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Oculocutaneous albinism
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
TYR
DCT
BLOC1S5
MC1R
SLC45A2
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
pigmentation
developmental pigmentation
cellular pigmentation
pigment biosynthetic process
pigment metabolic process
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Curated Studies
Most Correlated Studies
Mast cells from Hermansky-Pudlak syndrome patients with 16bp duplication in the HPS1 gene
PBMCs from familial pulmonary fibrosis and Hemansky-Pudlak syndrome pulmonary fibrosis patients
Lung epithelial EPCAM+ cells from lung organoids differentiated from HPS1, HPS2, or HPS8 mutant PSCs
OMIM - Albinism
Mouse Phenotypes - Inherited platelet disorder
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Literature
Most Relevant Literature
Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation …
Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism.
Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism.
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism.
Incidental finding of alpha-methylacyl-CoA racemase deficiency in a patient with oculocutaneous albi…
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Clinical Trials
Most Relevant Clinical Trials
Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism
New Strategies of Genetic Study of Patients With Oculocutaneous Albinism
Nitisinone for Type 1B Oculocutaneous Albinism
The Effects of Lutein and Zeaxanthin Supplementation on Vision in Patients With Albinism
Visual Function and Ocular Pigmentation in Albinism
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