TaoMedAI/RareMedData huggingface dataset:
Gene: AGT
Disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Association type: MENDELIAN
Gene: AGT
Disease: Renal tubular dysgenesis of genetic origin (ORPHA:97369)
Association type: UNKNOWN
Gene: AGTR1
Disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Association type: MENDELIAN
Gene: AGTR1
Disease: HYPERTENSION, ESSENTIAL (OMIM:145500)
Association type: POLYGENIC
Gene: AGTR1
Disease: Renal tubular dysgenesis of genetic origin (ORPHA:97369)
Association type: UNKNOWN
Gene: MID1
Disease: OPITZ GBBB SYNDROME, TYPE I (OMIM:300000)
Association type: MENDELIAN
Gene: MID1
Disease: Opitz GBBB syndrome; Hypertelorism-hypospadias syndrome; Hypertelorism-oesophageal abnormality-hypospadias syndrome; Hypospadias-dysphagia syndrome; Opitz BBB/G syndrome; Opitz BBBG syndrome; Opitz G/BBB syndrome; Opitz-Frias syndrome (ORPHA:2745)
Association type: UNKNOWN
Gene: SCO1
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4 (OMIM:619048)
Association type: MENDELIAN
Gene: SCO1
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Association type: MENDELIAN
Gene: SCO1
Disease: Fatal infantile cytochrome C oxidase deficiency; Fatal infantile COX deficiency; Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency (ORPHA:1561)
Association type: UNKNOWN
Gene: AP1B1
Disease: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:242150)
Association type: MENDELIAN
Gene: AP1B1
Disease: MEDNIK syndrome; Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome; Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome (ORPHA:171851)
Association type: UNKNOWN
Gene: CEP112
Disease: SPERMATOGENIC FAILURE 44 (OMIM:619044)
Association type: MENDELIAN
Gene: COX10
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3 (OMIM:619046)
Association type: MENDELIAN
Gene: COX10
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Association type: MENDELIAN
Gene: COX10
Disease: Isolated cytochrome C oxidase deficiency; Isolated COX deficiency; Isolated mitochondrial respiratory chain complex IV deficiency (ORPHA:254905)
Association type: UNKNOWN
Gene: RNF213
Disease: MOYAMOYA DISEASE 2 (OMIM:607151)
Association type: POLYGENIC
Gene: RNF213
Disease: Moyamoya disease; Idiopathic Moyamoya disease (ORPHA:2573)
Association type: UNKNOWN
Gene: PSMB1
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE (OMIM:620038)
Association type: MENDELIAN
Gene: PSMB1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PSMB1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PPOX
Disease: VARIEGATE PORPHYRIA (OMIM:176200)
Association type: MENDELIAN
Gene: PPOX
Disease: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET (OMIM:620483)
Association type: MENDELIAN
Gene: PPOX
Disease: Variegate porphyria; Porphyria variegata; Protoporphyrinogen oxidase deficiency (ORPHA:79473)
Association type: UNKNOWN
Gene: NME5
Disease: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS (OMIM:620032)
Association type: MENDELIAN
Gene: NME5
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: NAPB
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Association type: MENDELIAN
Gene: FKRP
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 (OMIM:607155)
Association type: MENDELIAN
Gene: FKRP
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Association type: MENDELIAN
Gene: FKRP
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 (OMIM:613153)
Association type: MENDELIAN
Gene: FKRP
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 (OMIM:606612)
Association type: MENDELIAN
Gene: FKRP
Disease: FKRP-related limb-girdle muscular dystrophy R9; Autosomal recessive limb-girdle muscular dystrophy type 2I; FKRP-related LGMD R9; LGMD due to FKRP deficiency; LGMD type 2I; LGMD2I; Limb-girdle muscular dystrophy due to FKRP deficiency; Limb-girdle muscular dystrophy type 2I (ORPHA:34515)
Association type: UNKNOWN
Gene: FKRP
Disease: Congenital muscular dystrophy with intellectual disability; CMD with intellectual disability; CMD-MR (ORPHA:370968)
Association type: UNKNOWN
Gene: FKRP
Disease: Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; CMD-no MR; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Association type: UNKNOWN
Gene: FKRP
Disease: Congenital muscular dystrophy with cerebellar involvement; CMD with cerebellar involvement; CMD-CRB (ORPHA:370959)
Association type: UNKNOWN
Gene: FKRP
