TaoMedAI/RareMedData huggingface dataset:
Gene: TJP2
Disease: Familial hypercholanemia; Hereditary hypercholanemia (ORPHA:238475)
Association type: UNKNOWN
Gene: TJP2
Disease: Progressive familial intrahepatic cholestasis type 4; PFIC4; TJP2 deficit (ORPHA:480483)
Association type: UNKNOWN
Gene: DNMT3A
Disease: TATTON-BROWN-RAHMAN SYNDROME (OMIM:615879)
Association type: MENDELIAN
Gene: DNMT3A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DNMT3A
Disease: HEYN-SPROUL-JACKSON SYNDROME (OMIM:618724)
Association type: MENDELIAN
Gene: DNMT3A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DNMT3A
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: MENDELIAN
Gene: DNMT3A
Disease: DNMT3A-related microcephalic dwarfism; HESJAS; Heyn-Sproul-Jackson syndrome; Microcephaly-short stature-intellectual disability syndrome (ORPHA:658595)
Association type: UNKNOWN
Gene: DNMT3A
Disease: Acute myeloid leukaemia with myelodysplasia-related features; AML with multilineage dysplasia; AML with myelodysplasia-related features; Acute myeloid leukemia with multilineage dysplasia (ORPHA:86845)
Association type: UNKNOWN
Gene: DNMT3A
Disease: Tatton-Brown-Rahman syndrome; DNMT3A-related overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome (ORPHA:404443)
Association type: UNKNOWN
Gene: DNMT3A
Disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Association type: UNKNOWN
Gene: MAB21L2
Disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME (OMIM:615877)
Association type: MENDELIAN
Gene: MAB21L2
Disease: Colobomatous microphthalmia-rhizomelic dysplasia syndrome; Microphthalmia-coloboma-rhizomelic skeletal dysplasia (ORPHA:424099)
Association type: UNKNOWN
Gene: CYP2B6
Disease: EFAVIRENZ, POOR METABOLISM OF (OMIM:614546)
Association type: MENDELIAN
Gene: ALG9
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il (OMIM:608776)
Association type: MENDELIAN
Gene: ALG9
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ALG9
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ALG9
Disease: GILLESSEN-KAESBACH-NISHIMURA SYNDROME (OMIM:263210)
Association type: MENDELIAN
Gene: ALG9
Disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Association type: UNKNOWN
Gene: ALG9
Disease: ALG9-CDG; CDG syndrome type IL; CDG-IL; CDG1L; Carbohydrate deficient glycoprotein syndrome type IL; Congenital disorder of glycosylation type 1L; Mannosyltransferase 7-9 deficiency (ORPHA:79328)
Association type: UNKNOWN
Gene: ATXN8OS
Disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Association type: MENDELIAN
Gene: ATXN8OS
Disease: PARKINSON DISEASE, LATE-ONSET (OMIM:168600)
Association type: POLYGENIC
Gene: ATXN8OS
Disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Association type: UNKNOWN
Gene: ATXN8
Disease: SPINOCEREBELLAR ATAXIA 8 (OMIM:608768)
Association type: MENDELIAN
Gene: ATXN8
Disease: Spinocerebellar ataxia type 8; SCA8 (ORPHA:98760)
Association type: UNKNOWN
Gene: ATN1
Disease: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY (OMIM:125370)
Association type: MENDELIAN
Gene: ATN1
Disease: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES (OMIM:618494)
Association type: MENDELIAN
Gene: ATN1
Disease: Dentatorubral pallidoluysian atrophy; DRPLA; Dentatorubropallidoluysian atrophy; Naito-Oyanagi disease (ORPHA:101)
Association type: UNKNOWN
Gene: TYRP1
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III (OMIM:203290)
Association type: MENDELIAN
Gene: TYRP1
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11 (OMIM:612271)
Association type: MENDELIAN
Gene: TYRP1
