TaoMedAI/RareMedData huggingface dataset:
Gene: CERT1
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 34 (OMIM:616351)
Association type: MENDELIAN
Gene: CERT1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: CTNND1
Disease: BLEPHAROCHEILODONTIC SYNDROME 2 (OMIM:617681)
Association type: MENDELIAN
Gene: CTNND1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: CTNND1
Disease: Blepharo-cheilo-odontic syndrome; BCD syndrome; Blepharocheilodontic syndrome; Clefting-ectropion-conical teeth syndrome; Ectropion inferior-cleft lip and/or palate syndrome; Elschnig syndrome; Lagophthalmia-cleft lip and palate syndrome (ORPHA:1997)
Association type: UNKNOWN
Gene: PPP2R5D
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 35 (OMIM:616355)
Association type: MENDELIAN
Gene: PPP2R5D
Disease: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome (ORPHA:457279)
Association type: UNKNOWN
Gene: CERS3
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 (OMIM:615023)
Association type: MENDELIAN
Gene: CERS3
Disease: Congenital ichthyosiform erythroderma; CIE; Erythrodermic ichthyosis; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Association type: UNKNOWN
Gene: CERS3
Disease: Ichthyosis-short stature-brachydactyly-microspherophakia syndrome; 15q26.3 microdeletion syndrome (ORPHA:363992)
Association type: UNKNOWN
Gene: FBN1
Disease: MASS SYNDROME (OMIM:604308)
Association type: MENDELIAN
Gene: FBN1
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: FBN1
Disease: ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (OMIM:129600)
Association type: MENDELIAN
Gene: FBN1
Disease: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME (OMIM:616914)
Association type: MENDELIAN
Gene: FBN1
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: FBN1
Disease: GELEOPHYSIC DYSPLASIA 2 (OMIM:614185)
Association type: MENDELIAN
Gene: FBN1
Disease: STIFF SKIN SYNDROME (OMIM:184900)
Association type: MENDELIAN
Gene: FBN1
Disease: WEILL-MARCHESANI SYNDROME 2 (OMIM:608328)
Association type: MENDELIAN
Gene: FBN1
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: FBN1
Disease: ACROMICRIC DYSPLASIA (OMIM:102370)
Association type: MENDELIAN
Gene: FBN1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: FBN1
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: FBN1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FBN1
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: FBN1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FBN1
Disease: Stiff skin syndrome (ORPHA:2833)
Association type: UNKNOWN
Gene: FBN1
Disease: Progeroid and marfanoid aspect-lipodystrophy syndrome (ORPHA:300382)
Association type: UNKNOWN
Gene: FBN1
Disease: Acromicric dysplasia (ORPHA:969)
Association type: UNKNOWN
Gene: FBN1
Disease: Geleophysic dysplasia; Geleophysic dwarfism (ORPHA:2623)
Association type: UNKNOWN
Gene: FBN1
Disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Association type: UNKNOWN
Gene: FBN1
Disease: Isolated ectopia lentis; Ectopia lentis syndrome; Familial ectopia lentis (ORPHA:1885)
Association type: UNKNOWN
Gene: FBN1
Disease: Marfan syndrome type 1; MFS1 (ORPHA:284963)
Association type: UNKNOWN
Gene: FBN1
Disease: Neonatal Marfan syndrome; Neonatal MFS (ORPHA:284979)
Association type: UNKNOWN
Gene: FBN1
Disease: Shprintzen-Goldberg syndrome; Marfanoid craniosynostosis syndrome; SGS (ORPHA:2462)
Association type: UNKNOWN
Gene: FBN1
Disease: Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome; GEMSS syndrome (ORPHA:2084)
Association type: UNKNOWN
Gene: FBN1
Disease: Weill-Marchesani syndrome; Spherophakia-brachymorphia syndrome (ORPHA:3449)
Association type: UNKNOWN
Gene: SNX14
