TaoMedAI/RareMedData huggingface dataset:
Gene: MTM1
Disease: MYOPATHY, CENTRONUCLEAR, X-LINKED (OMIM:310400)
Association type: MENDELIAN
Gene: MTM1
Disease: X-linked myotubular myopathy-abnormal genitalia syndrome; Xq28 contiguous gene deletion syndrome (ORPHA:456328)
Association type: UNKNOWN
Gene: MTM1
Disease: X-linked centronuclear myopathy; X-linked myotubular myopathy; XLCNM; XLMTM (ORPHA:596)
Association type: UNKNOWN
Gene: SH3PXD2B
Disease: FRANK-TER HAAR SYNDROME (OMIM:249420)
Association type: MENDELIAN
Gene: SH3PXD2B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SH3PXD2B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SH3PXD2B
Disease: Frank-Ter Haar syndrome; Ter Haar syndrome (ORPHA:137834)
Association type: UNKNOWN
Gene: SEC23B
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE II (OMIM:224100)
Association type: MENDELIAN
Gene: SEC23B
Disease: COWDEN SYNDROME 7 (OMIM:616858)
Association type: MENDELIAN
Gene: SEC23B
Disease: Cowden syndrome; Cowden disease; Multiple hamartoma syndrome (ORPHA:201)
Association type: UNKNOWN
Gene: SEC23B
Disease: Congenital dyserythropoietic anemia type II; CDA II; CDA type 2; CDA type II; Congenital dyserythropoietic anemia type 2; Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas); SEC23B-CDG (ORPHA:98873)
Association type: UNKNOWN
Gene: VPS13A
Disease: CHOREOACANTHOCYTOSIS (OMIM:200150)
Association type: MENDELIAN
Gene: VPS13A
Disease: Choreoacanthocytosis; ChAc; Chorea-acanthocytosis; Levine-Critchley syndrome (ORPHA:2388)
Association type: UNKNOWN
Gene: HADHA
Disease: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:609015)
Association type: MENDELIAN
Gene: HADHA
Disease: LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
Association type: MENDELIAN
Gene: HADHA
Disease: Mitochondrial trifunctional protein deficiency; TFP deficiency; TFPD (ORPHA:746)
Association type: UNKNOWN
Gene: HADHA
Disease: Acute fatty liver of pregnancy; AFLP (ORPHA:243367)
Association type: UNKNOWN
Gene: HADHA
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency; LCHAD deficiency; LCHADD; Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency (ORPHA:5)
Association type: UNKNOWN
Gene: GAMT
Disease: CEREBRAL CREATINE DEFICIENCY SYNDROME 2 (OMIM:612736)
Association type: MENDELIAN
Gene: GAMT
Disease: Guanidinoacetate methyltransferase deficiency; GAMT deficiency (ORPHA:382)
Association type: UNKNOWN
Gene: MMP13
Disease: METAPHYSEAL DYSPLASIA, SPAHR TYPE (OMIM:250400)
Association type: MENDELIAN
Gene: MMP13
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE (OMIM:602111)
Association type: MENDELIAN
Gene: MMP13
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MMP13
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MMP13
Disease: Metaphyseal chondrodysplasia, Spahr type (ORPHA:2501)
Association type: UNKNOWN
Gene: MMP13
Disease: Metaphyseal anadysplasia; Maroteaux-Verloes-Stanescu syndrome; Regressive metaphyseal dysplasia (ORPHA:1040)
Association type: UNKNOWN
Gene: MMP13
Disease: Spondyloepimetaphyseal dysplasia, Missouri type; SEMD type 2; SEMD, Missouri type; Spondyloepimetaphyseal dysplasia type 2 (ORPHA:93356)
Association type: UNKNOWN
Gene: VCL
Disease: CARDIOMYOPATHY, DILATED, 1W (OMIM:611407)
Association type: MENDELIAN
Gene: VCL
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 (OMIM:613255)
Association type: MENDELIAN
Gene: VCL
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: UROS
Disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Association type: MENDELIAN
