TaoMedAI/RareMedData huggingface dataset:
Gene: SLC26A4
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: SLC26A4
Disease: Thyroid hypoplasia (ORPHA:95720)
Association type: UNKNOWN
Gene: SLC26A4
Disease: Athyreosis (ORPHA:95713)
Association type: UNKNOWN
Gene: SLC26A4
Disease: Pendred syndrome; Goiter-deafness syndrome; Goiter-hearing loss syndrome (ORPHA:705)
Association type: UNKNOWN
Gene: DIAPH3
Disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1 (OMIM:609129)
Association type: MENDELIAN
Gene: DIAPH3
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: CHMP2B
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Association type: MENDELIAN
Gene: CHMP2B
Disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Association type: UNKNOWN
Gene: CHMP2B
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: CHMP2B
Disease: Progressive non-fluent aphasia; Agramatic variant of PPA; Agramatic variant of primary progressive aphasia; Non-fluent variant PPA (ORPHA:100070)
Association type: UNKNOWN
Gene: CHMP2B
Disease: Semantic dementia; Semantic primary progressive aphasia; Semantic variant PPA (ORPHA:100069)
Association type: UNKNOWN
Gene: SERPINA7
Disease: THYROXINE-BINDING GLOBULIN QUANTITATIVE TRAIT LOCUS (OMIM:300932)
Association type: MENDELIAN
Gene: SSR4
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy (OMIM:300934)
Association type: MENDELIAN
Gene: SSR4
Disease: SSR4-CDG; CDG syndrome type Iy; CDG-Iy; CDG1Y; Carbohydrate deficient glycoprotein syndrome type Iy; Congenital disorder of glycosylation type 1y; Congenital disorder of glycosylation type Iy (ORPHA:370927)
Association type: UNKNOWN
Gene: MAF
Disease: CATARACT 21, MULTIPLE TYPES (OMIM:610202)
Association type: MENDELIAN
Gene: MAF
Disease: AYME-GRIPP SYNDROME (OMIM:601088)
Association type: MENDELIAN
Gene: MAF
Disease: Aymé-Gripp syndrome; Brachycephaly-deafness-cataract-intellectual disability syndrome; Brachycephaly-hearing loss-cataract-intellectual disability syndrome; Fine-Lubinsky syndrome (ORPHA:1272)
Association type: UNKNOWN
Gene: MAF
Disease: Cataract-microcornea syndrome (ORPHA:1377)
Association type: UNKNOWN
Gene: MAF
Disease: Cerulean cataract; Blue-dot cataract (ORPHA:98989)
Association type: UNKNOWN
Gene: MAF
Disease: Pulverulent cataract; Coppock-like cataract; Dusty cataract (ORPHA:98984)
Association type: UNKNOWN
Gene: MID2
Disease: MENTAL RETARDATION, X-LINKED 101 (OMIM:300928)
Association type: MENDELIAN
Gene: MID2
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: TSEN54
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 5 (OMIM:610204)
Association type: MENDELIAN
Gene: TSEN54
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
Association type: MENDELIAN
Gene: TSEN54
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2A (OMIM:277470)
Association type: MENDELIAN
Gene: TSEN54
Disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Association type: UNKNOWN
Gene: TSEN54
Disease: Pontocerebellar hypoplasia type 4; Fatal infantile encephalopathy with olivopontocerebellar hypoplasia; Olivopontocerebellar hypoplasia; PCH4 (ORPHA:166063)
Association type: UNKNOWN
Gene: CBS
Disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Association type: MENDELIAN
Gene: CBS
Disease: MARFAN SYNDROME (OMIM:154700)
Association type: MENDELIAN
Gene: CBS
Disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Association type: MENDELIAN
Gene: CBS
Disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Association type: MENDELIAN
Gene: CBS
Disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Association type: MENDELIAN
Gene: CBS
Disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Association type: MENDELIAN
Gene: CBS
Disease: Homocystinuria due to cystathionine beta-synthase deficiency; CBS-deficient HCU; Classical homocystinuria; Cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency (ORPHA:394)
Association type: UNKNOWN
Gene: NOTCH2
Disease: ALAGILLE SYNDROME 2 (OMIM:610205)
Association type: MENDELIAN
Gene: NOTCH2
Disease: HAJDU-CHENEY SYNDROME (OMIM:102500)
Association type: MENDELIAN
Gene: NOTCH2
