TaoMedAI/RareMedData huggingface dataset:
Gene: SKIC2
Disease: TRICHOHEPATOENTERIC SYNDROME 2 (OMIM:614602)
Association type: MENDELIAN
Gene: SKIC2
Disease: Syndromic diarrhea; Phenotypic diarrhea; SD/THE; Syndromic diarrhea/Tricho-hepato-enteric syndrome; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome (ORPHA:84064)
Association type: UNKNOWN
Gene: STING1
Disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET (OMIM:615934)
Association type: MENDELIAN
Gene: STING1
Disease: STING-associated vasculopathy with onset in infancy; SAVI (ORPHA:425120)
Association type: UNKNOWN
Gene: STING1
Disease: Familial Chilblain lupus (ORPHA:481662)
Association type: UNKNOWN
Gene: BTD
Disease: BIOTINIDASE DEFICIENCY (OMIM:253260)
Association type: MENDELIAN
Gene: BTD
Disease: Biotinidase deficiency; Juvenile-onset multiple carboxylase deficiency; Late-onset multiple carboxylase deficiency (ORPHA:79241)
Association type: UNKNOWN
Gene: AKT3
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2 (OMIM:615937)
Association type: MENDELIAN
Gene: AKT3
Disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Association type: UNKNOWN
Gene: AKT3
Disease: Hemimegalencephaly; Unilateral megalencephaly (ORPHA:99802)
Association type: UNKNOWN
Gene: HLA-DQA1
Disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 1 (OMIM:212750)
Association type: POLYGENIC
Gene: HLA-DQA1
Disease: Idiopathic achalasia; Achalasia cardia; Idiopathic achalasia of esophagus; Primary achalasia (ORPHA:930)
Association type: UNKNOWN
Gene: HLA-DQA1
Disease: Adult-onset myasthenia gravis; Adult-onset acquired myasthenia; Adult-onset autoimmune myasthenia gravis (ORPHA:391490)
Association type: UNKNOWN
Gene: CCND2
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Association type: MENDELIAN
Gene: CCND2
Disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Association type: UNKNOWN
Gene: ARID1A
Disease: COFFIN-SIRIS SYNDROME 2 (OMIM:614607)
Association type: MENDELIAN
Gene: ARID1A
Disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Association type: UNKNOWN
Gene: KRT2
Disease: ICHTHYOSIS BULLOSA OF SIEMENS (OMIM:146800)
Association type: MENDELIAN
Gene: KRT2
Disease: Superficial epidermolytic ichthyosis; Ichthyosis bullosa of Siemens; SEI (ORPHA:455)
Association type: UNKNOWN
Gene: SMARCA4
Disease: COFFIN-SIRIS SYNDROME 4 (OMIM:614609)
Association type: MENDELIAN
Gene: SMARCA4
Disease: RHABDOID TUMOR PREDISPOSITION SYNDROME 2 (OMIM:613325)
Association type: POLYGENIC
Gene: SMARCA4
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: SMARCA4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SMARCA4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SMARCA4
Disease: OTOSCLEROSIS 12 (OMIM:620792)
Association type: MENDELIAN
Gene: SMARCA4
Disease: Rhabdoid tumor predisposition syndrome; RTPS (ORPHA:231108)
Association type: UNKNOWN
Gene: SMARCA4
Disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Association type: UNKNOWN
Gene: SMARCA4
Disease: Small cell carcinoma of the ovary; SCCO; Small cell ovarian carcinoma (ORPHA:370396)
Association type: UNKNOWN
Gene: SMARCA4
Disease: SMARCA4-deficient sarcoma of thorax; SMARCA4-deficient thoracic sarcoma (ORPHA:466962)
Association type: UNKNOWN
Gene: TRIM37
Disease: MULIBREY NANISM (OMIM:253250)
Association type: MENDELIAN
Gene: TRIM37
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TRIM37
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TRIM37
Disease: Mulibrey nanism; MUL; Mulibrey growth disorder; Muscle-liver-brain-eye nanism (ORPHA:2576)
Association type: UNKNOWN
Gene: PDE4D
Disease: ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:614613)
Association type: MENDELIAN
Gene: PDE4D
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PDE4D
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PDE4D
Disease: PDE4D haploinsufficiency syndrome (ORPHA:439822)
Association type: UNKNOWN
Gene: PDE4D
Disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Acrodysplasia; Arkless-Graham syndrome; Maroteaux-Malamut syndrome (ORPHA:950)
