ZNF687, zinc finger protein 687, 57592

N. diseases: 17; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148402804
rs148402804
Entrez Id: 57592
Gene Symbol: ZNF687
ZNF687
CUI: C4085250
Disease:
PAGET DISEASE OF BONE 6 		G 0.800 CausalMutation CLINVAR
dbSNP: rs148402804
rs148402804
Entrez Id: 57592
Gene Symbol: ZNF687
ZNF687
CUI: C4085250
Disease:
PAGET DISEASE OF BONE 6 		0.800 GeneticVariation UNIPROT
dbSNP: rs869025582
rs869025582
Entrez Id: 57592
Gene Symbol: ZNF687
ZNF687
CUI: C4085250
Disease:
PAGET DISEASE OF BONE 6 		0.800 GeneticVariation UNIPROT
dbSNP: rs869025582
rs869025582
Entrez Id: 57592
Gene Symbol: ZNF687
ZNF687
CUI: C4085250
Disease:
PAGET DISEASE OF BONE 6 		T 0.800 CausalMutation CLINVAR
dbSNP: rs148402804
rs148402804
Entrez Id: 57592
Gene Symbol: ZNF687
ZNF687
CUI: C0017525
Disease:
Giant Cell Tumors 		0.010 GeneticVariation BEFREE We recently reported a founder mutation (p.Pro937Arg) in the ZNF687 gene, underlying PDB complicated by giant cell tumor (GCT/PDB) and rarely occurring in PDB patients without neoplastic degeneration. 29493781 2018
dbSNP: rs148402804
rs148402804
Entrez Id: 57592
Gene Symbol: ZNF687
ZNF687
CUI: C0029401
Disease:
Osteitis Deformans 		0.010 GeneticVariation BEFREE Finally, we also confirmed the causality of the p.Pro937Arg mutation in 4 additional GCT/PDB cases deriving from the same geographic area, indicating that PDB and GCT/PDB represent 2 sides of the same coin. 29493781 2018