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: NOTCH2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NOTCH2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NOTCH2
Disease: Alagille syndrome due to a NOTCH2 point mutation; Alagille-Watson syndrome due to a NOTCH2 point mutation; Arteriohepatic dysplasia due to a NOTCH2 point mutation; Syndromic bile duct paucity due to a NOTCH2 point mutation (ORPHA:261629)
Association type: UNKNOWN
Gene: NOTCH2
Disease: Hajdu-Cheney syndrome; Acroosteolysis dominant type; Acroosteolysis with osteoporosis and changes in skull and mandible; Arthrodentoosteodysplasia; Cheney syndrome (ORPHA:955)
Association type: UNKNOWN
Gene: PLP1
Disease: SPASTIC PARAPLEGIA 2, X-LINKED (OMIM:312920)
Association type: MENDELIAN
Gene: PLP1
Disease: PELIZAEUS-MERZBACHER DISEASE (OMIM:312080)
Association type: MENDELIAN
Gene: PLP1
Disease: Spastic paraplegia type 2; SPG2; Spastic gait type 2; Spastic paraparesis type 2; X-linked spastic paraplegia type 2 (ORPHA:99015)
Association type: UNKNOWN
Gene: PLP1
Disease: Pelizaeus-Merzbacher disease, connatal form; Connatal PMD; Pelizaeus-Merzbacher disease type II; Severe PMD (ORPHA:280210)
Association type: UNKNOWN
Gene: PLP1
Disease: Pelizaeus-Merzbacher disease, transitional form; Transitional PMD (ORPHA:280224)
Association type: UNKNOWN
Gene: PLP1
Disease: Pelizaeus-Merzbacher disease, classic form; Classic PMD (ORPHA:280219)
Association type: UNKNOWN
Gene: PLP1
Disease: Null syndrome; PLP1 null syndrome; Pelizaeus-Merzbacher disease, null syndrome (ORPHA:280234)
Association type: UNKNOWN
Gene: PLP1
Disease: Pelizaeus-Merzbacher disease in female carriers (ORPHA:280229)
Association type: UNKNOWN
Gene: PLP1
Disease: Hypomyelination of early myelinating structures; HEMS (ORPHA:599376)
Association type: UNKNOWN
Gene: GPR101
Disease: PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING (OMIM:300943)
Association type: MENDELIAN
Gene: GPR101
Disease: CHROMOSOME Xq26.3 DUPLICATION SYNDROME (OMIM:300942)
Association type: MENDELIAN
Gene: GPR101
Disease: Acromegaly (ORPHA:963)
Association type: UNKNOWN
Gene: TSR2
Disease: DIAMOND-BLACKFAN ANEMIA 14 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:300946)
Association type: MENDELIAN
Gene: TSR2
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: AMPD3
Disease: ERYTHROCYTE AMP DEAMINASE DEFICIENCY (OMIM:612874)
Association type: MENDELIAN
Gene: AMPD3
Disease: Adenosine monophosphate deaminase deficiency; AMP deaminase deficiency; Myoadenylate deaminase deficiency (ORPHA:45)
Association type: UNKNOWN
Gene: MMP19
Disease: CAVITARY OPTIC DISC ANOMALIES (OMIM:611543)
Association type: MENDELIAN
Gene: MMP19
Disease: Familial cavitary optic disc anomaly; Familial CODA (ORPHA:464760)
Association type: UNKNOWN
Gene: DCDC2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 66 (OMIM:610212)
Association type: MENDELIAN
Gene: DCDC2
Disease: NEPHRONOPHTHISIS 19 (OMIM:616217)
Association type: MENDELIAN
Gene: DCDC2
Disease: SCLEROSING CHOLANGITIS, NEONATAL (OMIM:617394)
Association type: MENDELIAN
Gene: DCDC2
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: DCDC2
Disease: Isolated neonatal sclerosing cholangitis (ORPHA:480556)
Association type: UNKNOWN
Gene: DCDC2
Disease: Senior-Boichis syndrome; Boichis disease; Nephronophthisis-hepatic fibrosis syndrome (ORPHA:84081)
Association type: UNKNOWN
Gene: SLC12A3
Disease: GITELMAN SYNDROME (OMIM:263800)
Association type: MENDELIAN
Gene: SLC12A3
Disease: Gitelman syndrome (ORPHA:358)
Association type: UNKNOWN
Gene: CRYBB1
Disease: CATARACT 17, MULTIPLE TYPES (OMIM:611544)
Association type: MENDELIAN
Gene: CRYBB1
Disease: Cataract-microcornea syndrome (ORPHA:1377)
Association type: UNKNOWN
Gene: CRYBB1
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: CRYBB1
Disease: Pulverulent cataract; Coppock-like cataract; Dusty cataract (ORPHA:98984)
Association type: UNKNOWN
Gene: DSG2
Disease: CARDIOMYOPATHY, DILATED, 1BB (OMIM:612877)
Association type: MENDELIAN
Gene: DSG2
Disease: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10 (OMIM:610193)
Association type: MENDELIAN
Gene: DSG2
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: DSG2
