COL5A3, collagen type V alpha 3 chain, 50509

N. diseases: 5; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0013595
Disease: Eczema
Eczema 		0.010 Biomarker disease BEFREE The COL5A3 and MMP9 genes interact in eczema susceptibility. 29168291 2018
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.010 Biomarker disease BEFREE COL5A3 is mapped to 19p13.2 near a polymorphic marker that should be useful in analyzing linkage with EDS and other disease phenotypes. 10722718 2000
CUI: C0030193
Disease: Pain
Pain 		0.010 GeneticVariation phenotype BEFREE This distribution, and the association of alpha1(V), alpha2(V), and alpha3(V) chains in heterotrimers, suggests the human alpha3(V) gene COL5A3 as a candidate locus for at least some cases of classical EDS in which the alpha1(V) and alpha2(V) genes have been excluded, and for at least some cases of the hypermobility type of EDS, a condition marked by gross joint laxity and chronic musculoskeletal pain. 10722718 2000