TaoMedAI/RareMedData huggingface dataset:
Gene: ESCO2
Disease: Juberg-Hayward syndrome; Cleft lip/palate-abnormal thumbs-microcephaly syndrome; Orocraniodigital syndrome (ORPHA:2319)
Association type: UNKNOWN
Gene: NUP62
Disease: STRIATONIGRAL DEGENERATION, INFANTILE (OMIM:271930)
Association type: MENDELIAN
Gene: NUP62
Disease: Familial infantile bilateral striatal necrosis; Familial IBSN; Familial infantile striatonigral degeneration; Familial infantile striatonigral necrosis (ORPHA:225154)
Association type: UNKNOWN
Gene: EIF4A3
Disease: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES (OMIM:268305)
Association type: MENDELIAN
Gene: EIF4A3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EIF4A3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EIF4A3
Disease: Richieri Costa-Pereira syndrome; Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome; Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome (ORPHA:3102)
Association type: UNKNOWN
Gene: PIGM
Disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1 (OMIM:610293)
Association type: MENDELIAN
Gene: PIGM
Disease: Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency; Congenital disorder of glycosylation due to PIGM deficiency; PIGM-CDG (ORPHA:83639)
Association type: UNKNOWN
Gene: HTRA2
Disease: PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
Association type: POLYGENIC
Gene: HTRA2
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII (OMIM:617248)
Association type: MENDELIAN
Gene: HTRA2
Disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Association type: UNKNOWN
Gene: HTRA2
Disease: 3-methylglutaconic aciduria type 8; MGA8 (ORPHA:505208)
Association type: UNKNOWN
Gene: TUBB4A
Disease: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (OMIM:128101)
Association type: MENDELIAN
Gene: TUBB4A
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 6 (OMIM:612438)
Association type: MENDELIAN
Gene: TUBB4A
Disease: Hypomyelination with atrophy of basal ganglia and cerebellum; H-ABC (ORPHA:139441)
Association type: UNKNOWN
Gene: TUBB4A
Disease: Primary dystonia, DYT4 type; DYT4; Hereditary whispering dysphonia (ORPHA:98805)
Association type: UNKNOWN
Gene: TOR1A
Disease: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT (OMIM:128100)
Association type: MENDELIAN
Gene: TOR1A
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 (OMIM:618947)
Association type: MENDELIAN
Gene: TOR1A
Disease: Early-onset generalized limb-onset dystonia; Dystonia musculorum deformans; EOTD; Early-onset generalized torsion dystonia; Early-onset isolated dystonia; Early-onset primary dystonia; Early-onset torsion dystonia; Idiopathic torsion dystonia; Oppenheim dystonia (ORPHA:256)
Association type: UNKNOWN
Gene: TOR1A
Disease: Myoclonus-dystonia syndrome; Alcohol-responsive dystonia; Hereditary essential myoclonus; Myoclonic dystonia (ORPHA:36899)
Association type: UNKNOWN
Gene: DLD
Disease: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (OMIM:246900)
Association type: MENDELIAN
Gene: DLD
Disease: Pyruvate dehydrogenase E3 deficiency; DLD deficiency; Dihydrolipoamide dehydrogenase deficiency; E3-deficient maple syrup urine disease (ORPHA:2394)
Association type: UNKNOWN
Gene: NKX2-1
Disease: CHOREA, BENIGN HEREDITARY (OMIM:118700)
Association type: MENDELIAN
Gene: NKX2-1
Disease: THYROID CANCER, NONMEDULLARY, 1 (OMIM:188550)
Association type: POLYGENIC
Gene: NKX2-1
Disease: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION (OMIM:610978)
Association type: MENDELIAN
Gene: NKX2-1
Disease: Benign hereditary chorea; BHC; Benign familial chorea (ORPHA:1429)
Association type: UNKNOWN
Gene: NKX2-1
Disease: Brain-lung-thyroid syndrome; Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome (ORPHA:209905)
Association type: UNKNOWN
Gene: NKX2-1
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: NKX2-1
Disease: Athyreosis (ORPHA:95713)
Association type: UNKNOWN
Gene: SCARF2
Disease: VAN DEN ENDE-GUPTA SYNDROME (OMIM:600920)
Association type: MENDELIAN
Gene: SCARF2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SCARF2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SCARF2
Disease: Van den Ende-Gupta syndrome; Marden-Walker-like syndrome; VDEGS (ORPHA:2460)
