TaoMedAI/RareMedData huggingface dataset:
Gene: SCN4B
Disease: LONG QT SYNDROME 10 (OMIM:611819)
Association type: MENDELIAN
Gene: SCN4B
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: SCN4B
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: TLR8
Disease: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED (OMIM:301078)
Association type: MENDELIAN
Gene: TLR8
Disease: TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome; INFLTR8; Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome (ORPHA:675628)
Association type: UNKNOWN
Gene: PAX9
Disease: TOOTH AGENESIS, SELECTIVE, 3 (OMIM:604625)
Association type: MENDELIAN
Gene: PAX9
Disease: Oligodontia; Selective tooth agenesis (ORPHA:99798)
Association type: UNKNOWN
Gene: WDR35
Disease: SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY (OMIM:614091)
Association type: MENDELIAN
Gene: WDR35
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: WDR35
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: WDR35
Disease: CRANIOECTODERMAL DYSPLASIA 2 (OMIM:613610)
Association type: MENDELIAN
Gene: WDR35
Disease: Cranioectodermal dysplasia; CED; Sensenbrenner syndrome (ORPHA:1515)
Association type: UNKNOWN
Gene: WDR35
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type; Short rib-polydactyly syndrome type 3 (ORPHA:93271)
Association type: UNKNOWN
Gene: WDR35
Disease: Short rib-polydactyly syndrome type 5 (ORPHA:498497)
Association type: UNKNOWN
Gene: ELF4
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 (OMIM:301074)
Association type: MENDELIAN
Gene: ELF4
Disease: X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency; DEX; Deficiency in ELF4, X-linked; X-AIDE; X-linked autoinflammatory and immunodeficiency disease associated with ELF4; X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency (ORPHA:676125)
Association type: UNKNOWN
Gene: ELF4
Disease: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia (ORPHA:632)
Association type: UNKNOWN
Gene: DOCK8
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:243700)
Association type: MENDELIAN
Gene: DOCK8
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: DOCK8
Disease: Combined immunodeficiency due to DOCK8 deficiency; CID due to DOCK8 deficiency; Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency; DOCK8 immunodeficiency syndrome (ORPHA:217390)
Association type: UNKNOWN
Gene: GLRA2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE (OMIM:301076)
Association type: MENDELIAN
Gene: GCNA
Disease: SPERMATOGENIC FAILURE, X-LINKED, 4 (OMIM:301077)
Association type: MENDELIAN
Gene: GCNA
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: AARS2
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 (OMIM:614096)
Association type: MENDELIAN
Gene: AARS2
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE (OMIM:615889)
Association type: MENDELIAN
Gene: AARS2
Disease: Ovarioleukodystrophy (ORPHA:99853)
Association type: UNKNOWN
Gene: AARS2
Disease: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia; ALSP; Autosomal dominant leukoencephalopathy with neuroaxonal spheroids; FPSG; Familial dementia, Neumann type; Familial progressive subcortical gliosis; GPSC; HDLS; Hereditary diffuse leukoencephalopathy with spheroids; POLD; Pigmentary orthochromatic leukodystrophy; Subcortical gliosis of Neumann (ORPHA:313808)
Association type: UNKNOWN
Gene: AARS2
Disease: Combined oxidative phosphorylation defect type 8; COXPD8 (ORPHA:319504)
Association type: UNKNOWN
Gene: CAT
Disease: ACATALASEMIA (OMIM:614097)
Association type: MENDELIAN
Gene: CAT
Disease: Acatalasemia; Catalase deficiency (ORPHA:926)
Association type: UNKNOWN
Gene: KCNJ6
Disease: KEPPEN-LUBINSKY SYNDROME (OMIM:614098)
Association type: MENDELIAN