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant; ALVC; Arrhythmogenic cardiomyopathy dominant-left variant; Arrhythmogenic cardiomyopathy with left ventricular involvement; Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form (ORPHA:293888)
Association type: UNKNOWN
Gene: DSG2
Disease: Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant; Familial isolated arrhythmogenic ventricular dysplasia, biventricular form (ORPHA:293899)
Association type: UNKNOWN
Gene: DSG2
Disease: Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant; Familial isolated arrhytmogenic ventricular dysplasia, right dominant form (ORPHA:293910)
Association type: UNKNOWN
Gene: NOBOX
Disease: PREMATURE OVARIAN FAILURE 5 (OMIM:611548)
Association type: MENDELIAN
Gene: HNRNPDL
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3 (OMIM:609115)
Association type: MENDELIAN
Gene: HNRNPDL
Disease: HNRNPDL-related limb-girdle muscular dystrophy D3; Autosomal dominant limb-girdle muscular dystrophy type 1G; HNRNPDL-related LGMD D3; LGMD type 1G; LGMD1G; Limb-girdle muscular dystrophy type 1G (ORPHA:55596)
Association type: UNKNOWN
Gene: SPRED1
Disease: LEGIUS SYNDROME (OMIM:611431)
Association type: MENDELIAN
Gene: SPRED1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: SPRED1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SPRED1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SPRED1
Disease: Legius syndrome; NF1-like syndrome; Neurofibromatosis 1-like syndrome; Nonmosaic LGSS; Nonmosaic Legius syndrome (ORPHA:137605)
Association type: UNKNOWN
Gene: DCAF8
Disease: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT (OMIM:610100)
Association type: MENDELIAN
Gene: DCAF8
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons; Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons; CMT2 with giant axons; HMSN2 with giant axons (ORPHA:401964)
Association type: UNKNOWN
Gene: BRAF
Disease: CARDIOFACIOCUTANEOUS SYNDROME 1 (OMIM:115150)
Association type: MENDELIAN
Gene: BRAF
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: BRAF
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: BRAF
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: BRAF
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: BRAF
Disease: LUNG CANCER (OMIM:211980)
Association type: MENDELIAN
Gene: BRAF
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: BRAF
Disease: LEOPARD SYNDROME 3 (OMIM:613707)
Association type: MENDELIAN
Gene: BRAF
Disease: NOONAN SYNDROME 7 (OMIM:613706)
Association type: MENDELIAN
Gene: BRAF
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1 (OMIM:155600)
Association type: MENDELIAN
Gene: BRAF
Disease: NOONAN SYNDROME 1 (OMIM:163950)
Association type: MENDELIAN
Gene: BRAF
Disease: Langerhans cell histiocytosis; Histiocytosis X; Langerhans cell granulomatosis (ORPHA:389)
Association type: UNKNOWN
Gene: BRAF
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: BRAF
Disease: Cushing disease; Corticotroph pituitary adenoma; Pituitary corticotroph micro-adenoma; Pituitary-dependent Cushing syndrome (ORPHA:96253)
Association type: UNKNOWN
Gene: BRAF
Disease: Cardiofaciocutaneous syndrome; CFC syndrome (ORPHA:1340)
Association type: UNKNOWN
Gene: BRAF
Disease: Craniopharyngioma (ORPHA:54595)
Association type: UNKNOWN
Gene: BRAF
Disease: Syringocystadenoma papilliferum; Fistulous vegetative verrucous hydradenoma; Naevus syringocystadenomatosus papilliferus; Papillary syringocystadenoma; SCAP; Syringadenoma papilliferum (ORPHA:840)
Association type: UNKNOWN
Gene: BRAF
Disease: Classic hairy cell leukemia; HCL-C; Leukemic reticuloendotheliosis (ORPHA:58017)
Association type: UNKNOWN
Gene: BRAF
Disease: Large/giant congenital melanocytic nevus; LGCMN; Large/giant CMN syndrome; Large/giant congenital pigmented nevus (ORPHA:626)
Association type: UNKNOWN
Gene: BRAF
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: BRAF
Disease: Noonan syndrome with multiple lentigines; Cardiomyopathic lentiginosis; Familial multiple lentigines syndrome; LEOPARD syndrome (ORPHA:500)
Association type: UNKNOWN
Gene: BRAF
Disease: Pilomyxoid astrocytoma (ORPHA:251615)
Association type: UNKNOWN