Association type: UNKNOWN
Gene: DAB1
Disease: SPINOCEREBELLAR ATAXIA 37 (OMIM:615945)
Association type: MENDELIAN
Gene: DAB1
Disease: Spinocerebellar ataxia type 37; SCA37; Spinocerebellar ataxia with altered vertical eye movements (ORPHA:363710)
Association type: UNKNOWN
Gene: CEACAM16
Disease: DEAFNESS, AUTOSOMAL DOMINANT 4B (OMIM:614614)
Association type: MENDELIAN
Gene: CEACAM16
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 113 (OMIM:618410)
Association type: MENDELIAN
Gene: CEACAM16
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: CEACAM16
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: METTL23
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 44 (OMIM:615942)
Association type: MENDELIAN
Gene: METTL23
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: MUC1
Disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2 (OMIM:174000)
Association type: MENDELIAN
Gene: MUC1
Disease: MUC1-related autosomal dominant tubulointerstitial kidney disease; ADTKD-MUC1; MCKD1; MUC1-related medullary cystic kidney disease; MUCI-related ADTKD; Medullary cystic kidney disease type 1 (ORPHA:88949)
Association type: UNKNOWN
Gene: C2CD3
Disease: OROFACIODIGITAL SYNDROME XIV (OMIM:615948)
Association type: MENDELIAN
Gene: C2CD3
Disease: Orofaciodigital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome; OFD14; Oral-facial-digital syndrome type 14 (ORPHA:434179)
Association type: UNKNOWN
Gene: SLC6A5
Disease: HYPEREKPLEXIA 3 (OMIM:614618)
Association type: MENDELIAN
Gene: SLC6A5
Disease: Hereditary hyperekplexia; Congenital stiff man syndrome; Familial startle disease; Hereditary hyperexplexia; Kok disease; Stiff baby syndrome (ORPHA:3197)
Association type: UNKNOWN
Gene: SLC39A5
Disease: MYOPIA 24, AUTOSOMAL DOMINANT (OMIM:615946)
Association type: MENDELIAN
Gene: SLC39A5
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SLC39A5
Disease: Rare isolated myopia (ORPHA:98619)
Association type: UNKNOWN
Gene: GPIHBP1
Disease: HYPERLIPOPROTEINEMIA, TYPE ID (OMIM:615947)
Association type: MENDELIAN
Gene: GPIHBP1
Disease: Familial GPIHBP1 deficiency; Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency (ORPHA:535458)
Association type: UNKNOWN
Gene: GUCY2C
Disease: DIARRHEA 6 (OMIM:614616)
Association type: MENDELIAN
Gene: GUCY2C
Disease: MECONIUM ILEUS (OMIM:614665)
Association type: MENDELIAN
Gene: GUCY2C
Disease: Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (ORPHA:314373)
Association type: UNKNOWN
Gene: GUCY2C
Disease: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency; Meconium ileus due to guanylate cyclase 2C deficiency (ORPHA:314376)
Association type: UNKNOWN
Gene: GUCY2C
Disease: Congenital sodium diarrhea; CSD; NHE3 deficiency; Na-H exchanger 3 deficiency; Non-syndromic congenital sodium diarrhea; Sodium/proton exchanger-3 deficiency (ORPHA:103908)
Association type: UNKNOWN
Gene: GLRB
Disease: HYPEREKPLEXIA 2 (OMIM:614619)
Association type: MENDELIAN
Gene: GLRB
Disease: Hereditary hyperekplexia; Congenital stiff man syndrome; Familial startle disease; Hereditary hyperexplexia; Kok disease; Stiff baby syndrome (ORPHA:3197)
Association type: UNKNOWN
Gene: HSD17B10
Disease: HSD10 MITOCHONDRIAL DISEASE (OMIM:300438)
Association type: MENDELIAN
Gene: HSD17B10
Disease: HSD10 disease, atypical type; HSD10 deficiency, atypical type; Syndromic X-linked intellectual disability type 10; X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome (ORPHA:85295)
Association type: UNKNOWN
Gene: HSD17B10
Disease: HSD10 disease, neonatal type; 2-methyl-3-hydroxybutyric aciduria, neonatal type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type; HSD10 deficiency, neonatal type; MHBD deficiency, neonatal type (ORPHA:391457)
Association type: UNKNOWN
Gene: HSD17B10
Disease: HSD10 disease, infantile type; 2-methyl-3-hydroxybutyric aciduria, classic type; 2-methyl-3-hydroxybutyric aciduria, infantile type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type; 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type; HSD10 deficiency, classic type; HSD10 deficiency, infantile type; HSD10 disease, classic type; MHBD deficiency, classic type; MHBD deficiency, infantile type (ORPHA:391428)