Gene: KCNJ6
Disease: Keppen-Lubinsky syndrome; Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome (ORPHA:435628)
Association type: UNKNOWN
Gene: HRURF
Disease: HYPOTRICHOSIS 4 (OMIM:146550)
Association type: MENDELIAN
Gene: F8
Disease: THROMBOPHILIA, X-LINKED, DUE TO FACTOR VIII DEFECT (OMIM:301071)
Association type: MENDELIAN
Gene: F8
Disease: HEMOPHILIA A (OMIM:306700)
Association type: MENDELIAN
Gene: F8
Disease: Bleeding disorder in hemophilia A carriers (ORPHA:177926)
Association type: UNKNOWN
Gene: F8
Disease: Moderate hemophilia A; Moderate congenital F8 deficiency; Moderate congenital factor VIII deficiency (ORPHA:169805)
Association type: UNKNOWN
Gene: F8
Disease: Mild hemophilia A; Mild congenital F8 deficiency; Mild congenital factor VIII deficiency (ORPHA:169808)
Association type: UNKNOWN
Gene: F8
Disease: Severe hemophilia A; Severe congenital F8 deficiency; Severe congenital factor VIII deficiency (ORPHA:169802)
Association type: UNKNOWN
Gene: PIGA
Disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS (OMIM:301072)
Association type: MENDELIAN
Gene: PIGA
Disease: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2 (OMIM:300868)
Association type: MENDELIAN
Gene: PIGA
Disease: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 (OMIM:300818)
Association type: MENDELIAN
Gene: PIGA
Disease: Multiple congenital anomalies-hypotonia-seizures syndrome type 2; MCAHS type 2 (ORPHA:300496)
Association type: UNKNOWN
Gene: PIGA
Disease:  (ORPHA:697160)
Association type: UNKNOWN
Gene: PIGA
Disease: Epilepsy of infancy with migrating focal seizures; EIMFS; Epilepsy with migrating focal seizure in infancy; MMPEI; MMPSI; MPEI; MPSI; Malignant migrating partial epilepsy of infancy; Malignant migrating partial seizures of infancy; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Association type: UNKNOWN
Gene: PIGA
Disease: Ferro-cerebro-cutaneous syndrome; Cerebro-cutaneous syndrome with iron overload (ORPHA:397922)
Association type: UNKNOWN
Gene: PIGA
Disease: Paroxysmal nocturnal hemoglobinuria; Marchiafava-Micheli disease; PNH (ORPHA:447)
Association type: UNKNOWN
Gene: EPX
Disease: EOSINOPHIL PEROXIDASE DEFICIENCY (OMIM:261500)
Association type: MENDELIAN
Gene: MAT1A
Disease: METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY (OMIM:250850)
Association type: MENDELIAN
Gene: MAT1A
Disease: Methionine adenosyltransferase I/III deficiency; MAT I/III deficiency; Mudd's disease (ORPHA:168598)
Association type: UNKNOWN
Gene: SERPINH1
Disease: PRETERM PREMATURE RUPTURE OF THE MEMBRANES (OMIM:610504)
Association type: POLYGENIC
Gene: SERPINH1
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: SERPINH1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SERPINH1
Disease: OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
Association type: MENDELIAN
Gene: SERPINH1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SERPINH1
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: SERPINH1
Disease: Osteogenesis imperfecta type 3; OI type 3; Progressive deforming osteogenesis imperfecta; Severe osteogenesis imperfecta (ORPHA:216812)
Association type: UNKNOWN
Gene: TSFM
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3 (OMIM:610505)
Association type: MENDELIAN
Gene: TSFM
Disease: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3; Fatal mitochondrial disease due to COXPD3 (ORPHA:168566)
Association type: UNKNOWN
Gene: COQ2
Disease: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO (OMIM:146500)
Association type: POLYGENIC
Gene: COQ2
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Association type: MENDELIAN
Gene: COQ2
Disease: Multiple system atrophy, cerebellar type; MSA, cerebellar type; MSA-c; Sporadic OPCA type 1; Sporadic olivopontocerebellar atrophy type 1 (ORPHA:227510)
