SLC45A2, solute carrier family 45 member 2, 51151

N. diseases: 75; N. variants: 46
Disease: Albinism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001916
Disease: Albinism
Albinism 		0.160 Biomarker disease BEFREE Although the candidate gene SLC45A2 is known to be involved in albinism in different species, to date in cattle only mutations in the TYR and MITF genes were reported to be associated with albinism or albinism-like phenotypes. 28982372 2017
CUI: C0001916
Disease: Albinism
Albinism 		0.160 GeneticVariation disease BEFREE Thus, we identified a novel mutation in SLC45A2 in a Chinese family, expanding the mutational spectrum of albinism. 27706749 2016
CUI: C0001916
Disease: Albinism
Albinism 		0.160 GeneticVariation disease BEFREE OCA type IV (OCA4) is one of the four commonly recognized forms of albinism, and is determined by mutation in the SLC45A2 gene. 26016411 2015
CUI: C0001916
Disease: Albinism
Albinism 		0.160 Biomarker disease BEFREE We have developed a computational procedure to determine the SNPs in the 3'UTR region of mRNA of OCA (TYR, OCA2, TYRP1 and SLC45A2) and OA (GPR143) genes which will be a potential cause for albinism. 25060099 2014
CUI: C0001916
Disease: Albinism
Albinism 		0.160 Biomarker disease BEFREE Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. 22294196 2012
CUI: C0001916
Disease: Albinism
Albinism 		0.160 GeneticVariation disease BEFREE We screened 176 German patients with albinism for mutations within the MATP gene and identified five individuals with OCA4. 14722913 2004
CUI: C0001916
Disease: Albinism
Albinism 		0.160 Biomarker disease HPO