All diseases

9 entries on 1 page. Showing entries 1 - 9.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05973 CDG1CC glycosylation, congenital disorder of, type Icc (CDG1CC) 301031 XLR - - MAGT1 - -
00963 CDG1J glycosylation, congenital disorder of, type Ij (CDG-1J) 608093 AR - - DPAGT1 - -
00964 CMSTA2 myasthenic syndrome, congenital, with tubular aggregates, type 2 (CMSTA-2) 614750 AR 2 1 DPAGT1 - -
06823 CONDCA Neurodegeneration, childhood-onset, with cerebellar atrophy 618276 AR 2 - AGTPBP1 - -
00104 EHT hypertension, essential, susceptibility to (EHT) 145500 Mu 2 388 ADD1, AGT, AGTR1, ATP1B1, CYP3A5, ECE1, GNB3, NOS2, NOS3, PTGIS, RGS5, SELE - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
01123 MRX88 mental retardation, X-linked, type 88 (MRX88) 300852 - - - AGTR2 - -
00254 RTD dysgenesis, renal tubular (RTD) 267430 AR 50 50 ACE, AGT, AGTR1, REN - -
00829 XMEN immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) 300853 XLR - - MAGT1 - X-linked
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