Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1303
Gene Symbol: COL12A1
COL12A1
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.610 GermlineCausalMutation 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
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.610 GermlineCausalMutation ORPHANET Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. 24334769

2014