Disease: Walker-Warburg syndrome; HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; WWS (ORPHA:899)
Association type: UNKNOWN
Gene: FKRP
Disease: Muscle-eye-brain disease; MEB syndrome; Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy (ORPHA:588)
Association type: UNKNOWN
Gene: TYMS
Disease: DYSKERATOSIS CONGENITA, DIGENIC (OMIM:620040)
Association type: MENDELIAN
Gene: TYMS
Disease: Dyskeratosis congenita; DC; DKC; Zinsser-Engman-Cole syndrome (ORPHA:1775)
Association type: UNKNOWN
Gene: COX6B1
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7 (OMIM:619051)
Association type: MENDELIAN
Gene: COX6B1
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Association type: MENDELIAN
Gene: COX6B1
Disease: Isolated cytochrome C oxidase deficiency; Isolated COX deficiency; Isolated mitochondrial respiratory chain complex IV deficiency (ORPHA:254905)
Association type: UNKNOWN
Gene: TACO1
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8 (OMIM:619052)
Association type: MENDELIAN
Gene: TACO1
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Association type: MENDELIAN
Gene: COX14
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10 (OMIM:619053)
Association type: MENDELIAN
Gene: COX14
Disease: Isolated cytochrome C oxidase deficiency; Isolated COX deficiency; Isolated mitochondrial respiratory chain complex IV deficiency (ORPHA:254905)
Association type: UNKNOWN
Gene: COA3
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14 (OMIM:619058)
Association type: MENDELIAN
Gene: COA3
Disease: Isolated cytochrome C oxidase deficiency; Isolated COX deficiency; Isolated mitochondrial respiratory chain complex IV deficiency (ORPHA:254905)
Association type: UNKNOWN
Gene: COX8A
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15 (OMIM:619059)
Association type: MENDELIAN
Gene: COX8A
Disease: Isolated cytochrome C oxidase deficiency; Isolated COX deficiency; Isolated mitochondrial respiratory chain complex IV deficiency (ORPHA:254905)
Association type: UNKNOWN
Gene: COX20
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11 (OMIM:619054)
Association type: MENDELIAN
Gene: COX20
Disease: Isolated cytochrome C oxidase deficiency; Isolated COX deficiency; Isolated mitochondrial respiratory chain complex IV deficiency (ORPHA:254905)
Association type: UNKNOWN
Gene: PET100
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12 (OMIM:619055)
Association type: MENDELIAN
Gene: PTCD3
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51 (OMIM:619057)
Association type: MENDELIAN
Gene: CHRNA3
Disease: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT (OMIM:191800)
Association type: MENDELIAN
Gene: CHRNA3
Disease: SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 (OMIM:612052)
Association type: POLYGENIC
Gene: TRIM32
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 8 (OMIM:254110)
Association type: MENDELIAN
Gene: TRIM32
Disease: BARDET-BIEDL SYNDROME 11 (OMIM:615988)
Association type: MENDELIAN
Gene: TRIM32
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TRIM32
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: TRIM32
Disease: TRIM32-related limb-girdle muscular dystrophy R8; Autosomal recessive limb-girdle muscular dystrophy type 2H; LGMD due to TRIM32 deficiency; LGMD type 2H; LGMD2H; Limb-girdle muscular dystrophy due to TRIM32 deficiency; Limb-girdle muscular dystrophy type 2H; Sarcotubular myopathy; TRIM32-related LGMD R8 (ORPHA:1878)
Association type: UNKNOWN
Gene: LAMA5
Disease: NEPHROTIC SYNDROME, TYPE 26 (OMIM:620049)
Association type: MENDELIAN
Gene: LAMA5
Disease: BENT BONE DYSPLASIA SYNDROME 2 (OMIM:620076)
Association type: MENDELIAN
Gene: LAMA5
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LAMA5
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LAMA5
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: LAMA5
Disease: LAMA5-related multisystemic syndrome (ORPHA:521450)
Association type: UNKNOWN
Gene: SLC20A2
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Association type: MENDELIAN
Gene: SLC20A2
Disease: Bilateral striopallidodentate calcinosis; BSPDC; Cerebrovascular ferrocalcinosis; Idiopathic basal ganglia calcification; PFBC; Primary familial brain calcification (ORPHA:1980)
Association type: UNKNOWN
Gene: PDCD6IP
Disease: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:620047)
Association type: MENDELIAN
Gene: PDCD6IP
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: ANO1
