TaoMedAI/RareMedData huggingface dataset:
Gene: ZNF141
Disease: Postaxial polydactyly type A (ORPHA:93334)
Association type: UNKNOWN
Gene: ADCY3
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 (OMIM:617885)
Association type: POLYGENIC
Gene: CSNK1D
Disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 (OMIM:615224)
Association type: MENDELIAN
Gene: CSNK1D
Disease: Familial advanced sleep-phase syndrome; FASPS (ORPHA:164736)
Association type: UNKNOWN
Gene: SOS2
Disease: NOONAN SYNDROME 9 (OMIM:616559)
Association type: MENDELIAN
Gene: SOS2
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: SOS2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SOS2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SOS2
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: ATP5F1A
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (OMIM:615228)
Association type: MENDELIAN
Gene: ATP5F1A
Disease: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A (OMIM:620358)
Association type: MENDELIAN
Gene: ATP5F1A
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22 (OMIM:616045)
Association type: MENDELIAN
Gene: ATP5F1A
Disease: Isolated ATP synthase deficiency; Isolated mitochondrial respiratory chain complex V deficiency (ORPHA:254913)
Association type: UNKNOWN
Gene: TIA1
Disease: WELANDER DISTAL MYOPATHY (OMIM:604454)
Association type: MENDELIAN
Gene: TIA1
Disease: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:619133)
Association type: MENDELIAN
Gene: TIA1
Disease: Distal myopathy, Welander type; WDM (ORPHA:603)
Association type: UNKNOWN
Gene: PLD3
Disease: SPINOCEREBELLAR ATAXIA 46 (OMIM:617770)
Association type: MENDELIAN
Gene: PLD3
Disease: Spinocerebellar ataxia type 46; SCA46 (ORPHA:589522)
Association type: UNKNOWN
Gene: MYLK
Disease: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME (OMIM:249210)
Association type: MENDELIAN
Gene: MYLK
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7 (OMIM:613780)
Association type: MENDELIAN
Gene: MYLK
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: MYLK
Disease: Megacystis-microcolon-intestinal hypoperistalsis syndrome; Berdon syndrome; MMIHS; Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome (ORPHA:2241)
Association type: UNKNOWN
Gene: RUSC2
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61 (OMIM:617773)
Association type: MENDELIAN
Gene: LRIG2
Disease: UROFACIAL SYNDROME 2 (OMIM:615112)
Association type: MENDELIAN
Gene: LRIG2
Disease: Urofacial syndrome; Hydronephrosis-inverted smile syndrome; Inverted smile-neurogenic bladder syndrome; Ochoa facial syndrome; Ochoa syndrome; Partial facial palsy with urinary abnormalities (ORPHA:2704)
Association type: UNKNOWN
Gene: NLRP3
Disease: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION (OMIM:617772)
Association type: MENDELIAN
Gene: NLRP3
Disease: MUCKLE-WELLS SYNDROME (OMIM:191900)
Association type: MENDELIAN
Gene: NLRP3
Disease: CINCA SYNDROME (OMIM:607115)
Association type: MENDELIAN
Gene: NLRP3
Disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Association type: MENDELIAN
Gene: NLRP3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NLRP3
Disease: KERATOENDOTHELIITIS FUGAX HEREDITARIA (OMIM:148200)
Association type: MENDELIAN
Gene: NLRP3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NLRP3
Disease: CINCA syndrome; Chronic infantile neurological cutaneous and articular syndrome; IOMID syndrome; Infantile-onset multisystem inflammatory disease; NOMID syndrome; Neonatal-onset multisystem inflammatory disease; Prieur-Griscelli syndrome (ORPHA:1451)
Association type: UNKNOWN
Gene: NLRP3
Disease: Familial cold urticaria; FCAS; FCU; Familial cold autoinflammatory syndrome (ORPHA:47045)
Association type: UNKNOWN
Gene: NLRP3
Disease: Keratitis fugax hereditaria; KFH; Keratoendotheliitis fugax hereditaria (ORPHA:647815)
Association type: UNKNOWN
Gene: NLRP3
Disease: Muckle-Wells syndrome; Neutrophilic urticaria (ORPHA:575)
Association type: UNKNOWN
Gene: KCNT2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57 (OMIM:617771)
Association type: MENDELIAN
Gene: IL17RC
Disease: CANDIDIASIS, FAMILIAL, 9 (OMIM:616445)
Association type: MENDELIAN
Gene: IL17RC
Disease: Chronic mucocutaneous candidiasis; CMC (ORPHA:1334)
Association type: UNKNOWN
Gene: ALDH1A3
Disease: MICROPHTHALMIA, ISOLATED 8 (OMIM:615113)
Association type: MENDELIAN
Gene: ALDH1A3
