TaoMedAI/RareMedData huggingface dataset:
Gene: GJB2
Disease: DEAFNESS, X-LINKED 2 (OMIM:304400)
Association type: MENDELIAN
Gene: GJB2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Association type: MENDELIAN
Gene: GJB2
Disease: DEAFNESS, AUTOSOMAL DOMINANT 3A (OMIM:601544)
Association type: MENDELIAN
Gene: GJB2
Disease: KERATODERMA, PALMOPLANTAR, WITH DEAFNESS (OMIM:148350)
Association type: MENDELIAN
Gene: GJB2
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: GJB2
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: GJB2
Disease: Porokeratotic eccrine ostial and dermal duct nevus; Comedo nevus of the palm; Porokeratotic eccrine nevus (ORPHA:166286)
Association type: UNKNOWN
Gene: GJB2
Disease: Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome; Bart-Pumphrey syndrome; Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome; Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome; Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome (ORPHA:2698)
Association type: UNKNOWN
Gene: GJB2
Disease: KID syndrome; Ichthyosis hystrix Rheydt type; KID/HID syndrome; Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome; Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome; Senter syndrome (ORPHA:477)
Association type: UNKNOWN
Gene: GJB2
Disease: Keratoderma hereditarium mutilans; Mutilating keratoderma of Vohwinkel; Mutilating keratoderma plus deafness; Mutilating keratoderma plus hearing loss; PPK mutilans and deafness; PPK mutilans and hearing loss; Vohwinkel syndrome (ORPHA:494)
Association type: UNKNOWN
Gene: GJB2
Disease: Palmoplantar keratoderma-deafness syndrome; PPK-deafness syndrome; Palmoplantar hyperkeratosis-deafness syndrome; Palmoplantar hyperkeratosis-hearing loss syndrome; Palmoplantar keratoderma-hearing loss syndrome (ORPHA:2202)
Association type: UNKNOWN
Gene: RNASET2
Disease: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY (OMIM:612951)
Association type: MENDELIAN
Gene: RNASET2
Disease: Cystic leukoencephalopathy without megalencephaly; CLWM (ORPHA:85136)
Association type: UNKNOWN
Gene: TPP1
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 (OMIM:609270)
Association type: MENDELIAN
Gene: TPP1
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2 (OMIM:204500)
Association type: MENDELIAN
Gene: TPP1
Disease:  (ORPHA:699769)
Association type: UNKNOWN
Gene: TPP1
Disease:  (ORPHA:699761)
Association type: UNKNOWN
Gene: TPP1
Disease:  (ORPHA:699751)
Association type: UNKNOWN
Gene: TPP1
Disease: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia; Autosomal recessive spinocerebellar ataxia type 7; SCAR7 (ORPHA:284324)
Association type: UNKNOWN
Gene: PLA2G6
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
Association type: MENDELIAN
Gene: PLA2G6
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
Association type: MENDELIAN
Gene: PLA2G6
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
Association type: MENDELIAN
Gene: PLA2G6
Disease: Adult-onset dystonia-parkinsonism; Dystonia-parkinsonism, Paisan-Ruiz type; PARK14; PLA2G6-related dystonia-parkinsonism (ORPHA:199351)
Association type: UNKNOWN
Gene: PLA2G6
Disease: Infantile neuroaxonal dystrophy; INAD; INAD1; PLAN; Phospholipase A2-associated neurodegeneration; Seitelberger disease (ORPHA:35069)
Association type: UNKNOWN
Gene: SAMHD1
Disease: AICARDI-GOUTIERES SYNDROME 5 (OMIM:612952)
Association type: MENDELIAN
Gene: SAMHD1
Disease: CHILBLAIN LUPUS 2 (OMIM:614415)
Association type: MENDELIAN
Gene: SAMHD1
Disease: Aicardi-Goutières syndrome; Encephalopathy with basal ganglia calcification; Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid (ORPHA:51)
Association type: UNKNOWN
Gene: SAMHD1
Disease: Familial Chilblain lupus (ORPHA:481662)
Association type: UNKNOWN
Gene: PRKAR1A
Disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE (OMIM:101800)
Association type: MENDELIAN
Gene: PRKAR1A
Disease: CARNEY COMPLEX, TYPE 1 (OMIM:160980)
Association type: MENDELIAN
Gene: PRKAR1A
Disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1 (OMIM:610489)
Association type: MENDELIAN
Gene: PRKAR1A
Disease: MYXOMA, INTRACARDIAC (OMIM:255960)
Association type: MENDELIAN
Gene: PRKAR1A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PRKAR1A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PRKAR1A
Disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Association type: UNKNOWN
Gene: PRKAR1A
Disease: Isolated primary pigmented nodular adrenocortical disease; Isolated PPNAD; i-PPNAD (ORPHA:647772)
Association type: UNKNOWN
Gene: PRKAR1A
Disease: Acrodysostosis; Acrodysostosis with or without multiple hormonal resistance; Acrodysplasia; Arkless-Graham syndrome; Maroteaux-Malamut syndrome (ORPHA:950)
Association type: UNKNOWN
Gene: PRKAR1A
Disease: Carney complex; Carney syndrome; Myxoma-spotty pigmentation-endocrine overactivity syndrome (ORPHA:1359)
Association type: UNKNOWN
Gene: PRKAR1A
Disease: Familial atrial myxoma (ORPHA:615)
Association type: UNKNOWN
Gene: PRKAR1A
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: SNTA1
Disease: LONG QT SYNDROME 12 (OMIM:612955)
Association type: MENDELIAN
Gene: SNTA1
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: SNTA1
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: DPP6
Disease: VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2 (OMIM:612956)
Association type: POLYGENIC
Gene: DPP6
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 33 (OMIM:616311)
Association type: MENDELIAN
Gene: DPP6
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: DPP6
Disease: Idiopathic ventricular fibrillation, non Brugada type; Familial paroxysmal ventricular fibrillation, non Brugada type (ORPHA:228140)
Association type: UNKNOWN
Gene: DPP6
Disease: Autosomal dominant primary microcephaly (ORPHA:2514)
Association type: UNKNOWN
Gene: ADAMTSL4
Disease: ECTOPIA LENTIS ET PUPILLAE (OMIM:225200)
Association type: MENDELIAN
Gene: ADAMTSL4
Disease: ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE (OMIM:225100)
Association type: MENDELIAN
Gene: ADAMTSL4
Disease: Isolated ectopia lentis; Ectopia lentis syndrome; Familial ectopia lentis (ORPHA:1885)
Association type: UNKNOWN
Gene: CD151
Disease: RAPH BLOOD GROUP SYSTEM (OMIM:179620)
Association type: MENDELIAN
Gene: CD151
Disease: NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS (OMIM:609057)
Association type: MENDELIAN
Gene: CD151
Disease: Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome; EBS with nephropathy; Epidermolysis bullosa simplex with nephropathy; Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome (ORPHA:300333)
Association type: UNKNOWN
Gene: MFN2
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Association type: MENDELIAN
Gene: MFN2
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Association type: MENDELIAN
Gene: MFN2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MFN2
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Association type: MENDELIAN
Gene: MFN2
Disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Association type: MENDELIAN
Gene: MFN2
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Association type: UNKNOWN
Gene: MFN2
Disease: Hereditary motor and sensory neuropathy type 6; CMT6; Charcot-Marie-Tooth disease type 6; HMSN 6; HMSN VI; Hereditary motor and sensory neuropathy type VI; Peripheral neuropathy and optic atrophy (ORPHA:90120)
Association type: UNKNOWN
Gene: MFN2
Disease: Severe early-onset axonal neuropathy due to MFN2 deficiency; AR-CMT2, Ouvrier type; Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type; SEOAN due to MFN2 deficiency (ORPHA:90118)
Association type: UNKNOWN
Gene: MFN2
Disease: Multiple symmetric lipomatosis; Cephalothoracic lipodystrophy; Familial benign cervical lipomatosis; Launois-Bensaude lipomatosis; Madelung disease (ORPHA:2398)
Association type: UNKNOWN
Gene: MFN2
