All diseases

9 entries on 1 page. Showing entries 1 - 9.
Legend   How to query  

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00138 autism autism 209850 - 248 438 MAGEL2 - -
05696 BARTS Bartter syndrome (BARTS) - - 52 51 KCNJ1, MAGED2 - -
05697 BARTS5 Bartter syndrome, type 5, antenatal, transient (BARTS5) 300971 XLR - - MAGED2 - -
05973 CDG1CC glycosylation, congenital disorder of, type Icc (CDG1CC) 301031 XLR - - MAGT1 - -
00139 ID intellectual disability (ID) - - 2706 2388 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
06743 NPHS15 Nephrotic syndrome, type 15 617609 AR - - MAGI2 - -
03999 SHFYNG Schaaf-Yang syndrome (SHFYNG) 615547 AD 11 11 MAGEL2 - autosomal dominant
06407 SPG75 Spastic paraplegia 75, autosomal recessive 616680 AR - - MAG - -
00829 XMEN immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (XMEN) 300853 XLR - - MAGT1 - X-linked
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.