Disease: Colobomatous microphthalmia; MAC; Microphthalmia with colobomatous cyst; Microphthalmia-anophthalmia-coloboma syndrome (ORPHA:98938)
Association type: UNKNOWN
Gene: ALDH1A3
Disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Association type: UNKNOWN
Gene: COX15
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6 (OMIM:615119)
Association type: MENDELIAN
Gene: COX15
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1 (OMIM:220110)
Association type: MENDELIAN
Gene: COX15
Disease: Fatal infantile cytochrome C oxidase deficiency; Fatal infantile COX deficiency; Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency (ORPHA:1561)
Association type: UNKNOWN
Gene: MED25
Disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Association type: MENDELIAN
Gene: MED25
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Association type: MENDELIAN
Gene: MED25
Disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Association type: UNKNOWN
Gene: MED25
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: NDP
Disease: NORRIE DISEASE (OMIM:310600)
Association type: MENDELIAN
Gene: NDP
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: NDP
Disease: EXUDATIVE VITREORETINOPATHY 2, X-LINKED (OMIM:305390)
Association type: MENDELIAN
Gene: NDP
Disease: Coats disease; Congenital retinal telangiectasia; Leber miliary aneurysm (ORPHA:190)
Association type: UNKNOWN
Gene: NDP
Disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Association type: UNKNOWN
Gene: NDP
Disease: Retinopathy of prematurity; ROP; Retrolental fibroplasia (ORPHA:90050)
Association type: UNKNOWN
Gene: NDP
Disease: Persistent hyperplastic primary vitreous; Congenital retinal detachment; NCRNA disease; Non-syndromic congenital retinal non-attachment; PFVS; PHPV; Persistent fetal vasculature syndrome (ORPHA:91495)
Association type: UNKNOWN
Gene: NDP
Disease: Norrie disease; Atrophia bulborum hereditaria; Episkopi blindness; Norrie-Warburg disease (ORPHA:649)
Association type: UNKNOWN
Gene: RNU12
Disease: CDAGS SYNDROME (OMIM:603116)
Association type: MENDELIAN
Gene: RNU12
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Association type: MENDELIAN
Gene: RNU12
Disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Association type: UNKNOWN
Gene: RNU12
Disease: Craniosynostosis-anal anomalies-porokeratosis syndrome; CAP syndrome; CDAGS syndrome (ORPHA:85199)
Association type: UNKNOWN
Gene: IFT140
Disease: RETINITIS PIGMENTOSA 80 (OMIM:617781)
Association type: MENDELIAN
Gene: IFT140
Disease:  (OMIM:621164)
Association type: POLYGENIC
Gene: IFT140
Disease:  (OMIM:621180)
Association type: MENDELIAN
Gene: IFT140
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: IFT140
Disease: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY (OMIM:266920)
Association type: MENDELIAN
Gene: IFT140
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IFT140
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IFT140
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: IFT140
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: IFT140
Disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Association type: UNKNOWN
Gene: IFT140
Disease: Saldino-Mainzer syndrome; Conorenal syndrome; Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome (ORPHA:140969)
Association type: UNKNOWN
Gene: IFT140
Disease: Jeune syndrome; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune asphyxiating thoracic dystrophy (ORPHA:474)
Association type: UNKNOWN
Gene: WNK3
Disease: PRIETO X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309610)
Association type: MENDELIAN
Gene: MTHFD1
Disease: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA (OMIM:617780)
Association type: MENDELIAN
Gene: MTHFD1
Disease: NEURAL TUBE DEFECTS, FOLATE-SENSITIVE (OMIM:601634)
Association type: POLYGENIC
Gene: MTHFD1
Disease: Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency; CIMAH; Combined immunodeficiency-megaloblastic anemia with or without hyperhomocysteinemia; Methylenetetrahydrofolate dehydrogenase 1 deficiency (ORPHA:658813)
Association type: UNKNOWN
Gene: CD27
Disease: LYMPHOPROLIFERATIVE SYNDROME 2 (OMIM:615122)
Association type: MENDELIAN
Gene: CD27
Disease: Combined immunodeficiency due to CD27 deficiency; Autosomal recessive lymphoproliferative disease due to CD27 deficiency; CD27 deficiency (ORPHA:238505)
Association type: UNKNOWN