Association type: UNKNOWN
Gene: ANK2
Disease: CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED (OMIM:600919)
Association type: MENDELIAN
Gene: ANK2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: ANK2
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: HYOU1
Disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Association type: MENDELIAN
Gene: ADAMTS13
Disease: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY (OMIM:274150)
Association type: MENDELIAN
Gene: ADAMTS13
Disease: Congenital thrombotic thrombocytopenic purpura; Congenital ADAMTS-13 deficiency; Congenital TTP; Familial TTP; Upshaw-Schulman syndrome (ORPHA:93583)
Association type: UNKNOWN
Gene: SARS1
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES (OMIM:617709)
Association type: MENDELIAN
Gene: SARS1
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: SARS1
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: TEX14
Disease: SPERMATOGENIC FAILURE 23 (OMIM:617707)
Association type: MENDELIAN
Gene: TEX14
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: MEIOB
Disease: SPERMATOGENIC FAILURE 22 (OMIM:617706)
Association type: MENDELIAN
Gene: MEIOB
Disease: PREMATURE OVARIAN FAILURE 23 (OMIM:620686)
Association type: MENDELIAN
Gene: MEIOB
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: ZP3
Disease: OOCYTE MATURATION DEFECT 3 (OMIM:617712)
Association type: MENDELIAN
Gene: ZP3
Disease: Female infertility due to zona pellucida defect (ORPHA:404466)
Association type: UNKNOWN
Gene: PPP3CA
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 (OMIM:617711)
Association type: MENDELIAN
Gene: PPP3CA
Disease: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618265)
Association type: MENDELIAN
Gene: PPP3CA
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: PPP3CA
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: PPP3CA
Disease: Craniosynostosis-microretrognathia-severe intellectual disability syndrome (ORPHA:565858)
Association type: UNKNOWN
Gene: WARS2
Disease: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES (OMIM:617710)
Association type: MENDELIAN
Gene: WARS2
Disease: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET (OMIM:619738)
Association type: MENDELIAN
Gene: WARS2
Disease: WARS2-related combined oxidative phosphorylation defect; Mitochondrial tryptophanyl-tRNA synthetase deficiency (ORPHA:572798)
Association type: UNKNOWN
Gene: C1QBP
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 (OMIM:617713)
Association type: MENDELIAN
Gene: CANT1
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 7 (OMIM:617719)
Association type: MENDELIAN
Gene: CANT1
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: CANT1
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: CANT1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CANT1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CANT1
Disease: DESBUQUOIS DYSPLASIA 1 (OMIM:251450)
Association type: MENDELIAN
Gene: CANT1
Disease: Multiple epiphyseal dysplasia type 7; CANT1-related multiple epiphyseal dysplasia; EDM7; MED7 (ORPHA:647676)
Association type: UNKNOWN
Gene: CANT1
Disease: Desbuquois syndrome; DBQD; Desbuquois dysplasia (ORPHA:1425)
Association type: UNKNOWN
Gene: ARPC1B
Disease: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA (OMIM:617718)
Association type: MENDELIAN
Gene: FDXR
Disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY (OMIM:617717)
Association type: MENDELIAN
Gene: FDXR
Disease:  (OMIM:620887)
Association type: MENDELIAN
Gene: FDXR
Disease: Auditory neuropathy-optic atrophy syndrome (ORPHA:542585)
Association type: UNKNOWN
Gene: FDXR
Disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Association type: UNKNOWN
Gene: FANCE
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Association type: MENDELIAN
Gene: FANCE
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Association type: MENDELIAN
Gene: FANCE
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: WARS1
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX (OMIM:617721)
Association type: MENDELIAN
Gene: WARS1
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES (OMIM:620317)
Association type: MENDELIAN
Gene: WARS1
