Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91949
Gene Symbol: COG7
COG7
0.600 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 91949
Gene Symbol: COG7
COG7
0.600 Biomarker disease GENOMICS_ENGLAND A new mutation in COG7 extends the spectrum of COG subunit deficiencies. 19577670 2009
Entrez Id: 91949
Gene Symbol: COG7
COG7
0.600 Biomarker disease 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
0.600 Biomarker disease GENOMICS_ENGLAND Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. 15107842 2004
Entrez Id: 91949
Gene Symbol: COG7
COG7
0.600 GeneticVariation disease CLINVAR
Entrez Id: 91949
Gene Symbol: COG7
COG7
0.600 Biomarker disease CTD_human
Entrez Id: 91949
Gene Symbol: COG7
COG7
0.600 CausalMutation disease CLINVAR