TaoMedAI/RareMedData huggingface dataset:
Gene: PDZD7
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 57 (OMIM:618003)
Association type: MENDELIAN
Gene: PDZD7
Disease: USHER SYNDROME, TYPE IIC (OMIM:605472)
Association type: MENDELIAN
Gene: PDZD7
Disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Association type: UNKNOWN
Gene: SCN5A
Disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA (OMIM:113900)
Association type: MENDELIAN
Gene: SCN5A
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: SCN5A
Disease: SUDDEN INFANT DEATH SYNDROME (OMIM:272120)
Association type: POLYGENIC
Gene: SCN5A
Disease: SICK SINUS SYNDROME 1 (OMIM:608567)
Association type: MENDELIAN
Gene: SCN5A
Disease: ATRIAL FIBRILLATION, FAMILIAL, 10 (OMIM:614022)
Association type: MENDELIAN
Gene: SCN5A
Disease: LONG QT SYNDROME 3 (OMIM:603830)
Association type: MENDELIAN
Gene: SCN5A
Disease: VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1 (OMIM:603829)
Association type: MENDELIAN
Gene: SCN5A
Disease: CARDIOMYOPATHY, DILATED, 1E (OMIM:601154)
Association type: MENDELIAN
Gene: SCN5A
Disease: BRUGADA SYNDROME 1 (OMIM:601144)
Association type: MENDELIAN
Gene: SCN5A
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: SCN5A
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: SCN5A
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: SCN5A
Disease: Idiopathic ventricular fibrillation, non Brugada type; Familial paroxysmal ventricular fibrillation, non Brugada type (ORPHA:228140)
Association type: UNKNOWN
Gene: SCN5A
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: SCN5A
Disease: Familial sick sinus syndrome (ORPHA:166282)
Association type: UNKNOWN
Gene: SCN5A
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: SCN5A
Disease: Atrial standstill; Atrial cardiomyopathy with heart block (ORPHA:1344)
Association type: UNKNOWN
Gene: CLRN1
Disease: USHER SYNDROME, TYPE IIIA (OMIM:276902)
Association type: MENDELIAN
Gene: CLRN1
Disease: RETINITIS PIGMENTOSA 61 (OMIM:614180)
Association type: MENDELIAN
Gene: CLRN1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CLRN1
Disease: RETINITIS PIGMENTOSA (OMIM:268000)
Association type: MENDELIAN
Gene: CLRN1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: CLRN1
Disease: Usher syndrome type 3; USH3 (ORPHA:231183)
Association type: UNKNOWN
Gene: RBMX
Disease: MENTAL RETARDATION WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES (OMIM:309555)
Association type: MENDELIAN
Gene: RBMX
Disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC 11 (OMIM:300238)
Association type: MENDELIAN
Gene: RBMX
Disease: X-linked intellectual disability, Shashi type; Syndromic X-linked intellectual disability type 11 (ORPHA:85286)
Association type: UNKNOWN
Gene: RBMX
Disease: Severe X-linked intellectual disability, Gustavson type (ORPHA:3078)
Association type: UNKNOWN
Gene: AKT2
Disease: HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY (OMIM:240900)
Association type: MENDELIAN
Gene: AKT2
Disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Association type: MENDELIAN
Gene: AKT2
Disease: Hypoinsulinemic hypoglycemia and body hemihypertrophy (ORPHA:293964)
Association type: UNKNOWN
Gene: AKT2
Disease: AKT2-related familial partial lipodystrophy; AKT2-related FPLD (ORPHA:79085)
Association type: UNKNOWN
Gene: ASIP
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9 (OMIM:611742)
Association type: MENDELIAN
Gene: ERBB3
Disease: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE (OMIM:243180)
Association type: MENDELIAN
Gene: ERBB3
Disease: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO (OMIM:133180)