Disease: Oculocutaneous albinism type 3; OCA3; Red oculocutaneous albinism; Rufous oculocutaneous albinism; Xanthous oculocutaneous albinism (ORPHA:79433)
Association type: UNKNOWN
Gene: ANGPTL4
Disease: PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS (OMIM:615881)
Association type: MENDELIAN
Gene: PDHA1
Disease: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY (OMIM:312170)
Association type: MENDELIAN
Gene: PDHA1
Disease: Pyruvate dehydrogenase E1-alpha deficiency; PDHAD; Pyruvate decarboxylase deficiency; Pyruvate dehydrogenase complex E1 component subunit alpha deficiency (ORPHA:79243)
Association type: UNKNOWN
Gene: RPL21
Disease: HYPOTRICHOSIS 12 (OMIM:615885)
Association type: MENDELIAN
Gene: RPL21
Disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Association type: UNKNOWN
Gene: DDX59
Disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Association type: MENDELIAN
Gene: DDX59
Disease: Orofaciodigital syndrome type 5; OFD5; Oral-facial-digital syndrome type 5; Orofaciodigital syndrome, Thurston type; Polydactyly postaxial with median cleft of upper lip; Thurston syndrome (ORPHA:2919)
Association type: UNKNOWN
Gene: TLR1
Disease: LEPROSY, SUSCEPTIBILITY TO, 5 (OMIM:613223)
Association type: POLYGENIC
Gene: SLC24A4
Disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA5 (OMIM:615887)
Association type: MENDELIAN
Gene: SLC24A4
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6 (OMIM:210750)
Association type: MENDELIAN
Gene: SLC24A4
Disease: Hypocalcified amelogenesis imperfecta; Amelogenesis imperfecta type 3 (ORPHA:100032)
Association type: UNKNOWN
Gene: SLC24A4
Disease: Hypomaturation amelogenesis imperfecta; Amelogenesis imperfecta type 2 (ORPHA:100033)
Association type: UNKNOWN
Gene: RASGRP2
Disease: BLEEDING DISORDER, PLATELET-TYPE, 18 (OMIM:615888)
Association type: MENDELIAN
Gene: RASGRP2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RASGRP2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RASGRP2
Disease: Bleeding disorder due to CalDAG-GEFI deficiency; Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency (ORPHA:420566)
Association type: UNKNOWN
Gene: CA8
Disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3 (OMIM:613227)
Association type: MENDELIAN
Gene: CA8
Disease: Dysequilibrium syndrome; CAMRQ syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; Non-progressive cerebellar ataxia-intellectual disability syndrome; UTS; Uner Tan syndrome (ORPHA:1766)
Association type: UNKNOWN
Gene: PAFAH1B1
Disease: LISSENCEPHALY 1 (OMIM:607432)
Association type: MENDELIAN
Gene: PAFAH1B1
Disease: 17p13.3 microduplication syndrome; 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3 (ORPHA:217385)
Association type: UNKNOWN
Gene: PAFAH1B1
Disease: Miller-Dieker syndrome; Lissencephaly due to 17p13.3 deletion; Monosomy 17p13.3; Telomeric deletion 17p (ORPHA:531)
Association type: UNKNOWN
Gene: PAFAH1B1
Disease: Lissencephaly due to LIS1 mutation; PAFAH1B1-related lissencephaly (ORPHA:95232)
Association type: UNKNOWN
Gene: PAFAH1B1
Disease: Subcortical band heterotopia; Subcortical laminar heterotopia (ORPHA:99796)
Association type: UNKNOWN
Gene: SLITRK1
Disease: TRICHOTILLOMANIA (OMIM:613229)
Association type: MENDELIAN
Gene: SLITRK1
Disease: GILLES DE LA TOURETTE SYNDROME (OMIM:137580)
Association type: MENDELIAN
Gene: SNORD118
Disease: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS (OMIM:614561)
Association type: MENDELIAN
Gene: SNORD118
Disease: Leukoencephalopathy with calcifications and cysts; LCC; Labrune syndrome (ORPHA:542310)
Association type: UNKNOWN
Gene: KRT71
Disease: HYPOTRICHOSIS 13 (OMIM:615896)
Association type: MENDELIAN