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 (OMIM:616354)
Association type: MENDELIAN
Gene: SNX14
Disease: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome; Autosomal recessive spinocerebellar ataxia type 20; Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome; SCAR20 (ORPHA:397709)
Association type: UNKNOWN
Gene: PNPLA1
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 (OMIM:615024)
Association type: MENDELIAN
Gene: PNPLA1
Disease: Congenital ichthyosiform erythroderma; CIE; Erythrodermic ichthyosis; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Association type: UNKNOWN
Gene: PARN
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 (OMIM:616353)
Association type: MENDELIAN
Gene: PARN
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4 (OMIM:616371)
Association type: MENDELIAN
Gene: PARN
Disease: Idiopathic pulmonary fibrosis; IPF (ORPHA:2032)
Association type: UNKNOWN
Gene: PARN
Disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Association type: UNKNOWN
Gene: PARN
Disease: Dyskeratosis congenita; DC; DKC; Zinsser-Engman-Cole syndrome (ORPHA:1775)
Association type: UNKNOWN
Gene: B3GALNT1
Disease: BLOOD GROUP, GLOBOSIDE SYSTEM (OMIM:615021)
Association type: MENDELIAN
Gene: B3GALNT1
Disease: BLOOD GROUP, P1PK SYSTEM (OMIM:111400)
Association type: MENDELIAN
Gene: EXPH5
Disease: EPIDERMOLYSIS BULLOSA, NONSPECIFIC, AUTOSOMAL RECESSIVE (OMIM:615028)
Association type: MENDELIAN
Gene: EXPH5
Disease: Epidermolysis bullosa simplex due to exophilin 5 deficiency; EBS due to exophilin 5 deficiency (ORPHA:412189)
Association type: UNKNOWN
Gene: CRYM
Disease: DEAFNESS, AUTOSOMAL DOMINANT 40 (OMIM:616357)
Association type: MENDELIAN
Gene: CRYM
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: DHTKD1
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q (OMIM:615025)
Association type: MENDELIAN
Gene: DHTKD1
Disease: 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA (OMIM:204750)
Association type: MENDELIAN
Gene: DHTKD1
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2Q; CMT2Q (ORPHA:329258)
Association type: UNKNOWN
Gene: DHTKD1
Disease: 2-aminoadipic 2-oxoadipic aciduria; Alpha-aminoadipic aciduria (ORPHA:79154)
Association type: UNKNOWN
Gene: SLC52A1
Disease: RIBOFLAVIN DEFICIENCY (OMIM:615026)
Association type: MENDELIAN
Gene: SLC52A1
Disease: Maternal riboflavin deficiency (ORPHA:411712)
Association type: UNKNOWN
Gene: NOG
Disease: SYMPHALANGISM, PROXIMAL, 1A (OMIM:185800)
Association type: MENDELIAN
Gene: NOG
Disease: BRACHYDACTYLY, TYPE B2 (OMIM:611377)
Association type: MENDELIAN
Gene: NOG
Disease: STAPES ANKYLOSIS WITH BROAD THUMBS AND TOES (OMIM:184460)
Association type: MENDELIAN
Gene: NOG
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NOG
Disease: TARSAL-CARPAL COALITION SYNDROME (OMIM:186570)
Association type: MENDELIAN
Gene: NOG
Disease: MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
Association type: MENDELIAN
Gene: NOG
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NOG
Disease: Proximal symphalangism; Symphalangism, Cushing type (ORPHA:3250)
Association type: UNKNOWN
Gene: NOG
Disease: Multiple synostoses syndrome; Deafness-Hermann type symphalangism syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome; Symphalangism-brachydactyly syndrome; WL syndrome (ORPHA:3237)
Association type: UNKNOWN
Gene: NOG
Disease: Tarsal-carpal coalition syndrome (ORPHA:1412)
Association type: UNKNOWN
Gene: NOG
Disease: Stapes ankylosis with broad thumbs and toes; Teunissen-Cremers syndrome (ORPHA:140917)
Association type: UNKNOWN
Gene: NOG
Disease: Brachydactyly type B2 (ORPHA:140908)
Association type: UNKNOWN
Gene: TYR
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (OMIM:606952)
