Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.120 GeneticVariation BEFREE Mutations in COL4A1 are well described and result in brain abnormalities manifesting with severe neurological deficits including cerebral palsy, intellectual disability, and focal epilepsy. 26708157

2016

Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.120 Biomarker BEFREE This study shows an association of the COL4A1 gene with CP and suggests a potential role of COL4A1 in the pathogenesis of CP. 26748532

2016

Entrez Id: 1282
Gene Symbol: COL4A1
COL4A1
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.120 CausalMutation CLINVAR