Gene: KRT71
Disease: Woolly hair; Familial woolly hair syndrome; Familial wooly hair syndrome; Hereditary woolly hair syndrome; Hereditary wooly hair syndrome; Wooly hair (ORPHA:170)
Association type: UNKNOWN
Gene: CTPS1
Disease: IMMUNODEFICIENCY 24 (OMIM:615897)
Association type: MENDELIAN
Gene: CTPS1
Disease: Severe combined immunodeficiency due to CTPS1 deficiency; SCID due to CTPS1 deficiency (ORPHA:420573)
Association type: UNKNOWN
Gene: F13B
Disease: FACTOR XIII, B SUBUNIT, DEFICIENCY OF (OMIM:613235)
Association type: MENDELIAN
Gene: F13B
Disease: Congenital factor XIII deficiency; Fibrin-stabilizing factor deficiency (ORPHA:331)
Association type: UNKNOWN
Gene: RBCK1
Disease: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY (OMIM:615895)
Association type: MENDELIAN
Gene: RBCK1
Disease: Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (ORPHA:329173)
Association type: UNKNOWN
Gene: RBCK1
Disease: Polyglucosan body myopathy type 1; PGBM1 (ORPHA:397937)
Association type: UNKNOWN
Gene: ATR
Disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
Association type: MENDELIAN
Gene: ATR
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ATR
Disease: SECKEL SYNDROME 1 (OMIM:210600)
Association type: MENDELIAN
Gene: ATR
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ATR
Disease: Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (ORPHA:313846)
Association type: UNKNOWN
Gene: ATR
Disease: Seckel syndrome (ORPHA:808)
Association type: UNKNOWN
Gene: INF2
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 (OMIM:613237)
Association type: MENDELIAN
Gene: INF2
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E (OMIM:614455)
Association type: MENDELIAN
Gene: INF2
Disease: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E; CMTDIE; Charcot-Marie-Tooth disease-nephropathy syndrome (ORPHA:93114)
Association type: UNKNOWN
Gene: INF2
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: KCNJ18
Disease: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2 (OMIM:613239)
Association type: POLYGENIC
Gene: KCNJ18
Disease: Thyrotoxic periodic paralysis; Thyrotoxic hypokalemic periodic paralysis (ORPHA:79102)
Association type: UNKNOWN
Gene: MYL3
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 (OMIM:608751)
Association type: MENDELIAN
Gene: CRBN
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2 (OMIM:607417)
Association type: MENDELIAN
Gene: CRBN
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: IGF1
Disease: INSULIN-LIKE GROWTH FACTOR I DEFICIENCY (OMIM:608747)
Association type: MENDELIAN
Gene: IGF1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IGF1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IGF1
Disease: Growth delay due to insulin-like growth factor type 1 deficiency; Growth delay-deafness-intellectual disability syndrome; Growth delay-hearing loss-intellectual disability syndrome; IGF-1 deficiency; Primary insulin-like growth factor deficiency (ORPHA:73272)
Association type: UNKNOWN
Gene: PRICKLE3
Disease: LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF (OMIM:308905)
Association type: POLYGENIC
Gene: RFC1
Disease: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME (OMIM:614575)
Association type: MENDELIAN
Gene: RFC1
Disease: Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome; CABV syndrome; CANVAS; Cerebellar ataxia with bilateral vestibulopathy syndrome (ORPHA:504476)
Association type: UNKNOWN
Gene: MRPL3
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9 (OMIM:614582)
Association type: MENDELIAN
Gene: MRPL3
Disease: Combined oxidative phosphorylation defect type 9; COXPD9 (ORPHA:319509)