Association type: UNKNOWN
Gene: COQ2
Disease: Multiple system atrophy, parkinsonian type; MSA, parkinsonian type; MSA-p (ORPHA:98933)
Association type: UNKNOWN
Gene: KCNQ3
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 2 (OMIM:121201)
Association type: MENDELIAN
Gene: KCNQ3
Disease: Juvenile myoclonic epilepsy; JME; Juvenile myoclonus epilepsy (ORPHA:307)
Association type: UNKNOWN
Gene: KCNQ3
Disease: Self-limited infantile epilepsy; BFIE; BFIS; Benign familial infantile convulsions; Benign familial infantile epilepsy; Benign familial infantile seizures; SeLIE (ORPHA:306)
Association type: UNKNOWN
Gene: KCNQ3
Disease: Self-limited neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal epilepsy; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Association type: UNKNOWN
Gene: KLF11
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7 (OMIM:610508)
Association type: MENDELIAN
Gene: KLF11
Disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Association type: UNKNOWN
Gene: KCNQ2
Disease: SEIZURES, BENIGN FAMILIAL NEONATAL, 1 (OMIM:121200)
Association type: MENDELIAN
Gene: KCNQ2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 (OMIM:613720)
Association type: MENDELIAN
Gene: KCNQ2
Disease: Self-limited infantile epilepsy; BFIE; BFIS; Benign familial infantile convulsions; Benign familial infantile epilepsy; Benign familial infantile seizures; SeLIE (ORPHA:306)
Association type: UNKNOWN
Gene: KCNQ2
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: KCNQ2
Disease: Self-limited neonatal epilepsy; BFNS; Benign familial neonatal convulsions; Benign familial neonatal epilepsy; Benign familial neonatal seizures; SeLNE (ORPHA:1949)
Association type: UNKNOWN
Gene: KCNQ2
Disease: KCNQ2-related epileptic encephalopathy; KCNQ2-NEE; KCNQ2-related neonatal epileptic encephalopathy (ORPHA:439218)
Association type: UNKNOWN
Gene: KCNQ2
Disease: Epilepsy of infancy with migrating focal seizures; EIMFS; Epilepsy with migrating focal seizure in infancy; MMPEI; MMPSI; MPEI; MPSI; Malignant migrating partial epilepsy of infancy; Malignant migrating partial seizures of infancy; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Association type: UNKNOWN
Gene: KCNQ2
Disease: Self-limited neonatal-infantile epilepsy; BFNIS; Benign familial neonatal-infantile seizures; Benign neonatal-infantile epilepsy; SeLFNIE (ORPHA:140927)
Association type: UNKNOWN
Gene: MAN2B1
Disease: MANNOSIDOSIS, ALPHA B, LYSOSOMAL (OMIM:248500)
Association type: MENDELIAN
Gene: MAN2B1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MAN2B1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MAN2B1
Disease: Alpha-mannosidosis, infantile form; Lysosomal alpha-D-mannosidase deficiency, infantile form (ORPHA:309282)
Association type: UNKNOWN
Gene: MAN2B1
Disease: Alpha-mannosidosis, adult form; Lysosomal alpha-D-mannosidase deficiency, adult form (ORPHA:309288)
Association type: UNKNOWN
Gene: CDSN
Disease: HYPOTRICHOSIS 2 (OMIM:146520)
Association type: MENDELIAN
Gene: CDSN
Disease: PEELING SKIN SYNDROME 1 (OMIM:270300)
Association type: MENDELIAN
Gene: CDSN
Disease: Peeling skin syndrome type B; Generalized peeling skin disease type B; Generalized peeling skin syndrome type B; Inflammatory peeling skin disease; Inflammatory peeling skin syndrome; PSS type B; PSS1; Peeling skin syndrome 1 (ORPHA:263553)
Association type: UNKNOWN
Gene: CDSN
Disease: Hypotrichosis simplex of the scalp; Hereditary hypotrichosis simplex of the scalp (ORPHA:90368)
Association type: UNKNOWN
Gene: RPGRIP1
Disease: CONE-ROD DYSTROPHY 13 (OMIM:608194)
Association type: MENDELIAN
Gene: RPGRIP1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RPGRIP1
