rs122453121, GPC3

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nephroblastoma
CUI: C0027708
Disease: Nephroblastoma
0.700 CausalMutation CLINVAR Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. 24459012 2014
Nephroblastoma
CUI: C0027708
Disease: Nephroblastoma
0.700 CausalMutation CLINVAR Germinal mosaicism in Simpson-Golabi-Behmel syndrome. 17850639 2007
Nephroblastoma
CUI: C0027708
Disease: Nephroblastoma
0.700 CausalMutation CLINVAR GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome. 17603795 2007
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
CUI: C0796154
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
0.700 CausalMutation CLINVAR