TaoMedAI/RareMedData huggingface dataset:
Gene: GLRA1
Disease: Hereditary hyperekplexia; Congenital stiff man syndrome; Familial startle disease; Hereditary hyperexplexia; Kok disease; Stiff baby syndrome (ORPHA:3197)
Association type: UNKNOWN
Gene: ZSCAN10
Disease:  (OMIM:620910)
Association type: MENDELIAN
Gene: SHQ1
Disease: DYSTONIA 35, CHILDHOOD-ONSET (OMIM:619921)
Association type: MENDELIAN
Gene: SHQ1
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES (OMIM:619922)
Association type: MENDELIAN
Gene: SHQ1
Disease: Early-onset generalized limb-onset dystonia; Dystonia musculorum deformans; EOTD; Early-onset generalized torsion dystonia; Early-onset isolated dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Idiopathic torsion dystonia; Oppenheim dystonia (ORPHA:256)
Association type: UNKNOWN
Gene: BMS1
Disease: APLASIA CUTIS CONGENITA, NONSYNDROMIC (OMIM:107600)
Association type: MENDELIAN
Gene: BMS1
Disease: Aplasia cutis congenita (ORPHA:1114)
Association type: UNKNOWN
Gene: GNMT
Disease: GLYCINE N-METHYLTRANSFERASE DEFICIENCY (OMIM:606664)
Association type: MENDELIAN
Gene: GNMT
Disease: Hypermethioninemia due to glycine N-methyltransferase deficiency; Glycine N-methyltransferase deficiency; Hypermethioninemia due to GNMT deficiency (ORPHA:289891)
Association type: UNKNOWN
Gene: CFAP57
Disease:  (OMIM:620917)
Association type: MENDELIAN
Gene: IFNAR1
Disease: IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS (OMIM:619935)
Association type: MENDELIAN
Gene: POU3F3
Disease: SNIJDERS BLOK-FISHER SYNDROME (OMIM:618604)
Association type: MENDELIAN
Gene: POU3F3
Disease: Intellectual disability-cupped ears syndrome; Snijders Blok-Fisher syndrome (ORPHA:656135)
Association type: UNKNOWN
Gene: VPS51
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 (OMIM:618606)
Association type: MENDELIAN
Gene: RAB32
Disease:  (OMIM:620923)
Association type: POLYGENIC
Gene: KMT2B
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68 (OMIM:619934)
Association type: MENDELIAN
Gene: KMT2B
Disease: DYSTONIA 28, CHILDHOOD-ONSET (OMIM:617284)
Association type: MENDELIAN
Gene: KMT2B
Disease: Dystonia 28; DYT28; KMT2B-related dystonia (ORPHA:589618)
Association type: UNKNOWN
Gene: KMT2B
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: POLR2A
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES (OMIM:618603)
Association type: MENDELIAN
Gene: CNOT2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES (OMIM:618608)
Association type: MENDELIAN
Gene: CNOT2
Disease:  (ORPHA:697764)
Association type: UNKNOWN
Gene: CNOT2
Disease: 12q15q21.1 microdeletion syndrome; Del(12)(q15)(q21.1); Deletion 12q15q21.1; Monosomy 12q15q21.1 (ORPHA:289513)
Association type: UNKNOWN
Gene: MYMX
Disease: CAREY-FINEMAN-ZITER SYNDROME 2 (OMIM:619941)
Association type: MENDELIAN
Gene: MYMX
Disease: Carey-Fineman-Ziter syndrome; Myopathy-Moebius-Robin syndrome (ORPHA:1358)
Association type: UNKNOWN
Gene: FLT3LG
Disease:  (OMIM:620926)
Association type: MENDELIAN
Gene: HAL
Disease: HISTIDINEMIA (OMIM:235800)
Association type: MENDELIAN
Gene: HAL
Disease: Histidinemia; HAL deficiency; HIS deficiency; Histidase deficiency; Histidine ammonia-lyase deficiency; Histidinuria; Hyperhistidinemia (ORPHA:2157)
Association type: UNKNOWN
Gene: SHOC1
Disease: SPERMATOGENIC FAILURE 75 (OMIM:619949)
Association type: MENDELIAN
Gene: SHOC1
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: PTCRA
Disease:  (OMIM:620931)
Association type: MENDELIAN
Gene: BNC2
Disease: LOWER URINARY TRACT OBSTRUCTION, CONGENITAL (OMIM:618612)
Association type: MENDELIAN
Gene: BNC2
