TaoMedAI/RareMedData huggingface dataset:
Gene: POLR3A
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Association type: MENDELIAN
Gene: POLR3A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: POLR3A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: POLR3A
Disease: Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome; Ataxia-delayed dentition-hypomyelination syndrome (ORPHA:137639)
Association type: UNKNOWN
Gene: POLR3A
Disease: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome; 4H syndrome (ORPHA:88637)
Association type: UNKNOWN
Gene: POLR3A
Disease: Odontoleukodystrophy; Dentoleukoencephalopathy; Leukodystrophy with oligodontia (ORPHA:77295)
Association type: UNKNOWN
Gene: POLR3A
Disease: Wiedemann-Rautenstrauch syndrome; Neonatal progeroid syndrome (ORPHA:3455)
Association type: UNKNOWN
Gene: POLR3A
Disease: Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome (ORPHA:447893)
Association type: UNKNOWN
Gene: POLR3A
Disease: Tremor-ataxia-central hypomyelination syndrome; TACH syndrome (ORPHA:447896)
Association type: UNKNOWN
Gene: PANK2
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1 (OMIM:234200)
Association type: MENDELIAN
Gene: PANK2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PANK2
Disease: Atypical pantothenate kinase-associated neurodegeneration; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form; PKAN, atypical form (ORPHA:216873)
Association type: UNKNOWN
Gene: PANK2
Disease: Classic pantothenate kinase-associated neurodegeneration; NBIA1, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; PKAN, classic form (ORPHA:216866)
Association type: UNKNOWN
Gene: HPRT1
Disease: LESCH-NYHAN SYNDROME (OMIM:300322)
Association type: MENDELIAN
Gene: HPRT1
Disease: HYPERURICEMIA, HPRT-RELATED (OMIM:300323)
Association type: MENDELIAN
Gene: HPRT1
Disease: Lesch-Nyhan syndrome; HPRT complete deficiency; HPRT deficiency grade IV; Hypoxanthine guanine phosphoribosyltransferase complete deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV (ORPHA:510)
Association type: UNKNOWN
Gene: HPRT1
Disease: Hypoxanthine guanine phosphoribosyltransferase partial deficiency; HPRT deficiency, grade I; HPRT partial deficiency; HPRT-related gout; HPRT-related hyperuricemia; HPRT1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency; Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I; Kelley-Seegmiller syndrome (ORPHA:79233)
Association type: UNKNOWN
Gene: IRF6
Disease: VAN DER WOUDE SYNDROME 1 (OMIM:119300)
Association type: MENDELIAN
Gene: IRF6
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO (OMIM:608864)
Association type: POLYGENIC
Gene: IRF6
Disease: POPLITEAL PTERYGIUM SYNDROME (OMIM:119500)
Association type: MENDELIAN
Gene: IRF6
Disease: Isolated cleft lip (ORPHA:199302)
Association type: UNKNOWN
Gene: IRF6
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: IRF6
Disease: Van der Woude syndrome; Cleft lip/palate with mucous cysts of lower lip; Lip-pit syndrome; VWS (ORPHA:888)
Association type: UNKNOWN
Gene: IRF6
Disease: Autosomal dominant popliteal pterygium syndrome; Facio-genito-popliteal syndrome; Popliteal web syndrome (ORPHA:1300)
Association type: UNKNOWN
Gene: IRF6
Disease: Cleft lip and alveolus (ORPHA:141291)
Association type: UNKNOWN
Gene: IRF6
Disease: Oligodontia; Selective tooth agenesis (ORPHA:99798)
Association type: UNKNOWN
Gene: NFIX
Disease: SOTOS SYNDROME 2 (OMIM:614753)
Association type: MENDELIAN
Gene: NFIX
Disease: MARSHALL-SMITH SYNDROME (OMIM:602535)
Association type: MENDELIAN
Gene: NFIX
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NFIX
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NFIX
Disease: 19p13.3 microduplication syndrome; Dup(19)(p13.3) (ORPHA:447980)
Association type: UNKNOWN
Gene: NFIX
Disease: Malan overgrowth syndrome; Sotos syndrome 2 (ORPHA:420179)
Association type: UNKNOWN
Gene: NFIX
Disease: Marshall-Smith syndrome; Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome (ORPHA:561)
Association type: UNKNOWN
Gene: CAMTA1
Disease: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION (OMIM:614756)
