: TTC19
disease_id: OMIM:615157
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: CALM1
disease_id: OMIM:616247
disease_name: LONG QT SYNDROME 14
gene_symbol: CALM1
disease_id: OMIM:614916
disease_name: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
gene_symbol: RMRP
disease_id: OMIM:250460
disease_name: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
gene_symbol: CADM3
disease_id: OMIM:619519
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF
gene_symbol: MYPN
disease_id: OMIM:617336
disease_name: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE
gene_symbol: PIK3R1
disease_id: OMIM:616005
disease_name: IMMUNODEFICIENCY 36
gene_symbol: PRDM12
disease_id: OMIM:616488
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII
gene_symbol: DNAH1
disease_id: OMIM:617577
disease_name: CILIARY DYSKINESIA, PRIMARY, 37
gene_symbol: PTRHD1
disease_id: OMIM:620747
disease_name: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES
gene_symbol: SASH3
disease_id: OMIM:301082
disease_name: IMMUNODEFICIENCY 102
gene_symbol: CLCN1
disease_id: OMIM:255700
disease_name: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
gene_symbol: CLCN1
disease_id: OMIM:160800
disease_name: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
gene_symbol: SCN1A
disease_id: OMIM:604403
disease_name: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
gene_symbol: STX11
disease_id: OMIM:603552
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4
gene_symbol: POLR1C
disease_id: OMIM:616494
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 11
gene_symbol: STN1
disease_id: OMIM:617341
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
gene_symbol: FBLN5
disease_id: OMIM:619764
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H
gene_symbol: FBLN5
disease_id: OMIM:608895
disease_name: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
gene_symbol: DTNBP1
disease_id: OMIM:614076
disease_name: HERMANSKY-PUDLAK SYNDROME 7
gene_symbol: SNAPC4
disease_id: OMIM:620515
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION
gene_symbol: GNE
disease_id: OMIM:620757
disease_name: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY
gene_symbol: SLC32A1
disease_id: OMIM:620755
disease_name: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12
gene_symbol: SLC32A1
disease_id: OMIM:620774
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114
gene_symbol: PLCG1
disease_id: OMIM:620514
disease_name: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION
gene_symbol: SCAF4
disease_id: OMIM:620511
disease_name: FLIEDNER-ZWEIER SYNDROME
gene_symbol: CHP1
disease_id: OMIM:618438
disease_name: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
gene_symbol: TCF4
disease_id: OMIM:610954
disease_name: PITT-HOPKINS SYNDROME
gene_symbol: FGF13
disease_id: OMIM:301095
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 110
gene_symbol: GABRA3
disease_id: OMIM:301091
disease_name: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: LIG1
disease_id: OMIM:619774
disease_name: IMMUNODEFICIENCY 96
gene_symbol: TRIP13
disease_id: OMIM:617598
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3
gene_symbol: PNKP
disease_id: OMIM:616267
disease_name: ATAXIA-OCULOMOTOR APRAXIA 4
gene_symbol: PPP1R13L
disease_id: OMIM:620519
disease_name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
gene_symbol: SLC30A9
disease_id: OMIM:617595
disease_name: BIRK-LANDAU-PEREZ SYNDROME
gene_symbol: SPTAN1
disease_id: OMIM:620528
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11
gene_symbol: SPTAN1
disease_id: OMIM:620538
disease_name: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA
gene_symbol: SPTAN1
disease_id: OMIM:620540
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY
gene_symbol: PFKM
disease_id: OMIM:232800
disease_name: GLYCOGEN STORAGE DISEASE VII
gene_symbol: IKBKB
disease_id: OMIM:618204
disease_name: IMMUNODEFICIENCY 15A
gene_symbol: MCOLN1
disease_id: OMIM:620763
disease_name: CORNEAL DYSTROPHY, LISCH EPITHELIAL
gene_symbol: PLCE1
disease_id: OMIM:610725
disease_name: NEPHROTIC SYNDROME, TYPE 3
gene_symbol: SH3TC2
disease_id: OMIM:601596
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
gene_symbol: SCN4B
disease_id: OMIM:611819
disease_name: LONG QT SYNDROME 10
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: B3GALNT2
disease_id: OMIM:615181
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11
gene_symbol: GLRA2
disease_id: OMIM:301076
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE
gene_symbol: TRRAP
disease_id: OMIM:618454
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
gene_symbol: FEZF1
disease_id: OMIM:616030
disease_name: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA
gene_symbol: LIG3
disease_id: OMIM:619780
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE)
gene_symbol: LOXL3
disease_id: OMIM:619781
disease_name: MYOPIA 28, AUTOSOMAL RECESSIVE
gene_symbol: COX6A1
disease_id: OMIM:616039
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D
gene_symbol: KCNH5
disease_id: OMIM:620537
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112
gene_symbol: CAPNS1
disease_id: OMIM:620777
disease_name: PULMONARY HYPERTENSION, PRIMARY, 6
gene_symbol: COL4A3
disease_id: OMIM:620536
disease_name: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE
gene_symbol: RACGAP1
disease_id: OMIM:619789
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE
gene_symbol: GALE
disease_id: OMIM:620776
disease_name: THROMBOCYTOPENIA 13, SYNDROMIC
gene_symbol: GALE
disease_id: OMIM:230350
disease_name: GALACTOSEMIA III
gene_symbol: AP1S2
disease_id: OMIM:304340
disease_name: PETTIGREW SYNDROME
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: HAX1
disease_id: OMIM:610738
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE
gene_symbol: SPART
disease_id: OMIM:275900
disease_name: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE
gene_symbol: FECH
disease_id: OMIM:177000
disease_name: PROTOPORPHYRIA, ERYTHROPOIETIC, 1
gene_symbol: TINF2
disease_id: OMIM:268130
disease_name: REVESZ SYNDROME
gene_symbol: TINF2
disease_id: OMIM:613990
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3
gene_symbol: CCDC134
disease_id: OMIM:619795
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXII
gene_symbol: CLIC5
disease_id: OMIM:616042
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 103
gene_symbol: HDAC4
disease_id: OMIM:619797
disease_name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: SYT2
disease_id: OMIM:616040
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 7, PRESYNAPTIC
gene_symbol: EPHB2
disease_id: OMIM:618462
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 22
gene_symbol: UBA5
disease_id: OMIM:617133
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24
gene_symbol: COG3
disease_id: OMIM:620546
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb
gene_symbol: FOSL2
disease_id: OMIM:620789
disease_name: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME
gene_symbol: DMD
disease_id: OMIM:310200
disease_name: MUSCULAR DYSTROPHY, DUCHENNE TYPE
gene_symbol: VMA21
disease_id: OMIM:310440
disease_name: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY
gene_symbol: CFI
disease_id: OMIM:610984
disease_name: COMPLEMENT FACTOR I DEFICIENCY
gene_symbol: CFI
disease_id: OMIM:612923
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
gene_symbol: CD46
disease_id: OMIM:612922
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
gene_symbol: VRK1
disease_id: OMIM:620542
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10
gene_symbol: HADHB
disease_id: OMIM:620300
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2
gene_symbol: SNF8
disease_id: OMIM:620784
disease_name: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY
gene_symbol: C3
disease_id: OMIM:612925
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5
gene_symbol: C3
disease_id: OMIM:613779
disease_name: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
gene_symbol: SLC9A1
disease_id: OMIM:616291
disease_name: LICHTENSTEIN-KNORR SYNDROME
gene_symbol: NDUFAF2
disease_id: OMIM:618233
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
gene_symbol: TBC1D2B
disease_id: OMIM:619323
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
gene_symbol: CSF1R
disease_id: OMIM:618476
disease_name: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
gene_symbol: JAG2
disease_id: OMIM:619566
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27
gene_symbol: CRPPA
disease_id: OMIM:616052
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
gene_symbol: RIGI
disease_id: OMIM:616298
disease_name: SINGLETON-MERTEN SYNDROME 2
gene_symbol: KCNB1
disease_id: OMIM:616056
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26
gene_symbol: EIF2B5
disease_id: OMIM:620315
disease_name: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 5
gene_symbol: AXIN1
disease_id: OMIM:620558
disease_name: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA
gene_symbol: NDUFAF6
disease_id: OMIM:618239