Disease: Posterior urethral valve; PUV (ORPHA:93110)
Association type: UNKNOWN
Gene: ZNF462
Disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Association type: MENDELIAN
Gene: ZNF462
Disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Association type: UNKNOWN
Gene: TSHZ1
Disease: AURAL ATRESIA, CONGENITAL (OMIM:607842)
Association type: MENDELIAN
Gene: TSHZ1
Disease: External auditory canal aplasia/hypoplasia; External auditory canal stenosis/atresia (ORPHA:141074)
Association type: UNKNOWN
Gene: ZSWIM7
Disease: SPERMATOGENIC FAILURE 71 (OMIM:619831)
Association type: MENDELIAN
Gene: ZSWIM7
Disease: OVARIAN DYSGENESIS 10 (OMIM:619834)
Association type: MENDELIAN
Gene: ZSWIM7
Disease: 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; 46,XX ovarian dysgenesis; 46,XX pure gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD (ORPHA:243)
Association type: UNKNOWN
Gene: RFX5
Disease: MHC CLASS II DEFICIENCY 5 (OMIM:620818)
Association type: MENDELIAN
Gene: RFX5
Disease: MHC CLASS II DEFICIENCY 3 (OMIM:620816)
Association type: MENDELIAN
Gene: RFX5
Disease: Immunodeficiency by defective expression of MHC class II; Bare lymphocyte syndrome type 2; MHC class II deficiency (ORPHA:572)
Association type: UNKNOWN
Gene: RFXAP
Disease: MHC CLASS II DEFICIENCY 4 (OMIM:620817)
Association type: MENDELIAN
Gene: RFXAP
Disease: Immunodeficiency by defective expression of MHC class II; Bare lymphocyte syndrome type 2; MHC class II deficiency (ORPHA:572)
Association type: UNKNOWN
Gene: ICOSLG
Disease: IMMUNODEFICIENCY 119 (OMIM:620825)
Association type: MENDELIAN
Gene: ICOSLG
Disease:  (ORPHA:695191)
Association type: UNKNOWN
Gene: KDM6B
Disease: NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES (OMIM:618505)
Association type: MENDELIAN
Gene: SOX4
Disease: COFFIN-SIRIS SYNDROME 10 (OMIM:618506)
Association type: MENDELIAN
Gene: SOX4
Disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Association type: UNKNOWN
Gene: CACNA2D2
Disease: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY (OMIM:618501)
Association type: MENDELIAN
Gene: NRCAM
Disease: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES (OMIM:619833)
Association type: MENDELIAN
Gene: NRCAM
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: KDM5A
Disease: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME (OMIM:620820)
Association type: MENDELIAN
Gene: ALKBH8
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 (OMIM:618504)
Association type: MENDELIAN
Gene: ALKBH8
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: FOXD3
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:607836)
Association type: POLYGENIC
Gene: MYOC
Disease: GLAUCOMA 1, OPEN ANGLE, A (OMIM:137750)
Association type: MENDELIAN
Gene: MYOC
Disease: Congenital glaucoma; Buphthalmia; Buphthalmos; Buphthalmus; Primary congenital glaucoma (ORPHA:98976)
Association type: UNKNOWN
Gene: MYOC
Disease: Juvenile glaucoma (ORPHA:98977)
Association type: UNKNOWN
Gene: CD2AP
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO (OMIM:607832)
Association type: MENDELIAN
Gene: CD2AP
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: TUBA8
Disease: MACROTHROMBOCYTOPENIA, ISOLATED, 2, AUTOSOMAL DOMINANT (OMIM:619840)
Association type: MENDELIAN
Gene: TUBA8
Disease: Polymicrogyria with optic nerve hypoplasia (ORPHA:250972)
Association type: UNKNOWN
Gene: TUBA8
Disease: Autosomal dominant macrothrombocytopenia (ORPHA:140957)
Association type: UNKNOWN
Gene: CDC42BPB
Disease: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME (OMIM:619841)
Association type: MENDELIAN
Gene: PDXK
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY (OMIM:618511)
