THBD, thrombomodulin, 7056

N. diseases: 303; N. variants: 23
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2752036
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.600 Biomarker disease GENOMICS_ENGLAND Genetics and outcome of atypical hemolytic uremic syndrome: a nationwide French series comparing children and adults. 23307876 2013
CUI: C2752036
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.600 GeneticVariation disease UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
CUI: C2752036
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.600 GeneticVariation disease UNIPROT Thrombomodulin mutations in atypical hemolytic-uremic syndrome. 19625716 2009
CUI: C2752036
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.600 Biomarker disease GENOMICS_ENGLAND Thrombomodulin mutations in atypical hemolytic-uremic syndrome. 19625716 2009
CUI: C2752036
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.600 SusceptibilityMutation disease CLINVAR