rs121909149, SH3BP2

N. diseases: 2
Disease: Cherubism ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cherubism
CUI: C0008029
Disease: Cherubism
0.820 GeneticVariation BEFREE A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature. 24608212 2014
Cherubism
CUI: C0008029
Disease: Cherubism
0.820 GeneticVariation BEFREE Studies on the mouse model for cherubism carrying a P416R knock-in (KI) mutation have revealed that mutant SH3BP2 enhances tumor necrosis factor (TNF)-α production and receptor activator of nuclear factor-κB ligand (RANKL)-induced osteoclast differentiation in myeloid cells. 24916406 2014
Cherubism
CUI: C0008029
Disease: Cherubism
0.820 GeneticVariation UNIPROT Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. 12900899 2003
Cherubism
CUI: C0008029
Disease: Cherubism
0.820 GeneticVariation UNIPROT A missense mutation in the SH3BP2 gene on chromosome 4p16.3 found in a case of nonfamilial cherubism. 14577811 2003
Cherubism
CUI: C0008029
Disease: Cherubism
0.820 GeneticVariation UNIPROT Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. 11381256 2001
Cherubism
CUI: C0008029
Disease: Cherubism
0.820 CausalMutation CLINVAR
Cherubism
CUI: C0008029
Disease: Cherubism
0.820 CausalMutation CLINVAR