Association type: UNKNOWN
Gene: PLCD1
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3 (OMIM:151600)
Association type: MENDELIAN
Gene: PLCD1
Disease: Leukonychia totalis (ORPHA:2387)
Association type: UNKNOWN
Gene: CORIN
Disease: PREECLAMPSIA/ECLAMPSIA 5 (OMIM:614595)
Association type: MENDELIAN
Gene: CORIN
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 30, ATRIAL (OMIM:620734)
Association type: MENDELIAN
Gene: CORIN
Disease: Preeclampsia (ORPHA:275555)
Association type: UNKNOWN
Gene: EDN3
Disease: WAARDENBURG SYNDROME, TYPE 4B (OMIM:613265)
Association type: MENDELIAN
Gene: EDN3
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 (OMIM:613712)
Association type: POLYGENIC
Gene: EDN3
Disease: Hirschsprung disease; Aganglionic megacolon; Colonic aganglionosis; Congenital intestinal aganglionosis; HSCR (ORPHA:388)
Association type: UNKNOWN
Gene: EDN3
Disease: Waardenburg-Shah syndrome; Shah-Waardenburg syndrome; WS4; Waardenburg syndrome type 4; Waardenburg-Hirschsprung syndrome (ORPHA:897)
Association type: UNKNOWN
Gene: EDN3
Disease: Congenital central hypoventilation syndrome; CCHS; Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome (ORPHA:661)
Association type: UNKNOWN
Gene: TCF4
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3 (OMIM:613267)
Association type: MENDELIAN
Gene: TCF4
Disease: PITT-HOPKINS SYNDROME (OMIM:610954)
Association type: MENDELIAN
Gene: TCF4
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: TCF4
Disease: Pitt-Hopkins syndrome (ORPHA:2896)
Association type: UNKNOWN
Gene: TCF4
Disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Association type: UNKNOWN
Gene: TCF4
Disease: Fuchs endothelial corneal dystrophy; Endoepithelial corneal dystrophy; FECD; Late hereditary endothelial dystrophy (ORPHA:98974)
Association type: UNKNOWN
Gene: ASPM
Disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Association type: MENDELIAN
Gene: ASPM
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: SMARCAD1
Disease: ADERMATOGLYPHIA (OMIM:136000)
Association type: MENDELIAN
Gene: SMARCAD1
Disease: HURIEZ SYNDROME (OMIM:181600)
Association type: MENDELIAN
Gene: SMARCAD1
Disease: BASAN SYNDROME (OMIM:129200)
Association type: MENDELIAN
Gene: SMARCAD1
Disease: Huriez syndrome; Palmoplantar hyperkeratosis-sclerodactyly syndrome; Palmoplantar keratoderma-sclerodactyly syndrome; Scleroatrophic syndrome; Sclerotylosis (ORPHA:384)
Association type: UNKNOWN
Gene: SMARCAD1
Disease: Isolated congenital adermatoglyphia; Congenital absence of fingerprints; Immigration delay disease (ORPHA:289465)
Association type: UNKNOWN
Gene: SMARCAD1
Disease: Absence of fingerprints-congenital milia syndrome; Absence of dermatoglyphics-congenital milia syndrome; Baird syndrome; Basan-Baird syndrome (ORPHA:1658)
Association type: UNKNOWN
Gene: PNPT1
Disease: SPINOCEREBELLAR ATAXIA 25 (OMIM:608703)
Association type: MENDELIAN
Gene: PNPT1
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 (OMIM:614932)
Association type: MENDELIAN
Gene: PNPT1
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 70 (OMIM:614934)
Association type: MENDELIAN
Gene: PNPT1
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: PNPT1
Disease: Combined oxidative phosphorylation defect type 13; COXPD13 (ORPHA:319514)
Association type: UNKNOWN
Gene: PNPT1
Disease: Spinocerebellar ataxia type 25; SCA25 (ORPHA:101111)
Association type: UNKNOWN
Gene: IL1RAPL1
Disease: MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
Association type: MENDELIAN
Gene: IL1RAPL1
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: SLC30A10