Gene: C7
Disease: COMPLEMENT COMPONENT 7 DEFICIENCY (OMIM:610102)
Association type: MENDELIAN
Gene: C7
Disease: Immunodeficiency due to a late component of complement deficiency; Immunodeficiency due to C5 to C9 component complement deficiency; Terminal complement pathway deficiency (ORPHA:169150)
Association type: UNKNOWN
Gene: MLPH
Disease: GRISCELLI SYNDROME, TYPE 3 (OMIM:609227)
Association type: MENDELIAN
Gene: MLPH
Disease: Griscelli syndrome type 3; Griscelli-Pruniéras syndrome type 3 (ORPHA:79478)
Association type: UNKNOWN
Gene: PLOD2
Disease: BRUCK SYNDROME 2 (OMIM:609220)
Association type: MENDELIAN
Gene: PLOD2
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: PLOD2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PLOD2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PLOD2
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: PLOD2
Disease: Bruck syndrome; Osteogenesis imperfecta-congenital joint contractures syndrome (ORPHA:2771)
Association type: UNKNOWN
Gene: CRYBA1
Disease: CATARACT 10, MULTIPLE TYPES (OMIM:600881)
Association type: MENDELIAN
Gene: CRYBA1
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: CRYBA1
Disease: Early-onset posterior polar cataract (ORPHA:98993)
Association type: UNKNOWN
Gene: CRYBA1
Disease: Early-onset sutural cataract; Early-onset cataract with Y-shaped suture opacities (ORPHA:98985)
Association type: UNKNOWN
Gene: CRYBA1
Disease: Early-onset lamellar cataract (ORPHA:441452)
Association type: UNKNOWN
Gene: RAB7A
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (OMIM:600882)
Association type: MENDELIAN
Gene: RAB7A
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2B; CMT2B (ORPHA:99936)
Association type: UNKNOWN
Gene: JAK2
Disease: BUDD-CHIARI SYNDROME (OMIM:600880)
Association type: POLYGENIC
Gene: JAK2
Disease: ERYTHROCYTOSIS, FAMILIAL, 1 (OMIM:133100)
Association type: MENDELIAN
Gene: JAK2
Disease: MYELOFIBROSIS (OMIM:254450)
Association type: MENDELIAN
Gene: JAK2
Disease: THROMBOCYTHEMIA 3 (OMIM:614521)
Association type: MENDELIAN
Gene: JAK2
Disease: POLYCYTHEMIA VERA (OMIM:263300)
Association type: MENDELIAN
Gene: JAK2
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: MENDELIAN
Gene: JAK2
Disease: Familial thrombocytosis; Familial thrombocythemia; Hereditary thrombocythemia (ORPHA:71493)
Association type: UNKNOWN
Gene: JAK2
Disease: Essential thrombocythemia; ET; Essential thrombocytosis (ORPHA:3318)
Association type: UNKNOWN
Gene: JAK2
Disease: Budd-Chiari syndrome; BCS (ORPHA:131)
Association type: UNKNOWN
Gene: JAK2
Disease: Breast implant-associated anaplastic large cell lymphoma; Breast implant-associated ALCL; Seroma-associated ALCL (ORPHA:667662)
Association type: UNKNOWN
Gene: JAK2
Disease: Primary myelofibrosis; Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Myelofibrosis with myeloid metaplasia; Osteomyelofibrosis (ORPHA:824)
Association type: UNKNOWN
Gene: JAK2
Disease: Polycythemia vera; Acquired primary erythrocytosis; Osler-Vaquez disease; PV; Polycythemia rubra vera; Vaquez disease (ORPHA:729)
Association type: UNKNOWN
Gene: FTL
Disease: HYPERFERRITINEMIA WITH OR WITHOUT CATARACT (OMIM:600886)
Association type: MENDELIAN
Gene: FTL
Disease: L-FERRITIN DEFICIENCY (OMIM:615604)
Association type: MENDELIAN
Gene: FTL
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3 (OMIM:606159)
Association type: MENDELIAN
Gene: FTL
Disease: Hereditary hyperferritinemia-cataract syndrome; HHCS; Hereditary hyperferritinemia with cataracts; Hereditary hyperferritinemia-cataract disease (ORPHA:163)
Association type: UNKNOWN
Gene: FTL
Disease: L-ferritin deficiency (ORPHA:440731)
Association type: UNKNOWN
Gene: FTL
Disease: Neuroferritinopathy; Adult basal ganglia disease; Ferritin-related neurodegeneration; Hereditary ferritinopathy (ORPHA:157846)
Association type: UNKNOWN
Gene: FTL
Disease: Genetic hyperferritinemia without iron overload; Benign hyperferritinemia (ORPHA:254704)
Association type: UNKNOWN
Gene: SLC38A8
Disease: FOVEAL HYPOPLASIA 2 (OMIM:609218)
Association type: MENDELIAN
Gene: SLC38A8
Disease: Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome; FHONDA syndrome (ORPHA:397618)