Association type: UNKNOWN
Gene: STAT3
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 (OMIM:615952)
Association type: MENDELIAN
Gene: STAT3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: STAT3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: STAT3
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:147060)
Association type: MENDELIAN
Gene: STAT3
Disease: Isolated permanent neonatal diabetes mellitus; Isolated PNDM; Monogenic diabetes of infancy (ORPHA:99885)
Association type: UNKNOWN
Gene: STAT3
Disease: T-cell large granular lymphocyte leukemia; Proliferation of large granular lymphocytes; T-LGL; T-cell LGL leukemia (ORPHA:86872)
Association type: UNKNOWN
Gene: STAT3
Disease: Chronic lymphoproliferative disorder of natural killer cells; CLPD-NK; CNKL; Chronic NK lymphocytosis; Chronic NK-cell lymphocytosis; Chronic lymphoproliferative disorder of NK-cells; NK-cell lineage granular lymphocyte proliferative disorder (ORPHA:512017)
Association type: UNKNOWN
Gene: STAT3
Disease: Breast implant-associated anaplastic large cell lymphoma; Breast implant-associated ALCL; Seroma-associated ALCL (ORPHA:667662)
Association type: UNKNOWN
Gene: STAT3
Disease: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency; AD-HIES due to STAT3 deficiency; Autosomal dominant HIES due to STAT3 deficiency; Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency; Buckley syndrome; Job syndrome (ORPHA:2314)
Association type: UNKNOWN
Gene: STAT3
Disease: Acute promyelocytic leukemia; AML M3; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; APML; Acute myeloblastic leukemia 3; Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants (ORPHA:520)
Association type: UNKNOWN
Gene: STAT3
Disease: STAT3-related early-onset multisystem autoimmune disease (ORPHA:438159)
Association type: UNKNOWN
Gene: KLK1
Disease: KALLIKREIN, DECREASED URINARY ACTIVITY OF (OMIM:615953)
Association type: MENDELIAN
Gene: ARMC5
Disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 (OMIM:615954)
Association type: POLYGENIC
Gene: ARMC5
Disease: Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMACD; CS due to BMAD; Cushing syndrome due to BMACD; Cushing syndrome due to BMAD; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia (ORPHA:189427)
Association type: UNKNOWN
Gene: SPEG
Disease: MYOPATHY, CENTRONUCLEAR, 5 (OMIM:615959)
Association type: MENDELIAN
Gene: SPEG
Disease: Autosomal recessive centronuclear myopathy; AR-CNM (ORPHA:169186)
Association type: UNKNOWN
Gene: ELOVL5
Disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Association type: MENDELIAN
Gene: ELOVL5
Disease: Spinocerebellar ataxia type 38; SCA38 (ORPHA:423296)
Association type: UNKNOWN
Gene: NR3C1
Disease: GLUCOCORTICOID RESISTANCE, GENERALIZED (OMIM:615962)
Association type: MENDELIAN
Gene: NR3C1
Disease: Cushing disease; Corticotroph pituitary adenoma; Pituitary corticotroph micro-adenoma; Pituitary-dependent Cushing syndrome (ORPHA:96253)
Association type: UNKNOWN
Gene: NR3C1
Disease: Generalized glucocorticoid resistance syndrome (ORPHA:786)
Association type: UNKNOWN
Gene: TNXB
Disease: VESICOURETERAL REFLUX 8 (OMIM:615963)
Association type: MENDELIAN
Gene: TNXB
Disease: EHLERS-DANLOS SYNDROME, CLASSIC-LIKE (OMIM:606408)
Association type: MENDELIAN
Gene: TNXB
Disease: Familial vesicoureteral reflux; Familial VUR (ORPHA:289365)
Association type: UNKNOWN
Gene: TNXB
Disease: Classical-like Ehlers-Danlos syndrome type 1; Classical-like EDS type 1; Ehlers-Danlos syndrome due to tenascin-X deficiency; clEDS type 1 (ORPHA:230839)
Association type: UNKNOWN
Gene: LAMA1
Disease: PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Association type: MENDELIAN
Gene: LAMA1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: LAMA1
Disease: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome; Poretti-Boltshauser syndrome (ORPHA:370022)