Disease: LEBER CONGENITAL AMAUROSIS 6 (OMIM:613826)
Association type: MENDELIAN
Gene: RPGRIP1
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: RPGRIP1
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: RPGRIP1
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: HMGCS2
Disease: 3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE-2 DEFICIENCY (OMIM:605911)
Association type: MENDELIAN
Gene: HMGCS2
Disease: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency; HMG-CoA synthase deficiency (ORPHA:35701)
Association type: UNKNOWN
Gene: MANBA
Disease: MANNOSIDOSIS, BETA A, LYSOSOMAL (OMIM:248510)
Association type: MENDELIAN
Gene: MANBA
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MANBA
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MANBA
Disease: Beta-mannosidosis; Beta-mannosidase deficiency (ORPHA:118)
Association type: UNKNOWN
Gene: FBLN1
Disease: SYNPOLYDACTYLY 2 (OMIM:608180)
Association type: MENDELIAN
Gene: FBLN1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FBLN1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FBLN1
Disease: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
Association type: UNKNOWN
Gene: FBLN1
Disease: Synpolydactyly type 2; SD2, Debeer type; SD2b; SPD, Debeer type; SPD2; Synpolydactyly, Debeer type (ORPHA:295197)
Association type: UNKNOWN
Gene: HYCC1
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 5 (OMIM:610532)
Association type: MENDELIAN
Gene: HYCC1
Disease: Hypomyelination-congenital cataract syndrome (ORPHA:85163)
Association type: UNKNOWN
Gene: EHBP1
Disease: PROSTATE CANCER, HEREDITARY, 12 (OMIM:611868)
Association type: POLYGENIC
Gene: EFTUD2
Disease: MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE (OMIM:610536)
Association type: MENDELIAN
Gene: EFTUD2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EFTUD2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EFTUD2
Disease: Mandibulofacial dysostosis-microcephaly syndrome; MFDM syndrome; Mandibulofacial dysostosis, Guion-Almeida type (ORPHA:79113)
Association type: UNKNOWN
Gene: GLI3
Disease: PALLISTER-HALL SYNDROME (OMIM:146510)
Association type: MENDELIAN
Gene: GLI3
Disease: POLYDACTYLY, POSTAXIAL, TYPE A1 (OMIM:174200)
Association type: MENDELIAN
Gene: GLI3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GLI3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GLI3
Disease: GREIG CEPHALOPOLYSYNDACTYLY SYNDROME (OMIM:175700)
Association type: MENDELIAN
Gene: GLI3
Disease: POLYDACTYLY, PREAXIAL IV (OMIM:174700)
Association type: MENDELIAN
Gene: GLI3
Disease: Greig cephalopolysyndactyly syndrome; GCPS (ORPHA:380)
Association type: UNKNOWN
Gene: GLI3
Disease: Acrocallosal syndrome; ACS (ORPHA:36)
Association type: UNKNOWN
Gene: GLI3
Disease: Pallister-Hall syndrome; Hypothalamic hamartoblastoma syndrome (ORPHA:672)
Association type: UNKNOWN
Gene: GLI3
Disease: Polysyndactyly; PPD4; Preaxial polydactyly type 4 (ORPHA:93338)
Association type: UNKNOWN
Gene: GLI3
Disease: Postaxial polydactyly type B (ORPHA:93335)
Association type: UNKNOWN
Gene: GLI3
Disease: Postaxial polydactyly type A (ORPHA:93334)
Association type: UNKNOWN
Gene: GLI3
Disease: Isolated tibial hemimelia; Isolated congenital absence of tibia; Isolated congenital aplasia and dysplasia of the tibia with intact fibula; Isolated congenital longitudinal deficiency of the tibia; Isolated tibial longitudinal meromelia (ORPHA:93322)
Association type: UNKNOWN
Gene: HFE
Disease: HEMOCHROMATOSIS, TYPE 1 (OMIM:235200)
Association type: MENDELIAN
Gene: HFE
Disease: Sporadic porphyria cutanea tarda; Porphyria cutanea tarda type I (ORPHA:443057)
Association type: UNKNOWN
Gene: HFE
Disease: Familial porphyria cutanea tarda; Porphyria cutanea tarda type II (ORPHA:443062)
