TaoMedAI/RareMedData huggingface dataset:
Gene: MITF
Disease: TIETZ ALBINISM-DEAFNESS SYNDROME (OMIM:103500)
Association type: MENDELIAN
Gene: MITF
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 (OMIM:614456)
Association type: POLYGENIC
Gene: MITF
Disease: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (OMIM:617306)
Association type: MENDELIAN
Gene: MITF
Disease: WAARDENBURG SYNDROME, TYPE 2A (OMIM:193510)
Association type: MENDELIAN
Gene: MITF
Disease: Waardenburg-Shah syndrome; Shah-Waardenburg syndrome; WS4; Waardenburg syndrome type 4; Waardenburg-Hirschsprung syndrome (ORPHA:897)
Association type: UNKNOWN
Gene: MITF
Disease: Waardenburg syndrome type 2; WS2; Waardenburg syndrome type II (ORPHA:895)
Association type: UNKNOWN
Gene: MITF
Disease: MITF-related melanoma and renal cell carcinoma predisposition syndrome (ORPHA:293822)
Association type: UNKNOWN
Gene: MITF
Disease: Papillary renal cell carcinoma; Papillary renal cell adenocarcinoma (ORPHA:319298)
Association type: UNKNOWN
Gene: MITF
Disease: Tietz syndrome; Hypopigmentation-deafness syndrome; Hypopigmentation-hearing loss syndrome (ORPHA:42665)
Association type: UNKNOWN
Gene: MITF
Disease: Clear cell papillary renal cell carcinoma (ORPHA:404511)
Association type: UNKNOWN
Gene: MITF
Disease: Familial melanoma (ORPHA:618)
Association type: UNKNOWN
Gene: RNF168
Disease: RIDDLE SYNDROME (OMIM:611943)
Association type: MENDELIAN
Gene: RNF168
Disease: RIDDLE syndrome; RNF168 deficiency; Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome (ORPHA:420741)
Association type: UNKNOWN
Gene: CACNA1H
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 (OMIM:611942)
Association type: POLYGENIC
Gene: CACNA1H
Disease: HYPERALDOSTERONISM, FAMILIAL, TYPE IV (OMIM:617027)
Association type: MENDELIAN
Gene: CACNA1H
Disease: Familial hyperaldosteronism type IV; FH4 (ORPHA:642671)
Association type: UNKNOWN
Gene: CACNA1H
Disease: Childhood absence epilepsy; Pyknolepsy (ORPHA:64280)
Association type: UNKNOWN
Gene: RD3
Disease: LEBER CONGENITAL AMAUROSIS 12 (OMIM:610612)
Association type: MENDELIAN
Gene: RD3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RD3
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: F12
Disease: ANGIOEDEMA, HEREDITARY, TYPE III (OMIM:610618)
Association type: MENDELIAN
Gene: F12
Disease: FACTOR XII DEFICIENCY (OMIM:234000)
Association type: MENDELIAN
Gene: F12
Disease: Congenital factor XII deficiency; Congenital Hageman factor deficiency (ORPHA:330)
Association type: UNKNOWN
Gene: F12
Disease: F12-associated cold autoinflammatory syndrome; FACAS (ORPHA:617919)
Association type: UNKNOWN
Gene: F12
Disease: F12-related hereditary angioedema with normal C1Inh; F12-related HAE with normal C1 inhibitor; HAE 3; HAE-III; Hereditary angioedema type 3; Hereditary angioneurotic edema type 3; Inherited estrogen-associated angioedema; Inherited estrogen-associated angioneurotic edema; Inherited estrogen-dependent angioedema; Inherited estrogen-dependent angioneurotic edema (ORPHA:100054)
Association type: UNKNOWN
Gene: CST3
Disease: MACULAR DEGENERATION, AGE-RELATED, 11 (OMIM:611953)
Association type: POLYGENIC
Gene: CST3
Disease:  (OMIM:621214)
Association type: MENDELIAN
Gene: CST3
Disease: CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED (OMIM:105150)
Association type: MENDELIAN
Gene: CST3
Disease: ACys amyloidosis; CST3-related amyloidosis; Cystatin amyloidosis; HCHWA, Icelandic type; Hereditary cerebral hemorrhage with amyloidosis, Icelandic type; Hereditary cystatin C amyloid angiopathy (ORPHA:100008)
Association type: UNKNOWN
Gene: PITX3
Disease: CATARACT 11, MULTIPLE TYPES (OMIM:610623)
Association type: MENDELIAN
Gene: PITX3
Disease: ANTERIOR SEGMENT DYSGENESIS 1 (OMIM:107250)
