Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868

2015

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
0.100 Biomarker HPO