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
gene_symbol: EIF2B4
disease_id: OMIM:620314
disease_name: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 4
gene_symbol: SHARPIN
disease_id: OMIM:620795
disease_name: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION
gene_symbol: GPR156
disease_id: OMIM:620551
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 121
gene_symbol: SNUPN
disease_id: OMIM:620793
disease_name: OMIM:620793
gene_symbol: GK
disease_id: OMIM:307030
disease_name: GLYCEROL KINASE DEFICIENCY
gene_symbol: SMC3
disease_id: OMIM:610759
disease_name: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: SMARCA4
disease_id: OMIM:620792
disease_name: OTOSCLEROSIS 12
gene_symbol: AQP5
disease_id: OMIM:600231
disease_name: PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE
gene_symbol: GEMIN5
disease_id: OMIM:619333
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION
gene_symbol: RHOBTB2
disease_id: OMIM:618004
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64
gene_symbol: AIFM1
disease_id: OMIM:300614
disease_name: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: NUBPL
disease_id: OMIM:618242
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: AEBP1
disease_id: OMIM:618000
disease_name: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2
gene_symbol: AEBP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TPM2
disease_id: OMIM:609285
disease_name: NEMALINE MYOPATHY 4
gene_symbol: ARHGEF9
disease_id: OMIM:300607
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8
gene_symbol: DNAJB4
disease_id: OMIM:620326
disease_name: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE
gene_symbol: WT1
disease_id: OMIM:256370
disease_name: NEPHROTIC SYNDROME, TYPE 4
gene_symbol: C1QC
disease_id: OMIM:620322
disease_name: C1q DEFICIENCY 3
gene_symbol: C1QB
disease_id: OMIM:620321
disease_name: C1q DEFICIENCY 2
gene_symbol: ASPH
disease_id: OMIM:601552
disease_name: FACIAL DYSMORPHISM, LENS DISLOCATION, ANTERIOR SEGMENT ABNORMALITIES, AND SPONTANEOUS FILTERING BLEBS
gene_symbol: ASPH
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: HMGCS2
disease_id: OMIM:605911
disease_name: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY
gene_symbol: PUS1
disease_id: OMIM:600462
disease_name: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1
gene_symbol: TMEM126B
disease_id: OMIM:618250
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
gene_symbol: CACNA1B
disease_id: OMIM:618497
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS
gene_symbol: BDP1
disease_id: OMIM:618257
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 112
gene_symbol: APC2
disease_id: OMIM:617169
disease_name: SOTOS SYNDROME 3
gene_symbol: PIGH
disease_id: OMIM:618010
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17
gene_symbol: NDUFA6
disease_id: OMIM:618253
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33
gene_symbol: FMR1
disease_id: OMIM:300624
disease_name: FRAGILE X SYNDROME
gene_symbol: ATP6V1A
disease_id: OMIM:618012
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 93
gene_symbol: KBTBD13
disease_id: OMIM:609273
disease_name: NEMALINE MYOPATHY 6
gene_symbol: GJB2
disease_id: OMIM:124500
disease_name: VOHWINKEL SYNDROME
gene_symbol: TPP1
disease_id: OMIM:609270
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
gene_symbol: SAMHD1
disease_id: OMIM:612952
disease_name: AICARDI-GOUTIERES SYNDROME 5
gene_symbol: SAMHD1
disease_id: OMIM:614415
disease_name: CHILBLAIN LUPUS 2
gene_symbol: BAG3
disease_id: OMIM:612954
disease_name: MYOPATHY, MYOFIBRILLAR, 6
gene_symbol: STS
disease_id: OMIM:308100
disease_name: ICHTHYOSIS, X-LINKED
gene_symbol: CCDC39
disease_id: OMIM:613807
disease_name: CILIARY DYSKINESIA, PRIMARY, 14
gene_symbol: DAW1
disease_id: OMIM:620570
disease_name: CILIARY DYSKINESIA, PRIMARY, 52
gene_symbol: SCNN1B
disease_id: OMIM:177200
disease_name: LIDDLE SYNDROME 1
gene_symbol: COL10A1
disease_id: OMIM:156500
disease_name: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE
gene_symbol: CIB1
disease_id: OMIM:618267
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3
gene_symbol: SFRP4
disease_id: OMIM:265900
disease_name: PYLE DISEASE
gene_symbol: COL1A1
disease_id: OMIM:619115
disease_name: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1
gene_symbol: THRB
disease_id: OMIM:188570
disease_name: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
gene_symbol: PANK4
disease_id: OMIM:619593
disease_name: CATARACT 49