Gene: RFWD3
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP W (OMIM:617784)
Association type: MENDELIAN
Gene: RFWD3
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: KANK2
Disease: NEPHROTIC SYNDROME, TYPE 16 (OMIM:617783)
Association type: MENDELIAN
Gene: KANK2
Disease: PALMOPLANTAR KERATODERMA AND WOOLLY HAIR (OMIM:616099)
Association type: MENDELIAN
Gene: KANK2
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: KANK2
Disease: Woolly hair-palmoplantar keratoderma syndrome; KWWH type IV; Keratoderma with woolly hair type IV; Woolly hair-palmoplantar hyperkeratosis syndrome (ORPHA:420686)
Association type: UNKNOWN
Gene: AGRN
Disease: MYASTHENIC SYNDROME, CONGENITAL, 8 (OMIM:615120)
Association type: MENDELIAN
Gene: AGRN
Disease: MYASTHENIC SYNDROME, CONGENITAL, 10 (OMIM:254300)
Association type: MENDELIAN
Gene: AGRN
Disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Association type: UNKNOWN
Gene: AGRN
Disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Association type: UNKNOWN
Gene: TNFRSF11A
Disease: FAMILIAL EXPANSILE OSTEOLYSIS (OMIM:174810)
Association type: MENDELIAN
Gene: TNFRSF11A
Disease: PAGET DISEASE OF BONE 2, EARLY-ONSET (OMIM:602080)
Association type: POLYGENIC
Gene: TNFRSF11A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TNFRSF11A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TNFRSF11A
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7 (OMIM:612301)
Association type: MENDELIAN
Gene: TNFRSF11A
Disease: Juvenile Paget disease; Familial osteoectasia; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis; JPG (ORPHA:2801)
Association type: UNKNOWN
Gene: TNFRSF11A
Disease: Osteopetrosis-hypogammaglobulinemia syndrome; Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia; Autosomal recessive osteopetrosis type 7 (ORPHA:178389)
Association type: UNKNOWN
Gene: TNFRSF11A
Disease: Adult-onset myasthenia gravis; Adult-onset acquired myasthenia; Adult-onset autoimmune myasthenia gravis (ORPHA:391490)
Association type: UNKNOWN
Gene: TNFRSF11A
Disease: Familial expansile osteolysis; Hereditary expansile polyostotic osteolytic dysplasia; McCabe disease (ORPHA:85195)
Association type: UNKNOWN
Gene: TNFRSF11A
Disease: Dysosteosclerosis (ORPHA:1782)
Association type: UNKNOWN
Gene: IBA57
Disease: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
Association type: MENDELIAN
Gene: IBA57
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 (OMIM:615330)
Association type: MENDELIAN
Gene: IBA57
Disease: Multiple mitochondrial dysfunctions syndrome type 3; IBA57 deficiency; MMDS3 (ORPHA:363424)
Association type: UNKNOWN
Gene: IBA57
Disease: Autosomal recessive spastic paraplegia type 74; SPG74 (ORPHA:468661)
Association type: UNKNOWN
Gene: KMT5B
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51 (OMIM:617788)
Association type: MENDELIAN
Gene: KMT5B
Disease: Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome; KMT5B haploinsufficiency neurodevelopmental disorder (ORPHA:684226)
Association type: UNKNOWN
Gene: CAD
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 (OMIM:616457)
Association type: MENDELIAN
Gene: CAD
Disease: CAD-CDG; CDG syndrome type Iz; CDG-Iz; CDG1Z; Carbohydrate deficient glycoprotein syndrome type Iz; Congenital disorder of glycosylation type 1z (ORPHA:448010)
Association type: UNKNOWN
Gene: YEATS2
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 4 (OMIM:615127)
Association type: MENDELIAN
Gene: YEATS2
Disease: Benign adult familial myoclonic epilepsy; ADCME; Autosomal dominant cortical myoclonus and epilepsy; BAFME; Benign adult familial myoclonus epilepsy; FAME; FCMTE; Familial adult myoclonic epilepsy; Familial cortical myoclonic tremor and epilepsy (ORPHA:86814)
Association type: UNKNOWN
Gene: NAA15
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 (OMIM:617787)
Association type: MENDELIAN
Gene: NAA15
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: NAA15
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: ATP6V1B2
Disease: ZIMMERMANN-LABAND SYNDROME 2 (OMIM:616455)
Association type: MENDELIAN
Gene: ATP6V1B2
Disease: DEAFNESS, CONGENITAL, WITH ONYCHODYSTROPHY, AUTOSOMAL DOMINANT (OMIM:124480)
Association type: MENDELIAN
Gene: ATP6V1B2