Disease: HYPERMANGANESEMIA WITH DYSTONIA 1 (OMIM:613280)
Association type: MENDELIAN
Gene: SLC30A10
Disease: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (ORPHA:309854)
Association type: UNKNOWN
Gene: EIF2S3
Disease: MEHMO SYNDROME (OMIM:300148)
Association type: MENDELIAN
Gene: EIF2S3
Disease: MEHMO syndrome; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome (ORPHA:85282)
Association type: UNKNOWN
Gene: GRXCR1
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
Association type: MENDELIAN
Gene: GRXCR1
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: PDGFRL
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: PDGFRL
Disease: HEPATOCELLULAR CARCINOMA (OMIM:114550)
Association type: MENDELIAN
Gene: PDGFRL
Disease: Adult hepatocellular carcinoma; Adult HCC (ORPHA:210159)
Association type: UNKNOWN
Gene: DLC1
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: MCC
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: TLR2
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: POLYGENIC
Gene: TLR2
Disease: LEPROSY, SUSCEPTIBILITY TO, 3 (OMIM:246300)
Association type: POLYGENIC
Gene: TLR2
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
Association type: POLYGENIC
Gene: PLA2G2A
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: POLYGENIC
Gene: AURKA
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: POLYGENIC
Gene: PTPN12
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: RBM20
Disease: CARDIOMYOPATHY, DILATED, 1DD (OMIM:613172)
Association type: MENDELIAN
Gene: RBM20
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: LTBP4
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC (OMIM:613177)
Association type: MENDELIAN
Gene: LTBP4
Disease: Duchenne muscular dystrophy; DMD; Severe dystrophinopathy, Duchenne type (ORPHA:98896)
Association type: UNKNOWN
Gene: LTBP4
Disease: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies; ARCL1C; Autosomal recessive cutis laxa type 1C; Urban-Rifkin-Davis syndrome (ORPHA:221145)
Association type: UNKNOWN
Gene: PNP
Disease: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY (OMIM:613179)
Association type: MENDELIAN
Gene: PNP
Disease: Purine nucleoside phosphorylase deficiency; PNP deficiency; PNPase deficiency (ORPHA:760)
Association type: UNKNOWN
Gene: STRA6
Disease: MICROPHTHALMIA, SYNDROMIC 9 (OMIM:601186)
Association type: MENDELIAN
Gene: STRA6
Disease: Colobomatous microphthalmia; MAC; Microphthalmia with colobomatous cyst; Microphthalmia-anophthalmia-coloboma syndrome (ORPHA:98938)
Association type: UNKNOWN
Gene: STRA6
Disease: Matthew-Wood syndrome; Anophthalmia-pulmonary hypoplasia syndrome; PDAC syndrome; Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome (ORPHA:2470)
Association type: UNKNOWN
Gene: CSTB
Disease: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG (OMIM:254800)
Association type: MENDELIAN
Gene: CSTB
Disease: Progressive myoclonic epilepsy type 1; EPM1; Progressive myoclonus epilepsy type 1; ULD; Unverricht-Lundborg disease (ORPHA:308)
Association type: UNKNOWN
Gene: CSTB
Disease: Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED; Autosomal recessive anhidrotic ectodermal dysplasia (ORPHA:248)
Association type: UNKNOWN
Gene: TRAPPC9
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13 (OMIM:613192)
Association type: MENDELIAN
Gene: TRAPPC9
Disease: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome; Autosomal recessive intellectual disability due to TRAPPC9 deficiency (ORPHA:352530)
Association type: UNKNOWN
Gene: TRAPPC9
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: DNAAF1