Association type: MENDELIAN
Gene: CAMTA1
Disease: Non-progressive cerebellar ataxia with intellectual disability (ORPHA:314647)
Association type: UNKNOWN
Gene: CAMTA1
Disease: Epithelioid hemangioendothelioma (ORPHA:157791)
Association type: UNKNOWN
Gene: PCARE
Disease: RETINITIS PIGMENTOSA 54 (OMIM:613428)
Association type: MENDELIAN
Gene: PCARE
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PCARE
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: PGR
Disease: PROGESTERONE RESISTANCE (OMIM:264080)
Association type: MENDELIAN
Gene: FZD2
Disease: OMODYSPLASIA 2 (OMIM:164745)
Association type: MENDELIAN
Gene: FZD2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FZD2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FZD2
Disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Association type: UNKNOWN
Gene: FZD2
Disease: Autosomal dominant omodysplasia (ORPHA:93328)
Association type: UNKNOWN
Gene: ARSL
Disease: CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE (OMIM:302950)
Association type: MENDELIAN
Gene: ARSL
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ARSL
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ARSL
Disease: Brachytelephalangic chondrodysplasia punctata (ORPHA:79345)
Association type: UNKNOWN
Gene: PCBD1
Disease: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D (OMIM:264070)
Association type: MENDELIAN
Gene: PCBD1
Disease: Pterin-4 alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia due to dehydratase deficiency; Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency; Hyperphenylalaninemia with primapterinuria (ORPHA:1578)
Association type: UNKNOWN
Gene: OPTN
Disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Association type: MENDELIAN
Gene: OPTN
Disease: GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (OMIM:606657)
Association type: POLYGENIC
Gene: OPTN
Disease: GLAUCOMA, PRIMARY OPEN ANGLE (OMIM:137760)
Association type: MENDELIAN
Gene: OPTN
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: SHANK2
Disease: AUTISM, SUSCEPTIBILITY TO, 17 (OMIM:613436)
Association type: POLYGENIC
Gene: HMX1
Disease: OCULOAURICULAR SYNDROME (OMIM:612109)
Association type: MENDELIAN
Gene: HMX1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: HMX1
Disease: Oculoauricular syndrome, Schorderet type (ORPHA:157962)
Association type: UNKNOWN
Gene: MEF2C
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
Association type: MENDELIAN
Gene: MEF2C
Disease: 5q14.3 microdeletion syndrome; Del(5)(q14.3); Monosomy 5q14.3 (ORPHA:228384)
Association type: UNKNOWN
Gene: MEF2C
Disease: Complete atrioventricular septal defect without ventricular hypoplasia; Balanced complete atrioventricular canal; CAVC without ventricular hypoplasia; Complete AVSD without ventricular hypoplasia; Complete atrioventricular canal defect without ventricular hypoplasia; Complete atrioventricular septal defect with balanced ventricles (ORPHA:576227)
Association type: UNKNOWN
Gene: MEF2C
Disease: Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation (ORPHA:664416)
Association type: UNKNOWN
Gene: CFAP53
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL (OMIM:614779)
Association type: MENDELIAN
Gene: CFAP53
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: CFAP53
Disease: Situs inversus totalis; Complete situs inversus; Complete situs inversus viscerum; Situs inversus (ORPHA:101063)
Association type: UNKNOWN
Gene: CFAP53
Disease: Situs ambiguus; Incomplete situs inversus; Partial situs inversus; Situs ambiguous (ORPHA:157769)
Association type: UNKNOWN
Gene: TREH
Disease: TREHALASE DEFICIENCY (OMIM:612119)
Association type: MENDELIAN
Gene: TREH
Disease: Trehalase deficiency; Isolated trehalose intolerance (ORPHA:103909)
Association type: UNKNOWN
Gene: IL2RA
Disease: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:606367)
Association type: MENDELIAN
Gene: IL2RA
Disease: TYPE 1 DIABETES MELLITUS 10 (OMIM:601942)
Association type: POLYGENIC
Gene: IL2RA
Disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Association type: UNKNOWN
