COL4A6, collagen type IV alpha 6 chain, 1288

N. diseases: 43; N. variants: 10
Disease: DEAFNESS, X-LINKED 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3806737
Disease: DEAFNESS, X-LINKED 6
DEAFNESS, X-LINKED 6 		0.700 Biomarker disease GENOMICS_ENGLAND Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
CUI: C3806737
Disease: DEAFNESS, X-LINKED 6
DEAFNESS, X-LINKED 6 		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
CUI: C3806737
Disease: DEAFNESS, X-LINKED 6
DEAFNESS, X-LINKED 6 		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
CUI: C3806737
Disease: DEAFNESS, X-LINKED 6
DEAFNESS, X-LINKED 6 		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
CUI: C3806737
Disease: DEAFNESS, X-LINKED 6
DEAFNESS, X-LINKED 6 		0.700 CausalMutation disease CLINVAR
CUI: C3806737
Disease: DEAFNESS, X-LINKED 6
DEAFNESS, X-LINKED 6 		0.700 Biomarker disease CTD_human