Disease: INTESTINAL DYSMOTILITY SYNDROME (OMIM:620045)
Association type: MENDELIAN
Gene: ANO1
Disease: MOYAMOYA DISEASE 7 (OMIM:620687)
Association type: MENDELIAN
Gene: DUT
Disease: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME (OMIM:620044)
Association type: MENDELIAN
Gene: ALG12
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Association type: MENDELIAN
Gene: ALG12
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ALG12
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ALG12
Disease: ALG12-CDG; CDG syndrome type Ig; CDG-Ig; CDG1G; Carbohydrate deficient glycoprotein syndrome type Ig; Congenital disorder of glycosylation type 1g; Congenital disorder of glycosylation type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Association type: UNKNOWN
Gene: COA8
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 (OMIM:619061)
Association type: MENDELIAN
Gene: COA8
Disease: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy (ORPHA:436271)
Association type: UNKNOWN
Gene: COX6A2
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18 (OMIM:619062)
Association type: MENDELIAN
Gene: COX6A2
Disease: Isolated cytochrome C oxidase deficiency; Isolated COX deficiency; Isolated mitochondrial respiratory chain complex IV deficiency (ORPHA:254905)
Association type: UNKNOWN
Gene: ABCB7
Disease: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA (OMIM:301310)
Association type: MENDELIAN
Gene: ABCB7
Disease: X-linked sideroblastic anemia and spinocerebellar ataxia; Pagon-Bird-Detter syndrome; X-linked sideroblastic anemia with ataxia; XLSA-A (ORPHA:2802)
Association type: UNKNOWN
Gene: PET117
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19 (OMIM:619063)
Association type: MENDELIAN
Gene: PET117
Disease: Isolated cytochrome C oxidase deficiency; Isolated COX deficiency; Isolated mitochondrial respiratory chain complex IV deficiency (ORPHA:254905)
Association type: UNKNOWN
Gene: COX5A
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 (OMIM:619064)
Association type: MENDELIAN
Gene: COX5A
Disease: Isolated cytochrome C oxidase deficiency; Isolated COX deficiency; Isolated mitochondrial respiratory chain complex IV deficiency (ORPHA:254905)
Association type: UNKNOWN
Gene: COX4I1
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16 (OMIM:619060)
Association type: MENDELIAN
Gene: COX4I1
Disease: Isolated cytochrome C oxidase deficiency; Isolated COX deficiency; Isolated mitochondrial respiratory chain complex IV deficiency (ORPHA:254905)
Association type: UNKNOWN
Gene: COXFA4
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21 (OMIM:619065)
Association type: MENDELIAN
Gene: BET1
Disease: MUSCULAR DYSTROPHY, CONGENITAL, WITH RAPID PROGRESSION (OMIM:254100)
Association type: MENDELIAN
Gene: ALG5
Disease: POLYCYSTIC KIDNEY DISEASE 7 (OMIM:620056)
Association type: MENDELIAN
Gene: ALG5
Disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Association type: UNKNOWN
Gene: TGM5
Disease: PEELING SKIN SYNDROME 2 (OMIM:609796)
Association type: MENDELIAN
Gene: TGM5
Disease: Acral peeling skin syndrome; Acral PSS; Localized PSS; PSS 2; Peeling skin syndrome 2 (ORPHA:263534)
Association type: UNKNOWN
Gene: TBP
Disease: SPINOCEREBELLAR ATAXIA 17 (OMIM:607136)
Association type: MENDELIAN
Gene: TBP
Disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Association type: POLYGENIC
Gene: TBP
Disease: Spinocerebellar ataxia type 17; HDL4; Huntington disease-like 4; SCA17 (ORPHA:98759)
Association type: UNKNOWN
Gene: GPC3
Disease: WILMS TUMOR 1 (OMIM:194070)
Association type: MENDELIAN
Gene: GPC3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GPC3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GPC3
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Association type: MENDELIAN
Gene: GPC3
Disease: Simpson-Golabi-Behmel syndrome; DGSX; Golabi-Rosen syndrome; SDYS; SGBS; SGBS1; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome type 1; X-linked dysplasia gigantism syndrome (ORPHA:373)
Association type: UNKNOWN
Gene: GPC3
Disease: Nephroblastoma; Renal embryonic tumor; Wilms tumor (ORPHA:654)
Association type: UNKNOWN
Gene: GPC4
Disease: WILMS TUMOR 1 (OMIM:194070)
Association type: MENDELIAN
Gene: GPC4
Disease: KEIPERT SYNDROME (OMIM:301026)
Association type: MENDELIAN
Gene: GPC4
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Association type: MENDELIAN
Gene: GPC4