Association type: MENDELIAN
Gene: TYR
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Association type: MENDELIAN
Gene: TYR
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (OMIM:601800)
Association type: POLYGENIC
Gene: TYR
Disease: Oculocutaneous albinism type 1A; OCA1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Association type: UNKNOWN
Gene: TYR
Disease: Oculocutaneous albinism type 1B; OCA1B; Oculocutaneous albinism, Amish type; Platinum oculocutaneous albinism; Yellow oculocutaneous albinism (ORPHA:79434)
Association type: UNKNOWN
Gene: TYR
Disease: Waardenburg syndrome type 2; WS2; Waardenburg syndrome type II (ORPHA:895)
Association type: UNKNOWN
Gene: TYR
Disease: Temperature-sensitive oculocutaneous albinism type 1; OCA1-TS; TS OCA type 1 (ORPHA:352737)
Association type: UNKNOWN
Gene: TYR
Disease: Minimal pigment oculocutaneous albinism type 1; MP OCA type 1; OCA1-MP (ORPHA:352734)
Association type: UNKNOWN
Gene: PPP2R1A
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36 (OMIM:616362)
Association type: MENDELIAN
Gene: PPP2R1A
Disease: Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome (ORPHA:457284)
Association type: UNKNOWN
Gene: CYP2U1
Disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Association type: MENDELIAN
Gene: CYP2U1
Disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Association type: UNKNOWN
Gene: F5
Disease: THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE (OMIM:188055)
Association type: MENDELIAN
Gene: F5
Disease: BUDD-CHIARI SYNDROME (OMIM:600880)
Association type: POLYGENIC
Gene: F5
Disease: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1 (OMIM:614389)
Association type: POLYGENIC
Gene: F5
Disease: STROKE, ISCHEMIC (OMIM:601367)
Association type: POLYGENIC
Gene: F5
Disease: FACTOR V DEFICIENCY (OMIM:227400)
Association type: MENDELIAN
Gene: F5
Disease: Congenital factor V deficiency; Owren disease; Parahemophilia; Proaccelerin deficiency (ORPHA:326)
Association type: UNKNOWN
Gene: F5
Disease: Cerebral sinovenous thrombosis; CSVT (ORPHA:329217)
Association type: UNKNOWN
Gene: F5
Disease: Budd-Chiari syndrome; BCS (ORPHA:131)
Association type: UNKNOWN
Gene: F5
Disease: Factor V Amsterdam bleeding disorder; FV Amsterdam bleeding disorder (ORPHA:599579)
Association type: UNKNOWN
Gene: F5
Disease: East Texas bleeding disorder; FV East Texas bleeding disorder; Factor V East Texas bleeding disorder (ORPHA:391320)
Association type: UNKNOWN
Gene: F5
Disease: Factor V Atlanta bleeding disorder; FV Atlanta bleeding disorder (ORPHA:600194)
Association type: UNKNOWN
Gene: TECPR2
Disease: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
Association type: MENDELIAN
Gene: TECPR2
Disease: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation; Autosomal recessive spastic paraplegia type 49; HSAN due to TECPR2 mutation; SPG49 (ORPHA:320385)
Association type: UNKNOWN
Gene: GRM1
Disease: SPINOCEREBELLAR ATAXIA 44 (OMIM:617691)
Association type: MENDELIAN
Gene: GRM1
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13 (OMIM:614831)
Association type: MENDELIAN
Gene: GRM1
Disease: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency; Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; Autosomal recessive spinocerebellar ataxia type 13; SCAR13 (ORPHA:324262)
Association type: UNKNOWN
Gene: GRM1
Disease: Chondromyxoid fibroma (ORPHA:404507)
Association type: UNKNOWN
Gene: GRM1
Disease: Spinocerebellar ataxia type 44 (ORPHA:631095)
Association type: UNKNOWN
Gene: SOHLH1
Disease: OVARIAN DYSGENESIS 5 (OMIM:617690)
Association type: MENDELIAN
Gene: SOHLH1
Disease: SPERMATOGENIC FAILURE 32 (OMIM:618115)
Association type: MENDELIAN
Gene: SOHLH1
