Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
0.120 Biomarker disease BEFREE Identification of COL18A1 mutations in individuals with a Lennox-Gastaut phenotype and anterior polymicrogyria but lacking the classical occipital encephalocele expands the COL18A1 clinical spectrum. 28602933 2017
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
0.120 Biomarker disease BEFREE Insights into the physiological function of collagen XVIII/endostatin have recently been obtained through the identification of inactivating mutations in the human collagen XVIII/endostatin gene (COL18A1) in patients with Knobloch syndrome, characterized by age-dependent vitreoretinal degeneration and occipital encephalocele. 15857886 2005
Entrez Id: 80781
Gene Symbol: COL18A1
COL18A1
0.120 Biomarker disease HPO