Disease: Simpson-Golabi-Behmel syndrome; DGSX; Golabi-Rosen syndrome; SDYS; SGBS; SGBS1; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome type 1; X-linked dysplasia gigantism syndrome (ORPHA:373)
Association type: UNKNOWN
Gene: GPC4
Disease: Keipert syndrome; Nasodigitoacoustic syndrome (ORPHA:2662)
Association type: UNKNOWN
Gene: EXOC7
Disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY (OMIM:619072)
Association type: MENDELIAN
Gene: DPH2
Disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 (OMIM:620062)
Association type: MENDELIAN
Gene: DPH2
Disease: Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome; Developmental delay-short stature-dysmorphic features-sparse hair syndrome; Loucks-Innes syndrome (ORPHA:459061)
Association type: UNKNOWN
Gene: CYP3A4
Disease: VITAMIN D-DEPENDENT RICKETS, TYPE 3 (OMIM:619073)
Association type: MENDELIAN
Gene: LRRC32
Disease: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY (OMIM:619074)
Association type: MENDELIAN
Gene: ODC1
Disease: BACHMANN-BUPP SYNDROME (OMIM:619075)
Association type: MENDELIAN
Gene: ODC1
Disease: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome; Bachmann-Bupp syndrome; Ornithine decarboxylase deficiency (ORPHA:544488)
Association type: UNKNOWN
Gene: CNP
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 20 (OMIM:619071)
Association type: MENDELIAN
Gene: PC
Disease: PYRUVATE CARBOXYLASE DEFICIENCY (OMIM:266150)
Association type: MENDELIAN
Gene: PC
Disease: Pyruvate carboxylase deficiency, benign type; Pyruvate carboxylase deficiency type C (ORPHA:353320)
Association type: UNKNOWN
Gene: PC
Disease: Pyruvate carboxylase deficiency, severe neonatal type; Pyruvate carboxylase deficiency type B (ORPHA:353314)
Association type: UNKNOWN
Gene: PC
Disease: Pyruvate carboxylase deficiency, infantile type; Pyruvate carboxylase deficiency type A (ORPHA:353308)
Association type: UNKNOWN
Gene: EXOC8
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY (OMIM:619076)
Association type: MENDELIAN
Gene: CARD8
Disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30 (OMIM:619079)
Association type: MENDELIAN
Gene: SOX5
Disease: LAMB-SHAFFER SYNDROME (OMIM:616803)
Association type: MENDELIAN
Gene: SOX5
Disease: Developmental and speech delay due to SOX5 deficiency (ORPHA:313892)
Association type: UNKNOWN
Gene: SOX5
Disease: 12p12.1 microdeletion syndrome; Del(12)(p12.1); Monosomy 12p12.1 (ORPHA:313884)
Association type: UNKNOWN
Gene: SOX5
Disease: Large/giant congenital melanocytic nevus; LGCMN; Large/giant CMN syndrome; Large/giant congenital pigmented nevus (ORPHA:626)
Association type: UNKNOWN
Gene: UNC80
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2 (OMIM:616801)
Association type: MENDELIAN
Gene: UNC80
Disease:  (ORPHA:700333)
Association type: UNKNOWN
Gene: ADAMTS19
Disease: CARDIAC VALVULAR DYSPLASIA 2 (OMIM:620067)
Association type: MENDELIAN
Gene: ADGRL1
Disease: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS (OMIM:620065)
Association type: MENDELIAN
Gene: ADGRL1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: DOHH
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Association type: MENDELIAN
Gene: DOHH
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: OPA1
Disease: OPTIC ATROPHY 1 (OMIM:165500)
Association type: MENDELIAN
Gene: OPA1
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE) (OMIM:616896)
Association type: MENDELIAN
Gene: OPA1
Disease: BEHR SYNDROME (OMIM:210000)
Association type: MENDELIAN
Gene: OPA1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: OPA1
Disease: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY (OMIM:125250)
Association type: MENDELIAN
Gene: OPA1
Disease: GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (OMIM:606657)
Association type: POLYGENIC
Gene: OPA1
Disease: Autosomal dominant optic atrophy, classic form; Autosomal dominant optic atrophy, Kjer type; Kjer optic atrophy; Optic atrophy type 1 (ORPHA:98673)
Association type: UNKNOWN
Gene: OPA1
Disease: Behr syndrome (ORPHA:1239)
Association type: UNKNOWN
Gene: OPA1
Disease: Autosomal dominant optic atrophy plus syndrome; ADOA+; DOA+; Optic atrophy-deafness-polyneuropathy-myopathy syndrome; Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome (ORPHA:1215)
Association type: UNKNOWN
Gene: PIGY
Disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Association type: MENDELIAN
Gene: PIGY
Disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Association type: UNKNOWN
