Gene: COL12A1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1 		0.610 Biomarker disease BEFREE Mutation in the collagen XII gene (COL12A1) was recently reported to induce Bethlem myopathy. 29342313 2018
Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1 		0.610 Biomarker disease GENOMICS_ENGLAND Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. 24334604 2014
Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1 		0.610 GermlineCausalMutation disease ORPHANET Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. 24334604 2014
Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1 		0.610 GermlineCausalMutation disease ORPHANET Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. 24334769 2014
Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1 		0.610 Biomarker disease CTD_human