Disease: Hereditary motor and sensory neuropathy type 5; Charcot-Marie-Tooth disease-pyramidal features syndrome; HMSN 5; HMSN V; Hereditary motor and sensory neuropathy type V (ORPHA:64751)
Association type: UNKNOWN
Gene: FGF9
Disease: MULTIPLE SYNOSTOSES SYNDROME 3 (OMIM:612961)
Association type: MENDELIAN
Gene: FGF9
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FGF9
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FGF9
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: NR5A1
Disease: PREMATURE OVARIAN FAILURE 7 (OMIM:612964)
Association type: MENDELIAN
Gene: NR5A1
Disease: 46,XY SEX REVERSAL 3 (OMIM:612965)
Association type: MENDELIAN
Gene: NR5A1
Disease: 46,XX SEX REVERSAL 4 (OMIM:617480)
Association type: MENDELIAN
Gene: NR5A1
Disease: SPERMATOGENIC FAILURE 8 (OMIM:613957)
Association type: MENDELIAN
Gene: NR5A1
Disease: 46,XX testicular difference of sex development; 46,XX testicular DSD; 46,XX testicular disorder of sex development; De la Chapelle syndrome; XX, male syndrome (ORPHA:393)
Association type: UNKNOWN
Gene: NR5A1
Disease: 46,XY partial gonadal dysgenesis; 46,XY PGD; 46,XY partial testicular dysgenesis (ORPHA:251510)
Association type: UNKNOWN
Gene: NR5A1
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: NR5A1
Disease: 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; 46,XX ovarian dysgenesis; 46,XX pure gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD (ORPHA:243)
Association type: UNKNOWN
Gene: NR5A1
Disease: 46,XY complete gonadal dysgenesis; 46,XY CGD; 46,XY pure gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Association type: UNKNOWN
Gene: NR5A1
Disease: 46,XX ovotesticular difference of sex development; 46,XX ovotesticular DSD; 46,XX ovotesticular disorder of sex development (ORPHA:2138)
Association type: UNKNOWN
Gene: FOXE3
Disease: CATARACT 34, MULTIPLE TYPES (OMIM:612968)
Association type: MENDELIAN
Gene: FOXE3
Disease: ANTERIOR SEGMENT DYSGENESIS 2 (OMIM:610256)
Association type: MENDELIAN
Gene: FOXE3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: FOXE3
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO (OMIM:617349)
Association type: POLYGENIC
Gene: FOXE3
Disease: Congenital primary aphakia (ORPHA:83461)
Association type: UNKNOWN
Gene: FOXE3
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: FOXE3
Disease: Peters anomaly; Peters congenital glaucoma (ORPHA:708)
Association type: UNKNOWN
Gene: SHH
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (OMIM:611638)
Association type: MENDELIAN
Gene: SHH
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR (OMIM:147250)
Association type: MENDELIAN
Gene: SHH
Disease: HOLOPROSENCEPHALY 3 (OMIM:142945)
Association type: MENDELIAN
Gene: SHH
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SHH
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SHH
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: SHH
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: SHH
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: SHH
Disease: Midline interhemispheric variant of holoprosencephaly; MIH; MIH type HPE; MIHF; MIHV; Middle interhemispheric fusion variant; Middle interhemispheric variant of holoprosencephaly; Syntelencephaly (ORPHA:93926)
Association type: UNKNOWN
Gene: SHH
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: SHH
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: SHH
Disease: Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome; Absent tibia-polydactyly syndrome; Werner mesomelic spectrum (ORPHA:988)
Association type: UNKNOWN
Gene: SHH
Disease: Colobomatous microphthalmia; MAC; Microphthalmia with colobomatous cyst; Microphthalmia-anophthalmia-coloboma syndrome (ORPHA:98938)
Association type: UNKNOWN
Gene: SHH
Disease: Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome (ORPHA:476119)
Association type: UNKNOWN
Gene: SHH
Disease: Polydactyly of a triphalangeal thumb; PPD2; Preaxial polydactyly type 2 (ORPHA:93336)
Association type: UNKNOWN
Gene: SHH