gene_symbol: ACADS
disease_id: OMIM:201470
disease_name: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
gene_symbol: TPM1
disease_id: OMIM:611878
disease_name: CARDIOMYOPATHY, DILATED, 1Y
gene_symbol: FLG
disease_id: OMIM:146700
disease_name: ICHTHYOSIS VULGARIS
gene_symbol: DAG1
disease_id: OMIM:613818
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9
gene_symbol: NRIP1
disease_id: OMIM:618270
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3
gene_symbol: SEC23B
disease_id: OMIM:224100
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II
gene_symbol: NAXE
disease_id: OMIM:617186
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1
gene_symbol: MTX2
disease_id: OMIM:619127
disease_name: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME
gene_symbol: SLC16A1
disease_id: OMIM:616095
disease_name: MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY
gene_symbol: COL1A2
disease_id: OMIM:619120
disease_name: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2
gene_symbol: AGTPBP1
disease_id: OMIM:618276
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
gene_symbol: DNAH11
disease_id: OMIM:611884
disease_name: CILIARY DYSKINESIA, PRIMARY, 7
gene_symbol: MAST3
disease_id: OMIM:620115
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108
gene_symbol: CACNA1I
disease_id: OMIM:620114
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES
gene_symbol: ITPR3
disease_id: OMIM:620111
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J
gene_symbol: FANCC
disease_id: OMIM:227645
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP C
gene_symbol: KDELR2
disease_id: OMIM:619131
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XXI
gene_symbol: SOCS1
disease_id: OMIM:619375
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: ARG1
disease_id: OMIM:207800
disease_name: ARGININEMIA
gene_symbol: BCKDK
disease_id: OMIM:614923
disease_name: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
gene_symbol: DNAJC30
disease_id: OMIM:619382
disease_name: LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 1
gene_symbol: ALPK3
disease_id: OMIM:618052
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27
gene_symbol: PHKB
disease_id: OMIM:261750
disease_name: GLYCOGEN STORAGE DISEASE IXb
gene_symbol: CD55
disease_id: OMIM:226300
disease_name: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
gene_symbol: VPS41
disease_id: OMIM:619389
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29
gene_symbol: UQCRH
disease_id: OMIM:620137
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: AMFR
disease_id: OMIM:620379
disease_name: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE
gene_symbol: MLIP
disease_id: OMIM:620138
disease_name: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS
gene_symbol: SYNE2
disease_id: OMIM:612999
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
gene_symbol: MAFB
disease_id: OMIM:166300
disease_name: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
gene_symbol: SYNE1
disease_id: OMIM:612998
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT
gene_symbol: PNPT1
disease_id: OMIM:614934
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 70
gene_symbol: HMGCR
disease_id: OMIM:620375
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28
gene_symbol: PNPLA8
disease_id: OMIM:251950
disease_name: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS
gene_symbol: SLC22A5
disease_id: OMIM:212140
disease_name: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
gene_symbol: CYB561
disease_id: OMIM:618182
disease_name: ORTHOSTATIC HYPOTENSION 2
gene_symbol: ERF
disease_id: OMIM:600775
disease_name: CRANIOSYNOSTOSIS 4
gene_symbol: EXT1
disease_id: OMIM:133700
disease_name: EXOSTOSES, MULTIPLE, TYPE I
gene_symbol: PPCS
disease_id: OMIM:618189
disease_name: CARDIOMYOPATHY, DILATED, 2C
gene_symbol: PMP22
disease_id: OMIM:118300
disease_name: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
gene_symbol: KRT5
disease_id: OMIM:131760
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
gene_symbol: KRT5
disease_id: OMIM:131960
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION
gene_symbol: TRPV4
disease_id: OMIM:606071
disease_name: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
gene_symbol: TRPV4
disease_id: OMIM:184252
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
gene_symbol: TRAPPC10
disease_id: OMIM:620027
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY
gene_symbol: RAF1
disease_id: OMIM:615916
disease_name: CARDIOMYOPATHY, DILATED, 1NN