Association type: POLYGENIC
Gene: ERBB3
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 2 (OMIM:607598)
Association type: MENDELIAN
Gene: ERBB3
Disease: Hirschsprung disease; Aganglionic megacolon; Colonic aganglionosis; Congenital intestinal aganglionosis; HSCR (ORPHA:388)
Association type: UNKNOWN
Gene: ERBB3
Disease: Lethal congenital contracture syndrome type 2; LCCS2; Multiple contracture syndrome, Israeli-Bedouin type (ORPHA:137776)
Association type: UNKNOWN
Gene: TWIST1
Disease: ROBINOW-SORAUF SYNDROME (OMIM:180750)
Association type: MENDELIAN
Gene: TWIST1
Disease: SWEENEY-COX SYNDROME (OMIM:617746)
Association type: MENDELIAN
Gene: TWIST1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TWIST1
Disease: SAETHRE-CHOTZEN SYNDROME (OMIM:101400)
Association type: MENDELIAN
Gene: TWIST1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TWIST1
Disease: CRANIOSYNOSTOSIS 1 (OMIM:123100)
Association type: MENDELIAN
Gene: TWIST1
Disease: Non-syndromic sagittal craniosynostosis; Isolated sagittal craniosynostosis; Isolated scaphocephaly; Non-syndromic sagittal suture synostosis (ORPHA:35093)
Association type: UNKNOWN
Gene: TWIST1
Disease: Non-syndromic bicoronal craniosynostosis; Isolated bicoronal craniosynostosis; Isolated brachycephaly; Non-syndromic bilateral coronal suture synostosis (ORPHA:35099)
Association type: UNKNOWN
Gene: TWIST1
Disease: Saethre-Chotzen syndrome; ACS3; Acrocephalosyndactyly type 3; SCS (ORPHA:794)
Association type: UNKNOWN
Gene: MEFV
Disease: NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE (OMIM:608068)
Association type: MENDELIAN
Gene: MEFV
Disease: FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT (OMIM:134610)
Association type: MENDELIAN
Gene: MEFV
Disease: FAMILIAL MEDITERRANEAN FEVER (OMIM:249100)
Association type: MENDELIAN
Gene: MEFV
Disease: Familial Mediterranean fever; Benign paroxysmal peritonitis; Benign recurrent polyserositis; FMF; Familial paroxysmal polyserositis; Periodic disease (ORPHA:342)
Association type: UNKNOWN
Gene: MEFV
Disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Association type: UNKNOWN
Gene: MEFV
Disease: Intermittent hydrarthrosis (ORPHA:329967)
Association type: UNKNOWN
Gene: MEFV
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: S1PR2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 68 (OMIM:610419)
Association type: MENDELIAN
Gene: S1PR2
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: COL17A1
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Association type: MENDELIAN
Gene: COL17A1
Disease: EPITHELIAL RECURRENT EROSION DYSTROPHY (OMIM:122400)
Association type: MENDELIAN
Gene: COL17A1
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 4, INTERMEDIATE (OMIM:619787)
Association type: MENDELIAN
Gene: COL17A1
Disease: Late-onset junctional epidermolysis bullosa; Epidermolysis bullosa progressiva; JEB-lo; Late-onset JEB (ORPHA:79406)
Association type: UNKNOWN
Gene: COL17A1
Disease: Intermediate generalized junctional epidermolysis bullosa; Generalized atrophic benign epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Intermediate generalized JEB; Junctional epidermolysis bullosa generalisata mitis; Junctional epidermolysis bullosa, Disentis type (ORPHA:79402)
Association type: UNKNOWN
Gene: COL17A1
Disease: Localized junctional epidermolysis bullosa; JEB-nH loc; Junctional epidermolysis bullosa, non-Herlitz localized type; Localized JEB (ORPHA:251393)
Association type: UNKNOWN
Gene: COL17A1
Disease: Epithelial recurrent erosion dystrophy; Dystrophia Helsinglandica; Dystrophia Smolandiensis; ERED; Recurrent hereditary corneal erosions (ORPHA:293381)