Association type: MENDELIAN
Gene: DTYMK
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY (OMIM:619847)
Association type: MENDELIAN
Gene: ZFYVE19
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Association type: MENDELIAN
Gene: KMT2E
Disease: O'DONNELL-LURIA-RODAN SYNDROME (OMIM:618512)
Association type: MENDELIAN
Gene: KMT2E
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: NUDT2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY (OMIM:619844)
Association type: MENDELIAN
Gene: NUDT2
Disease:  (ORPHA:694937)
Association type: UNKNOWN
Gene: NAA80
Disease:  (OMIM:620830)
Association type: MENDELIAN
Gene: CTNNBL1
Disease: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS (OMIM:619846)
Association type: MENDELIAN
Gene: CAMK2G
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Association type: MENDELIAN
Gene: CCIN
Disease: SPERMATOGENIC FAILURE 91 (OMIM:620838)
Association type: MENDELIAN
Gene: SLC24A5
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI (OMIM:113750)
Association type: MENDELIAN
Gene: SLC24A5
Disease: Oculocutaneous albinism type 6; OCA6 (ORPHA:370097)
Association type: UNKNOWN
Gene: DNASE2
Disease: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME (OMIM:619858)
Association type: MENDELIAN
Gene: LRRC23
Disease: SPERMATOGENIC FAILURE 92 (OMIM:620848)
Association type: MENDELIAN
Gene: PAICS
Disease: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY (OMIM:619859)
Association type: MENDELIAN
Gene: GNAI1
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619854)
Association type: MENDELIAN
Gene: DIO1
Disease: THYROID HORMONE METABOLISM, ABNORMAL, 2 (OMIM:619855)
Association type: MENDELIAN
Gene: CCDC28B
Disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Association type: POLYGENIC
Gene: SYCP2L
Disease: PREMATURE OVARIAN FAILURE 24 (OMIM:620840)
Association type: MENDELIAN
Gene: SEC23A
Disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Association type: MENDELIAN
Gene: SEC23A
Disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Association type: UNKNOWN
Gene: PRDX3
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32 (OMIM:619862)
Association type: MENDELIAN
Gene: PRDX3
Disease: CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET (OMIM:619871)
Association type: MENDELIAN
Gene: MT-TI
Disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Association type: MENDELIAN
Gene: MT-TI
Disease: Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation; Gitelman-like kidney tubulopathy due to mtDNA mutation (ORPHA:620371)
Association type: UNKNOWN
Gene: MT-TP
Disease: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS (OMIM:545000)
Association type: MENDELIAN
Gene: MT-TP
Disease: MERRF; Fukuhara syndrome; Myoclonus epilepsy associated with ragged-red fibres (ORPHA:551)
Association type: UNKNOWN
Gene: FBP2
Disease: LEUKODYSTROPHY, CHILDHOOD-ONSET, REMITTING (OMIM:619864)
Association type: MENDELIAN
Gene: NEDD4L
Disease: PERIVENTRICULAR NODULAR HETEROTOPIA 7 (OMIM:617201)
Association type: MENDELIAN
Gene: NEDD4L
Disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Association type: UNKNOWN
Gene: STK33
Disease:  (OMIM:620849)
Association type: MENDELIAN
Gene: MAPKAPK5
Disease: NEUROCARDIOFACIODIGITAL SYNDROME (OMIM:619869)
Association type: MENDELIAN
Gene: RASGRP1
Disease: IMMUNODEFICIENCY 64 (OMIM:618534)
Association type: MENDELIAN
Gene: RASGRP1
Disease: EBV-induced lymphoproliferative disease due to RASGRP1 deficiency; Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency (ORPHA:664699)
Association type: UNKNOWN
Gene: CST6