Disease: Isolated radial hemimelia; Isolated congenital longitudinal deficiency of the radius; Isolated radial club hand; Isolated radial longitidinal meromelia; Isolated radial ray agenesis (ORPHA:93321)
Association type: UNKNOWN
Gene: SHH
Disease: Syndactyly type 4; Polysyndactyly, Haas type (ORPHA:93405)
Association type: UNKNOWN
Gene: SHH
Disease: Acquired schizencephaly (ORPHA:485275)
Association type: UNKNOWN
Gene: CHEK2
Disease: LI-FRAUMENI SYNDROME 2 (OMIM:609265)
Association type: MENDELIAN
Gene: CHEK2
Disease: OSTEOGENIC SARCOMA (OMIM:259500)
Association type: MENDELIAN
Gene: CHEK2
Disease: PROSTATE CANCER (OMIM:176807)
Association type: MENDELIAN
Gene: CHEK2
Disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Association type: UNKNOWN
Gene: CHEK2
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: CHEK2
Disease: Osteosarcoma; Osteogenic sarcoma (ORPHA:668)
Association type: UNKNOWN
Gene: CHEK2
Disease: Li-Fraumeni syndrome (ORPHA:524)
Association type: UNKNOWN
Gene: CHEK2
Disease: Familial colorectal cancer Type X; FCCTX (ORPHA:440437)
Association type: UNKNOWN
Gene: ABCC9
Disease: CANTU SYNDROME (OMIM:239850)
Association type: MENDELIAN
Gene: ABCC9
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: ABCC9
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: ABCC9
Disease: CARDIOMYOPATHY, DILATED, 1O (OMIM:608569)
Association type: MENDELIAN
Gene: ABCC9
Disease: ATRIAL FIBRILLATION, FAMILIAL, 12 (OMIM:614050)
Association type: MENDELIAN
Gene: ABCC9
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ABCC9
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ABCC9
Disease: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME (OMIM:619719)
Association type: MENDELIAN
Gene: ABCC9
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: ABCC9
Disease: Cantú syndrome; Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Association type: UNKNOWN
Gene: ABCC9
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: ABCC9
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: XYLT1
Disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Association type: POLYGENIC
Gene: XYLT1
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: XYLT1
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: XYLT1
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: XYLT1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: XYLT1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: XYLT1
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: XYLT1
Disease: XYLT1-CDG (ORPHA:370930)
Association type: UNKNOWN
Gene: XYLT1
Disease: Desbuquois syndrome; DBQD; Desbuquois dysplasia (ORPHA:1425)
Association type: UNKNOWN
Gene: ABCC6
Disease: PSEUDOXANTHOMA ELASTICUM (OMIM:264800)
Association type: MENDELIAN
Gene: ABCC6
Disease: PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE (OMIM:177850)
Association type: MENDELIAN
Gene: ABCC6
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ABCC6
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 (OMIM:208000)
Association type: MENDELIAN
Gene: ABCC6
Disease: ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2 (OMIM:614473)
Association type: MENDELIAN
Gene: ABCC6
Disease: Pseudoxanthoma elasticum; Gronblad-Strandberg-Touraine syndrome; PXE (ORPHA:758)
Association type: UNKNOWN
Gene: ABCC6
Disease: Generalized arterial calcification of infancy; Idiopathic infantile arterial calcification; Idiopathic obliterative arteriopathy; Infantile arteriosclerosis; Occlusive infantile arteriopathy (ORPHA:51608)
Association type: UNKNOWN
Gene: BHLHE41
Disease: SHORT SLEEP, FAMILIAL NATURAL, 1 (OMIM:612975)
Association type: MENDELIAN
Gene: CFAP221
Disease: YOUNG SYNDROME (OMIM:279000)
Association type: MENDELIAN
Gene: CFAP221
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: CLCF1
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2 (OMIM:610313)
Association type: MENDELIAN
Gene: CLCF1
Disease: Crisponi syndrome (ORPHA:1545)
Association type: UNKNOWN
Gene: CLCF1
Disease: Cold-induced sweating syndrome; CISS (ORPHA:157820)