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: KCNA2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 32 (OMIM:616366)
Association type: MENDELIAN
Gene: KCNA2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: ANO3
Disease: DYSTONIA 24 (OMIM:615034)
Association type: MENDELIAN
Gene: ANO3
Disease: Cranio-cervical dystonia with laryngeal and upper-limb involvement; DYT24; Dystonia 24 (ORPHA:420485)
Association type: UNKNOWN
Gene: MTRFR
Disease: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE (OMIM:615035)
Association type: MENDELIAN
Gene: MTRFR
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MTRFR
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7 (OMIM:613559)
Association type: MENDELIAN
Gene: MTRFR
Disease: Autosomal recessive spastic paraplegia type 55; SPG55 (ORPHA:320375)
Association type: UNKNOWN
Gene: MTRFR
Disease: Combined oxidative phosphorylation defect type 7; COXPD7; Severe C12ORF65-related COXPD; Severe C12ORF65-related combined oxidative phosphorylation defect (ORPHA:254930)
Association type: UNKNOWN
Gene: TBC1D23
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 (OMIM:617695)
Association type: MENDELIAN
Gene: POGZ
Disease: WHITE-SUTTON SYNDROME (OMIM:616364)
Association type: MENDELIAN
Gene: POGZ
Disease: White-Sutton syndrome; Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome (ORPHA:468678)
Association type: UNKNOWN
Gene: CHD8
Disease: AUTISM, SUSCEPTIBILITY TO, 18 (OMIM:615032)
Association type: MENDELIAN
Gene: CHD8
Disease: CHD8 overgrowth syndrome; CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome; Chromodomain helicase DNA binding protein 8 overgrowth syndrome (ORPHA:642675)
Association type: UNKNOWN
Gene: CHD8
Disease: 14q11.2 microduplication syndrome; Dup(14)(q11.2); Trisomy 14q11.2 (ORPHA:261229)
Association type: UNKNOWN
Gene: CDK10
Disease: AL KAISSI SYNDROME (OMIM:617694)
Association type: MENDELIAN
Gene: DDHD2
Disease: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
Association type: MENDELIAN
Gene: DDHD2
Disease: Autosomal recessive spastic paraplegia type 54; SPG54 (ORPHA:320380)
Association type: UNKNOWN
Gene: F13A1
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Association type: POLYGENIC
Gene: F13A1
Disease: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO (OMIM:608446)
Association type: POLYGENIC
Gene: F13A1
Disease: FACTOR XIII, A SUBUNIT, DEFICIENCY OF (OMIM:613225)
Association type: MENDELIAN
Gene: F13A1
Disease: Congenital factor XIII deficiency; Fibrin-stabilizing factor deficiency (ORPHA:331)
Association type: UNKNOWN
Gene: F2
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Association type: MENDELIAN
Gene: F2
Disease: PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2 (OMIM:614390)
Association type: POLYGENIC
Gene: F2
Disease: STROKE, ISCHEMIC (OMIM:601367)
Association type: POLYGENIC
Gene: F2
Disease: PROTHROMBIN DEFICIENCY, CONGENITAL (OMIM:613679)
Association type: MENDELIAN
Gene: F2
Disease: Congenital factor II deficiency; Dysprothrombinemia; Hypoprothrombinemia; Prothrombin deficiency (ORPHA:325)
Association type: UNKNOWN
Gene: F2
Disease: Cerebral sinovenous thrombosis; CSVT (ORPHA:329217)
Association type: UNKNOWN
Gene: AFF4
Disease: CHOPS SYNDROME (OMIM:616368)
Association type: MENDELIAN
Gene: AFF4
Disease: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome; CHOPS syndrome (ORPHA:444077)
Association type: UNKNOWN
Gene: TIMM50
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX (OMIM:617698)
Association type: MENDELIAN
Gene: TIMM50
Disease: 3-methylglutaconic aciduria type 9; 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome; MGA9 (ORPHA:505216)
Association type: UNKNOWN
Gene: EDNRA
Disease: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA (OMIM:616367)
Association type: MENDELIAN
Gene: EDNRA
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 (OMIM:157300)
Association type: POLYGENIC
Gene: EDNRA
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EDNRA
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EDNRA
Disease: Mandibulofacial dysostosis with alopecia; MFDA (ORPHA:443995)
Association type: UNKNOWN
Gene: EDNRA
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: PYGL
Disease: GLYCOGEN STORAGE DISEASE VI (OMIM:232700)
Association type: MENDELIAN
Gene: PYGL
Disease: Glycogen storage disease due to liver glycogen phosphorylase deficiency; GSD due to liver glycogen phosphorylase deficiency; GSD type 6; GSD type VI; Glycogen storage disease type 6; Glycogen storage disease type VI; Glycogenosis due to liver glycogen phosphorylase deficiency; Glycogenosis type 6; Glycogenosis type VI; Hepatic glycogen phosphorylase deficiency; Hepatic phosphorylase deficiency; Hers disease; Liver glycogen phosphorylase deficiency (ORPHA:369)
Association type: UNKNOWN
Gene: ACTA1
Disease: NEMALINE MYOPATHY 3 (OMIM:161800)
Association type: MENDELIAN
Gene: ACTA1
Disease: MYOPATHY, SCAPULOHUMEROPERONEAL (OMIM:616852)
Association type: MENDELIAN
Gene: ACTA1
Disease: CONGENITAL MYOPATHY 2B, SEVERE INFANTILE, AUTOSOMAL RECESSIVE (OMIM:620265)
Association type: MENDELIAN
Gene: ACTA1
Disease: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT (OMIM:620278)
Association type: MENDELIAN
Gene: ACTA1
Disease: Zebra body myopathy (ORPHA:97240)
Association type: UNKNOWN
Gene: ACTA1
Disease: Rigid spine syndrome; Rigid spine congenital muscular dystrophy (ORPHA:97244)
Association type: UNKNOWN
Gene: ACTA1
Disease: Progressive scapulohumeroperoneal distal myopathy (ORPHA:447977)
Association type: UNKNOWN
Gene: ACTA1
Disease: Congenital fiber-type disproportion myopathy; CFTDM (ORPHA:2020)
Association type: UNKNOWN
Gene: ACTA1
Disease: Typical nemaline myopathy (ORPHA:171436)
Association type: UNKNOWN
Gene: ACTA1
Disease: Intermediate nemaline myopathy (ORPHA:171433)
Association type: UNKNOWN
Gene: ACTA1
Disease: Severe congenital nemaline myopathy (ORPHA:171430)
Association type: UNKNOWN
Gene: ACTA1
Disease: Childhood-onset nemaline myopathy; Mild nemaline myopathy (ORPHA:171439)
Association type: UNKNOWN
Gene: ACTA1
Disease: Congenital myopathy with excess of thin filaments; Actin myopathy (ORPHA:98904)
Association type: UNKNOWN
Gene: TPO
Disease: THYROID DYSHORMONOGENESIS 2A (OMIM:274500)
Association type: MENDELIAN
Gene: TPO
Disease: Familial thyroid dyshormonogenesis; Thyroid dyshormonogenesis (ORPHA:95716)
Association type: UNKNOWN
Gene: USH1G
Disease: USHER SYNDROME, TYPE IG (OMIM:606943)
Association type: MENDELIAN
Gene: USH1G
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: USH1G
Disease: Usher syndrome type 1; USH1 (ORPHA:231169)
Association type: UNKNOWN
Gene: RXYLT1
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 (OMIM:615041)
Association type: MENDELIAN
Gene: RXYLT1
Disease: Walker-Warburg syndrome; HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; WWS (ORPHA:899)
Association type: UNKNOWN
Gene: DPM2
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu (OMIM:615042)
Association type: MENDELIAN
Gene: DPM2
Disease: Congenital muscular dystrophy with intellectual disability and severe epilepsy; CDG syndrome type Iu; CDG-Iu; CDG1U; CMD with intellectual disability and severe epilepsy; Carbohydrate deficient glycoprotein syndrome type Iu; Congenital disorder of glycosylation type 1u; Congenital disorder of glycosylation type Iu; DPM2-CDG (ORPHA:329178)
Association type: UNKNOWN