Association type: UNKNOWN
Gene: HFE
Disease: Symptomatic form of HFE-related hemochromatosis; Symptomatic form of classic hemochromatosis; Symptomatic form of hemochromatosis type 1 (ORPHA:465508)
Association type: UNKNOWN
Gene: HFE
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: HFE
Disease: Digenic hemochromatosis (ORPHA:648581)
Association type: UNKNOWN
Gene: PTDSS1
Disease: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM (OMIM:151050)
Association type: MENDELIAN
Gene: PTDSS1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PTDSS1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PTDSS1
Disease: Lenz-Majewski hyperostotic dwarfism (ORPHA:2658)
Association type: UNKNOWN
Gene: PINK1
Disease: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:605909)
Association type: MENDELIAN
Gene: PINK1
Disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Association type: UNKNOWN
Gene: B3GLCT
Disease: PETERS-PLUS SYNDROME (OMIM:261540)
Association type: MENDELIAN
Gene: B3GLCT
Disease: Peters plus syndrome; Krause-Kivlin syndrome; Krause-van Schooneveld-Kivlin syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Association type: UNKNOWN
Gene: GFPT1
Disease: MYASTHENIC SYNDROME, CONGENITAL, 12 (OMIM:610542)
Association type: MENDELIAN
Gene: GFPT1
Disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Association type: MENDELIAN
Gene: GFPT1
Disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Association type: UNKNOWN
Gene: CACNB2
Disease: BRUGADA SYNDROME 4 (OMIM:611876)
Association type: MENDELIAN
Gene: CACNB2
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: TNNC1
Disease: CARDIOMYOPATHY, DILATED, 1Z (OMIM:611879)
Association type: MENDELIAN
Gene: TNNC1
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 (OMIM:613243)
Association type: MENDELIAN
Gene: TNNC1
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: ZFAT
Disease: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:608175)
Association type: POLYGENIC
Gene: DNAH12
Disease:  (OMIM:621209)
Association type: MENDELIAN
Gene: ALDOA
Disease: GLYCOGEN STORAGE DISEASE XII (OMIM:611881)
Association type: MENDELIAN
Gene: ALDOA
Disease: Glycogen storage disease due to aldolase A deficiency; GSD due to aldolase A deficiency; GSD type 12; GSD type XII; Glycogen storage disease type 12; Glycogen storage disease type XII; Glycogenosis due to aldolase A deficiency; Glycogenosis type 12; Glycogenosis type XII (ORPHA:57)
Association type: UNKNOWN
Gene: UNC93B1
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1 (OMIM:610551)
Association type: POLYGENIC
Gene: UNC93B1
Disease: Herpes simplex virus encephalitis; HSE; HSV encephalitis; HSVE; Herpes simplex meningo-encephalitis; Herpes simplex neuroinvasion; Herpetic encephalitis (ORPHA:1930)
Association type: UNKNOWN
Gene: DNAH11
Disease: CILIARY DYSKINESIA, PRIMARY, 7 (OMIM:611884)
Association type: MENDELIAN
Gene: DNAH11
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: GTF3C3
Disease:  (OMIM:621201)
Association type: MENDELIAN
Gene: SERPINF2
Disease: ALPHA-2-PLASMIN INHIBITOR DEFICIENCY (OMIM:262850)
Association type: MENDELIAN
Gene: SERPINF2
Disease: Congenital alpha2-antiplasmin deficiency (ORPHA:79)
Association type: UNKNOWN
Gene: GLE1
Disease: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE (OMIM:611890)
Association type: MENDELIAN
Gene: GLE1
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 1 (OMIM:253310)
Association type: MENDELIAN
Gene: GLE1
Disease: Arthrogryposis-anterior horn cell disease syndrome; AAHD; Vuopala disease (ORPHA:53696)
Association type: UNKNOWN
Gene: GLE1
Disease: Lethal congenital contracture syndrome type 1; Herva disease; LCCS1; Multiple contracture syndrome, Finnish type (ORPHA:1486)