Association type: UNKNOWN
Gene: LAMB3
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE (OMIM:226650)
Association type: MENDELIAN
Gene: LAMB3
Disease: EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE (OMIM:226700)
Association type: MENDELIAN
Gene: LAMB3
Disease: AMELOGENESIS IMPERFECTA, TYPE IA (OMIM:104530)
Association type: MENDELIAN
Gene: LAMB3
Disease: Severe generalized junctional epidermolysis bullosa; Epidermolysis bullosa letalis; JEB-H; Junctional epidermolysis bullosa generalisata gravis; Junctional epidermolysis bullosa, Herlitz type; Junctional epidermolysis bullosa, Herlitz-Pearson type; Severe generalized JEB (ORPHA:79404)
Association type: UNKNOWN
Gene: LAMB3
Disease: Intermediate generalized junctional epidermolysis bullosa; Generalized atrophic benign epidermolysis bullosa; Generalized junctional epidermolysis bullosa, non-Herlitz type; Intermediate generalized JEB; Junctional epidermolysis bullosa generalisata mitis; Junctional epidermolysis bullosa, Disentis type (ORPHA:79402)
Association type: UNKNOWN
Gene: LAMB3
Disease: Hypoplastic amelogenesis imperfecta; Amelogenesis imperfecta type 1 (ORPHA:100031)
Association type: UNKNOWN
Gene: COL1A2
Disease: EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR TYPE (OMIM:225320)
Association type: MENDELIAN
Gene: COL1A2
Disease: EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2 (OMIM:617821)
Association type: MENDELIAN
Gene: COL1A2
Disease: OSTEOPOROSIS (OMIM:166710)
Association type: POLYGENIC
Gene: COL1A2
Disease: COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2 (OMIM:619120)
Association type: MENDELIAN
Gene: COL1A2
Disease: OSTEOGENESIS IMPERFECTA, TYPE III (OMIM:259420)
Association type: MENDELIAN
Gene: COL1A2
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: COL1A2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: COL1A2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: COL1A2
Disease: OSTEOGENESIS IMPERFECTA, TYPE II (OMIM:166210)
Association type: MENDELIAN
Gene: COL1A2
Disease: OSTEOGENESIS IMPERFECTA, TYPE IV (OMIM:166220)
Association type: MENDELIAN
Gene: COL1A2
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: COL1A2
Disease: High bone mass osteogenesis imperfecta; High bone mass OI (ORPHA:314029)
Association type: UNKNOWN
Gene: COL1A2
Disease: Osteogenesis imperfecta type 3; OI type 3; Progressive deforming osteogenesis imperfecta; Severe osteogenesis imperfecta (ORPHA:216812)
Association type: UNKNOWN
Gene: COL1A2
Disease: Osteogenesis imperfecta type 2; Lethal osteogenesis imperfecta; OI type 2 (ORPHA:216804)
Association type: UNKNOWN
Gene: COL1A2
Disease: Osteogenesis imperfecta type 4; OI type 4 (ORPHA:216820)
Association type: UNKNOWN
Gene: COL1A2
Disease: Osteogenesis imperfecta type 1; Adair-Dighton syndrome; Mild osteogenesis imperfecta; Non-deforming osteogenesis imperfecta; OI type 1; Van der Hoeve syndrome (ORPHA:216796)
Association type: UNKNOWN
Gene: COL1A2
Disease: Arthrochalasia Ehlers-Danlos syndrome; Arthrochalasia EDS; Arthrochalasis multiplex congenita; EDS VII; Ehlers-Danlos syndrome type 7; Ehlers-Danlos syndrome, arthrochalasia type; aEDS (ORPHA:1899)
Association type: UNKNOWN
Gene: COL1A2
Disease: Cardiac-valvular Ehlers-Danlos syndrome; Cardiac-valvular EDS; cvEDS (ORPHA:230851)
Association type: UNKNOWN
Gene: COL1A2
Disease: Ehlers-Danlos/osteogenesis imperfecta syndrome; EDS/OI syndrome (ORPHA:230857)
Association type: UNKNOWN
Gene: MYC
Disease: BURKITT LYMPHOMA (OMIM:113970)
Association type: MENDELIAN
Gene: MYC
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: MYC