Association type: MENDELIAN
Gene: PITX3
Disease: Congenital cataract-anterior segment dysgenesis syndrome; Congenital cataract-ASD syndrome; Congenital cataract-ASGD syndrome; Congenital cataract-ASMD syndrome; Congenital cataract-anterior segment mesenchymal dysgenesis syndrome (ORPHA:162)
Association type: UNKNOWN
Gene: PITX3
Disease: Early-onset posterior polar cataract (ORPHA:98993)
Association type: UNKNOWN
Gene: RPS24
Disease: DIAMOND-BLACKFAN ANEMIA 3 (OMIM:610629)
Association type: MENDELIAN
Gene: RPS24
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: PAH
Disease: PHENYLKETONURIA (OMIM:261600)
Association type: MENDELIAN
Gene: PAH
Disease: Mild hyperphenylalaninemia; Mild HPA; Non-PKU HPA; mHPA (ORPHA:79651)
Association type: UNKNOWN
Gene: PAH
Disease: Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria; BH4-responsive HPA/PKU; BH4-responsive hyperphenylalaninemia/phenylketonuria; Tetrahydrobiopterin-responsive HPA/PKU (ORPHA:293284)
Association type: UNKNOWN
Gene: PAH
Disease: Mild phenylketonuria; Mild PKU; Variant PKU; Variant phenylketonuria; mPKU (ORPHA:79253)
Association type: UNKNOWN
Gene: PAH
Disease: Classic phenylketonuria; Classic PKU (ORPHA:79254)
Association type: UNKNOWN
Gene: PAH
Disease: Maternal phenylketonuria; Hyperphenylalaninemic embryopathy; Maternal PKU; Maternal hyperphenylalaninemia; Phenylketonuric embryopathy (ORPHA:2209)
Association type: UNKNOWN
Gene: CHI3L1
Disease: ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7 (OMIM:611960)
Association type: POLYGENIC
Gene: CHI3L1
Disease: SCHIZOPHRENIA (OMIM:181500)
Association type: POLYGENIC
Gene: DMPK
Disease: MYOTONIC DYSTROPHY 1 (OMIM:160900)
Association type: MENDELIAN
Gene: DMPK
Disease: Late-onset Steinert myotonic dystrophy; Late-onset Steinert disease; Late-onset myotonic dystrophy type 1 (ORPHA:589833)
Association type: UNKNOWN
Gene: DMPK
Disease: Adult-onset Steinert myotonic dystrophy; Adult-onset Steinert disease; Adult-onset myotonic dystrophy type 1 (ORPHA:589830)
Association type: UNKNOWN
Gene: DMPK
Disease: Juvenile-onset Steinert myotonic dystrophy; Juvenile-onset Steinert disease; Juvenile-onset myotonic dystrophy type 1 (ORPHA:589827)
Association type: UNKNOWN
Gene: DMPK
Disease: Congenital-onset Steinert myotonic dystrophy; Congenital-onset Steinert disease; Congenital-onset myotonic dystrophy type 1 (ORPHA:589821)
Association type: UNKNOWN
Gene: DMPK
Disease: Childhood-onset Steinert myotonic dystrophy; Childhood-onset Steinert disease; Childhood-onset myotonic dystrophy type 1 (ORPHA:589824)
Association type: UNKNOWN
Gene: POMT2
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Association type: MENDELIAN
Gene: POMT2
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 (OMIM:613150)
Association type: MENDELIAN
Gene: POMT2
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 2 (OMIM:613156)
Association type: MENDELIAN
Gene: POMT2
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 (OMIM:613158)
Association type: MENDELIAN
Gene: POMT2
Disease: Congenital muscular dystrophy with intellectual disability; CMD with intellectual disability; CMD-MR (ORPHA:370968)
Association type: UNKNOWN
Gene: POMT2
Disease: Congenital muscular dystrophy with cerebellar involvement; CMD with cerebellar involvement; CMD-CRB (ORPHA:370959)
Association type: UNKNOWN
Gene: POMT2
Disease: Walker-Warburg syndrome; HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; WWS (ORPHA:899)
Association type: UNKNOWN
Gene: POMT2
Disease: POMT2-related limb-girdle muscular dystrophy R14; Autosomal recessive limb-girdle muscular dystrophy type 2N; LGMD type 2N; LGMD2N; Limb-girdle muscular dystrophy type 2N; POMT2-related LGMD R14 (ORPHA:206559)
Association type: UNKNOWN