gene_symbol: CHKA
disease_id: OMIM:620023
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES
gene_symbol: HSD11B2
disease_id: OMIM:218030
disease_name: APPARENT MINERALOCORTICOID EXCESS
gene_symbol: PIK3CD
disease_id: OMIM:619281
disease_name: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE
gene_symbol: SVIL
disease_id: OMIM:619040
disease_name: MYOFIBRILLAR MYOPATHY 10
gene_symbol: SAMD9
disease_id: OMIM:619041
disease_name: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2
gene_symbol: RSPH9
disease_id: OMIM:612650
disease_name: CILIARY DYSKINESIA, PRIMARY, 12
gene_symbol: KRT74
disease_id: OMIM:613981
disease_name: HYPOTRICHOSIS 3
gene_symbol: AP4E1
disease_id: OMIM:613744
disease_name: SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE
gene_symbol: AP4E1
disease_id: OMIM:184450
disease_name: STUTTERING, FAMILIAL PERSISTENT, 1
gene_symbol: TNFRSF9
disease_id: OMIM:620282
disease_name: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION
gene_symbol: SPG21
disease_id: OMIM:248900
disease_name: MAST SYNDROME
gene_symbol: FYB1
disease_id: OMIM:273900
disease_name: THROMBOCYTOPENIA 3
gene_symbol: TACO1
disease_id: OMIM:619052
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8
gene_symbol: NPHS2
disease_id: OMIM:600995
disease_name: NEPHROTIC SYNDROME, TYPE 2
gene_symbol: VPS16
disease_id: OMIM:619291
disease_name: DYSTONIA 30
gene_symbol: CHRNA4
disease_id: OMIM:600513
disease_name: EPILEPSY, NOCTURNAL FRONTAL LOBE, 1
gene_symbol: SETD1A
disease_id: OMIM:619056
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES
gene_symbol: TK2
disease_id: OMIM:609560
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)
gene_symbol: SLC6A19
disease_id: OMIM:234500
disease_name: HARTNUP DISORDER
gene_symbol: BTD
disease_id: OMIM:253260
disease_name: BIOTINIDASE DEFICIENCY
gene_symbol: TNNT2
disease_id: OMIM:612422
disease_name: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3
gene_symbol: LAMA5
disease_id: OMIM:620049
disease_name: NEPHROTIC SYNDROME, TYPE 26
gene_symbol: SLC20A2
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: PDGFRB
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: PDGFRB
disease_id: OMIM:601812
disease_name: PREMATURE AGING SYNDROME, PENTTINEN TYPE
gene_symbol: XPR1
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: ACADSB
disease_id: OMIM:610006
disease_name: 2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
gene_symbol: TRAF3
disease_id: OMIM:614849
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5
gene_symbol: SPTLC1
disease_id: OMIM:620285
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE
gene_symbol: ATOH1
disease_id: OMIM:620284
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 89
gene_symbol: COA8
disease_id: OMIM:619061
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17
gene_symbol: ABCB7
disease_id: OMIM:301310
disease_name: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
gene_symbol: UFSP2
disease_id: OMIM:142669
disease_name: BEUKES HIP DYSPLASIA
gene_symbol: PET117
disease_id: OMIM:619063
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19
gene_symbol: REEP1
disease_id: OMIM:610250
disease_name: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
gene_symbol: TICAM1
disease_id: OMIM:614850
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6
gene_symbol: DAB1
disease_id: OMIM:615945
disease_name: SPINOCEREBELLAR ATAXIA 37
gene_symbol: TUBB4A
disease_id: OMIM:612438
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 6
gene_symbol: GPIHBP1
disease_id: OMIM:615947
disease_name: HYPERLIPOPROTEINEMIA, TYPE ID
gene_symbol: FGD4
disease_id: OMIM:609311
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
gene_symbol: ALDH5A1
disease_id: OMIM:271980
disease_name: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: GBA1
disease_id: OMIM:231000
disease_name: GAUCHER DISEASE, TYPE III
gene_symbol: EXOC7
disease_id: OMIM:619072
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
gene_symbol: CYP3A4
disease_id: OMIM:619073
disease_name: VITAMIN D-DEPENDENT RICKETS, TYPE 3
gene_symbol: POMT1
disease_id: OMIM:609308
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1
gene_symbol: CNP
disease_id: OMIM:619071
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 20
gene_symbol: UPF3B
disease_id: OMIM:300676
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 14
gene_symbol: STAT3
disease_id: OMIM:615952
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: STK4
disease_id: OMIM:614868