Gene: UROS
Disease: Congenital erythropoietic porphyria; CEP; Günther disease (ORPHA:79277)
Association type: UNKNOWN
Gene: ALAD
Disease: PORPHYRIA, ACUTE HEPATIC (OMIM:612740)
Association type: MENDELIAN
Gene: ALAD
Disease: Porphyria due to ALA dehydratase deficiency; ALAD porphyria; Porphyria due to ALAD deficiency; Porphyria due to delta-aminolevulinate dehydratase deficiency; Porphyria of Doss (ORPHA:100924)
Association type: UNKNOWN
Gene: ESPN
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT (OMIM:609006)
Association type: MENDELIAN
Gene: ESPN
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ESPN
Disease: USHER SYNDROME, TYPE 1M (OMIM:618632)
Association type: MENDELIAN
Gene: ESPN
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: ESPN
Disease: Usher syndrome type 1; USH1 (ORPHA:231169)
Association type: UNKNOWN
Gene: FXN
Disease: FRIEDREICH ATAXIA 2 (OMIM:601992)
Association type: MENDELIAN
Gene: FXN
Disease: FRIEDREICH ATAXIA (OMIM:229300)
Association type: MENDELIAN
Gene: FXN
Disease: Friedreich ataxia; FA; FRDA (ORPHA:95)
Association type: UNKNOWN
Gene: A4GALT
Disease: BLOOD GROUP, P1PK SYSTEM (OMIM:111400)
Association type: MENDELIAN
Gene: GANAB
Disease: POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:600666)
Association type: MENDELIAN
Gene: GANAB
Disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Association type: UNKNOWN
Gene: CDAN1
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia (OMIM:224120)
Association type: MENDELIAN
Gene: CDAN1
Disease: Congenital dyserythropoietic anemia type I; CDA I; CDA type 1; CDA type I; Congenital dyserythropoietic anemia type 1 (ORPHA:98869)
Association type: UNKNOWN
Gene: SLC22A5
Disease: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY (OMIM:212140)
Association type: MENDELIAN
Gene: SLC22A5
Disease: Systemic primary carnitine deficiency; CDSP; CUD; Carnitine transporter defect; Carnitine uptake deficiency; Deficiency of plasma-membrane carnitine transporter; SPCD (ORPHA:158)
Association type: UNKNOWN
Gene: ERF
Disease: CRANIOSYNOSTOSIS 4 (OMIM:600775)
Association type: MENDELIAN
Gene: ERF
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ERF
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ERF
Disease: CHITAYAT SYNDROME (OMIM:617180)
Association type: MENDELIAN
Gene: ERF
Disease: Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome; ERF-related syndromic craniosynostosis (ORPHA:647681)
Association type: UNKNOWN
Gene: ERF
Disease: Crouzon syndrome; Crouzon craniofacial dysostosis (ORPHA:207)
Association type: UNKNOWN
Gene: ADSL
Disease: ADENYLOSUCCINASE DEFICIENCY (OMIM:103050)
Association type: MENDELIAN
Gene: ADSL
Disease: Adenylosuccinate lyase deficiency; ADSL deficiency; Adenylosuccinase deficiency (ORPHA:46)
Association type: UNKNOWN
Gene: XRCC3
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6 (OMIM:613972)
Association type: POLYGENIC
Gene: XRCC3
Disease: BREAST CANCER (OMIM:114480)
Association type: POLYGENIC
Gene: GRIN2B
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 6, WITH OR WITHOUT SEIZURES (OMIM:613970)
Association type: MENDELIAN
Gene: GRIN2B
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 27 (OMIM:616139)
Association type: MENDELIAN
Gene: GRIN2B
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: GRIN2B
Disease:  (ORPHA:697160)
Association type: UNKNOWN
Gene: GRIN2B
Disease: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder; GRIN2B-Related Neurodevelopmental Disorder (ORPHA:589547)
Association type: UNKNOWN
Gene: GJB3