Gene: IL2RA
Disease: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis; Juvenile polyarthritis without rheumatoid factor; Juvenile rheumatoid factor-negative polyarthritis; Rheumatoid factor-negative polyarticular JIA (ORPHA:85408)
Association type: UNKNOWN
Gene: IL2RA
Disease: Immunodeficiency due to CD25 deficiency; Interleukin-2 receptor alpha chain deficiency (ORPHA:169100)
Association type: UNKNOWN
Gene: GIGYF2
Disease: PARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
Association type: POLYGENIC
Gene: GIGYF2
Disease: Hereditary late-onset Parkinson disease; Autosomal dominant late-onset Parkinson disease; LOPD (ORPHA:411602)
Association type: UNKNOWN
Gene: RAD54B
Disease: LYMPHOMA, NON-HODGKIN, FAMILIAL (OMIM:605027)
Association type: MENDELIAN
Gene: RAD54B
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: CASP10
Disease: LYMPHOMA, NON-HODGKIN, FAMILIAL (OMIM:605027)
Association type: MENDELIAN
Gene: CASP10
Disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA (OMIM:603909)
Association type: MENDELIAN
Gene: CASP10
Disease: GASTRIC CANCER (OMIM:613659)
Association type: MENDELIAN
Gene: CASP10
Disease: Autoimmune lymphoproliferative syndrome; ALPS; Canale-Smith syndrome (ORPHA:3261)
Association type: UNKNOWN
Gene: RAD54L
Disease: LYMPHOMA, NON-HODGKIN, FAMILIAL (OMIM:605027)
Association type: MENDELIAN
Gene: RAD54L
Disease: BREAST CANCER (OMIM:114480)
Association type: POLYGENIC
Gene: RAD54L
Disease: Hereditary breast cancer; Familial breast cancer; Familial breast carcinoma; Hereditary breast carcinoma (ORPHA:227535)
Association type: UNKNOWN
Gene: SERPINB6
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 91 (OMIM:613453)
Association type: MENDELIAN
Gene: SERPINB6
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: CSRP3
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12 (OMIM:612124)
Association type: MENDELIAN
Gene: CSRP3
Disease: CARDIOMYOPATHY, DILATED, 1M (OMIM:607482)
Association type: MENDELIAN
Gene: CSRP3
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: FOXG1
Disease: RETT SYNDROME, CONGENITAL VARIANT (OMIM:613454)
Association type: MENDELIAN
Gene: FOXG1
Disease: FOXG1 syndrome due to intragenic alteration (ORPHA:598164)
Association type: UNKNOWN
Gene: FOXG1
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: FOXG1
Disease: FOXG1 syndrome due to 14q12 microdeletion; Del(14)(q12); Monosomy 14q12 (ORPHA:261144)
Association type: UNKNOWN
Gene: ALX1
Disease: FRONTONASAL DYSPLASIA 3 (OMIM:613456)
Association type: MENDELIAN
Gene: ALX1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ALX1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ALX1
Disease: Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome; ALX1-related frontonasal dysplasia; Frontonasal dysplasia type 3 (ORPHA:306542)
Association type: UNKNOWN
Gene: PDGFRA
Disease: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC (OMIM:607685)
Association type: MENDELIAN
Gene: PDGFRA
Disease: GIST-PLUS SYNDROME (OMIM:175510)
Association type: MENDELIAN
Gene: PDGFRA
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: PDGFRA
Disease: Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement (ORPHA:168947)
Association type: UNKNOWN
Gene: PDGFRA
Disease: Chronic eosinophilic leukemia (ORPHA:168940)
Association type: UNKNOWN
Gene: PDGFRA
Disease: Primary hypereosinophilic syndrome; Clonal hypereosinophilic syndrome; HES-M; HES-N; Neoplastic hypereosinophilic syndrome; Primary HES (ORPHA:314950)
Association type: UNKNOWN
Gene: PDGFRA
Disease: Gastrointestinal stromal tumor; GIST; Gastrointestinal stromal sarcoma (ORPHA:44890)
Association type: UNKNOWN
Gene: PDGFRA
Disease: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality (ORPHA:585877)
Association type: UNKNOWN
Gene: PTH1R
Disease: CHONDRODYSPLASIA, BLOMSTRAND TYPE (OMIM:215045)
Association type: MENDELIAN
Gene: PTH1R
Disease: EIKEN SYNDROME (OMIM:600002)
Association type: MENDELIAN
Gene: PTH1R
Disease: METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE (OMIM:156400)