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: WARS1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: OSGEP
Disease: GALLOWAY-MOWAT SYNDROME 3 (OMIM:617729)
Association type: MENDELIAN
Gene: OSGEP
Disease: Galloway-Mowat syndrome; Galloway syndrome; Microcephaly-hiatus hernia-nephrotic syndrome; Nephrosis-neuronal dysmigration syndrome (ORPHA:2065)
Association type: UNKNOWN
Gene: ELN
Disease: SUPRAVALVULAR AORTIC STENOSIS (OMIM:185500)
Association type: MENDELIAN
Gene: ELN
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 1 (OMIM:123700)
Association type: MENDELIAN
Gene: ELN
Disease: WILLIAMS-BEUREN SYNDROME (OMIM:194050)
Association type: MENDELIAN
Gene: ELN
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: ELN
Disease: Supravalvular aortic stenosis; SVAS (ORPHA:3193)
Association type: UNKNOWN
Gene: ELN
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: ELN
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: ELN
Disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Association type: UNKNOWN
Gene: MPL
Disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL (OMIM:604498)
Association type: MENDELIAN
Gene: MPL
Disease: MYELOFIBROSIS (OMIM:254450)
Association type: MENDELIAN
Gene: MPL
Disease: THROMBOCYTHEMIA 2 (OMIM:601977)
Association type: MENDELIAN
Gene: MPL
Disease: Familial thrombocytosis; Familial thrombocythemia; Hereditary thrombocythemia (ORPHA:71493)
Association type: UNKNOWN
Gene: MPL
Disease: Essential thrombocythemia; ET; Essential thrombocytosis (ORPHA:3318)
Association type: UNKNOWN
Gene: MPL
Disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Association type: UNKNOWN
Gene: MPL
Disease: Primary myelofibrosis; Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Myelofibrosis with myeloid metaplasia; Osteomyelofibrosis (ORPHA:824)
Association type: UNKNOWN
Gene: MPL
Disease: Hereditary isolated aplastic anemia (ORPHA:397692)
Association type: UNKNOWN
Gene: INSR
Disease: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES (OMIM:262190)
Association type: MENDELIAN
Gene: INSR
Disease: DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS (OMIM:610549)
Association type: MENDELIAN
Gene: INSR
Disease: DONOHUE SYNDROME (OMIM:246200)
Association type: MENDELIAN
Gene: INSR
Disease: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5 (OMIM:609968)
Association type: MENDELIAN
Gene: INSR
Disease: Hyperinsulinism due to INSR deficiency; Hyperinsulinemic hypoglycemia due to INSR deficiency; Hyperinsulinemic hypoglycemia due to insulin receptor deficiency (ORPHA:263458)
Association type: UNKNOWN
Gene: INSR
Disease: Rabson-Mendenhall syndrome (ORPHA:769)
Association type: UNKNOWN
Gene: INSR
Disease: Leprechaunism; Donohue syndrome (ORPHA:508)
Association type: UNKNOWN
Gene: INSR
Disease: Insulin-resistance syndrome type A (ORPHA:2297)
Association type: UNKNOWN
Gene: FRA16E
Disease: CHROMOSOME 16p12.1 DELETION SYNDROME, 520-KB (OMIM:136570)
Association type: MENDELIAN
Gene: TP53RK
Disease: GALLOWAY-MOWAT SYNDROME 4 (OMIM:617730)
Association type: MENDELIAN
Gene: TP53RK
Disease: Galloway-Mowat syndrome; Galloway syndrome; Microcephaly-hiatus hernia-nephrotic syndrome; Nephrosis-neuronal dysmigration syndrome (ORPHA:2065)
Association type: UNKNOWN
Gene: SASS6
Disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616402)
Association type: MENDELIAN
Gene: SASS6
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: TUBB6
Disease: FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION (OMIM:617732)
Association type: MENDELIAN
Gene: TPRKB
Disease: GALLOWAY-MOWAT SYNDROME 5 (OMIM:617731)
Association type: MENDELIAN
Gene: TPRKB
Disease: Galloway-Mowat syndrome; Galloway syndrome; Microcephaly-hiatus hernia-nephrotic syndrome; Nephrosis-neuronal dysmigration syndrome (ORPHA:2065)
Association type: UNKNOWN
Gene: TRPV3
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2 (OMIM:616400)
Association type: MENDELIAN
Gene: TRPV3
Disease: OLMSTED SYNDROME 1 (OMIM:614594)
Association type: MENDELIAN
Gene: TRPV3
Disease: Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Olmsted syndrome; Palmoplantar and periorificial keratoderma (ORPHA:659)
Association type: UNKNOWN
Gene: TRPV3