disease_name: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS
gene_symbol: ADAMTS19
disease_id: OMIM:620067
disease_name: CARDIAC VALVULAR DYSPLASIA 2
gene_symbol: SLC12A6
disease_id: OMIM:620068
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II
gene_symbol: KLC2
disease_id: OMIM:609541
disease_name: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY
gene_symbol: CLCNKB
disease_id: OMIM:607364
disease_name: BARTTER SYNDROME, TYPE 3
gene_symbol: NR0B1
disease_id: OMIM:300200
disease_name: ADRENAL HYPOPLASIA, CONGENITAL
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: PEX10
disease_id: OMIM:614871
disease_name: PEROXISOME BIOGENESIS DISORDER 6B
gene_symbol: PEX16
disease_id: OMIM:614877
disease_name: PEROXISOME BIOGENESIS DISORDER 8B
gene_symbol: RPS26
disease_id: OMIM:613309
disease_name: DIAMOND-BLACKFAN ANEMIA 10
gene_symbol: CC2D1A
disease_id: OMIM:608443
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3
gene_symbol: SSBP1
disease_id: OMIM:165510
disease_name: OPTIC ATROPHY 13 WITH RETINAL AND FOVEAL ABNORMALITIES
gene_symbol: ICOS
disease_id: OMIM:607594
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 1
gene_symbol: OSMR
disease_id: OMIM:105250
disease_name: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
gene_symbol: WDR45
disease_id: OMIM:300894
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
gene_symbol: EMILIN1
disease_id: OMIM:620080
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 10
gene_symbol: EMILIN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: PCSK1
disease_id: OMIM:600955
disease_name: PROPROTEIN CONVERTASE 1/3 DEFICIENCY
gene_symbol: FBN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN1
disease_id: OMIM:129600
disease_name: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
gene_symbol: MFAP5
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: IPO8
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: THSD4
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SKI
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LOX
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ABL1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: RRM2B
disease_id: OMIM:268315
disease_name: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION
gene_symbol: NEMF
disease_id: OMIM:619099
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: PEX13
disease_id: OMIM:614885
disease_name: PEROXISOME BIOGENESIS DISORDER 11B
gene_symbol: ENPP1
disease_id: OMIM:613312
disease_name: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2
gene_symbol: ENPP1
disease_id: OMIM:615522
disease_name: COLE DISEASE
gene_symbol: KIF14
disease_id: OMIM:617914
disease_name: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE
gene_symbol: GH1
disease_id: OMIM:173100
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II
gene_symbol: VMA12
disease_id: OMIM:616829
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp
gene_symbol: CRAT
disease_id: OMIM:617917
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
gene_symbol: GBA2
disease_id: OMIM:614409
disease_name: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
gene_symbol: LIMS2
disease_id: OMIM:616827
disease_name: MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE
gene_symbol: LETM1
disease_id: OMIM:620089
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
gene_symbol: SERPING1
disease_id: OMIM:106100
disease_name: ANGIOEDEMA, HEREDITARY, TYPE I
gene_symbol: MMP2
disease_id: OMIM:259600
disease_name: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY
gene_symbol: NT5C3A
disease_id: OMIM:266120
disease_name: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
gene_symbol: NUP62
disease_id: OMIM:271930
disease_name: STRIATONIGRAL DEGENERATION, INFANTILE
gene_symbol: NLGN3
disease_id: OMIM:300425
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1
gene_symbol: COQ6
disease_id: OMIM:614650
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 6
gene_symbol: PIGM
disease_id: OMIM:610293
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1
gene_symbol: GALC
disease_id: OMIM:245200
disease_name: KRABBE DISEASE
gene_symbol: PRX
disease_id: OMIM:614895
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
gene_symbol: GPNMB
disease_id: OMIM:617920
disease_name: AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 3
gene_symbol: IRF8
disease_id: OMIM:614893
disease_name: IMMUNODEFICIENCY 32A
gene_symbol: CILK1
disease_id: OMIM:617924
disease_name: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10
