SLC45A2, solute carrier family 45 member 2, 51151

N. diseases: 75; N. variants: 46
Disease: Oculocutaneous Albinism, Type IV ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease BEFREE Oculocutaneous albinism type 4 (OCA4) in humans and similar phenotypes in many animal species are caused by variants in the SLC45A2 gene, encoding a putative sugar transporter. 28737247 2017
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease BEFREE Mutational search was performed for the SLC45A2 gene responsible for oculocutaneous albinism type 4 (OCA4). 28192564 2017
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 CausalMutation disease CLINVAR Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations. 26818737 2016
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease BEFREE Our study explored the understanding of molecular mechanism of MATP protein upon mutation at atomic level and further helps in the field of pharmacogenomics to develop a personalized medicine for OCA4 disorder.. 27019209 2016
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease BEFREE Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. 26016411 2015
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease CLINVAR Relationship between foveal cone specialization and pit morphology in albinism. 24845642 2014
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease UNIPROT DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 23504663 2013
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease BEFREE Oculocutaneous albinism type 4 (OCA4) is caused by autosomal recessive mutations in SLC45A2. 23171239 2012
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease BEFREE The p.D160H allele accounts for 55.6% of the mutational SLC45A2 alleles in Chinese OCA4 patients. 19865097 2010
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease UNIPROT The p.D160H allele accounts for 55.6% of the mutational SLC45A2 alleles in Chinese OCA4 patients. 19865097 2010
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease BEFREE Oculocutaneous albinism type IV: A boy of Moroccan descent with a novel mutation in SLC45A2. 19610114 2009
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease UNIPROT SLC45A2 variations in Indian oculocutaneous albinism patients. 17768386 2007
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease BEFREE Mutations in the solute carrier family 45, member 2 gene (SLC45A2, also called MATP) cause oculocutaneous albinism type 4 (OCA4), which is the second most prevalent type of OCA in Japan. 17768386 2007
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease UNIPROT A Korean case of oculocutaneous albinism type IV caused by a D157N mutation in the MATP gene. 15656822 2005
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease CLINVAR Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. 15565285 2005
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease UNIPROT Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. 14722913 2004
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease UNIPROT Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan. 14961451 2004
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 Biomarker disease GENOMICS_ENGLAND Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. 14722913 2004
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GeneticVariation disease UNIPROT Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. 11574907 2001
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 GermlineCausalMutation disease ORPHANET
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 Biomarker disease CTD_human
CUI: C1847836
Disease: Oculocutaneous Albinism, Type IV
Oculocutaneous Albinism, Type IV 		0.780 Biomarker disease GENOMICS_ENGLAND