Disease: DEAFNESS, AUTOSOMAL DOMINANT 2B (OMIM:612644)
Association type: MENDELIAN
Gene: GJB3
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 (OMIM:133200)
Association type: MENDELIAN
Gene: GJB3
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 1A (OMIM:220290)
Association type: MENDELIAN
Gene: GJB3
Disease: Erythrokeratodermia variabilis; EKV; Erythrokeratodermia variabilis, Mendes da Costa type (ORPHA:317)
Association type: UNKNOWN
Gene: GJB3
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: GJB3
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: GJB3
Disease: Neuropathy with hearing impairment (ORPHA:139512)
Association type: UNKNOWN
Gene: HOXA13
Disease: HAND-FOOT-GENITAL SYNDROME (OMIM:140000)
Association type: MENDELIAN
Gene: HOXA13
Disease: PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS (OMIM:176305)
Association type: MENDELIAN
Gene: HOXA13
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HOXA13
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HOXA13
Disease: Hand-foot-genital syndrome; HFGS; Hand-foot-uterus syndrome (ORPHA:2438)
Association type: UNKNOWN
Gene: HOXA13
Disease: Guttmacher syndrome; Preaxial deficiency-postaxial polydactyly-hypospadias syndrome (ORPHA:2957)
Association type: UNKNOWN
Gene: HBG2
Disease: CYANOSIS, TRANSIENT NEONATAL (OMIM:613977)
Association type: MENDELIAN
Gene: HBG2
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 (OMIM:141749)
Association type: MENDELIAN
Gene: HBG2
Disease: Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome; HPFH-beta-thalassemia syndrome (ORPHA:46532)
Association type: UNKNOWN
Gene: HBG2
Disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Association type: UNKNOWN
Gene: HBG2
Disease: Hemoglobinopathy Toms River; Transient neonatal cyanosis and anemia due to Toms River Hemoglobin (ORPHA:280615)
Association type: UNKNOWN
Gene: RSPH4A
Disease: CILIARY DYSKINESIA, PRIMARY, 11 (OMIM:612649)
Association type: MENDELIAN
Gene: RSPH4A
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: HBA2
Disease: HEMOGLOBIN H DISEASE (OMIM:613978)
Association type: MENDELIAN
Gene: HBA2
Disease: ERYTHROCYTOSIS, FAMILIAL, 7 (OMIM:617981)
Association type: MENDELIAN
Gene: HBA2
Disease: HEINZ BODY ANEMIAS (OMIM:140700)
Association type: MENDELIAN
Gene: HBA2
Disease: ALPHA-THALASSEMIA (OMIM:604131)
Association type: MENDELIAN
Gene: HBA2
Disease: Hemoglobin M disease; M hemoglobinopathy (ORPHA:330041)
Association type: UNKNOWN
Gene: HBA2
Disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR syndrome, deletion type; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type (ORPHA:98791)
Association type: UNKNOWN
Gene: HBA2
Disease: Hb Bart's hydrops fetalis; Alpha-thalassemia hydrops fetalis; Alpha-thalassemia major; BHFS; HBHF; Haemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis; Haemoglobin Bart's hydrops fetalis syndrome; Hb Bart's hydrops fetalis syndrome; Hemoglobin Bart's disease; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; Homozygous alpha0-thalassemia (ORPHA:163596)
Association type: UNKNOWN
Gene: HBA2
Disease: Hemoglobin H disease; Alpha-thalassemia intermedia; HbH disease (ORPHA:93616)
Association type: UNKNOWN
Gene: HBA2
Disease: Autosomal dominant secondary polycythemia; Autosomal dominant secondary erythrocytosis (ORPHA:247511)
Association type: UNKNOWN
Gene: HBA1
Disease: HEMOGLOBIN H DISEASE (OMIM:613978)
Association type: MENDELIAN
Gene: HBA1
Disease: METHEMOGLOBINEMIA, ALPHA TYPE (OMIM:617973)
Association type: MENDELIAN
Gene: HBA1
Disease: ERYTHROCYTOSIS, FAMILIAL, 7 (OMIM:617981)
Association type: MENDELIAN
Gene: HBA1
Disease: HEINZ BODY ANEMIAS (OMIM:140700)
Association type: MENDELIAN
Gene: HBA1
Disease: ALPHA-THALASSEMIA (OMIM:604131)
Association type: MENDELIAN
Gene: HBA1
Disease: Hemoglobin M disease; M hemoglobinopathy (ORPHA:330041)
Association type: UNKNOWN
Gene: HBA1
Disease: Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16; ATR syndrome linked to chromosome 16; ATR syndrome, deletion type; ATR-16 syndrome; Alpha thalassemia-intellectual disability syndrome, deletion type (ORPHA:98791)
Association type: UNKNOWN
Gene: HBA1
Disease: Hb Bart's hydrops fetalis; Alpha-thalassemia hydrops fetalis; Alpha-thalassemia major; BHFS; HBHF; Haemoglobin Bart's disease; Haemoglobin Bart's hydrops fetalis; Haemoglobin Bart's hydrops fetalis syndrome; Hb Bart's hydrops fetalis syndrome; Hemoglobin Bart's disease; Hemoglobin Bart's hydrops fetalis; Hemoglobin Bart's hydrops fetalis syndrome; Homozygous alpha0-thalassemia (ORPHA:163596)
Association type: UNKNOWN
Gene: HBA1
Disease: Hemoglobin H disease; Alpha-thalassemia intermedia; HbH disease (ORPHA:93616)
Association type: UNKNOWN
Gene: HBA1
Disease: Autosomal dominant secondary polycythemia; Autosomal dominant secondary erythrocytosis (ORPHA:247511)
Association type: UNKNOWN
Gene: OPA3
Disease: OPTIC ATROPHY 3, AUTOSOMAL DOMINANT (OMIM:165300)
Association type: MENDELIAN
Gene: OPA3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: OPA3
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Association type: MENDELIAN
Gene: OPA3
Disease: Autosomal dominant optic atrophy and cataract; Autosomal dominant optic atrophy type 3; OPA3, autosomal dominant (ORPHA:67036)
Association type: UNKNOWN
Gene: OPA3
Disease: 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome; Autosomal recessive optic atrophy type 3; Costeff optic atrophy syndrome; Costeff syndrome; Infantile optic atrophy with chorea and spastic paraplegia; MGA3 (ORPHA:67047)
Association type: UNKNOWN
Gene: NEU1
Disease: NEURAMINIDASE DEFICIENCY (OMIM:256550)
Association type: MENDELIAN
Gene: NEU1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NEU1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NEU1
Disease: Sialidosis type 1; Cherry-red spot-myoclonus syndrome; Lipomucopolysaccharidosis; Normomorphic sialidosis (ORPHA:812)
Association type: UNKNOWN
Gene: NEU1
Disease: Juvenile sialidosis type 2 (ORPHA:93399)
Association type: UNKNOWN
Gene: NEU1
Disease: Congenital sialidosis type 2 (ORPHA:93400)
Association type: UNKNOWN
Gene: FGF10
Disease: APLASIA OF LACRIMAL AND SALIVARY GLANDS (OMIM:180920)
Association type: MENDELIAN
Gene: FGF10
Disease: LACRIMOAURICULODENTODIGITAL SYNDROME 3 (OMIM:620193)
Association type: MENDELIAN
Gene: FGF10
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FGF10
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FGF10
Disease: Aplasia of lacrimal and salivary glands; ALSG; Congenital absence of lacrimal puncta and salivary glands (ORPHA:86815)
Association type: UNKNOWN
Gene: FGF10
Disease: Lacrimoauriculodentodigital syndrome; LADD syndrome; LARD syndrome; Lacrimoauriculoradiodental syndrome; Levy-Hollister syndrome (ORPHA:2363)
Association type: UNKNOWN
Gene: SERPINF1
Disease: OSTEOGENESIS IMPERFECTA, TYPE VI (OMIM:613982)
Association type: MENDELIAN
Gene: SERPINF1
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: SERPINF1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SERPINF1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SERPINF1
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: SERPINF1
Disease: Osteogenesis imperfecta type 3; OI type 3; Progressive deforming osteogenesis imperfecta; Severe osteogenesis imperfecta (ORPHA:216812)
Association type: UNKNOWN
Gene: SERPINF1
Disease: Osteogenesis imperfecta type 4; OI type 4 (ORPHA:216820)
Association type: UNKNOWN
Gene: RSPH9
Disease: CILIARY DYSKINESIA, PRIMARY, 12 (OMIM:612650)
Association type: MENDELIAN
Gene: RSPH9
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: PRPF6
Disease: RETINITIS PIGMENTOSA 60 (OMIM:613983)
Association type: MENDELIAN
Gene: PRPF6
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PRPF6
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: KCNJ2
Disease: ATRIAL FIBRILLATION, FAMILIAL, 9 (OMIM:613980)
Association type: MENDELIAN
Gene: KCNJ2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: KCNJ2
Disease: SHORT QT SYNDROME 3 (OMIM:609622)
Association type: MENDELIAN
Gene: KCNJ2
Disease: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS (OMIM:170390)
Association type: MENDELIAN
Gene: KCNJ2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: KCNJ2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: KCNJ2
Disease: Familial short QT syndrome; SQTS (ORPHA:51083)
Association type: UNKNOWN
Gene: KCNJ2
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: KCNJ2
Disease: Andersen-Tawil syndrome; Andersen syndrome; LQT7; Long QT syndrome type 7 (ORPHA:37553)
Association type: UNKNOWN
Gene: KRT74
Disease: HYPOTRICHOSIS 3 (OMIM:613981)
Association type: MENDELIAN
Gene: KRT74
Disease: WOOLLY HAIR, AUTOSOMAL DOMINANT (OMIM:194300)
Association type: MENDELIAN
Gene: KRT74
Disease: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE (OMIM:614929)
Association type: MENDELIAN
Gene: KRT74
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: KRT74
Disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Association type: UNKNOWN
Gene: KRT74
Disease: Pure hair and nail ectodermal dysplasia; HNED; Hair-nail ectodermal dysplasia; PHNED (ORPHA:69084)
Association type: UNKNOWN
Gene: CILK1
Disease: ENDOCRINE-CEREBROOSTEODYSPLASIA (OMIM:612651)
Association type: MENDELIAN
Gene: CILK1
Disease: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10 (OMIM:617924)
Association type: POLYGENIC
Gene: CILK1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CILK1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CILK1
Disease: Endocrine-cerebro-osteodysplasia syndrome; ECO syndrome (ORPHA:199332)
Association type: UNKNOWN
Gene: CILK1
Disease: Juvenile myoclonic epilepsy; JME; Juvenile myoclonus epilepsy (ORPHA:307)
Association type: UNKNOWN
Gene: SLC1A3
Disease: EPISODIC ATAXIA, TYPE 6 (OMIM:612656)
Association type: MENDELIAN
Gene: SLC1A3
Disease: Episodic ataxia type 6 (ORPHA:209967)
Association type: UNKNOWN
Gene: SLC1A3
Disease: Alternating hemiplegia of childhood; AHC (ORPHA:2131)
Association type: UNKNOWN
Gene: HBB
Disease: BETA-THALASSEMIA (OMIM:613985)
Association type: MENDELIAN
Gene: HBB
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 (OMIM:141749)
Association type: MENDELIAN
Gene: HBB
Disease: METHEMOGLOBINEMIA, BETA TYPE (OMIM:617971)
Association type: MENDELIAN
Gene: HBB
Disease: ERYTHROCYTOSIS, FAMILIAL, 6 (OMIM:617980)
Association type: MENDELIAN
Gene: HBB
Disease: HEINZ BODY ANEMIAS (OMIM:140700)
Association type: MENDELIAN
Gene: HBB
Disease: SICKLE CELL ANEMIA (OMIM:603903)
Association type: MENDELIAN
Gene: HBB
Disease: BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE (OMIM:603902)
Association type: MENDELIAN
Gene: HBB
Disease: ALPHA-THALASSEMIA (OMIM:604131)
Association type: MENDELIAN
Gene: HBB
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: HBB
Disease: Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome; HPFH-beta-thalassemia syndrome (ORPHA:46532)
Association type: UNKNOWN
Gene: HBB
Disease: Hemoglobin Lepore-beta-thalassemia syndrome; HbLepore-beta-thalassemia syndrome; Lepore-beta-thalassemia syndrome (ORPHA:330032)
Association type: UNKNOWN
Gene: HBB
Disease: Hemoglobin M disease; M hemoglobinopathy (ORPHA:330041)
Association type: UNKNOWN
Gene: HBB
Disease: Sickle cell anemia (ORPHA:232)
Association type: UNKNOWN
Gene: HBB
Disease:  (ORPHA:695147)
Association type: UNKNOWN
Gene: HBB
Disease:  (ORPHA:695140)
Association type: UNKNOWN
Gene: HBB
Disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Association type: UNKNOWN
Gene: HBB
Disease: Sickle cell-hemoglobin E disease syndrome; HbSE disease (ORPHA:251375)
Association type: UNKNOWN
Gene: HBB
Disease: Sickle cell-hemoglobin D disease syndrome; HbSD disease (ORPHA:251370)
Association type: UNKNOWN
Gene: HBB
Disease: Sickle cell-hemoglobin C disease syndrome; HbSC disease (ORPHA:251365)
Association type: UNKNOWN
Gene: HBB
Disease:  (ORPHA:699822)
Association type: UNKNOWN
Gene: HBB
Disease: Hemoglobin D disease (ORPHA:90039)
Association type: UNKNOWN
Gene: HBB
Disease:  (ORPHA:700090)
Association type: UNKNOWN
Gene: HBB
Disease:  (ORPHA:700107)
Association type: UNKNOWN
Gene: HBB
Disease:  (ORPHA:700111)
Association type: UNKNOWN
Gene: HBB
Disease: Hemoglobin E disease (ORPHA:2133)
Association type: UNKNOWN
Gene: HBB
Disease: Hemoglobin C disease (ORPHA:2132)
Association type: UNKNOWN
Gene: HBB
Disease: Delta-beta-thalassemia (ORPHA:231237)
Association type: UNKNOWN
Gene: HBB
Disease: Hemoglobin C-beta-thalassemia syndrome; C-beta-thalassemia; HbC-beta-thalassemia syndrome (ORPHA:231242)
Association type: UNKNOWN
Gene: HBB
Disease: Hemoglobin E-beta-thalassemia syndrome; E-beta-thalassemia; HbE-beta-thalassemia syndrome (ORPHA:231249)
Association type: UNKNOWN
Gene: HBB
Disease: Beta-thalassemia major; Cooley anemia; Mediterranean anemia (ORPHA:231214)
Association type: UNKNOWN
Gene: HBB
Disease: Beta-thalassemia intermedia (ORPHA:231222)
Association type: UNKNOWN
Gene: HBB
Disease: Dominant beta-thalassemia; Inclusion body beta-thalassemia (ORPHA:231226)
Association type: UNKNOWN
Gene: HBB
Disease: Autosomal dominant secondary polycythemia; Autosomal dominant secondary erythrocytosis (ORPHA:247511)
Association type: UNKNOWN
Gene: WRAP53
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 (OMIM:613988)
Association type: MENDELIAN
Gene: WRAP53
Disease: Dyskeratosis congenita; DC; DKC; Zinsser-Engman-Cole syndrome (ORPHA:1775)
Association type: UNKNOWN
Gene: CTSA
Disease: GALACTOSIALIDOSIS (OMIM:256540)
Association type: MENDELIAN
Gene: CTSA
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CTSA
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CTSA
Disease: Galactosialidosis; Goldberg syndrome; Neuraminidase deficiency with beta-galactosidase deficiency (ORPHA:351)
Association type: UNKNOWN
Gene: CTSA
Disease: Cathepsin A-related arteriopathy-strokes-leukoencephalopathy; CARASAL (ORPHA:575553)
Association type: UNKNOWN
Gene: ZAP70
Disease: IMMUNODEFICIENCY 48 (OMIM:269840)
Association type: MENDELIAN
Gene: ZAP70
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 (OMIM:617006)
Association type: MENDELIAN