gene_symbol: MSMO1
disease_id: OMIM:616834
disease_name: MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS
gene_symbol: VPS37A
disease_id: OMIM:614898
disease_name: SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE
gene_symbol: CPA6
disease_id: OMIM:614417
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5
gene_symbol: CBFB
disease_id: OMIM:620099
disease_name: CLEIDOCRANIAL DYSPLASIA 2
gene_symbol: GBF1
disease_id: OMIM:606483
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A
gene_symbol: DYM
disease_id: OMIM:607326
disease_name: SMITH-MCCORT DYSPLASIA 1
gene_symbol: DYM
disease_id: OMIM:223800
disease_name: DYGGVE-MELCHIOR-CLAUSEN DISEASE
gene_symbol: APCDD1
disease_id: OMIM:605389
disease_name: HYPOTRICHOSIS 1
gene_symbol: UNC13D
disease_id: OMIM:608898
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
gene_symbol: NKX2-1
disease_id: OMIM:118700
disease_name: CHOREA, BENIGN HEREDITARY
gene_symbol: MARS2
disease_id: OMIM:611390
disease_name: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE
gene_symbol: GUCY1A1
disease_id: OMIM:615750
disease_name: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA
gene_symbol: BFSP1
disease_id: OMIM:611391
disease_name: CATARACT 33, MULTIPLE TYPES
gene_symbol: DNASE1L3
disease_id: OMIM:614420
disease_name: SYSTEMIC LUPUS ERYTHEMATOSUS 16
gene_symbol: CA5A
disease_id: OMIM:615751
disease_name: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: SCN3A
disease_id: OMIM:617935
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 4
gene_symbol: SCN3A
disease_id: OMIM:617938
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 62
gene_symbol: LCK
disease_id: OMIM:615758
disease_name: IMMUNODEFICIENCY 22
gene_symbol: NGF
disease_id: OMIM:608654
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI
gene_symbol: HYDIN
disease_id: OMIM:608647
disease_name: CILIARY DYSKINESIA, PRIMARY, 5
gene_symbol: VPS13D
disease_id: OMIM:607317
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
gene_symbol: PCDH19
disease_id: OMIM:300088
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9
gene_symbol: STXBP2
disease_id: OMIM:613101
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
gene_symbol: EFL1
disease_id: OMIM:617941
disease_name: SHWACHMAN-DIAMOND SYNDROME 2
gene_symbol: COQ8A
disease_id: OMIM:612016
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 4
gene_symbol: TRAF3IP2
disease_id: OMIM:615527
disease_name: CANDIDIASIS, FAMILIAL, 8
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
gene_symbol: IFIH1
disease_id: OMIM:182250
disease_name: SINGLETON-MERTEN SYNDROME 1
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: SLC4A4
disease_id: OMIM:604278
disease_name: RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION
gene_symbol: INSR
disease_id: OMIM:609968
disease_name: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5
gene_symbol: ATP13A3
disease_id: OMIM:265400
disease_name: PULMONARY HYPERTENSION, PRIMARY, 5
gene_symbol: PMPCB
disease_id: OMIM:617954
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6
gene_symbol: ERCC4
disease_id: OMIM:278760
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F
gene_symbol: PPP3CA
disease_id: OMIM:617711
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91
gene_symbol: RORC
disease_id: OMIM:616622
disease_name: IMMUNODEFICIENCY 42
gene_symbol: EPRS1
disease_id: OMIM:617951
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 15
gene_symbol: ADAM10
disease_id: OMIM:615537
disease_name: RETICULATE ACROPIGMENTATION OF KITAMURA
gene_symbol: RETREG1
disease_id: OMIM:613115
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB
gene_symbol: IL36RN
disease_id: OMIM:614204
disease_name: PSORIASIS 14, PUSTULAR
gene_symbol: TGFBI
disease_id: OMIM:607541
disease_name: CORNEAL DYSTROPHY, AVELLINO TYPE
gene_symbol: FDXR
disease_id: OMIM:617717
disease_name: AUDITORY NEUROPATHY AND OPTIC ATROPHY
gene_symbol: MMUT
disease_id: OMIM:251000
disease_name: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY
gene_symbol: CYP7B1
disease_id: OMIM:270800
disease_name: SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE
gene_symbol: SMPX
disease_id: OMIM:300066
disease_name: DEAFNESS, X-LINKED 4
gene_symbol: SYNE4
disease_id: OMIM:615540
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 76
gene_symbol: TULP3
disease_id: OMIM:619902
disease_name: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS
gene_symbol: IKZF1
disease_id: OMIM:616873
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 13
