Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91949
Gene Symbol: COG7
COG7
Congenital disorder of glycosylation type 2E
0.600 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 91949
Gene Symbol: COG7
COG7
Congenital disorder of glycosylation type 2E
0.600 Biomarker GENOMICS_ENGLAND A new mutation in COG7 extends the spectrum of COG subunit deficiencies. 19577670

2009

Entrez Id: 91949
Gene Symbol: COG7
COG7
Congenital disorder of glycosylation type 2E
0.600 Biomarker GENOMICS_ENGLAND A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. 17356545

2007

Entrez Id: 91949
Gene Symbol: COG7
COG7
Congenital disorder of glycosylation type 2E
0.600 Biomarker GENOMICS_ENGLAND Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. 15107842

2004

Entrez Id: 91949
Gene Symbol: COG7
COG7
Congenital disorder of glycosylation type 2E
0.600 GeneticVariation CLINVAR

Entrez Id: 91949
Gene Symbol: COG7
COG7
Congenital disorder of glycosylation type 2E
0.600 Biomarker CTD_human

Entrez Id: 91949
Gene Symbol: COG7
COG7
Congenital disorder of glycosylation type 2E
0.600 CausalMutation CLINVAR