ATR, ATR serine/threonine kinase, 545

N. diseases: 321; N. variants: 38
Disease: Dyskeratosis Congenita ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		0.010 GeneticVariation disease BEFREE The TIN2(DC) allele induced mild ATR kinase signaling at telomeres and a fragile telomere phenotype, suggestive of telomere replication problems. 24449270 2014