gene_symbol: AGA
disease_id: OMIM:208400
disease_name: ASPARTYLGLUCOSAMINURIA
gene_symbol: TANGO2
disease_id: OMIM:616878
disease_name: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
gene_symbol: STAT2
disease_id: OMIM:616636
disease_name: IMMUNODEFICIENCY 44
gene_symbol: TPK1
disease_id: OMIM:614458
disease_name: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
gene_symbol: FOXP2
disease_id: OMIM:602081
disease_name: SPEECH-LANGUAGE DISORDER 1
gene_symbol: TIAM1
disease_id: OMIM:619908
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND SEIZURES
gene_symbol: NEK8
disease_id: OMIM:620903
disease_name: OMIM:620903
gene_symbol: TPRKB
disease_id: OMIM:617731
disease_name: GALLOWAY-MOWAT SYNDROME 5
gene_symbol: SYT14
disease_id: OMIM:614229
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
gene_symbol: ATP2B1
disease_id: OMIM:619910
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66
gene_symbol: PLCG2
disease_id: OMIM:614468
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3
gene_symbol: NR4A2
disease_id: OMIM:619911
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
gene_symbol: EDARADD
disease_id: OMIM:224900
disease_name: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: EDAR
disease_id: OMIM:224900
disease_name: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: CFB
disease_id: OMIM:615561
disease_name: COMPLEMENT FACTOR B DEFICIENCY
gene_symbol: COPA
disease_id: OMIM:616414
disease_name: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE
gene_symbol: SLC34A1
disease_id: OMIM:613388
disease_name: FANCONI RENOTUBULAR SYNDROME 2
gene_symbol: GTPBP2
disease_id: OMIM:617988
disease_name: JABERI-ELAHI SYNDROME
gene_symbol: HINT1
disease_id: OMIM:137200
disease_name: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
gene_symbol: NLGN4X
disease_id: OMIM:300495
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2
gene_symbol: DKC1
disease_id: OMIM:301108
disease_name: CATARACTS, HEARING IMPAIRMENT, NEPHROTIC SYNDROME, AND ENTEROCOLITIS 1
gene_symbol: DOCK11
disease_id: OMIM:301109
disease_name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
gene_symbol: SLC6A1
disease_id: OMIM:616421
disease_name: MYOCLONIC-ATONIC EPILEPSY
gene_symbol: COQ8B
disease_id: OMIM:615573
disease_name: NEPHROTIC SYNDROME, TYPE 9
gene_symbol: FKTN
disease_id: OMIM:613152
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 4
gene_symbol: RAC1
disease_id: OMIM:617751
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48
gene_symbol: KRT83
disease_id: OMIM:617756
disease_name: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 5
gene_symbol: NFKB2
disease_id: OMIM:615577
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 10
gene_symbol: PRKRA
disease_id: OMIM:612067
disease_name: DYSTONIA 16
gene_symbol: POMT2
disease_id: OMIM:613158
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2
gene_symbol: BANF1
disease_id: OMIM:614008
disease_name: NESTOR-GUILLERMO PROGERIA SYNDROME
gene_symbol: PSMD12
disease_id: OMIM:617516
disease_name: STANKIEWICZ-ISIDOR SYNDROME
gene_symbol: MED23
disease_id: OMIM:614249
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18
gene_symbol: PRKAG2
disease_id: OMIM:194200
disease_name: WOLFF-PARKINSON-WHITE SYNDROME
gene_symbol: XPC
disease_id: OMIM:278720
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
gene_symbol: RPS19
disease_id: OMIM:105650
disease_name: DIAMOND-BLACKFAN ANEMIA 1
gene_symbol: GCDH
disease_id: OMIM:231670
disease_name: GLUTARIC ACIDEMIA I
gene_symbol: CASR
disease_id: OMIM:601198
disease_name: HYPOCALCEMIA, AUTOSOMAL DOMINANT 1
gene_symbol: MCTS1
disease_id: OMIM:301115
disease_name: IMMUNODEFICIENCY 118
gene_symbol: CSTF2
disease_id: OMIM:301116
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 113
gene_symbol: CAV1
disease_id: OMIM:615343
disease_name: PULMONARY HYPERTENSION, PRIMARY, 3
gene_symbol: NT5C2
disease_id: OMIM:613162
disease_name: SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE
gene_symbol: MAP3K20
disease_id: OMIM:617760
disease_name: MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION
gene_symbol: CACNG2
disease_id: OMIM:614256
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 10
gene_symbol: PI4KA
disease_id: OMIM:619708
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2
gene_symbol: PRDX1
disease_id: OMIM:277400
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
gene_symbol: DOK7
disease_id: OMIM:254300
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 10