ZNF547, zinc finger protein 547, 284306

N. diseases: 2; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769218264
rs769218264
Entrez Id: 10597;284306
Gene Symbol: TRAPPC2B;ZNF547
TRAPPC2B;ZNF547
CUI: C3541456
Disease:
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		0.700 GeneticVariation UNIPROT The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. 11349230 2001
dbSNP: rs769218264
rs769218264
Entrez Id: 10597;284306
Gene Symbol: TRAPPC2B;ZNF547
TRAPPC2B;ZNF547
CUI: C3541456
Disease:
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		0.700 GeneticVariation UNIPROT A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree. 11424925 2001
dbSNP: rs769218264
rs769218264
Entrez Id: 10597;284306
Gene Symbol: TRAPPC2B;ZNF547
TRAPPC2B;ZNF547
CUI: C3541456
Disease:
Spondyloepiphyseal Dysplasia Tarda, X-Linked 		0.700 GeneticVariation UNIPROT Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda. 10431248 1999