Association type: UNKNOWN
Gene: ADAM9
Disease: CONE-ROD DYSTROPHY 9 (OMIM:612775)
Association type: MENDELIAN
Gene: ADAM9
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ADAM9
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: A2ML1
Disease: OTITIS MEDIA, SUSCEPTIBILITY TO (OMIM:166760)
Association type: POLYGENIC
Gene: ATP6V1B1
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, 2, WITH PROGRESSIVE SENSORINEURAL HEARING LOSS (OMIM:267300)
Association type: MENDELIAN
Gene: ATP6V1B1
Disease: Autosomal recessive distal renal tubular acidosis; AR dRTA; Autosomal recessive distal RTA (ORPHA:402041)
Association type: UNKNOWN
Gene: PLOD3
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: PLOD3
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: PLOD3
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: PLOD3
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: PLOD3
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: PLOD3
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: PLOD3
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: PLOD3
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: PLOD3
Disease: Connective tissue disorder due to lysyl hydroxylase-3 deficiency; Bone fragility-contractures-arterial rupture-deafness syndrome; Bone fragility-contractures-arterial rupture-hearing loss syndrome; Connective tissue disorder due to LH3 deficiency (ORPHA:300284)
Association type: UNKNOWN
Gene: VCAN
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: VCAN
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: VCAN
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: VCAN
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: VCAN
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: VCAN
Disease: Wagner disease; Dominant hyaloideoretinal dystrophy of Wagner; VCAN-related vitreoretinopathy; Vitreoretinal degeneration, Wagner type; Wagner syndrome (ORPHA:898)
Association type: UNKNOWN
Gene: COL9A1
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: COL9A1
Disease: STICKLER SYNDROME, TYPE IV (OMIM:614134)
Association type: MENDELIAN
Gene: COL9A1
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 6 (OMIM:614135)
Association type: MENDELIAN
Gene: COL9A1
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: COL9A1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: COL9A1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: COL9A1
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: COL9A1
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: COL9A1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: COL9A1
Disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Association type: UNKNOWN
Gene: COL9A1
Disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Association type: UNKNOWN
Gene: COL9A2
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: COL9A2
Disease: STICKLER SYNDROME, TYPE V (OMIM:614284)
Association type: MENDELIAN
Gene: COL9A2
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: COL9A2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: COL9A2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: COL9A2
Disease: KNIEST DYSPLASIA (OMIM:156550)
Association type: MENDELIAN
Gene: COL9A2
Disease: WAGNER VITREORETINOPATHY (OMIM:143200)
Association type: MENDELIAN
Gene: COL9A2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: COL9A2
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2 (OMIM:600204)
Association type: MENDELIAN
Gene: COL9A2
Disease: Autosomal recessive Stickler syndrome (ORPHA:250984)
Association type: UNKNOWN
Gene: COL9A2
Disease: Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
Association type: UNKNOWN
Gene: COL11A1
Disease: MARSHALL SYNDROME (OMIM:154780)
Association type: MENDELIAN
Gene: COL11A1
Disease: STICKLER SYNDROME, TYPE II (OMIM:604841)
Association type: MENDELIAN
Gene: COL11A1
Disease: OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:184840)
Association type: MENDELIAN
Gene: COL11A1
Disease: INTERVERTEBRAL DISC DISEASE (OMIM:603932)
Association type: POLYGENIC
Gene: COL11A1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN