TaoMedAI/RareMedData huggingface dataset:
Gene: B4GALT1
Disease: COMBINED LOW LDL AND FIBRINOGEN (OMIM:620364)
Association type: MENDELIAN
Gene: B4GALT1
Disease: B4GALT1-CDG; Beta-1,4-galactosyltransferase deficiency; CDG syndrome type IId; CDG-IId; CDG2D; Carbohydrate deficient glycoprotein syndrome type IId; Congenital disorder of glycosylation type 2d; Congenital disorder of glycosylation type IId (ORPHA:79332)
Association type: UNKNOWN
Gene: MYL11
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1C (OMIM:619110)
Association type: MENDELIAN
Gene: MYL11
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MYL11
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CC2D2A
Disease: COACH SYNDROME 2 (OMIM:619111)
Association type: MENDELIAN
Gene: CC2D2A
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CC2D2A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CC2D2A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CC2D2A
Disease: RETINITIS PIGMENTOSA 93 (OMIM:619845)
Association type: MENDELIAN
Gene: CC2D2A
Disease: JOUBERT SYNDROME 9 (OMIM:612285)
Association type: MENDELIAN
Gene: CC2D2A
Disease: MECKEL SYNDROME, TYPE 6 (OMIM:612284)
Association type: MENDELIAN
Gene: CC2D2A
Disease: Joubert syndrome with hepatic defect; COACH syndrome; Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis; Gentile syndrome; JS-H; Joubert syndrome with congenital hepatic fibrosis (ORPHA:1454)
Association type: UNKNOWN
Gene: CC2D2A
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: CC2D2A
Disease: Joubert syndrome with oculorenal defect; Arima syndrome; CORS; Cerebellooculorenal syndrome; Dekaban-Arima syndrome; JS type B; JS-OR; Joubert syndrome with Senior-Loken syndrome (ORPHA:2318)
Association type: UNKNOWN
Gene: CC2D2A
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: KPNA3
Disease: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT (OMIM:620106)
Association type: MENDELIAN
Gene: KPNA3
Disease: Autosomal dominant spastic paraplegia type 37; SPG37 (ORPHA:171612)
Association type: UNKNOWN
Gene: SCNM1
Disease: OROFACIODIGITAL SYNDROME XIX (OMIM:620107)
Association type: MENDELIAN
Gene: SP6
Disease: AMELOGENESIS IMPERFECTA, TYPE IK (OMIM:620104)
Association type: MENDELIAN
Gene: SP6
Disease: Hypoplastic amelogenesis imperfecta; Amelogenesis imperfecta type 1 (ORPHA:100031)
Association type: UNKNOWN
Gene: DHH
Disease: 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY (OMIM:607080)
Association type: MENDELIAN
Gene: DHH
Disease: 46,XY SEX REVERSAL 7 (OMIM:233420)
Association type: MENDELIAN
Gene: DHH
Disease: 46,XY complete gonadal dysgenesis; 46,XY CGD; 46,XY pure gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Association type: UNKNOWN
Gene: DHH
Disease: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome (ORPHA:168563)
Association type: UNKNOWN
Gene: FKBP6
Disease: SPERMATOGENIC FAILURE 77 (OMIM:620103)
Association type: MENDELIAN
Gene: FKBP6
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: GAD1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Association type: MENDELIAN
Gene: GAD1
Disease: Inherited congenital spastic tetraplegia; Inherited congenital spastic quadriplegia (ORPHA:210141)
Association type: UNKNOWN
Gene: YIF1B
Disease: KAYA-BARAKAT-MASSON SYNDROME (OMIM:619125)
Association type: MENDELIAN
Gene: YIF1B
Disease: Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome; KABAMAS; Kaya-Barakat-Masson syndrome (ORPHA:684240)
Association type: UNKNOWN
Gene: MTX2
Disease: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME (OMIM:619127)
Association type: MENDELIAN
Gene: MTX2
Disease: Mandibuloacral dysplasia associated to MTX2; MADaM; MDPS; Mandibuloacral dysplasia progeroid syndrome (ORPHA:647667)
Association type: UNKNOWN
Gene: TIMP3
Disease: SORSBY FUNDUS DYSTROPHY (OMIM:136900)
Association type: MENDELIAN
Gene: TIMP3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TIMP3
Disease: Sorsby pseudoinflammatory fundus dystrophy (ORPHA:59181)
Association type: UNKNOWN
Gene: SHMT2
Disease: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES (OMIM:619121)
Association type: MENDELIAN
Gene: CDK5RAP2
Disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Association type: MENDELIAN
Gene: CDK5RAP2
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: GDF11
Disease: VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES (OMIM:619122)
Association type: MENDELIAN
Gene: RTN2
Disease: SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (OMIM:604805)
Association type: MENDELIAN
Gene: RTN2
Disease:  (OMIM:620854)
Association type: MENDELIAN
Gene: RTN2
Disease: Autosomal dominant spastic paraplegia type 12; SPG12 (ORPHA:100993)
Association type: UNKNOWN
Gene: CCDC32
Disease: CARDIOFACIONEURODEVELOPMENTAL SYNDROME (OMIM:619123)
Association type: MENDELIAN
Gene: CCDC32
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: LPAR6
Disease: HYPOTRICHOSIS 8 (OMIM:278150)
Association type: MENDELIAN
Gene: LPAR6
Disease: Woolly hair; Familial woolly hair syndrome; Familial wooly hair syndrome; Hereditary woolly hair syndrome; Hereditary wooly hair syndrome; Wooly hair (ORPHA:170)
Association type: UNKNOWN
Gene: LPAR6
Disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Association type: UNKNOWN
Gene: MAST3
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108 (OMIM:620115)
Association type: MENDELIAN
Gene: HSD17B13
Disease: FATTY LIVER DISEASE, PROTECTION FROM (OMIM:620116)
Association type: POLYGENIC
Gene: FRA10AC1
Disease: NEURODEVELOPMENTAL DISORDER WITH GROWTH RETARDATION, DYSMORPHIC FACIES, AND CORPUS CALLOSUM ABNORMALITIES (OMIM:620113)
Association type: MENDELIAN
Gene: LAMTOR2
Disease: IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN (OMIM:610798)
Association type: MENDELIAN
Gene: LAMTOR2
Disease: Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency; Primary immunodeficiency syndrome due to LAMTOR2 deficiency; Primary immunodeficiency syndrome due to P14 deficiency; Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency (ORPHA:90023)
Association type: UNKNOWN
Gene: CACNA1I
Disease: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND WITH OR WITHOUT SEIZURES (OMIM:620114)
Association type: MENDELIAN
Gene: CACNA1I
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: ITPR3
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J (OMIM:620111)
Association type: MENDELIAN
Gene: ITPR3
Disease:  (OMIM:621254)
Association type: MENDELIAN
Gene: MATN3
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, 5 (OMIM:607078)
Association type: MENDELIAN
Gene: MATN3
Disease: OSTEOARTHRITIS SUSCEPTIBILITY 2 (OMIM:140600)
Association type: POLYGENIC
Gene: MATN3
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE (OMIM:608728)
Association type: MENDELIAN
Gene: MATN3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MATN3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MATN3
Disease: Spondyloepimetaphyseal dysplasia, matrilin-3 type; SEMD, MATN3-related; SEMD, matrilin-3 type (ORPHA:156728)
Association type: UNKNOWN
Gene: MATN3
Disease: Multiple epiphyseal dysplasia type 5; BHMED; Bilateral hereditary micro-epiphyseal dysplasia; EDM5; MED5; Polyepiphyseal dysplasia type 5 (ORPHA:93311)
Association type: UNKNOWN
Gene: IKZF5
Disease: THROMBOCYTOPENIA 7 (OMIM:619130)
Association type: MENDELIAN
Gene: IKZF5
Disease: Autosomal thrombocytopenia with normal platelets (ORPHA:168629)
Association type: UNKNOWN
Gene: VPS35L
Disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Association type: MENDELIAN
Gene: VPS35L
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: VPS35L
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: VPS35L
Disease: 3C syndrome; Craniocerebellocardiac dysplasia; Ritscher-Schinzel syndrome (ORPHA:7)
Association type: UNKNOWN
Gene: KDELR2
Disease: OSTEOGENESIS IMPERFECTA, TYPE XXI (OMIM:619131)
Association type: MENDELIAN
Gene: KDELR2
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: KDELR2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: KDELR2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: KDELR2
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: CYLD
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8 (OMIM:619132)
Association type: MENDELIAN
Gene: CYLD
Disease: BROOKE-SPIEGLER SYNDROME (OMIM:605041)
Association type: MENDELIAN
Gene: CYLD
Disease: CYLINDROMATOSIS, FAMILIAL (OMIM:132700)
Association type: MENDELIAN
Gene: CYLD
Disease: TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1 (OMIM:601606)
Association type: MENDELIAN
Gene: CYLD
Disease: Familial cylindromatosis; Turban tumor syndrome (ORPHA:211)
Association type: UNKNOWN
Gene: CYLD
Disease: Familial multiple trichoepithelioma (ORPHA:867)
Association type: UNKNOWN
Gene: SLURP1
Disease: MAL DE MELEDA (OMIM:248300)
Association type: MENDELIAN
Gene: SLURP1
Disease: Mal de Meleda; Keratosis palmoplantaris transgrediens of Siemens; Meleda disease; Transgrediens palmoplantar keratoderma of Siemens (ORPHA:87503)
Association type: UNKNOWN
Gene: CPAP
Disease: MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608393)
Association type: MENDELIAN
Gene: CPAP
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CPAP
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CPAP
Disease: SECKEL SYNDROME 4 (OMIM:613676)
Association type: MENDELIAN
Gene: CPAP
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: CPAP
Disease: Seckel syndrome (ORPHA:808)
Association type: UNKNOWN
Gene: LRRK2
Disease: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
Association type: POLYGENIC
Gene: LRRK2
Disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Association type: UNKNOWN
Gene: LRRK2
Disease: Hereditary late-onset Parkinson disease; Autosomal dominant late-onset Parkinson disease; LOPD (ORPHA:411602)
Association type: UNKNOWN
Gene: ARG1
Disease: ARGININEMIA (OMIM:207800)
Association type: MENDELIAN
Gene: ARG1
Disease: Argininemia; Arginase deficiency; Hyperargininemia (ORPHA:90)
Association type: UNKNOWN
Gene: SCN4A
Disease: MYOTONIA, POTASSIUM-AGGRAVATED (OMIM:608390)
Association type: MENDELIAN
Gene: SCN4A
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16 (OMIM:614198)
Association type: MENDELIAN
Gene: SCN4A
Disease: HYPERKALEMIC PERIODIC PARALYSIS (OMIM:170500)
Association type: MENDELIAN
Gene: SCN4A
Disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1 (OMIM:170400)
Association type: MENDELIAN
Gene: SCN4A
Disease: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 (OMIM:613345)
Association type: MENDELIAN
Gene: SCN4A
Disease: PARAMYOTONIA CONGENITA OF VON EULENBURG (OMIM:168300)
Association type: MENDELIAN
Gene: SCN4A
Disease: CONGENITAL MYOPATHY 22A, CLASSIC (OMIM:620351)
Association type: MENDELIAN
Gene: SCN4A
Disease: CONGENITAL MYOPATHY 22B, SEVERE FETAL (OMIM:620369)
Association type: MENDELIAN
Gene: SCN4A
Disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Association type: UNKNOWN
Gene: SCN4A
Disease: Paramyotonia congenita of Von Eulenburg; Paramyotonia congenita (ORPHA:684)
Association type: UNKNOWN
Gene: SCN4A
Disease: Hyperkalemic periodic paralysis; Adynamia episodica hereditaria; Familial hyperPP; Familial hyperkalemic periodic paralysis; Gamstorp disease; Gamstorp episodic adynamy; HYPP; HyperKPP; HyperPP; Hyperkalemic PP; Primary hyperPP; Primary hyperkalemic periodic paralysis (ORPHA:682)
Association type: UNKNOWN
Gene: SCN4A
Disease: Hypokalemic periodic paralysis; Westphall disease (ORPHA:681)
Association type: UNKNOWN
Gene: SCN4A
Disease: Myotonia permanens (ORPHA:99735)
Association type: UNKNOWN
Gene: SCN4A
Disease: Acetazolamide-responsive myotonia; ACZ-responsive congenital myotonia; ACZ-responsive myotonia; Acetazolamide-responsive congenital myotonia; Myotonia-painful contractions syndrome; Painful congenital myotonia; Painful myotonia (ORPHA:99736)
Association type: UNKNOWN
Gene: SCN4A
Disease: Myotonia fluctuans; Exercise-induced delayed-onset myotonia; Fluctuating myotonia (ORPHA:99734)
Association type: UNKNOWN
Gene: BMP6
Disease: IRON OVERLOAD, SUSCEPTIBILITY TO (OMIM:620121)
Association type: POLYGENIC
Gene: BMP6
Disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of classic hemochromatosis; Symptomatic form of hemochromatosis type 1 (ORPHA:465508)
Association type: UNKNOWN
Gene: CCNF
Disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 (OMIM:619141)
Association type: MENDELIAN
Gene: CCNF
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: XRCC2
Disease: PREMATURE OVARIAN FAILURE 17 (OMIM:619146)
Association type: MENDELIAN
Gene: XRCC2
Disease: SPERMATOGENIC FAILURE 50 (OMIM:619145)
Association type: MENDELIAN
Gene: XRCC2
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
Association type: MENDELIAN
Gene: XRCC2
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: XRCC2
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: XRCC2
Disease: Hereditary breast cancer; Familial breast cancer; Familial breast carcinoma; Hereditary breast carcinoma (ORPHA:227535)
Association type: UNKNOWN
Gene: AGO2
Disease: LESSEL-KREIENKAMP SYNDROME (OMIM:619149)
Association type: MENDELIAN
Gene: AGO2
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: PROP1
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 2 (OMIM:262600)
Association type: MENDELIAN
Gene: PROP1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PROP1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PROP1
Disease: Non-acquired panhypopituitarism; Genetic panhypopituitarism (ORPHA:90695)
Association type: UNKNOWN
Gene: PROP1
Disease: Combined pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism; Multiple pituitary hormone deficiencies, genetic forms (ORPHA:95494)
Association type: UNKNOWN
Gene: PROP1
Disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Association type: UNKNOWN
Gene: PRKACA
Disease: CARDIOACROFACIAL DYSPLASIA 1 (OMIM:619142)
Association type: MENDELIAN
Gene: PRKACA
Disease: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4 (OMIM:615830)
Association type: MENDELIAN
Gene: PRKACA
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PRKACA
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PRKACA
Disease: Ellis Van Creveld syndrome; Chondroectodermal dysplasia; Mesodermic dysplasia (ORPHA:289)
Association type: UNKNOWN
Gene: PRKACA
Disease: Fibrolamellar hepatocellular carcinoma; FHCC; Fibrolamellar hepatocarcinoma (ORPHA:401920)
Association type: UNKNOWN
Gene: PRKACB
Disease: CARDIOACROFACIAL DYSPLASIA 2 (OMIM:619143)
Association type: MENDELIAN
Gene: PRKACB
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PRKACB
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PRKACB
Disease: Ellis Van Creveld syndrome; Chondroectodermal dysplasia; Mesodermic dysplasia (ORPHA:289)
Association type: UNKNOWN
Gene: CFAP58
Disease: SPERMATOGENIC FAILURE 49 (OMIM:619144)
Association type: MENDELIAN
Gene: CERKL
Disease: RETINITIS PIGMENTOSA 26 (OMIM:608380)
Association type: MENDELIAN
Gene: CERKL
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CERKL
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: TAMM41
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 56 (OMIM:620139)
Association type: MENDELIAN
Gene: EYA1
Disease: OTOFACIOCERVICAL SYNDROME 1 (OMIM:166780)
Association type: MENDELIAN
Gene: EYA1
Disease: BRANCHIOOTIC SYNDROME 1 (OMIM:602588)
Association type: MENDELIAN
Gene: EYA1
Disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Association type: MENDELIAN
Gene: EYA1
Disease: Otofaciocervical syndrome; Fara-Chlupackova syndrome; OFC syndrome (ORPHA:2792)
Association type: UNKNOWN
Gene: EYA1
Disease: Branchiootic syndrome (ORPHA:52429)
Association type: UNKNOWN
Gene: EYA1
Disease: BOR syndrome; Branchiootorenal spectrum disorder; Branchiootorenal syndrome; Melnick-Fraser syndrome (ORPHA:107)
Association type: UNKNOWN
Gene: UQCRH
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11 (OMIM:620137)
Association type: MENDELIAN
Gene: MLIP
Disease: MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS (OMIM:620138)
Association type: MENDELIAN
Gene: UROD
Disease: PORPHYRIA CUTANEA TARDA (OMIM:176100)
Association type: MENDELIAN
Gene: UROD
Disease: Familial porphyria cutanea tarda; Porphyria cutanea tarda type II (ORPHA:443062)
Association type: UNKNOWN
Gene: UROD
Disease: Hepatoerythropoietic porphyria; HEP (ORPHA:95159)
Association type: UNKNOWN
Gene: NDUFB7
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 39 (OMIM:620135)
Association type: MENDELIAN
Gene: DCLRE1B
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8 (OMIM:620133)
Association type: MENDELIAN
Gene: SIX1
Disease: BRANCHIOOTIC SYNDROME 3 (OMIM:608389)
Association type: MENDELIAN
Gene: SIX1
Disease: BRANCHIOOTORENAL SYNDROME 1 (OMIM:113650)
Association type: MENDELIAN
Gene: SIX1
Disease: DEAFNESS, AUTOSOMAL DOMINANT 23 (OMIM:605192)
Association type: MENDELIAN
Gene: SIX1
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: SIX1
Disease: Branchiootic syndrome (ORPHA:52429)
Association type: UNKNOWN
Gene: SIX1
Disease: BOR syndrome; Branchiootorenal spectrum disorder; Branchiootorenal syndrome; Melnick-Fraser syndrome (ORPHA:107)
Association type: UNKNOWN
Gene: PNPLA8
Disease: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (OMIM:251950)
Association type: MENDELIAN
Gene: HIBCH
Disease: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY (OMIM:250620)
Association type: MENDELIAN
Gene: HIBCH
Disease: Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency; HIBCH deficiency; Methacrylic aciduria; Valine metabolic defect (ORPHA:88639)
Association type: UNKNOWN
Gene: PRKAG3
Disease: SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS (OMIM:619030)
Association type: MENDELIAN
Gene: MSX1
Disease: WITKOP SYNDROME (OMIM:189500)
Association type: MENDELIAN
Gene: MSX1
Disease: OROFACIAL CLEFT 5 (OMIM:608874)
Association type: MENDELIAN
Gene: MSX1
Disease: TOOTH AGENESIS, SELECTIVE, 1 (OMIM:106600)
Association type: MENDELIAN
Gene: MSX1
Disease: Isolated cleft lip (ORPHA:199302)
Association type: UNKNOWN
Gene: MSX1
Disease: Cleft lip/palate; Alveolar cleft lip and palate; Cleft lip and palate; Cleft lip-alveolus-palate syndrome; FLP (ORPHA:199306)
Association type: UNKNOWN
Gene: MSX1
Disease: Cleft lip and alveolus (ORPHA:141291)
Association type: UNKNOWN
Gene: MSX1
Disease: Oligodontia; Selective tooth agenesis (ORPHA:99798)
Association type: UNKNOWN
Gene: MSX1
Disease: Hypodontia-dysplasia of nails syndrome; Hypodontia-nail dysgenesis syndrome; Tooth and nail syndrome; Witkop syndrome (ORPHA:2228)
Association type: UNKNOWN
Gene: RPS14
Disease: CHROMOSOME 5q DELETION SYNDROME (OMIM:153550)
Association type: MENDELIAN
Gene: RPS14
Disease: Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality; 5q- syndrome (ORPHA:86841)
Association type: UNKNOWN
Gene: CNOT1
Disease: VISSERS-BODMER SYNDROME (OMIM:619033)
Association type: MENDELIAN
Gene: CNOT1
Disease: HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS (OMIM:618500)
Association type: MENDELIAN
Gene: CNOT1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: CNOT1
Disease: Pancreatic agenesis-holoprosencephaly syndrome (ORPHA:556955)
Association type: UNKNOWN
Gene: DYSF
Disease: MIYOSHI MUSCULAR DYSTROPHY 1 (OMIM:254130)
Association type: MENDELIAN
Gene: DYSF
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 2 (OMIM:253601)
Association type: MENDELIAN
Gene: DYSF
Disease: MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET (OMIM:606768)
Association type: MENDELIAN
Gene: DYSF
Disease: Congenital myopathy, Paradas type (ORPHA:199329)
Association type: UNKNOWN
Gene: DYSF
Disease: Distal myopathy with anterior tibial onset; Distal anterior compartment myopathy (ORPHA:178400)
Association type: UNKNOWN
Gene: DYSF
Disease: Dysferlin-related limb-girdle muscular dystrophy R2; Autosomal recessive limb-girdle muscular dystrophy type 2B; Dysferlin-related LGMD R2; LGMD due to dysferlin deficiency; LGMD type 2B; LGMD2B; Limb-girdle muscular dystrophy due to dysferlin deficiency; Limb-girdle muscular dystrophy type 2B (ORPHA:268)
Association type: UNKNOWN
Gene: DYSF
Disease: Miyoshi myopathy (ORPHA:45448)
Association type: UNKNOWN
Gene: TRAPPC10
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY (OMIM:620027)
Association type: MENDELIAN
Gene: TRAPPC10
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: ALDH1A2
Disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Association type: MENDELIAN
Gene: ALDH1A2
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: SF3B2
Disease: HEMIFACIAL MICROSOMIA (OMIM:164210)
Association type: MENDELIAN
Gene: SF3B2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CHKA
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES (OMIM:620023)
Association type: MENDELIAN
Gene: CHKA
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: PPFIBP1
Disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, MICROCEPHALY, AND BRAIN ABNORMALITIES (OMIM:620024)
Association type: MENDELIAN
Gene: PDZD8
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES (OMIM:620021)
Association type: MENDELIAN
Gene: ALDH7A1
Disease: EPILEPSY, PYRIDOXINE-DEPENDENT (OMIM:266100)
Association type: MENDELIAN
Gene: ALDH7A1
Disease: Pyridoxine-dependent epilepsy; Antiquitin deficiency; Vitamin B6-dependent seizures (ORPHA:3006)
Association type: UNKNOWN
Gene: SVIL
Disease: MYOFIBRILLAR MYOPATHY 10 (OMIM:619040)
Association type: MENDELIAN
Gene: ACE
Disease: RENAL TUBULAR DYSGENESIS (OMIM:267430)
Association type: MENDELIAN
Gene: ACE
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO (OMIM:614519)
Association type: POLYGENIC
Gene: ACE
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3 (OMIM:612624)
Association type: POLYGENIC
Gene: ACE
Disease: Renal tubular dysgenesis of genetic origin (ORPHA:97369)
Association type: UNKNOWN