ATR, ATR serine/threonine kinase, 545

N. diseases: 321; N. variants: 38
Disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3281203
Disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL 		0.700 GermlineCausalMutation disease ORPHANET Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. 22341969 2012
CUI: C3281203
Disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL 		0.700 GeneticVariation disease UNIPROT Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. 22341969 2012
CUI: C3281203
Disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL 		0.700 Biomarker disease GENOMICS_ENGLAND Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. 2212727 1990
CUI: C3281203
Disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL 		0.700 Biomarker disease CTD_human
CUI: C3281203
Disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3281203
Disease: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL 		0.700 CausalMutation disease CLINVAR