Disease: ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPE (OMIM:618535)
Association type: MENDELIAN
Gene: WBP4
Disease:  (OMIM:620852)
Association type: MENDELIAN
Gene: CCDC146
Disease:  (OMIM:620850)
Association type: MENDELIAN
Gene: RNU4-2
Disease:  (OMIM:620851)
Association type: MENDELIAN
Gene: RNU4-2
Disease: RNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndrome; RNU4-2-related neurodevelopmental syndrome (ORPHA:686488)
Association type: UNKNOWN
Gene: POLR3F
Disease: IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC) (OMIM:619872)
Association type: MENDELIAN
Gene: SHPK
Disease: SEDOHEPTULOKINASE DEFICIENCY (OMIM:617213)
Association type: MENDELIAN
Gene: SHPK
Disease: Isolated sedoheptulokinase deficiency; Isolated SHPK deficiency (ORPHA:440713)
Association type: UNKNOWN
Gene: POLD3
Disease:  (OMIM:620869)
Association type: MENDELIAN
Gene: IL18BP
Disease: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO (OMIM:618549)
Association type: POLYGENIC
Gene: GPR68
Disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6 (OMIM:617217)
Association type: MENDELIAN
Gene: GPR68
Disease: Hypomaturation amelogenesis imperfecta; Amelogenesis imperfecta type 2 (ORPHA:100033)
Association type: UNKNOWN
Gene: PLCZ1
Disease: SPERMATOGENIC FAILURE 17 (OMIM:617214)
Association type: MENDELIAN
Gene: CPSF3
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES (OMIM:619876)
Association type: MENDELIAN
Gene: CPSF3
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: ZNF526
Disease: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME (OMIM:619877)
Association type: MENDELIAN
Gene: ZNF526
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: TARS1
Disease: TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE (OMIM:618546)
Association type: MENDELIAN
Gene: TARS1
Disease: Trichothiodystrophy (ORPHA:33364)
Association type: UNKNOWN
Gene: MOV10L1
Disease: SPERMATOGENIC FAILURE 73 (OMIM:619878)
Association type: MENDELIAN
Gene: MOV10L1
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: TXNDC15
Disease: MECKEL SYNDROME 14 (OMIM:619879)
Association type: MENDELIAN
Gene: TXNDC15
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: PIGQ
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 (OMIM:618548)
Association type: MENDELIAN
Gene: PIGQ
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: PCDHGC4
Disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Association type: MENDELIAN
Gene: PCDHGC4
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: SLC38A3
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 (OMIM:619881)
Association type: MENDELIAN
Gene: SLC38A3
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: PANX1
Disease: OOCYTE MATURATION DEFECT 7 (OMIM:618550)
Association type: MENDELIAN
Gene: PANX1
Disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Association type: UNKNOWN
Gene: MIPEP
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 (OMIM:617228)
Association type: MENDELIAN
Gene: MIPEP
Disease: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome (ORPHA:478049)
Association type: UNKNOWN
Gene: BLM
Disease: BLOOM SYNDROME (OMIM:210900)
Association type: MENDELIAN
Gene: BLM
Disease: Bloom syndrome; BSyn (ORPHA:125)
Association type: UNKNOWN
Gene: GFRA1
Disease: RENAL HYPODYSPLASIA/APLASIA 4 (OMIM:619887)
Association type: MENDELIAN
Gene: GFRA1
Disease: Renal agenesis, bilateral (ORPHA:1848)
Association type: UNKNOWN
Gene: GAS2
Disease:  (OMIM:620877)
Association type: MENDELIAN
Gene: GABRA5
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79 (OMIM:618559)
Association type: MENDELIAN
Gene: GABRA5
