COL5A1, collagen type V alpha 1 chain, 1289

N. diseases: 199; N. variants: 69
Disease: Ehlers-Danlos syndrome type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268336
Disease: Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 2 		0.530 Biomarker disease BEFREE A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. 9683580 1998
CUI: C0268336
Disease: Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 2 		0.530 Biomarker disease CTD_human Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. 9042913 1997
CUI: C0268336
Disease: Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 2 		0.530 Biomarker disease GENOMICS_ENGLAND Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. 9042913 1997
CUI: C0268336
Disease: Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 2 		0.530 Biomarker disease CTD_human The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II. 8752669 1996
CUI: C0268336
Disease: Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 2 		0.530 Biomarker disease BEFREE COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. 7759113 1995
CUI: C0268336
Disease: Ehlers-Danlos syndrome type 2
Ehlers-Danlos syndrome type 2 		0.530 Biomarker disease BEFREE Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II). 8541855 1995