|
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 |
|
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 |
|
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 |
|
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 |
|
ALBINISM, OCULOCUTANEOUS, TYPE VI
|
0.430 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.
|
23985994 |
2014 |
|
ALBINISM, OCULOCUTANEOUS, TYPE VI
|
0.430 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
|
23364476 |
2013 |
|
ALBINISM, OCULOCUTANEOUS, TYPE VI
|
0.430 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
ALBINISM, OCULOCUTANEOUS, TYPE VI
|
0.430 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Oculocutaneous albinism type 6
|
0.410 |
Biomarker
|
disease |
BEFREE |
Solute carrier family 24 member 5 (SLC24A5) is a gene that is associated with oculocutaneous albinism type 6 (OCA6) disorder and is involved in skin and hair pigmentation.
|
30204049 |
2019 |
|
Oculocutaneous albinism type 6
|
0.410 |
GermlineCausalMutation
|
disease |
ORPHANET |
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
|
23364476 |
2013 |
|
Oculocutaneous albinism type 6
|
0.410 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Albinism, Oculocutaneous
|
0.370 |
Biomarker
|
disease |
BEFREE |
We have previously identified <i>NCKX5</i> (also known as <i>SLC24A5</i>) as a causative gene for OCA type 6 (OCA6).
|
31201282 |
2019 |
|
Albinism, Oculocutaneous
|
0.370 |
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 |
|
Albinism, Oculocutaneous
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
In this study we recruited 321 albino patients and screened them for the genes known to cause oculocutaneous albinism (OCA1-4 and OCA6) and ocular albinism (OA1).
|
27734839 |
2017 |
|
Albinism, Oculocutaneous
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Oculocutaneous albinism (OCA) has been associated with new mutations in genes named OCA5, OCA6, and OCA7, bringing to the total number of culprit genes to seven (OCA1-OCA7).
|
28525403 |
2017 |
|
Albinism, Oculocutaneous
|
0.370 |
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 |
|
Albinism, Oculocutaneous
|
0.370 |
GeneticVariation
|
disease |
BEFREE |
Three PUAs (p.P152H and p.W272X of TYR, p.A486T of SLC24A5) identified in the OCA probands did not co-transmit with known pathological alleles and thus gave rise to unaffected fetuses.
|
26165494 |
2015 |
|
Albinism, Oculocutaneous
|
0.370 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We used exome sequencing with a family-based recessive mutation model to determine that SLC24A5 is a previously unreported candidate gene for nonsyndromic OCA, which we designate as OCA6.
|
23364476 |
2013 |
|
Albinism, Oculocutaneous
|
0.370 |
Biomarker
|
disease |
BEFREE |
We used exome sequencing with a family-based recessive mutation model to determine that SLC24A5 is a previously unreported candidate gene for nonsyndromic OCA, which we designate as OCA6.
|
23364476 |
2013 |
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Skin-Hair-Eye Pigmentation, Variation In, 4
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
|
|
|
|
Albinism, Ocular
|
0.210 |
Biomarker
|
disease |
BEFREE |
In this study we recruited 321 albino patients and screened them for the genes known to cause oculocutaneous albinism (OCA1-4 and OCA6) and ocular albinism (OA1).
|
27734839 |
2017 |
|
Albinism, Ocular
|
0.210 |
Biomarker
|
disease |
MGD |
Our findings suggest that SLC24A5 may be a candidate gene for some forms of ocular albinism and for the BEY1/EYCL2 locus previously associated with central brown eye color in humans.
|
18424845 |
2008 |
|
Skin Pigmentation
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Identification of a novel locus associated with skin colour in African-admixed populations.
|
28300201 |
2017 |