Disease: DOORS syndrome; Autosomal recessive deafness-onychodystrophy syndrome; Autosomal recessive hearing loss-onychodystrophy syndrome; DOOR syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome; Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Deafness-onychoosteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome; Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome; Hearing loss-onychoosteodystrophy-intellectual disability syndrome (ORPHA:79500)
Association type: UNKNOWN
Gene: ATP6V1B2
Disease: Autosomal dominant deafness-onychodystrophy syndrome; Autosomal dominant hearing loss-onychodystrophy syndrome; DDOD syndrome (ORPHA:79499)
Association type: UNKNOWN
Gene: ATP6V1B2
Disease: Zimmermann-Laband syndrome; Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome; Laband syndrome (ORPHA:3473)
Association type: UNKNOWN
Gene: DCPS
Disease: AL-RAQAD SYNDROME (OMIM:616459)
Association type: MENDELIAN
Gene: DCPS
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: ELANE
Disease: CYCLIC NEUTROPENIA (OMIM:162800)
Association type: MENDELIAN
Gene: ELANE
Disease: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT (OMIM:202700)
Association type: MENDELIAN
Gene: ELANE
Disease: Cyclic neutropenia (ORPHA:2686)
Association type: UNKNOWN
Gene: ELANE
Disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Association type: UNKNOWN
Gene: TTBK2
Disease: SPINOCEREBELLAR ATAXIA 11 (OMIM:604432)
Association type: MENDELIAN
Gene: TTBK2
Disease: Spinocerebellar ataxia type 11; SCA11 (ORPHA:98767)
Association type: UNKNOWN
Gene: -
Disease: MACULAR DYSTROPHY, RETINAL, 1, NORTH CAROLINA TYPE (OMIM:136550)
Association type: MENDELIAN
Gene: -
Disease: CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL (OMIM:600790)
Association type: MENDELIAN
Gene: -
Disease: SILVER-RUSSELL SYNDROME 1 (OMIM:180860)
Association type: MENDELIAN
Gene: -
Disease: BETA-THALASSEMIA (OMIM:613985)
Association type: MENDELIAN
Gene: -
Disease: BECKWITH-WIEDEMANN SYNDROME (OMIM:130650)
Association type: MENDELIAN
Gene: -
Disease: PRADER-WILLI SYNDROME (OMIM:176270)
Association type: MENDELIAN
Gene: -
Disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Association type: MENDELIAN
Gene: -
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 3 (OMIM:609893)
Association type: MENDELIAN
Gene: -
Disease: WILMS TUMOR 2 (OMIM:194071)
Association type: MENDELIAN
Gene: -
Disease: TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY (OMIM:188740)
Association type: MENDELIAN
Gene: -
Disease: POLYDACTYLY, PREAXIAL II (OMIM:174500)
Association type: MENDELIAN
Gene: GAL
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8 (OMIM:616461)
Association type: MENDELIAN
Gene: EDC3
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 50 (OMIM:616460)
Association type: MENDELIAN
Gene: EDC3
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: ASH1L
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52 (OMIM:617796)
Association type: MENDELIAN
Gene: ASH1L
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: POLR1A
Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE (OMIM:616462)
Association type: MENDELIAN
Gene: POLR1A
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 27 (OMIM:620675)
Association type: MENDELIAN
Gene: POLR1A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: POLR1A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: POLR1A
Disease: Burn-McKeown syndrome; Choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome (ORPHA:1200)
Association type: UNKNOWN
Gene: ZNF408
Disease: RETINITIS PIGMENTOSA 72 (OMIM:616469)
Association type: MENDELIAN
Gene: ZNF408
Disease: EXUDATIVE VITREORETINOPATHY 6 (OMIM:616468)
Association type: MENDELIAN
Gene: ZNF408
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ZNF408
Disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Association type: UNKNOWN
Gene: ZNF408
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: CAMK2B
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Association type: MENDELIAN
Gene: CAMK2B
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: CAMK2A
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 53 (OMIM:617798)
Association type: MENDELIAN
Gene: CAMK2A
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 (OMIM:618095)
Association type: MENDELIAN
Gene: CAMK2A
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: PPM1K
Disease: MAPLE SYRUP URINE DISEASE, MILD VARIANT (OMIM:615135)
Association type: MENDELIAN
Gene: PPM1K