Gene: POMT2
Disease: Muscle-eye-brain disease; MEB syndrome; Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy (ORPHA:588)
Association type: UNKNOWN
Gene: LARGE1
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1 (OMIM:236670)
Association type: MENDELIAN
Gene: LARGE1
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 6 (OMIM:608840)
Association type: MENDELIAN
Gene: LARGE1
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6 (OMIM:613154)
Association type: MENDELIAN
Gene: LARGE1
Disease: Congenital muscular dystrophy with intellectual disability; CMD with intellectual disability; CMD-MR (ORPHA:370968)
Association type: UNKNOWN
Gene: LARGE1
Disease: Walker-Warburg syndrome; HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; WWS (ORPHA:899)
Association type: UNKNOWN
Gene: LARGE1
Disease: Muscle-eye-brain disease; MEB syndrome; Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy (ORPHA:588)
Association type: UNKNOWN
Gene: ASAH1
Disease: SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY (OMIM:159950)
Association type: MENDELIAN
Gene: ASAH1
Disease: FARBER LIPOGRANULOMATOSIS (OMIM:228000)
Association type: MENDELIAN
Gene: ASAH1
Disease: Farber disease; Acid ceramidase deficiency; Farber lipogranulomatosis (ORPHA:333)
Association type: UNKNOWN
Gene: ASAH1
Disease: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome; Hereditary myoclonus-progressive distal muscular atrophy syndrome; Jankovic-Rivera syndrome; SMA-PME (ORPHA:2590)
Association type: UNKNOWN
Gene: SLC6A2
Disease: ORTHOSTATIC INTOLERANCE (OMIM:604715)
Association type: MENDELIAN
Gene: SLC6A2
Disease: Postural orthostatic tachycardia syndrome due to NET deficiency; Familial orthostatic tachycardia due to norepinephrine transporter deficiency; Orthostatic intolerance due to NET deficiency; POTS due to NET deficiency (ORPHA:443236)
Association type: UNKNOWN
Gene: ORC1
Disease: MEIER-GORLIN SYNDROME 1 (OMIM:224690)
Association type: MENDELIAN
Gene: ORC1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ORC1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ORC1
Disease: Ear-patella-short stature syndrome; Meier-Gorlin syndrome (ORPHA:2554)
Association type: UNKNOWN
Gene: DBH
Disease: ORTHOSTATIC HYPOTENSION 1 (OMIM:223360)
Association type: MENDELIAN
Gene: DBH
Disease: Dopamine beta-hydroxylase deficiency; DBH deficiency (ORPHA:230)
Association type: UNKNOWN
Gene: SRGAP1
Disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Association type: POLYGENIC
Gene: MINPP1
Disease: THYROID CANCER, NONMEDULLARY, 2 (OMIM:188470)
Association type: POLYGENIC
Gene: MINPP1
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 16 (OMIM:619527)
Association type: MENDELIAN
Gene: MINPP1
Disease: Familial papillary or follicular thyroid carcinoma; FNMTC; Familial pure nonmedullary thyroid carcinoma (ORPHA:319487)
Association type: UNKNOWN
Gene: MINPP1
Disease: Pontocerebellar hypoplasia type 7; PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome (ORPHA:284339)
Association type: UNKNOWN
Gene: ACTG1
Disease: DEAFNESS, AUTOSOMAL DOMINANT 20 (OMIM:604717)
Association type: MENDELIAN
Gene: ACTG1
Disease: BARAITSER-WINTER SYNDROME 2 (OMIM:614583)
Association type: MENDELIAN
Gene: ACTG1
Disease: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA; Autosomal dominant isolated neurosensory deafness type DFNA; Autosomal dominant isolated neurosensory hearing loss type DFNA; Autosomal dominant isolated sensorineural deafness type DFNA; Autosomal dominant isolated sensorineural hearing loss type DFNA; Autosomal dominant non-syndromic neurosensory deafness type DFNA; Autosomal dominant non-syndromic neurosensory hearing loss type DFNA; Autosomal dominant non-syndromic sensorineural hearing loss type DFNA (ORPHA:90635)
