All diseases

27 entries on 1 page. Showing entries 1 - 27.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01333 ADERM adermatoglyphia (ADERM) 136000 AD - - SMARCAD1 - -
00156 CSS Coffin-Siris syndrome (CSS) - - 285 255 ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX11 - -
05797 CSS11 Coffin-Siris syndrome, type 11 (CSS11) 618779 AD - - SMARCD1 - -
00756 CSS3;MRD15 Coffin-Siris syndrome, type 3 (CSS3, mental retardation, autosomal dominant syndrome, type 15 (MRD15)) 614608 AD - - SMARCB1 - -
01018 CSS4;MRD16 Coffin-Siris syndrome, type 4 (CSS4, mental retardation, autosomal dominant syndrome, type 16 (MRD16)) 614609 AD 2 2 SMARCA4 - -
05386 CSS5 Coffin-Siris syndrome, type 5 (CSS5) 616938 AD - - SMARCE1 - autosomal dominant
05795 CSS8 Coffin-Siris syndrome, type 8 (CSS8) 618362 AR - - SMARCC2 - neurodevelopmental delay, mild to severe intellectual disability, profound speech delay, behavioral abnormalities, muscular hypotonia, feeding disorders in infancy, dysmorphic facial features
05408 FAME epilepsy, myoclonic, familial adult (FAME) - - 69 68 CTNND2, MARCH6, RAPGEF2, SAMD12, STARD7, TNRC6A, YEATS2 - autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course
05587 FAME3;FMCTE3 epilepsy, myoclonic, familial adult, type 3 (FAME3, FMCTE3) 613608 AD - - MARCH6 - autosomal dominant
01196 FY blood group system, Dyffy 110700 AD;AR - - DARC - -
06608 HRZ Huriez syndrome 181600 AD - - SMARCAD1 - -
07009 HYC hydrocephalus - - 13 13 SMARCC1, TRIM71 - -
07008 HYC5 hydrocephalus, congenital, type 5, susceptibility 620241 AD - - SMARCC1 - -
00139 ID intellectual disability (ID) - - 2700 2382 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
02638 meningioma meningioma, familial, susceptibility to 607174 AD 65 65 MN1, NF2, PDGFB, PTEN, SMARCE1, SUFU - -
00309 MLRS malaria, susceptibility to 611162 - 3 1 CD36, CISH, CR1, DARC, FCGR2A, FCGR2B, G6PD, GYPA, GYPB, GYPC, HBB, ICAM1, NOS2, SLC4A1, TIRAP, TNF - -
00157 NCBRS Nicolaides-Baraitser syndrome (NCBRS) 601358 AD 94 62 SMARCA2 - -
05296 OI osteogenesis imperfecta - - 4591 1414 BMP1, CCDC134, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FKBP10, IFITM5, KDELR2, KIF5B, MBTPS2, MESDC2, P3H1, PHLDB1, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1 - -
04672 OI17 osteogenesis imperfecta, type XVII (OI17) 616507 AR 2 2 SPARC - -
00755 RTPS1 tumor, rhabdoid, predisposition syndrome, type 1 (RTPS-1) 609322 - 149 148 SMARCB1 - -
01017 RTPS2 tumor, rhabdoid, predisposition syndrome, type 2 (RTPS-2) 613325 AD 8 8 SMARCA4 - -
06340 SGD2 Specific granule deficiency 2 617475 AR - - SMARCD2 - -
01871 SIOD Schimke immunoosseous dysplasia 242900 AR 1 1 SMARCAL1 - -
06115 SSMG;SRMMD short stature-micrognathia syndrome 617164 AD 1 1 ARCN1 - -
05389 SWNTS Schwannomatosis (SWNTS) - - 89 88 LZTR1, NF2, SMARCB1 - -
00436 SWNTS1 Schwannomatosis, type 1 (SWNTS-1) 162091 - 55 24 SMARCB1 - -
03064 WBCQ1 White blood cell count quantitative trait locus 1 611862 AR - - DARC - -
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