Association type: UNKNOWN
Gene: IGFALS
Disease: ACID-LABILE SUBUNIT DEFICIENCY (OMIM:615961)
Association type: MENDELIAN
Gene: IGFALS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IGFALS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IGFALS
Disease: Short stature due to primary acid-labile subunit deficiency (ORPHA:140941)
Association type: UNKNOWN
Gene: PRKDC
Disease: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES (OMIM:615966)
Association type: MENDELIAN
Gene: PRKDC
Disease: Severe combined immunodeficiency due to DNA-PKcs deficiency; SCID due to DNA-PKcs deficiency (ORPHA:317425)
Association type: UNKNOWN
Gene: TPRN
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 79 (OMIM:613307)
Association type: MENDELIAN
Gene: TPRN
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: RPS26
Disease: DIAMOND-BLACKFAN ANEMIA 10 (OMIM:613309)
Association type: MENDELIAN
Gene: RPS26
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: AGXT2
Disease: BETA-AMINOISOBUTYRIC ACIDURIA (OMIM:210100)
Association type: MENDELIAN
Gene: AFP
Disease: ALPHA-FETOPROTEIN DEFICIENCY (OMIM:615969)
Association type: MENDELIAN
Gene: AFP
Disease: ALPHA-FETOPROTEIN, HEREDITARY PERSISTENCE OF (OMIM:615970)
Association type: MENDELIAN
Gene: AFP
Disease: Hereditary persistence of alpha-fetoprotein (ORPHA:168615)
Association type: UNKNOWN
Gene: AFP
Disease: Congenital deficiency in alpha-fetoprotein (ORPHA:168612)
Association type: UNKNOWN
Gene: RPS10
Disease: DIAMOND-BLACKFAN ANEMIA 9 (OMIM:613308)
Association type: MENDELIAN
Gene: RPS10
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: ICOS
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 1 (OMIM:607594)
Association type: MENDELIAN
Gene: ICOS
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Association type: MENDELIAN
Gene: ICOS
Disease:  (ORPHA:695183)
Association type: UNKNOWN
Gene: UMOD
Disease: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 (OMIM:162000)
Association type: MENDELIAN
Gene: UMOD
Disease: UMOD-related autosomal dominant tubulointerstitial kidney disease; ADTKD-UMOD; Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation; Familial juvenile hyperuricemic nephropathy type 1; MCKD2; Medullary cystic kidney disease type 2; UAKD; UMOD kidney disease; UMOD-related ADTKD; Uromodulin-associated kidney disease (ORPHA:88950)
Association type: UNKNOWN
Gene: POC1B
Disease: CONE-ROD DYSTROPHY 20 (OMIM:615973)
Association type: MENDELIAN
Gene: POC1B
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: POC1B
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: TSPAN12
Disease: EXUDATIVE VITREORETINOPATHY 5 (OMIM:613310)
Association type: MENDELIAN
Gene: TSPAN12
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TSPAN12
Disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Association type: UNKNOWN
Gene: EPS8
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 102 (OMIM:615974)
Association type: MENDELIAN
Gene: EPS8
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: CRPPA
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Association type: MENDELIAN
Gene: CRPPA
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Association type: MENDELIAN
Gene: CRPPA
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: CRPPA
Disease: ISPD-related limb-girdle muscular dystrophy R20; Autosomal recessive limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20; LGMD type 2U; LGMD2U; Limb-girdle muscular dystrophy type 2U (ORPHA:352479)
Association type: UNKNOWN
Gene: CRPPA
Disease: Walker-Warburg syndrome; HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; WWS (ORPHA:899)
Association type: UNKNOWN
Gene: CRPPA
Disease: Muscle-eye-brain disease; MEB syndrome; Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy (ORPHA:588)
Association type: UNKNOWN
Gene: UVSSA
Disease: UV-SENSITIVE SYNDROME 3 (OMIM:614640)
Association type: MENDELIAN
Gene: UVSSA
Disease: UV-sensitive syndrome (ORPHA:178338)
Association type: UNKNOWN