Association type: MENDELIAN
Gene: PTH1R
Disease: FAILURE OF TOOTH ERUPTION, PRIMARY (OMIM:125350)
Association type: MENDELIAN
Gene: PTH1R
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PTH1R
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PTH1R
Disease: Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Association type: UNKNOWN
Gene: PTH1R
Disease: Blomstrand lethal chondrodysplasia; BLC; BOCD; Blomstrand chondrodysplasia; Blomstrand osteochondrodysplasia; Chondrodysplasia, Blomstrand type (ORPHA:50945)
Association type: UNKNOWN
Gene: PTH1R
Disease: Primary failure of tooth eruption; PFE; Primary retention of teeth (ORPHA:412206)
Association type: UNKNOWN
Gene: PTH1R
Disease: Eiken syndrome (ORPHA:79106)
Association type: UNKNOWN
Gene: PTH1R
Disease: Metaphyseal chondrodysplasia, Jansen type (ORPHA:33067)
Association type: UNKNOWN
Gene: CACNB4
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9 (OMIM:607682)
Association type: POLYGENIC
Gene: CACNB4
Disease: EPISODIC ATAXIA, TYPE 5 (OMIM:613855)
Association type: MENDELIAN
Gene: CACNB4
Disease: Juvenile myoclonic epilepsy; JME; Juvenile myoclonus epilepsy (ORPHA:307)
Association type: UNKNOWN
Gene: CACNB4
Disease: Episodic ataxia type 5 (ORPHA:211067)
Association type: UNKNOWN
Gene: ANGPTL3
Disease: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2 (OMIM:605019)
Association type: MENDELIAN
Gene: EGR2
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D (OMIM:607678)
Association type: MENDELIAN
Gene: EGR2
Disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Association type: MENDELIAN
Gene: EGR2
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE (OMIM:605253)
Association type: MENDELIAN
Gene: EGR2
Disease: Charcot-Marie-Tooth disease type 1D; CMT1D (ORPHA:101084)
Association type: UNKNOWN
Gene: EGR2
Disease: Charcot-Marie-Tooth disease type 4E; Autosomal recessive congenital hypomyelinating neuropathy; CMT4E (ORPHA:99951)
Association type: UNKNOWN
Gene: EGR2
Disease: Dejerine-Sottas syndrome; Charcot-Marie-Tooth disease type 3; HMSN 3; HMSN III; Hereditary motor and sensory neuropathy type 3; Hereditary motor and sensory neuropathy type III (ORPHA:64748)
Association type: UNKNOWN
Gene: MYO6
Disease: DEAFNESS, AUTOSOMAL DOMINANT 22 (OMIM:606346)
Association type: MENDELIAN
Gene: MYO6
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 37 (OMIM:607821)
Association type: MENDELIAN
Gene: MYO6
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: MYO6
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: MYO6
Disease: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome; Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome; Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome; Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome (ORPHA:228012)
Association type: UNKNOWN
Gene: TTC8
Disease: RETINITIS PIGMENTOSA 51 (OMIM:613464)
Association type: MENDELIAN
Gene: TTC8
Disease: BARDET-BIEDL SYNDROME 8 (OMIM:615985)
Association type: MENDELIAN
Gene: TTC8
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TTC8
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: TTC8
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: GCKR
Disease: FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5 (OMIM:613463)
Association type: MENDELIAN
Gene: NFKBIA
Disease: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 (OMIM:612132)
Association type: MENDELIAN
Gene: NFKBIA
Disease: Giant cell glioblastoma (ORPHA:251579)
Association type: UNKNOWN
Gene: NFKBIA
Disease: Gliosarcoma (ORPHA:251576)
Association type: UNKNOWN
Gene: NFKBIA
Disease: Nasopharyngeal carcinoma; NCP; Squamous cell carcinoma of the nasopharynx (ORPHA:150)
Association type: UNKNOWN
Gene: NFKBIA
Disease: Hypohidrotic ectodermal dysplasia with immunodeficiency; Anhidrotic ectodermal dysplasia with immunodeficiency; EDA-ID; HED-ID (ORPHA:98813)
Association type: UNKNOWN
Gene: IRAK4
Disease: IMMUNODEFICIENCY 67 (OMIM:607676)
Association type: MENDELIAN
Gene: IRAK4
Disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Association type: UNKNOWN
Gene: MESP2
Disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Association type: MENDELIAN
Gene: MESP2
Disease: SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE (OMIM:608681)
Association type: MENDELIAN
Gene: MESP2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MESP2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MESP2
Disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Association type: UNKNOWN
Gene: DLL3
Disease: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE (OMIM:277300)
Association type: MENDELIAN
Gene: DLL3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DLL3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DLL3
Disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Association type: UNKNOWN
Gene: PHEX
Disease: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (OMIM:307800)
Association type: MENDELIAN
Gene: PHEX
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PHEX
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PHEX
Disease: X-linked hypophosphatemia; X-linked hypophosphatemic rickets; XLH (ORPHA:89936)
Association type: UNKNOWN
Gene: GPI
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
Association type: MENDELIAN
Gene: GPI
Disease: Hemolytic anemia due to glucophosphate isomerase deficiency (ORPHA:712)
Association type: UNKNOWN
Gene: SPTAN1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Association type: MENDELIAN
Gene: SPTAN1
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Association type: MENDELIAN
Gene: SPTAN1
Disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Association type: MENDELIAN
Gene: SPTAN1
Disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Association type: MENDELIAN
Gene: SPTAN1
Disease:  (ORPHA:697160)
Association type: UNKNOWN
Gene: TNFRSF11B
Disease: PAGET DISEASE OF BONE 5, JUVENILE-ONSET (OMIM:239000)
Association type: MENDELIAN
Gene: TNFRSF11B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TNFRSF11B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TNFRSF11B
Disease: Familial calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CC; Familial CPPD; Familial articular chondrocalcinosis; Hereditary CC; Hereditary articular chondrocalcinosis; Hereditary calcium pyrophosphate deposition (ORPHA:1416)
Association type: UNKNOWN
Gene: TNFRSF11B
Disease: Juvenile Paget disease; Familial osteoectasia; Hereditary hyperphosphatasia; Hyperostosis corticalis deformans juvenilis; JPG (ORPHA:2801)
Association type: UNKNOWN
Gene: PARK7
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:606324)
Association type: MENDELIAN
Gene: PARK7
Disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Association type: UNKNOWN
Gene: PARK7
Disease: Parkinson-dementia complex of Guam; G-PDC; Guam disease; Guam parkinsonism-dementia complex; Lytico-Bodig disease (ORPHA:90020)
Association type: UNKNOWN
Gene: NOD2
Disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1 (OMIM:266600)
Association type: POLYGENIC
Gene: NOD2
Disease: BLAU SYNDROME (OMIM:186580)
Association type: MENDELIAN
Gene: NOD2
Disease: YAO SYNDROME (OMIM:617321)
Association type: POLYGENIC
Gene: NOD2
Disease: Blau syndrome (ORPHA:90340)
Association type: UNKNOWN
Gene: KCNJ5
Disease: LONG QT SYNDROME 13 (OMIM:613485)
Association type: MENDELIAN
Gene: KCNJ5
Disease: HYPERALDOSTERONISM, FAMILIAL, TYPE III (OMIM:613677)
Association type: MENDELIAN
Gene: KCNJ5
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: KCNJ5
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: KCNJ5
Disease: Andersen-Tawil syndrome; Andersen syndrome; LQT7; Long QT syndrome type 7 (ORPHA:37553)
Association type: UNKNOWN
Gene: KCNJ5
Disease: Familial hyperaldosteronism type III; FH-III; FH3; Familial hyperaldosteronism type 3 (ORPHA:251274)
Association type: UNKNOWN
Gene: COG4
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Association type: MENDELIAN
Gene: COG4
Disease: SAUL-WILSON SYNDROME (OMIM:618150)
Association type: MENDELIAN
Gene: COG4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: COG4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN