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
00943 - De Sanctis-Cacchione syndrome 278800 - 0 0 ERCC6 - -
00639 ACLC cancer, lung (adenocarcinoma) 211980 - 11 8 BRAF, CASP8, CYP2A6, DLEC1, EGFR, ERBB2, ERCC6, FASLG, IRF1, KRAS, MAP3K8, PARK2, PIK3CA, PPP2R1B, RASSF1, SFTPA2, SLC22A18 - -
03422 ARMD-5 macular degeneration, age-related, type 5 (ARMD-5) 613761 - 0 0 ERCC6 - -
04059 BMFS-2 bone marrow failure syndrome, type 2 (BMFS-2) 615715 - 0 0 ERCC6L2 - -
00942 COFS-1 cerebrooculofacioskeletal syndrome, type 1 (COFS-1 214150 - 0 0 ERCC6 - -
05595 CS syndrome, Cockayne (CS) - - 9 9 ERCC6, ERCC8 - -
00941 CSB Cockayne syndrome, type B (CSB) 133540 - 0 0 ERCC6 - -
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 - -
02306 UVSS UV-sensitive syndrome (UVSS) 600630 - 1 1 ERCC6 - -
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