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: PLCH1
Disease: HOLOPROSENCEPHALY 14 (OMIM:619895)
Association type: MENDELIAN
Gene: PLCH1
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: LMOD2
Disease: CARDIOMYOPATHY, DILATED, 2G (OMIM:619897)
Association type: MENDELIAN
Gene: LMOD2
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: PADI6
Disease: PREIMPLANTATION EMBRYONIC LETHALITY 2 (OMIM:617234)
Association type: MENDELIAN
Gene: SLC18A3
Disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Association type: MENDELIAN
Gene: SLC18A3
Disease: Fetal akinesia deformation sequence; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; FADS; Pena-Shokeir syndrome type 1 (ORPHA:994)
Association type: UNKNOWN
Gene: SLC18A3
Disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Association type: UNKNOWN
Gene: MRM2
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (OMIM:618567)
Association type: MENDELIAN
Gene: GTPBP1
Disease:  (OMIM:620888)
Association type: MENDELIAN
Gene: SVBP
Disease: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY (OMIM:618569)
Association type: MENDELIAN
Gene: SVBP
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: FAH
Disease: TYROSINEMIA, TYPE I (OMIM:276700)
Association type: MENDELIAN
Gene: FAH
Disease: Tyrosinemia type 1; FAH deficiency; Fumarylacetoacetase deficiency; Fumarylacetoacetate hydrolase deficiency; Hepatorenal tyrosinemia; Tyrosinemia type I (ORPHA:882)
Association type: UNKNOWN
Gene: SI
Disease: SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL (OMIM:222900)
Association type: MENDELIAN
Gene: SI
Disease: Congenital sucrase-isomaltase deficiency; CSID; Congenital sucrose intolerance; Disaccharide intolerance (ORPHA:35122)
Association type: UNKNOWN
Gene: NSMCE3
Disease: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME (OMIM:617241)
Association type: MENDELIAN
Gene: INTS1
Disease: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES (OMIM:618571)
Association type: MENDELIAN
Gene: INTS8
Disease: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY (OMIM:618572)
Association type: MENDELIAN
Gene: TRHR
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 7 (OMIM:618573)
Association type: MENDELIAN
Gene: TRHR
Disease: Resistance to thyrotropin-releasing hormone syndrome; Central hypothyroidism due to TRH receptor deficiency; TRH resistance syndrome (ORPHA:99832)
Association type: UNKNOWN
Gene: MAD2L2
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
Association type: MENDELIAN
Gene: MAD2L2
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: PAX7
Disease: MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS (OMIM:618578)
Association type: MENDELIAN
Gene: PAX7
Disease: RHABDOMYOSARCOMA 2 (OMIM:268220)
Association type: MENDELIAN
Gene: PAX7
Disease: Alveolar rhabdomyosarcoma (ORPHA:99756)
Association type: UNKNOWN
Gene: HROB
Disease:  (OMIM:620897)
Association type: MENDELIAN
Gene: MYZAP
Disease:  (OMIM:620894)
Association type: MENDELIAN
Gene: ARSA
Disease: METACHROMATIC LEUKODYSTROPHY (OMIM:250100)
Association type: MENDELIAN
Gene: ARSA
Disease: Metachromatic leukodystrophy, adult form; Arylsulfatase A deficiency, adult form; MLD, adult form (ORPHA:309271)
Association type: UNKNOWN
Gene: ARSA
Disease: Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form; MLD, juvenile form (ORPHA:309263)
Association type: UNKNOWN
Gene: ARSA
Disease: Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form; MLD, late infantile form (ORPHA:309256)
Association type: UNKNOWN
Gene: IGSF3
Disease: LACRIMAL DUCT DEFECT (OMIM:149700)
Association type: MENDELIAN
Gene: IGSF3
