Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3805375
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI
ALBINISM, OCULOCUTANEOUS, TYPE VI 		0.430 GeneticVariation disease BEFREE Thirty OCA type 6 (OCA6) patients with 24 mutations in SLC24A5 have been reported across various populations; however, only one patient has been identified in a Chinese population. 31486119 2019
CUI: C3805375
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI
ALBINISM, OCULOCUTANEOUS, TYPE VI 		0.430 GeneticVariation disease BEFREE Due to mutation in the SLC24A5 protein structure it became more rigid and might disturb the conformational changes and glycosylation function of protein structure and might play role in inducing the OCA6. 30204049 2019
CUI: C3805375
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI
ALBINISM, OCULOCUTANEOUS, TYPE VI 		0.430 Biomarker disease BEFREE Recent studies have linked mutations in the SLC24A4 (NCKX4) and SLC24A5 (NCKX5) genes to amylogenesis imperfecta (AI) and non-syndromic oculocutaneous albinism (OCA6), respectively. 27129268 2016
CUI: C3805375
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI
ALBINISM, OCULOCUTANEOUS, TYPE VI 		0.430 Biomarker disease GENOMICS_ENGLAND Detection of the first OCA6 Italian patient in a large cohort of albino subjects. 26686029 2016
CUI: C3805375
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI
ALBINISM, OCULOCUTANEOUS, TYPE VI 		0.430 Biomarker disease GENOMICS_ENGLAND SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism. 23985994 2014
CUI: C3805375
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI
ALBINISM, OCULOCUTANEOUS, TYPE VI 		0.430 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. 23364476 2013
CUI: C3805375
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI
ALBINISM, OCULOCUTANEOUS, TYPE VI 		0.430 Biomarker disease GENOMICS_ENGLAND
CUI: C3805375
Disease: ALBINISM, OCULOCUTANEOUS, TYPE VI
ALBINISM, OCULOCUTANEOUS, TYPE VI 		0.430 GeneticVariation disease CLINVAR