Disease: High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement (ORPHA:480541)
Association type: UNKNOWN
Gene: MYC
Disease: Burkitt lymphoma; Small non-cleaved cell lymphoma (ORPHA:543)
Association type: UNKNOWN
Gene: PROM1
Disease: MACULAR DYSTROPHY, RETINAL, 2 (OMIM:608051)
Association type: MENDELIAN
Gene: PROM1
Disease: CONE-ROD DYSTROPHY 12 (OMIM:612657)
Association type: MENDELIAN
Gene: PROM1
Disease: RETINITIS PIGMENTOSA 41 (OMIM:612095)
Association type: MENDELIAN
Gene: PROM1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PROM1
Disease: STARGARDT DISEASE 4 (OMIM:603786)
Association type: MENDELIAN
Gene: PROM1
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: PROM1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: PROM1
Disease: Stargardt disease; Fundus flavimaculatus; Stargardt 1 (ORPHA:827)
Association type: UNKNOWN
Gene: PROM1
Disease: Retinal macular dystrophy type 2; MCDR2 (ORPHA:319640)
Association type: UNKNOWN
Gene: MED12
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE (OMIM:309520)
Association type: MENDELIAN
Gene: MED12
Disease: HARDIKAR SYNDROME (OMIM:301068)
Association type: MENDELIAN
Gene: MED12
Disease: OHDO SYNDROME, X-LINKED (OMIM:300895)
Association type: MENDELIAN
Gene: MED12
Disease: OPITZ-KAVEGGIA SYNDROME (OMIM:305450)
Association type: MENDELIAN
Gene: MED12
Disease: Hardikar syndrome; Cholestasis-pigmentary retinopathy-cleft palate syndrome; HDKR; MED12-related Hardikar syndrome (ORPHA:1415)
Association type: UNKNOWN
Gene: MED12
Disease: FG syndrome type 1; Opitz-Kaveggia syndrome (ORPHA:93932)
Association type: UNKNOWN
Gene: MED12
Disease: Blepharophimosis-intellectual disability syndrome, MKB type; BMRS, MKB type; BMRS, Maat-Kievit-Brunner type; Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type; X-linked Ohdo syndrome (ORPHA:293707)
Association type: UNKNOWN
Gene: MED12
Disease: Lujan-Fryns syndrome; X-linked intellectual disability with marfanoid habitus (ORPHA:776)
Association type: UNKNOWN
Gene: MED12
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: IL10RB
Disease: HEPATITIS B VIRUS, SUSCEPTIBILITY TO (OMIM:610424)
Association type: POLYGENIC
Gene: IL10RB
Disease: INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE (OMIM:612567)
Association type: MENDELIAN
Gene: IL10RB
Disease: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome; IL10-related early-onset IBD; IL10-related early-onset inflammatory bowel disease (ORPHA:238569)
Association type: UNKNOWN
Gene: IFNGR1
Disease: HEPATITIS B VIRUS, SUSCEPTIBILITY TO (OMIM:610424)
Association type: POLYGENIC
Gene: IFNGR1
Disease: IMMUNODEFICIENCY 27A (OMIM:209950)
Association type: MENDELIAN
Gene: IFNGR1
Disease: IMMUNODEFICIENCY 27B (OMIM:615978)
Association type: MENDELIAN
Gene: IFNGR1
Disease: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (OMIM:607948)
Association type: POLYGENIC
Gene: IFNGR1
Disease: HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO (OMIM:600263)
Association type: POLYGENIC
Gene: IFNGR1
Disease: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency; MSMD due to complete IFNgammaR1 deficiency; MSMD due to complete interferon gamma receptor 1 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency (ORPHA:99898)
Association type: UNKNOWN
Gene: IFNGR1
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: IFNGR1
Disease: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency; Autosomal recessive MSMD due to partial IFNgammaR1 deficiency; Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency; Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency (ORPHA:319569)
Association type: UNKNOWN
Gene: IFNGR1
Disease: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency; Autosomal dominant MSMD due to partial IFNgammaR1 deficiency; Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency; Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency (ORPHA:319581)
Association type: UNKNOWN
Gene: IFNAR2
Disease: HEPATITIS B VIRUS, SUSCEPTIBILITY TO (OMIM:610424)
Association type: POLYGENIC
Gene: IFNAR2
Disease: IMMUNODEFICIENCY 45 (OMIM:616669)
Association type: MENDELIAN
Gene: IFNAR2
Disease: Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection; Primary immunodeficiency with post-MMR vaccine viral infection (ORPHA:431166)
Association type: UNKNOWN
Gene: CEP290
Disease: LEBER CONGENITAL AMAUROSIS 10 (OMIM:611755)
Association type: MENDELIAN
Gene: CEP290
Disease: JOUBERT SYNDROME 5 (OMIM:610188)
Association type: MENDELIAN
Gene: CEP290
Disease: SENIOR-LOKEN SYNDROME 6 (OMIM:610189)
Association type: MENDELIAN
Gene: CEP290
Disease: BARDET-BIEDL SYNDROME 14 (OMIM:615991)
Association type: MENDELIAN
Gene: CEP290
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CEP290
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CEP290
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CEP290
Disease: MECKEL SYNDROME, TYPE 4 (OMIM:611134)
Association type: MENDELIAN
Gene: CEP290
Disease: Senior-Loken syndrome; Nephronophthisis with retinal dystrophy; Renal dysplasia-retinal aplasia syndrome; SLSN (ORPHA:3156)
Association type: UNKNOWN
Gene: CEP290
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: CEP290
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: CEP290
Disease: Joubert syndrome with oculorenal defect; Arima syndrome; CORS; Cerebellooculorenal syndrome; Dekaban-Arima syndrome; JS type B; JS-OR; Joubert syndrome with Senior-Loken syndrome (ORPHA:2318)
Association type: UNKNOWN
Gene: CEP290
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: CRYBA4
Disease: CATARACT 23, MULTIPLE TYPES (OMIM:610425)
Association type: MENDELIAN
Gene: CRYBA4
Disease: Cataract-microcornea syndrome (ORPHA:1377)
Association type: UNKNOWN
Gene: CRYBA4
Disease: Early-onset lamellar cataract (ORPHA:441452)
Association type: UNKNOWN
Gene: CABP4
Disease: CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE (OMIM:610427)
Association type: MENDELIAN
Gene: CABP4
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CABP4
Disease: Congenital stationary night blindness; Congenital essential nyctalopia (ORPHA:215)
Association type: UNKNOWN
Gene: CABP4
Disease: Autosomal dominant nocturnal frontal lobe epilepsy; ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy (ORPHA:98784)
Association type: UNKNOWN
Gene: NAGS
Disease: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY (OMIM:237310)
Association type: MENDELIAN
Gene: NAGS
Disease: Hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency (ORPHA:927)
Association type: UNKNOWN
Gene: EDARADD
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Association type: MENDELIAN
Gene: EDARADD
Disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Association type: MENDELIAN
Gene: EDARADD
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT (OMIM:614940)
Association type: MENDELIAN
Gene: EDARADD
Disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:614941)
Association type: MENDELIAN
Gene: EDARADD
Disease: Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED; Autosomal recessive anhidrotic ectodermal dysplasia (ORPHA:248)
Association type: UNKNOWN
Gene: EDARADD
Disease: Autosomal dominant hypohidrotic ectodermal dysplasia; AD-HED; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Association type: UNKNOWN
Gene: EDARADD
Disease: Oligodontia; Selective tooth agenesis (ORPHA:99798)
Association type: UNKNOWN
Gene: EDAR
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT (OMIM:129490)
Association type: MENDELIAN
Gene: EDAR
Disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE (OMIM:224900)
Association type: MENDELIAN
Gene: EDAR
Disease: HAIR MORPHOLOGY 1 (OMIM:612630)
Association type: MENDELIAN
Gene: EDAR
Disease: Autosomal recessive hypohidrotic ectodermal dysplasia; AR-HED; Autosomal recessive anhidrotic ectodermal dysplasia (ORPHA:248)
Association type: UNKNOWN
Gene: EDAR
Disease: Autosomal dominant hypohidrotic ectodermal dysplasia; AD-HED; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Association type: UNKNOWN
Gene: GYPA
Disease: BLOOD GROUP, MN (OMIM:111300)
Association type: MENDELIAN
Gene: GYPA
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: MBTPS2
Disease: IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME (OMIM:308205)
Association type: MENDELIAN
Gene: MBTPS2
Disease: OLMSTED SYNDROME, X-LINKED (OMIM:300918)
Association type: MENDELIAN
Gene: MBTPS2
Disease: KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED (OMIM:308800)
Association type: MENDELIAN
Gene: MBTPS2
Disease: OSTEOGENESIS IMPERFECTA, TYPE XIX (OMIM:301014)
Association type: MENDELIAN
Gene: MBTPS2
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: MBTPS2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MBTPS2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MBTPS2
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: MBTPS2
Disease: BRESEK syndrome; BRESHECK syndrome (ORPHA:85284)
Association type: UNKNOWN
Gene: MBTPS2
Disease: Osteogenesis imperfecta type 3; OI type 3; Progressive deforming osteogenesis imperfecta; Severe osteogenesis imperfecta (ORPHA:216812)
Association type: UNKNOWN
Gene: MBTPS2
Disease: Osteogenesis imperfecta type 4; OI type 4 (ORPHA:216820)
Association type: UNKNOWN
Gene: MBTPS2
Disease: Osteogenesis imperfecta type 1; Adair-Dighton syndrome; Mild osteogenesis imperfecta; Non-deforming osteogenesis imperfecta; OI type 1; Van der Hoeve syndrome (ORPHA:216796)
Association type: UNKNOWN
Gene: MBTPS2
Disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Association type: UNKNOWN
Gene: MBTPS2
Disease: Mutilating palmoplantar keratoderma with periorificial keratotic plaques; Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques; Olmsted syndrome; Palmoplantar and periorificial keratoderma (ORPHA:659)
Association type: UNKNOWN
Gene: MBTPS2
Disease: Ichthyosis follicularis-alopecia-photophobia syndrome; IFAP syndrome; Ichthyosis follicularis-atrichia-photophobia syndrome (ORPHA:2273)
Association type: UNKNOWN
Gene: FLT4
Disease: LYMPHATIC MALFORMATION 1 (OMIM:153100)
Association type: MENDELIAN
Gene: FLT4
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: FLT4
Disease: HEMANGIOMA, CAPILLARY INFANTILE (OMIM:602089)
Association type: MENDELIAN
Gene: FLT4
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: FLT4
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7 (OMIM:618780)
Association type: MENDELIAN
Gene: FLT4
Disease: Milroy disease; Hereditary lymphedema type I; Nonne-Milroy lymphedema (ORPHA:79452)
Association type: UNKNOWN
Gene: FLT4
Disease: Tetralogy of Fallot (ORPHA:3303)
Association type: UNKNOWN
Gene: NLRP12
Disease: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2 (OMIM:611762)
Association type: MENDELIAN
Gene: NLRP12
Disease: NLRP12-associated hereditary periodic fever syndrome; FCAS2; Familial cold autoinflammatory syndrome type 2; NAPS12 (ORPHA:247868)
Association type: UNKNOWN