All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00683 - cancer, breast, familial 114480 - 8102 785 AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CASP8, CDH1, CHEK2, ESR1, HMMR, KRAS, NQO2, PALB2, PHB, PIK3CA, PPM1D, RAD51, RAD54L, RB1CC1, 4 more - -
01671 AT ataxia-telangiectasia (AT) 208900 - 908 167 ATM - autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, predisposition to malignancy, chromosomal breakag; AT cells are abnormally sensitive to killing by ionizing radiation (IR), abnormally resistant to inhibition of DNA synthesis by ionizing radiation
03185 CCDS deficiency, cerebral creatine, syndrome (CCDS) - - 0 0 GAMT, GATM, SLC6A8 - -
05493 CCDS3;GATMD deficiency, cerebral creatine, syndrome, type 3 (CCDS3, arginine-glycine amidinotransferase deficiency (GAMTD)) 612718 AR 38 38 GATM - -
00139 ID intellectual disability (ID) - - 1846 1579 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 536 more - -
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