Gene: TMEM98
Disease: NANOPHTHALMOS 4 (OMIM:615972)
Association type: MENDELIAN
Gene: TMEM98
Disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Association type: UNKNOWN
Gene: HAMP
Disease: HEMOCHROMATOSIS, TYPE 2B (OMIM:613313)
Association type: MENDELIAN
Gene: HAMP
Disease: Digenic hemochromatosis (ORPHA:648581)
Association type: UNKNOWN
Gene: HAMP
Disease: HJV or HAMP-related hemochromatosis; Hemochromatosis type 2; Juvenile hemochromatosis (ORPHA:79230)
Association type: UNKNOWN
Gene: FBXO31
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 45 (OMIM:615979)
Association type: MENDELIAN
Gene: FBXO31
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: ANO5
Disease: MIYOSHI MUSCULAR DYSTROPHY 3 (OMIM:613319)
Association type: MENDELIAN
Gene: ANO5
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ANO5
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12 (OMIM:611307)
Association type: MENDELIAN
Gene: ANO5
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ANO5
Disease: GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
Association type: MENDELIAN
Gene: ANO5
Disease: Gnathodiaphyseal dysplasia; GDD (ORPHA:53697)
Association type: UNKNOWN
Gene: ANO5
Disease: Distal anoctaminopathy; MMD3; Miyoshi muscular dystrophy type 3 (ORPHA:399096)
Association type: UNKNOWN
Gene: ANO5
Disease: Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome; Anoctamin-5-related myopathy pseudometabolic phenotype (ORPHA:689021)
Association type: UNKNOWN
Gene: ANO5
Disease: Isolated asymptomatic elevation of creatine phosphokinase; Idiopathic asymptomatic hyperCKemia; Isolated asymptomatic hyperCKemia (ORPHA:206599)
Association type: UNKNOWN
Gene: ANO5
Disease: Anoctamin-5-related limb-girdle muscular dystrophy R12; Anoctamin-5-related LGMD R12; Autosomal recessive limb-girdle muscular dystrophy type 2L; LGMD type 2L; LGMD2L; Limb-girdle muscular dystrophy type 2L (ORPHA:206549)
Association type: UNKNOWN
Gene: OPN1SW
Disease: TRITANOPIA (OMIM:190900)
Association type: MENDELIAN
Gene: OPN1SW
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: OPN1SW
Disease: Tritanopia; Blue colour blindness; Congenital tritanopia; Tritan colour blindness (ORPHA:88629)
Association type: UNKNOWN
Gene: NLGN3
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 (OMIM:300425)
Association type: POLYGENIC
Gene: OFD1
Disease: RETINITIS PIGMENTOSA 23 (OMIM:300424)
Association type: MENDELIAN
Gene: OFD1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: OFD1
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (OMIM:300209)
Association type: MENDELIAN
Gene: OFD1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: OFD1
Disease: JOUBERT SYNDROME 10 (OMIM:300804)
Association type: MENDELIAN
Gene: OFD1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: OFD1
Disease: OROFACIODIGITAL SYNDROME I (OMIM:311200)
Association type: MENDELIAN
Gene: OFD1
Disease: Orofaciodigital syndrome type 1; OFD1; OFDI; OFDSI; Oral-facial-digital syndrome type 1; Papillon-Léage-Psaume syndrome (ORPHA:2750)
Association type: UNKNOWN
Gene: OFD1
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: OFD1
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: OFD1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: OFD1
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: LIPE
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6 (OMIM:615980)
Association type: MENDELIAN
Gene: LIPE
Disease: LIPE-related familial partial lipodystrophy; FPLD6; LIPE-related FPLD (ORPHA:435660)
Association type: UNKNOWN
Gene: COQ6
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 6 (OMIM:614650)
Association type: MENDELIAN
Gene: COQ6
Disease: Full schwannomatosis; Full NF3; Full SWN; Full neurofibromatosis type 3; Neurilemmomatosis; Nonmosaic schwannomatosis (ORPHA:93921)
Association type: UNKNOWN
Gene: COQ6
Disease: Familial steroid-resistant nephrotic syndrome with sensorineural deafness; Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss (ORPHA:280406)
Association type: UNKNOWN