Disease: Familial congenital nasolacrimal duct obstruction (ORPHA:451612)
Association type: UNKNOWN
Gene: ACVRL1
Disease: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 (OMIM:600376)
Association type: MENDELIAN
Gene: ACVRL1
Disease: Heritable pulmonary arterial hypertension; FPAH; Familial pulmonary arterial hypertension; HPAH; Hereditary pulmonary arterial hypertension (ORPHA:275777)
Association type: UNKNOWN
Gene: ACVRL1
Disease: Hereditary hemorrhagic telangiectasia; HHT; Rendu-Osler disease; Rendu-Osler-Weber disease (ORPHA:774)
Association type: UNKNOWN
Gene: PIGB
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80 (OMIM:618580)
Association type: MENDELIAN
Gene: TCHH
Disease: UNCOMBABLE HAIR SYNDROME 3 (OMIM:617252)
Association type: MENDELIAN
Gene: AP2M1
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES (OMIM:618587)
Association type: MENDELIAN
Gene: AP2M1
Disease: Myoclonic-astatic epilepsy; Doose syndrome; EMAS; Epilepsy with myoclonic-astatic seizures; Epilepsy with myoclonic-atonic seizures; MAE; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy in early childhood (ORPHA:1942)
Association type: UNKNOWN
Gene: TGM3
Disease: UNCOMBABLE HAIR SYNDROME 2 (OMIM:617251)
Association type: MENDELIAN
Gene: TGM3
Disease: Uncombable hair syndrome; Pili trianguli et canaliculi (ORPHA:1410)
Association type: UNKNOWN
Gene: DIAPH2
Disease: PREMATURE OVARIAN FAILURE 2A (OMIM:300511)
Association type: MENDELIAN
Gene: BMP15
Disease: OVARIAN DYSGENESIS 2 (OMIM:300510)
Association type: MENDELIAN
Gene: BMP15
Disease: 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; 46,XX ovarian dysgenesis; 46,XX pure gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD (ORPHA:243)
Association type: UNKNOWN
Gene: BMP15
Disease: Malignant teratoma of ovary; Immature teratoma of ovary; Ovarian immature teratoma; Ovarian malignant teratoma (ORPHA:398987)
Association type: UNKNOWN
Gene: TMTC3
Disease: LISSENCEPHALY 8 (OMIM:617255)
Association type: MENDELIAN
Gene: TMTC3
Disease: Periventricular nodular heterotopia; PVNH (ORPHA:98892)
Association type: UNKNOWN
Gene: PYROXD1
Disease: MYOPATHY, MYOFIBRILLAR, 8 (OMIM:617258)
Association type: MENDELIAN
Gene: OGDH
Disease: ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY (OMIM:203740)
Association type: MENDELIAN
Gene: OGDH
Disease: Oxoglutaric aciduria; Alpha-ketoglutarate dehydrogenase deficiency (ORPHA:31)
Association type: UNKNOWN
Gene: PIGU
Disease: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS (OMIM:618590)
Association type: MENDELIAN
Gene: NIPA1
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (OMIM:600363)
Association type: MENDELIAN
Gene: NIPA1
Disease: Autosomal dominant spastic paraplegia type 6; SPG6 (ORPHA:100988)
Association type: UNKNOWN
Gene: NIPA1
Disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Association type: UNKNOWN
Gene: ZNF148
Disease: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES (OMIM:617260)
Association type: MENDELIAN
Gene: SLC16A2
Disease: ALLAN-HERNDON-DUDLEY SYNDROME (OMIM:300523)
Association type: MENDELIAN
Gene: SLC16A2
Disease: Allan-Herndon-Dudley syndrome; AHDS; MCT8 deficiency; Monocarboxylate transporter 8 deficiency; X-linked intellectual disability-hypotonia syndrome (ORPHA:59)
Association type: UNKNOWN
Gene: HECW2
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE (OMIM:617268)
Association type: MENDELIAN
Gene: AVIL
Disease: NEPHROTIC SYNDROME, TYPE 21 (OMIM:618594)
Association type: MENDELIAN
Gene: AVIL
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: MAPKBP1
Disease: NEPHRONOPHTHISIS 20 (OMIM:617271)
Association type: MENDELIAN