Disease: Isolated focal non-epidermolytic palmoplantar keratoderma (ORPHA:448264)
Association type: UNKNOWN
Gene: GAA
Disease: GLYCOGEN STORAGE DISEASE II (OMIM:232300)
Association type: MENDELIAN
Gene: GAA
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset; Alpha-1,4-glucosidase acid deficiency, infantile onset; GSD due to acid maltase deficiency, infantile onset; GSD type 2, infantile onset; GSD type II, infantile onset; Glycogen storage disease type 2, infantile onset; Glycogen storage disease type II, infantile onset; Glycogenosis due to acid maltase deficiency, infantile onset; Glycogenosis type 2, infantile onset; Glycogenosis type II, infantile onset; Pompe disease, infantile onset (ORPHA:308552)
Association type: UNKNOWN
Gene: GAA
Disease: Glycogen storage disease due to acid maltase deficiency, late-onset; Alpha-1,4-glucosidase acid deficiency, late-onset; GSD due to acid maltase deficiency, late-onset; GSD type 2, late-onset; GSD type II, late-onset; Glycogen storage disease type 2, late-onset; Glycogen storage disease type II, late-onset; Glycogenosis type 2, late-onset; Glycogenosis type II, late-onset; Pompe disease, late-onset (ORPHA:420429)
Association type: UNKNOWN
Gene: EEF1A2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 33 (OMIM:616409)
Association type: MENDELIAN
Gene: EEF1A2
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 (OMIM:616393)
Association type: MENDELIAN
Gene: EEF1A2
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: EEF1A2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: GJA1
Disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 (OMIM:104100)
Association type: MENDELIAN
Gene: GJA1
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:218400)
Association type: MENDELIAN
Gene: GJA1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: GJA1
Disease: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE (OMIM:257850)
Association type: MENDELIAN
Gene: GJA1
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 (OMIM:617525)
Association type: MENDELIAN
Gene: GJA1
Disease: OCULODENTODIGITAL DYSPLASIA (OMIM:164200)
Association type: MENDELIAN
Gene: GJA1
Disease: SYNDACTYLY, TYPE III (OMIM:186100)
Association type: MENDELIAN
Gene: GJA1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GJA1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GJA1
Disease: Oculodentodigital dysplasia; Meyer-Schwickerath syndrome; Meyer-Schwickerath-Weyers syndrome; ODDD syndrome; ODOD syndrome; Oculo-dento-digital dysplasia; Oculodentodigital syndrome; Oculodentodigitalis dysplasia; Oculodentoosseous dysplasia; Osseous-oculo-dental dysplasia (ORPHA:2710)
Association type: UNKNOWN
Gene: GJA1
Disease: Erythrokeratodermia variabilis; EKV; Erythrokeratodermia variabilis, Mendes da Costa type (ORPHA:317)
Association type: UNKNOWN
Gene: GJA1
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: GJA1
Disease: Craniometaphyseal dysplasia (ORPHA:1522)
Association type: UNKNOWN
Gene: GJA1
Disease: Autosomal dominant palmoplantar keratoderma and congenital alopecia; Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; PPK-CA, Stevanovic type; Palmoplantar keratoderma and congenital alopecia, Stevanovic type (ORPHA:1010)
Association type: UNKNOWN
Gene: GJA1
Disease: Syndactyly type 3; SD3; Syndactyly of fingers 4 and 5 (ORPHA:93404)
Association type: UNKNOWN
Gene: GJA1
Disease: Hypoplastic left heart syndrome; HLHS (ORPHA:2248)
Association type: UNKNOWN
Gene: TRPC3
Disease: SPINOCEREBELLAR ATAXIA 41 (OMIM:616410)
Association type: MENDELIAN
Gene: TRPC3
Disease: Spinocerebellar ataxia type 41; SCA41 (ORPHA:458798)
Association type: UNKNOWN
Gene: COPA
Disease: AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE (OMIM:616414)
Association type: POLYGENIC
Gene: COPA
Disease: Autoimmune interstitial lung disease-arthritis syndrome; COPA syndrome (ORPHA:444092)
Association type: UNKNOWN
Gene: NFE2L2
Disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA (OMIM:617744)
Association type: MENDELIAN
Gene: NFE2L2
Disease: Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome (ORPHA:619979)
Association type: UNKNOWN
Gene: XPR1
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6 (OMIM:616413)
Association type: MENDELIAN