Gene: HEATR3
Disease: DIAMOND-BLACKFAN ANEMIA 21 (OMIM:620072)
Association type: MENDELIAN
Gene: HEATR3
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: SLC12A2
Disease: DELPIRE-MCNEILL SYNDROME (OMIM:619083)
Association type: MENDELIAN
Gene: SLC12A2
Disease: KILQUIST SYNDROME (OMIM:619080)
Association type: MENDELIAN
Gene: SLC12A2
Disease: DEAFNESS, AUTOSOMAL DOMINANT 78 (OMIM:619081)
Association type: MENDELIAN
Gene: SLC12A2
Disease: SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome; Delpire-McNeill syndrome (ORPHA:633024)
Association type: UNKNOWN
Gene: SLC12A2
Disease: SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome; Kilquist syndrome (ORPHA:633021)
Association type: UNKNOWN
Gene: HNRNPR
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES (OMIM:620073)
Association type: MENDELIAN
Gene: HNRNPR
Disease: Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome; HNRNPR-related neurodevelopmental disorder (ORPHA:662189)
Association type: UNKNOWN
Gene: DPH5
Disease: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES (OMIM:620070)
Association type: MENDELIAN
Gene: PSMC1
Disease: BIRK-AHARONI SYNDROME (OMIM:620071)
Association type: MENDELIAN
Gene: SCD5
Disease: DEAFNESS, AUTOSOMAL DOMINANT 79 (OMIM:619086)
Association type: MENDELIAN
Gene: ARL2
Disease: MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA 1 (OMIM:619082)
Association type: MENDELIAN
Gene: TLE6
Disease: PREIMPLANTATION EMBRYONIC LETHALITY 1 (OMIM:616814)
Association type: MENDELIAN
Gene: TLE6
Disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Association type: UNKNOWN
Gene: POPDC1
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25 (OMIM:616812)
Association type: MENDELIAN
Gene: POPDC1
Disease: BVES-related limb-girdle muscular dystrophy; Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome; BVES-related LGMD; LGMD R25 BVES-related; LGMD type 2X; LGMD2X; Limb-girdle muscular dystrophy 2X (ORPHA:476084)
Association type: UNKNOWN
Gene: TXN2
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29 (OMIM:616811)
Association type: MENDELIAN
Gene: TXN2
Disease: Combined oxidative phosphorylation defect type 29; COXPD29 (ORPHA:478029)
Association type: UNKNOWN
Gene: SPRY2
Disease: IgA NEPHROPATHY, SUSCEPTIBILITY TO, 3 (OMIM:616818)
Association type: POLYGENIC
Gene: PPP1R15B
Disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Association type: MENDELIAN
Gene: PPP1R15B
Disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Association type: UNKNOWN
Gene: GCLM
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO (OMIM:608446)
Association type: POLYGENIC
Gene: LTA
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO (OMIM:608446)
Association type: POLYGENIC
Gene: LTA
Disease: PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO (OMIM:607507)
Association type: POLYGENIC
Gene: LTA
Disease: LEPROSY, SUSCEPTIBILITY TO, 4 (OMIM:610988)
Association type: POLYGENIC
Gene: ESR1
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO (OMIM:608446)
Association type: POLYGENIC
Gene: ESR1
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Association type: POLYGENIC
Gene: ESR1
Disease: ESTROGEN RESISTANCE (OMIM:615363)
Association type: MENDELIAN
Gene: ESR1
Disease: BREAST CANCER (OMIM:114480)
Association type: MENDELIAN
Gene: ESR1
Disease: Estrogen resistance syndrome (ORPHA:785)
Association type: UNKNOWN
Gene: OLR1
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO (OMIM:608446)
Association type: POLYGENIC
Gene: TNFSF4
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO (OMIM:608446)
Association type: POLYGENIC
Gene: TNFSF4
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: TNFSF4
Disease: Narcolepsy type 1; Gélineau disease; Hypocretin/orexin deficiency syndrome; Narcolepsy-cataplexy (ORPHA:2073)
Association type: UNKNOWN
Gene: F7
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO (OMIM:608446)
Association type: POLYGENIC
Gene: F7
Disease: FACTOR VII DEFICIENCY (OMIM:227500)
Association type: MENDELIAN
Gene: F7
Disease: Congenital factor VII deficiency; Congenital proconvertin deficiency; Hypoproconvertinemia (ORPHA:327)
Association type: UNKNOWN
Gene: PSMA6
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO (OMIM:608446)
Association type: POLYGENIC
Gene: MIAT
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO (OMIM:608446)
Association type: POLYGENIC