Association type: UNKNOWN
Gene: ACTG1
Disease: Coloboma of iris (ORPHA:98944)
Association type: UNKNOWN
Gene: ACTG1
Disease: Coloboma of choroid and retina (ORPHA:98942)
Association type: UNKNOWN
Gene: ACTG1
Disease: Baraitser-Winter cerebrofrontofacial syndrome (ORPHA:2995)
Association type: UNKNOWN
Gene: RSPO1
Disease: PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
Association type: MENDELIAN
Gene: RSPO1
Disease: Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome; Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome (ORPHA:85112)
Association type: UNKNOWN
Gene: AUH
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Association type: MENDELIAN
Gene: AUH
Disease: 3-methylglutaconic aciduria type 1; 3-methylglutaconyl-CoA hydratase deficiency; 3MG-CoA hydratase deficiency; MGA1 (ORPHA:67046)
Association type: UNKNOWN
Gene: CDH11
Disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Association type: MENDELIAN
Gene: CDH11
Disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Association type: MENDELIAN
Gene: CDH11
Disease: Branchioskeletogenital syndrome; BSG syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Association type: UNKNOWN
Gene: SUOX
Disease: SULFITE OXIDASE DEFICIENCY, ISOLATED (OMIM:272300)
Association type: MENDELIAN
Gene: SUOX
Disease: Isolated sulfite oxidase deficiency; ISOD; Sulfocysteinuria (ORPHA:99731)
Association type: UNKNOWN
Gene: RNU2-2
Disease:  (OMIM:621304)
Association type: MENDELIAN
Gene: RNU5B-1
Disease:  (OMIM:621302)
Association type: MENDELIAN
Gene: MTR
Disease: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE (OMIM:250940)
Association type: MENDELIAN
Gene: MTR
Disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Association type: POLYGENIC
Gene: MTR
Disease: Methylcobalamin deficiency type cblG; Functional methionine synthase deficiency type cblG (ORPHA:2170)
Association type: UNKNOWN
Gene: CPLANE1
Disease: OROFACIODIGITAL SYNDROME VI (OMIM:277170)
Association type: MENDELIAN
Gene: CPLANE1
Disease: JOUBERT SYNDROME 17 (OMIM:614615)
Association type: MENDELIAN
Gene: CPLANE1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CPLANE1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CPLANE1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CPLANE1
Disease: Monomelic amyotrophy; Benign focal amyotrophy; Hirayama disease; JMADUE; Juvenile muscular atrophy of distal upper extremity; Juvenile muscular atrophy of the distal upper limb (ORPHA:65684)
Association type: UNKNOWN
Gene: CPLANE1
Disease: Orofaciodigital syndrome type 6; Joubert syndrome with oral-facial-digital syndrome; Joubert syndrome with orofaciodigital defect; OFD6; Oral-facial-digital syndrome type 6; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi syndrome; Váradi-Papp syndrome (ORPHA:2754)
Association type: UNKNOWN
Gene: CPLANE1
Disease: Joubert syndrome; CPD IV; Cerebelloparenchymal disorder IV; Classic Joubert syndrome; Joubert syndrome type A; Joubert-Boltshauser syndrome; Pure Joubert syndrome (ORPHA:475)
Association type: UNKNOWN
Gene: DUOXA2
Disease: THYROID DYSHORMONOGENESIS 5 (OMIM:274900)
Association type: MENDELIAN
Gene: DUOXA2
Disease: Familial thyroid dyshormonogenesis; Thyroid dyshormonogenesis (ORPHA:95716)
Association type: UNKNOWN
Gene: MPLKIP
Disease: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE (OMIM:234050)
Association type: MENDELIAN
Gene: MPLKIP
Disease: Trichothiodystrophy (ORPHA:33364)
Association type: UNKNOWN
Gene: NDUFB10
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35 (OMIM:619003)
Association type: MENDELIAN
Gene: NDUFB10
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: MADD
Disease: DEEAH SYNDROME (OMIM:619004)
Association type: MENDELIAN