Gene: ISCA2
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4 (OMIM:616370)
Association type: MENDELIAN
Gene: ISCA2
Disease: Multiple mitochondrial dysfunctions syndrome type 4; MMDS4 (ORPHA:457406)
Association type: UNKNOWN
Gene: TRPA1
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 1 (OMIM:615040)
Association type: MENDELIAN
Gene: TRPA1
Disease: Cramp-fasciculation syndrome (ORPHA:581271)
Association type: UNKNOWN
Gene: TRPA1
Disease: Familial episodic pain syndrome with predominantly upper body involvement (ORPHA:391389)
Association type: UNKNOWN
Gene: C19orf12
Disease: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
Association type: MENDELIAN
Gene: C19orf12
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (OMIM:614298)
Association type: MENDELIAN
Gene: CHCHD10
Disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Association type: MENDELIAN
Gene: CHCHD10
Disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Association type: MENDELIAN
Gene: CHCHD10
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Association type: MENDELIAN
Gene: CHCHD10
Disease: Frontotemporal dementia with motor neuron disease; FTD-ALS; FTD-MND; Frontotemporal dementia with amyotrophic lateral sclerosis (ORPHA:275872)
Association type: UNKNOWN
Gene: CHCHD10
Disease: Lower motor neuron syndrome with late-adult onset; LOSMoN; Late-onset spinal motor neuronopathy; SMAJ; Spinal muscular atrophy, Jokela type (ORPHA:276435)
Association type: UNKNOWN
Gene: CHCHD10
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: CHCHD10
Disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
Association type: UNKNOWN
Gene: IL23R
Disease: PSORIASIS 7, SUSCEPTIBILITY TO (OMIM:605606)
Association type: POLYGENIC
Gene: IL23R
Disease: INFLAMMATORY BOWEL DISEASE 17 (OMIM:612261)
Association type: POLYGENIC
Gene: IL23R
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: ALS2
Disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Association type: MENDELIAN
Gene: ALS2
Disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Association type: MENDELIAN
Gene: ALS2
Disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Association type: MENDELIAN
Gene: ALS2
Disease: Juvenile amyotrophic lateral sclerosis; JALS; Juvenile Charcot disease; Juvenile Lou Gehrig disease (ORPHA:300605)
Association type: UNKNOWN
Gene: ALS2
Disease: Infantile-onset ascending hereditary spastic paralysis; IAHSP (ORPHA:293168)
Association type: UNKNOWN
Gene: ALS2
Disease: Juvenile primary lateral sclerosis; JPLS; Juvenile PLS (ORPHA:247604)
Association type: UNKNOWN
Gene: LRIT3
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F (OMIM:615058)
Association type: MENDELIAN
Gene: LRIT3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: LRIT3
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: SNRPE
Disease: HYPOTRICHOSIS 11 (OMIM:615059)
Association type: MENDELIAN
Gene: SNRPE
Disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Association type: UNKNOWN
Gene: PTH
Disease: HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 1 (OMIM:146200)
Association type: MENDELIAN
Gene: PTH
Disease: Familial isolated hypoparathyroidism due to impaired PTH secretion (ORPHA:189466)
Association type: UNKNOWN
Gene: CRB2
Disease: VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE (OMIM:219730)
Association type: MENDELIAN
Gene: CRB2
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9 (OMIM:616220)
Association type: MENDELIAN
Gene: CRB2
Disease: Ventriculomegaly-cystic kidney disease; Congenital nephrosis-cerebral ventriculomegaly syndrome; VMCKD (ORPHA:443988)
Association type: UNKNOWN
Gene: CRB2
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