Gene: XPR1
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Association type: MENDELIAN
Gene: XPR1
Disease: Bilateral striopallidodentate calcinosis; BSPDC; Cerebrovascular ferrocalcinosis; Idiopathic basal ganglia calcification; PFBC; Primary familial brain calcification (ORPHA:1980)
Association type: UNKNOWN
Gene: PATL2
Disease: OOCYTE MATURATION DEFECT 4 (OMIM:617743)
Association type: MENDELIAN
Gene: PATL2
Disease: Female infertility due to oocyte meiotic arrest (ORPHA:488191)
Association type: UNKNOWN
Gene: COL6A3
Disease: DYSTONIA 27 (OMIM:616411)
Association type: MENDELIAN
Gene: COL6A3
Disease: BETHLEM MYOPATHY 1C (OMIM:620726)
Association type: MENDELIAN
Gene: COL6A3
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1C (OMIM:620728)
Association type: MENDELIAN
Gene: COL6A3
Disease: Ullrich congenital muscular dystrophy; UCMD; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Association type: UNKNOWN
Gene: COL6A3
Disease: Primary dystonia, DYT27 type (ORPHA:464440)
Association type: UNKNOWN
Gene: COL6A3
Disease: Bethlem muscular dystrophy; Bethlem myopathy; LGMD D5 collagen 6-related dystrophy; LGMD D5 collagen VI-related dystrophy; LGMD R22 collagen 6-related dystrophy; LGMD R22 collagen VI-related dystrophy; Mild form of COL6-related dystrophy; Mild form of collagen VI-related dystrophy (ORPHA:610)
Association type: UNKNOWN
Gene: COL6A3
Disease: Intermediate collagen VI-related muscular dystrophy; Intermediate COL6-RD (ORPHA:646113)
Association type: UNKNOWN
Gene: ACTN3
Disease: ACTN3 DEFICIENCY (OMIM:617749)
Association type: MENDELIAN
Gene: CNNM2
Disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 1 (OMIM:616418)
Association type: MENDELIAN
Gene: CNNM2
Disease: HYPOMAGNESEMIA 6, RENAL (OMIM:613882)
Association type: MENDELIAN
Gene: CNNM2
Disease: Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome (ORPHA:620363)
Association type: UNKNOWN
Gene: TFG
Disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Association type: MENDELIAN
Gene: TFG
Disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Association type: MENDELIAN
Gene: TFG
Disease: Extraskeletal myxoid chondrosarcoma (ORPHA:209916)
Association type: UNKNOWN
Gene: TFG
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: TFG
Disease: Hereditary motor and sensory neuropathy, Okinawa type; HMSNP; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Association type: UNKNOWN
Gene: TFG
Disease: Autosomal recessive spastic paraplegia type 57; SPG57; Spastic paraplegia due to partial TFG deficiency (ORPHA:431329)
Association type: UNKNOWN
Gene: TFG
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation; CMT2 due to TFG mutation (ORPHA:435819)
Association type: UNKNOWN
Gene: ALG6
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic (OMIM:603147)
Association type: MENDELIAN
Gene: ALG6
Disease: ALG6-CDG; CDG syndrome type Ic; CDG-Ic; CDG1C; Carbohydrate deficient glycoprotein syndrome type Ic; Congenital disorder of glycosylation type 1c; Congenital disorder of glycosylation type Ic; Glucosyltransferase 1 deficiency (ORPHA:79320)
Association type: UNKNOWN
Gene: TRIP12
Disease: CLARK-BARAITSER SYNDROME (OMIM:617752)
Association type: MENDELIAN
Gene: TRIP12
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: SLC6A1
Disease: MYOCLONIC-ATONIC EPILEPSY (OMIM:616421)
Association type: MENDELIAN
Gene: SLC6A1
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: SLC6A1
Disease: Myoclonic-astatic epilepsy; Doose syndrome; EMAS; Epilepsy with myoclonic-astatic seizures; Epilepsy with myoclonic-atonic seizures; MAE; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy in early childhood (ORPHA:1942)
Association type: UNKNOWN
Gene: RAC1
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 48 (OMIM:617751)
Association type: MENDELIAN
Gene: RAC1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: RAC1
Disease: Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom (ORPHA:500159)
Association type: UNKNOWN
Gene: PYCR2
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 10 (OMIM:616420)
Association type: MENDELIAN
Gene: PYCR2
Disease: PYCR2-related microcephaly-progressive leukoencephalopathy (ORPHA:481152)
Association type: UNKNOWN