Association type: UNKNOWN
Gene: GLE1
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: ANG
Disease: AMYOTROPHIC LATERAL SCLEROSIS 9 (OMIM:611895)
Association type: MENDELIAN
Gene: ANG
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: HSD17B4
Disease: D-BIFUNCTIONAL PROTEIN DEFICIENCY (OMIM:261515)
Association type: MENDELIAN
Gene: HSD17B4
Disease: PERRAULT SYNDROME 1 (OMIM:233400)
Association type: MENDELIAN
Gene: HSD17B4
Disease: Bifunctional enzyme deficiency (ORPHA:300)
Association type: UNKNOWN
Gene: HSD17B4
Disease: Perrault syndrome type 2; XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations (ORPHA:642976)
Association type: UNKNOWN
Gene: HSD17B4
Disease: Perrault syndrome type 1; XX gonadal dysgenesis-deafness syndrome-without neurological manifestations (ORPHA:642945)
Association type: UNKNOWN
Gene: BTK
Disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA (OMIM:307200)
Association type: MENDELIAN
Gene: BTK
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: BTK
Disease: AGAMMAGLOBULINEMIA, X-LINKED (OMIM:300755)
Association type: MENDELIAN
Gene: BTK
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: BTK
Disease: X-linked agammaglobulinemia; BTK-deficiency; Bruton type agammaglobulinemia (ORPHA:47)
Association type: UNKNOWN
Gene: BTK
Disease: Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia (ORPHA:632)
Association type: UNKNOWN
Gene: GON4L
Disease:  (OMIM:621212)
Association type: MENDELIAN
Gene: IYD
Disease: THYROID DYSHORMONOGENESIS 4 (OMIM:274800)
Association type: MENDELIAN
Gene: IYD
Disease: Familial thyroid dyshormonogenesis; Thyroid dyshormonogenesis (ORPHA:95716)
Association type: UNKNOWN
Gene: ITPR1
Disease: GILLESPIE SYNDROME (OMIM:206700)
Association type: MENDELIAN
Gene: ITPR1
Disease: SPINOCEREBELLAR ATAXIA 15 (OMIM:606658)
Association type: MENDELIAN
Gene: ITPR1
Disease: SPINOCEREBELLAR ATAXIA 29 (OMIM:117360)
Association type: MENDELIAN
Gene: ITPR1
Disease: Spinocerebellar ataxia type 29; Congenital nonprogressive spinocerebellar ataxia; SCA29 (ORPHA:208513)
Association type: UNKNOWN
Gene: ITPR1
Disease: Spinocerebellar ataxia type 15/16; SCA15/16 (ORPHA:98769)
Association type: UNKNOWN
Gene: ITPR1
Disease: Aniridia-cerebellar ataxia-intellectual disability syndrome; Gillespie syndrome (ORPHA:1065)
Association type: UNKNOWN
Gene: LEF1
Disease:  (OMIM:621224)
Association type: MENDELIAN
Gene: MED16
Disease:  (OMIM:621220)
Association type: MENDELIAN
Gene: TPMT
Disease: THIOPURINES, POOR METABOLISM OF, 1 (OMIM:610460)
Association type: POLYGENIC
Gene: BUB1B
Disease: PREMATURE CHROMATID SEPARATION TRAIT (OMIM:176430)
Association type: MENDELIAN
Gene: BUB1B
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: BUB1B
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Association type: MENDELIAN
Gene: BUB1B
Disease: Mosaic variegated aneuploidy syndrome; Warburton-Anyane-Yeboa syndrome (ORPHA:1052)
Association type: UNKNOWN
Gene: NPHP1
Disease: JOUBERT SYNDROME 4 (OMIM:609583)
Association type: MENDELIAN
Gene: NPHP1
Disease: SENIOR-LOKEN SYNDROME 1 (OMIM:266900)
Association type: MENDELIAN
Gene: NPHP1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: NPHP1
Disease: NEPHRONOPHTHISIS 1 (OMIM:256100)
Association type: MENDELIAN
Gene: NPHP1
Disease: Joubert syndrome with renal defect; JS-R (ORPHA:220497)
Association type: UNKNOWN
Gene: NPHP1
Disease: Senior-Loken syndrome; Nephronophthisis with retinal dystrophy; Renal dysplasia-retinal aplasia syndrome; SLSN (ORPHA:3156)
Association type: UNKNOWN
Gene: NPHP1
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: NPHP1
Disease: Juvenile nephronophthisis (ORPHA:93592)
Association type: UNKNOWN