Disease: CILIARY DYSKINESIA, PRIMARY, 13 (OMIM:613193)
Association type: MENDELIAN
Gene: DNAAF1
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: ADAMTS17
Disease: WEILL-MARCHESANI SYNDROME 4 (OMIM:613195)
Association type: MENDELIAN
Gene: ADAMTS17
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ADAMTS17
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ADAMTS17
Disease: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome; 15q26.3 microdeletion syndrome (ORPHA:363992)
Association type: UNKNOWN
Gene: ADAMTS17
Disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Association type: UNKNOWN
Gene: USF1
Disease: HYPERLIPIDEMIA, FAMILIAL COMBINED, 1 (OMIM:602491)
Association type: POLYGENIC
Gene: ABCA3
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3 (OMIM:610921)
Association type: MENDELIAN
Gene: ABCA3
Disease: Pediatric acute respiratory distress syndrome; PARDS; Pediatric ARDS (ORPHA:685082)
Association type: UNKNOWN
Gene: ABCA3
Disease: Neonatal acute respiratory distress syndrome; Hyaline membrane disease; Neonatal RDS; Neonatal acute respiratory distress due to surfactant protein deficiency (ORPHA:217563)
Association type: UNKNOWN
Gene: ABCA3
Disease: Idiopathic pulmonary fibrosis; IPF (ORPHA:2032)
Association type: UNKNOWN
Gene: ABCA3
Disease: Interstitial lung disease due to ABCA3 deficiency; Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency (ORPHA:440402)
Association type: UNKNOWN
Gene: SLC26A1
Disease: NEPHROLITHIASIS, CALCIUM OXALATE (OMIM:167030)
Association type: MENDELIAN
Gene: SLC26A1
Disease: HYPERSULFATURIA (OMIM:620372)
Association type: MENDELIAN
Gene: GNAI3
Disease: AURICULOCONDYLAR SYNDROME 1 (OMIM:602483)
Association type: MENDELIAN
Gene: GNAI3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GNAI3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GNAI3
Disease: Auriculocondylar syndrome; Question mark ear syndrome (ORPHA:137888)
Association type: UNKNOWN
Gene: FOXC1
Disease: AXENFELD-RIEGER SYNDROME, TYPE 3 (OMIM:602482)
Association type: MENDELIAN
Gene: FOXC1
Disease: ANTERIOR SEGMENT DYSGENESIS 3 (OMIM:601631)
Association type: MENDELIAN
Gene: FOXC1
Disease: Isolated aniridia (ORPHA:250923)
Association type: UNKNOWN
Gene: FOXC1
Disease: Axenfeld-Rieger syndrome; Axenfeld syndrome; Rieger syndrome (ORPHA:782)
Association type: UNKNOWN
Gene: FOXC1
Disease: Axenfeld anomaly (ORPHA:98978)
Association type: UNKNOWN
Gene: FOXC1
Disease: Rieger anomaly (ORPHA:91483)
Association type: UNKNOWN
Gene: FOXC1
Disease: Peters anomaly; Peters congenital glaucoma (ORPHA:708)
Association type: UNKNOWN
Gene: HCN2
Disease: FEBRILE SEIZURES, FAMILIAL, 2 (OMIM:602477)
Association type: MENDELIAN
Gene: SLC34A3
Disease: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY (OMIM:241530)
Association type: MENDELIAN
Gene: SLC34A3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SLC34A3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SLC34A3
Disease: Hereditary hypophosphatemic rickets with hypercalciuria; HHRH (ORPHA:157215)
Association type: UNKNOWN
Gene: OCA2
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 (OMIM:227220)
Association type: MENDELIAN
Gene: OCA2
Disease: ALBINISM, OCULOCUTANEOUS, TYPE II (OMIM:203200)
Association type: MENDELIAN
Gene: OCA2
Disease: Oculocutaneous albinism type 2; OCA2 (ORPHA:79432)
Association type: UNKNOWN
Gene: OCA2
Disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Association type: UNKNOWN
Gene: OCA2
Disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Association type: UNKNOWN
Gene: OCA2
Disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Association type: UNKNOWN