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 |
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 |
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 |
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 |
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 |
Oculocutaneous Albinism, Type IV
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Relationship between foveal cone specialization and pit morphology in albinism.
|
24845642 |
2014 |
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 |
Oculocutaneous Albinism, Type IV
|
0.780 |
GeneticVariation
|
disease |
BEFREE |
Oculocutaneous albinism type 4 (OCA4) is caused by autosomal recessive mutations in SLC45A2.
|
23171239 |
2012 |
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 |
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 |
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 |
Oculocutaneous Albinism, Type IV
|
0.780 |
GeneticVariation
|
disease |
UNIPROT |
SLC45A2 variations in Indian oculocutaneous albinism patients.
|
17768386 |
2007 |
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 |
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 |
Oculocutaneous Albinism, Type IV
|
0.780 |
GeneticVariation
|
disease |
CLINVAR |
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism.
|
15565285 |
2005 |
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 |
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 |
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 |
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 |
Oculocutaneous Albinism, Type IV
|
0.780 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Oculocutaneous Albinism, Type IV
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Oculocutaneous Albinism, Type IV
|
0.780 |
Biomarker
|
disease |
CTD_human |
|
|
|
Oculocutaneous Albinism, Type IV
|
0.780 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
OCA type 1, OCA type 2, and OCA type 4, which are respectively caused by mutations in TYR, OCA2, and SLC45A2 have high morbidity rates in Asia.
|
31199599 |
2019 |
Albinism, Oculocutaneous
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Whole exome sequencing identifies a novel pathogenic variation [p.(Gly194valfs*7)] in SLC45A2 in the homozygous state in multiple members of a family with oculocutaneous albinism in southern India.
|
31630438 |
2019 |