THBD, thrombomodulin, 7056

N. diseases: 303; N. variants: 23
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800578
rs1800578
Entrez Id: 7056
Gene Symbol: THBD
THBD
CUI: C2752036
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation UNIPROT Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom. 19821824 2010
dbSNP: rs1800578
rs1800578
Entrez Id: 7056
Gene Symbol: THBD
THBD
CUI: C2752036
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation UNIPROT Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. 20513133 2010
dbSNP: rs1800578
rs1800578
Entrez Id: 7056
Gene Symbol: THBD
THBD
CUI: C2752036
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation UNIPROT Atypical hemolytic-uremic syndrome. 19846853 2009
dbSNP: rs1800578
rs1800578
Entrez Id: 7056
Gene Symbol: THBD
THBD
CUI: C2752036
Disease:
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation UNIPROT Thrombomodulin mutations in atypical hemolytic-uremic syndrome. 19625716 2009