TERT, telomerase reverse transcriptase, 7015

N. diseases: 703; N. variants: 97
Disease: Dyskeratosis Congenita ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 58 146 0.600 None 1.000 28 32 2005 2019