Disease: Intermediate maple syrup urine disease; Intermediate BCKD deficiency; Intermediate MSUD; Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency (ORPHA:268162)
Association type: UNKNOWN
Gene: CSF3R
Disease: NEUTROPHILIA, HEREDITARY (OMIM:162830)
Association type: MENDELIAN
Gene: CSF3R
Disease: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE (OMIM:617014)
Association type: MENDELIAN
Gene: CSF3R
Disease: Atypical chronic myeloid leukemia; Subacute myeloid leukemia (ORPHA:98824)
Association type: UNKNOWN
Gene: CSF3R
Disease: Chronic neutrophilic leukemia (ORPHA:86829)
Association type: UNKNOWN
Gene: CSF3R
Disease: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency (ORPHA:420702)
Association type: UNKNOWN
Gene: CSF3R
Disease: Hereditary neutrophilia (ORPHA:279943)
Association type: UNKNOWN
Gene: BCAM
Disease: BLOOD GROUP--LUTHERAN SYSTEM (OMIM:111200)
Association type: MENDELIAN
Gene: BCAM
Disease: LUTHERAN NULL (OMIM:247420)
Association type: MENDELIAN
Gene: COL12A1
Disease: BETHLEM MYOPATHY 2 (OMIM:616471)
Association type: MENDELIAN
Gene: COL12A1
Disease: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 (OMIM:616470)
Association type: MENDELIAN
Gene: COL12A1
Disease: Ullrich congenital muscular dystrophy; UCMD; Ullrich scleroatonic muscular dystrophy (ORPHA:75840)
Association type: UNKNOWN
Gene: COL12A1
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: COL12A1
Disease: Myopathic Ehlers-Danlos syndrome; EDS/myopathy overlap syndrome; Myopathic EDS (ORPHA:536516)
Association type: UNKNOWN
Gene: TENM3
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Association type: MENDELIAN
Gene: TENM3
Disease: Colobomatous microphthalmia; MAC; Microphthalmia with colobomatous cyst; Microphthalmia-anophthalmia-coloboma syndrome (ORPHA:98938)
Association type: UNKNOWN
Gene: RNASEH1
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (OMIM:616479)
Association type: MENDELIAN
Gene: RNASEH1
Disease: Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy; Adult-onset CPEO with mitochondrial myopathy (ORPHA:329336)
Association type: UNKNOWN
Gene: NKX2-5
Disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (OMIM:225250)
Association type: MENDELIAN
Gene: NKX2-5
Disease: CONOTRUNCAL HEART MALFORMATIONS (OMIM:217095)
Association type: MENDELIAN
Gene: NKX2-5
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: NKX2-5
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: NKX2-5
Disease: VENTRICULAR SEPTAL DEFECT 3 (OMIM:614432)
Association type: MENDELIAN
Gene: NKX2-5
Disease: HYPOPLASTIC LEFT HEART SYNDROME 2 (OMIM:614435)
Association type: MENDELIAN
Gene: NKX2-5
Disease: ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS (OMIM:108900)
Association type: MENDELIAN
Gene: NKX2-5
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: NKX2-5
Disease: Atrial septal defect-atrioventricular conduction defects syndrome (ORPHA:1479)
Association type: UNKNOWN
Gene: NKX2-5
Disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Association type: UNKNOWN
Gene: NKX2-5
Disease: Tetralogy of Fallot (ORPHA:3303)
Association type: UNKNOWN
Gene: NKX2-5
Disease: Familial progressive cardiac conduction defect; Familial Lenègre disease; Familial Lev disease; Familial Lev-Lenègre disease; Familial PCCD; Familial progressive heart block; Hereditary bundle branch defect (ORPHA:871)
Association type: UNKNOWN
Gene: NKX2-5
Disease: Athyreosis (ORPHA:95713)
Association type: UNKNOWN
Gene: NKX2-5
Disease: Thyroid ectopia (ORPHA:95712)
Association type: UNKNOWN
Gene: NKX2-5
Disease: Familial isolated congenital asplenia (ORPHA:101351)
Association type: UNKNOWN
Gene: NKX2-5
Disease: Deletion 5q35 syndrome; Del (5)(q35); Del (5)(qter); Distal 5q deletion; Monosomy 5q35; Telomeric deletion 5q (ORPHA:1627)
Association type: UNKNOWN
Gene: NKX2-5
Disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Association type: UNKNOWN
Gene: NKX2-5
Disease: Hypoplastic left heart syndrome; HLHS (ORPHA:2248)
Association type: UNKNOWN
Gene: RBP4
Disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Association type: MENDELIAN
Gene: RBP4
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 (OMIM:616428)
Association type: MENDELIAN
Gene: RBP4
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RBP4
Disease: Colobomatous microphthalmia; MAC; Microphthalmia with colobomatous cyst; Microphthalmia-anophthalmia-coloboma syndrome (ORPHA:98938)
Association type: UNKNOWN