Association type: UNKNOWN
Gene: IQCB1
Disease: SENIOR-LOKEN SYNDROME 5 (OMIM:609254)
Association type: MENDELIAN
Gene: IQCB1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: IQCB1
Disease: Senior-Loken syndrome; Nephronophthisis with retinal dystrophy; Renal dysplasia-retinal aplasia syndrome; SLSN (ORPHA:3156)
Association type: UNKNOWN
Gene: IQCB1
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: IHH
Disease: BRACHYDACTYLY, TYPE A1 (OMIM:112500)
Association type: MENDELIAN
Gene: IHH
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IHH
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IHH
Disease: ACROCAPITOFEMORAL DYSPLASIA (OMIM:607778)
Association type: MENDELIAN
Gene: IHH
Disease: Acrocapitofemoral dysplasia (ORPHA:63446)
Association type: UNKNOWN
Gene: IHH
Disease: Brachydactyly type A1; Brachydactyly, Farabee type (ORPHA:93388)
Association type: UNKNOWN
Gene: KRT4
Disease: WHITE SPONGE NEVUS 1 (OMIM:193900)
Association type: MENDELIAN
Gene: KRT4
Disease: White sponge nevus; Hereditary mucosal leukokeratosis; White sponge nevus of Cannon (ORPHA:171723)
Association type: UNKNOWN
Gene: NAGA
Disease: SCHINDLER DISEASE, TYPE I (OMIM:609241)
Association type: MENDELIAN
Gene: NAGA
Disease: KANZAKI DISEASE (OMIM:609242)
Association type: MENDELIAN
Gene: NAGA
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: NAGA
Disease: Alpha-N-acetylgalactosaminidase deficiency type 2; Adult-onset Alpha-N-acetylgalactosaminidase deficiency; Kanzaki disease; NAGA deficiency type 2; Schindler disease type 2 (ORPHA:79280)
Association type: UNKNOWN
Gene: NAGA
Disease: Alpha-N-acetylgalactosaminidase deficiency type 3; NAGA deficiency type 3; Schindler disease type 3 (ORPHA:79281)
Association type: UNKNOWN
Gene: NAGA
Disease: Alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1; Schindler disease type 1 (ORPHA:79279)
Association type: UNKNOWN
Gene: PIGL
Disease: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME (OMIM:280000)
Association type: MENDELIAN
Gene: PIGL
Disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Association type: UNKNOWN
Gene: PIGL
Disease: CHIME syndrome; Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome; Congenital disorder of glycosylation due to PIGL deficiency; Neuroectodermal dysplasia, CHIME type; Neuroectodermal syndrome, Zunich type; PIGL-CDG; Zunich-Kaye syndrome (ORPHA:3474)
Association type: UNKNOWN
Gene: TMEM126A
Disease: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY (OMIM:612989)
Association type: MENDELIAN
Gene: TMEM126A
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TMEM126A
Disease: Autosomal recessive optic atrophy, OPA7 type (ORPHA:227976)
Association type: UNKNOWN
Gene: RNASEH2C
Disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Association type: MENDELIAN
Gene: RNASEH2C
Disease: Aicardi-Goutières syndrome; Encephalopathy with basal ganglia calcification; Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid (ORPHA:51)
Association type: UNKNOWN
Gene: KITLG
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7 (OMIM:611664)
Association type: MENDELIAN
Gene: KITLG
Disease: HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE (OMIM:145250)
Association type: MENDELIAN
Gene: KITLG
Disease: DEAFNESS, AUTOSOMAL DOMINANT 69 (OMIM:616697)
Association type: MENDELIAN
Gene: KITLG
Disease: WAARDENBURG SYNDROME, TYPE 2F (OMIM:619947)
Association type: MENDELIAN
Gene: KITLG
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: KITLG
Disease: Waardenburg syndrome type 2; WS2; Waardenburg syndrome type II (ORPHA:895)
Association type: UNKNOWN
Gene: KITLG
Disease: Non-seminomatous germ cell tumor of testis; Non-dysgerminomatous germ cell tumor of testis; Testicular non seminomatous germ cell tumor; Testicular non-dysgerminomatous germ cell tumor (ORPHA:363494)
Association type: UNKNOWN
Gene: KITLG
Disease: Familial progressive hyper- and hypopigmentation; FPHH (ORPHA:280628)
Association type: UNKNOWN