TERT, telomerase reverse transcriptase, 7015

N. diseases: 72; N. variants: 75
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney
0.310 FusionGene disease ORPHANET BCOR internal tandem duplication and YWHAE-NUTM2B/E fusion are mutually exclusive events in clear cell sarcoma of the kidney. 26493387 2016
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney
0.310 FusionGene disease ORPHANET In line with TERT expression being driven by active IRX2 regulatory elements, we found a high expression of IRX2 in CCSKs irrespective of fusion gene status. 25481751 2015