Gene: MADD
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA (OMIM:619005)
Association type: MENDELIAN
Gene: MADD
Disease: MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome (ORPHA:686495)
Association type: UNKNOWN
Gene: MADD
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: SETD1B
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY (OMIM:619000)
Association type: MENDELIAN
Gene: SETD1B
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: PCK2
Disease: PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY, MITOCHONDRIAL (OMIM:261650)
Association type: MENDELIAN
Gene: PCK2
Disease: Phosphoenolpyruvate carboxykinase deficiency; PEPCK deficiency (ORPHA:2880)
Association type: UNKNOWN
Gene: IDH3A
Disease: RETINITIS PIGMENTOSA 90 (OMIM:619007)
Association type: MENDELIAN
Gene: IDH3A
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: IDH3A
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: BTG4
Disease: OOCYTE MATURATION DEFECT 8 (OMIM:619009)
Association type: MENDELIAN
Gene: RSPO4
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 (OMIM:206800)
Association type: MENDELIAN
Gene: RSPO4
Disease: Anonychia congenita totalis (ORPHA:94150)
Association type: UNKNOWN
Gene: TUFM
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 (OMIM:610678)
Association type: MENDELIAN
Gene: TUFM
Disease: Combined oxidative phosphorylation defect type 4; COXPD4 (ORPHA:254925)
Association type: UNKNOWN
Gene: PTS
Disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A (OMIM:261640)
Association type: MENDELIAN
Gene: PTS
Disease: 6-pyruvoyl-tetrahydropterin synthase deficiency; Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency (ORPHA:13)
Association type: UNKNOWN
Gene: NSUN3
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48 (OMIM:619012)
Association type: MENDELIAN
Gene: FARSA
Disease: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2 (OMIM:619013)
Association type: MENDELIAN
Gene: VPS33B
Disease: KERATODERMA-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE (OMIM:620009)
Association type: MENDELIAN
Gene: VPS33B
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 12 (OMIM:620010)
Association type: MENDELIAN
Gene: VPS33B
Disease: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1 (OMIM:208085)
Association type: MENDELIAN
Gene: VPS33B
Disease: Arthrogryposis-renal dysfunction-cholestasis syndrome; ARC syndrome (ORPHA:2697)
Association type: UNKNOWN
Gene: CRTAP
Disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Association type: MENDELIAN
Gene: CRTAP
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: CRTAP
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CRTAP
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CRTAP
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: CRTAP
Disease: Cole-Carpenter syndrome; Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome (ORPHA:2050)
Association type: UNKNOWN
Gene: CRTAP
Disease: Osteogenesis imperfecta type 3; OI type 3; Progressive deforming osteogenesis imperfecta; Severe osteogenesis imperfecta (ORPHA:216812)
Association type: UNKNOWN
Gene: CRTAP
Disease: Osteogenesis imperfecta type 2; Lethal osteogenesis imperfecta; OI type 2 (ORPHA:216804)
Association type: UNKNOWN
Gene: CRTAP
Disease: Osteogenesis imperfecta type 4; OI type 4 (ORPHA:216820)
Association type: UNKNOWN
Gene: LGI3
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS (OMIM:620007)
Association type: MENDELIAN
Gene: PRIM1
Disease: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME (OMIM:620005)
Association type: MENDELIAN
Gene: CFL2
Disease: NEMALINE MYOPATHY 7 (OMIM:610687)
Association type: MENDELIAN
Gene: CFL2
Disease: Typical nemaline myopathy (ORPHA:171436)
Association type: UNKNOWN
Gene: MNX1
Disease: CURRARINO SYNDROME (OMIM:176450)
Association type: MENDELIAN
Gene: MNX1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MNX1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MNX1
Disease: Currarino syndrome; Currarino triad (ORPHA:1552)
Association type: UNKNOWN
Gene: NSRP1
Disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620001)
Association type: MENDELIAN
Gene: HYLS1
Disease: HYDROLETHALUS SYNDROME 1 (OMIM:236680)
Association type: MENDELIAN
Gene: HYLS1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HYLS1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HYLS1
Disease: Joubert syndrome; CPD IV; Cerebelloparenchymal disorder IV; Classic Joubert syndrome; Joubert syndrome type A; Joubert-Boltshauser syndrome; Pure Joubert syndrome (ORPHA:475)
Association type: UNKNOWN
Gene: HYLS1
Disease: Hydrolethalus (ORPHA:2189)
Association type: UNKNOWN
Gene: UGT1A1
Disease: CRIGLER-NAJJAR SYNDROME, TYPE I (OMIM:218800)
Association type: MENDELIAN
Gene: UGT1A1
Disease: HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL (OMIM:237900)
Association type: MENDELIAN
Gene: UGT1A1
Disease: CRIGLER-NAJJAR SYNDROME, TYPE II (OMIM:606785)
Association type: MENDELIAN
Gene: UGT1A1
Disease: BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 (OMIM:601816)
Association type: MENDELIAN
Gene: UGT1A1
Disease: GILBERT SYNDROME (OMIM:143500)
Association type: MENDELIAN
Gene: UGT1A1
Disease: Transient familial neonatal hyperbilirubinemia; Lucey-Driscoll syndrome (ORPHA:2312)
Association type: UNKNOWN
Gene: UGT1A1
Disease: Crigler-Najjar syndrome type 1; Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1; Bilirubin-UGT deficiency type 1 (ORPHA:79234)
Association type: UNKNOWN
Gene: UGT1A1
Disease: Crigler-Najjar syndrome type 2; Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2; Bilirubin-UGT deficiency type 2 (ORPHA:79235)
Association type: UNKNOWN
Gene: MRPS25
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50 (OMIM:619025)
Association type: MENDELIAN
Gene: HPDL
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES (OMIM:619026)
Association type: MENDELIAN
Gene: HPDL
Disease: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE (OMIM:619027)
Association type: MENDELIAN
Gene: HPDL
Disease: Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome; HPDL-related Leigh-like encephalopathy; HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome (ORPHA:641353)
Association type: UNKNOWN
Gene: HPDL
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: HPDL
Disease: Autosomal recessive spastic paraplegia type 83 (ORPHA:631076)
Association type: UNKNOWN
Gene: QDPR
Disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C (OMIM:261630)
Association type: MENDELIAN
Gene: QDPR
Disease: Dihydropteridine reductase deficiency; Hyperphenylalaninemia due to dihydropteridine reductase deficiency; PKU type 2; Phenylketonuria type 2 (ORPHA:226)
Association type: UNKNOWN
Gene: COQ5
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 9 (OMIM:619028)
Association type: MENDELIAN
Gene: FBXO7
Disease: PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:260300)
Association type: MENDELIAN
Gene: FBXO7
Disease: Parkinsonian-pyramidal syndrome; Pallidopyramidal syndrome (ORPHA:171695)
Association type: UNKNOWN
Gene: MIEF2
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Association type: MENDELIAN
Gene: SGCE
Disease: DYSTONIA 11, MYOCLONIC (OMIM:159900)
Association type: MENDELIAN
Gene: SGCE
Disease: Myoclonus-dystonia syndrome; Alcohol-responsive dystonia; Hereditary essential myoclonus; Myoclonic dystonia (ORPHA:36899)
Association type: UNKNOWN
Gene: TIMELESS
Disease: ADVANCE SLEEP PHASE SYNDROME, FAMILIAL, 4 (OMIM:620015)
Association type: MENDELIAN