Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1288
Gene Symbol: COL4A6
COL4A6 		0.700 Biomarker disease GENOMICS_ENGLAND Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 1288
Gene Symbol: COL4A6
COL4A6 		0.700 Biomarker disease CLINGEN Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. 23714752 2014
Entrez Id: 1288
Gene Symbol: COL4A6
COL4A6 		0.700 GeneticVariation disease UNIPROT Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. 23714752 2014
Entrez Id: 1288
Gene Symbol: COL4A6
COL4A6 		0.700 Biomarker disease GENOMICS_ENGLAND Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome. 9463311 1998
Entrez Id: 1288
Gene Symbol: COL4A6
COL4A6 		0.700 CausalMutation disease CLINVAR
Entrez Id: 1288
Gene Symbol: COL4A6
COL4A6 		0.700 Biomarker disease CTD_human