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Xeroderma pigmentosum, group E
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
DDB2
DDB1
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
DNA damage-binding protein 2
REACTOME_FORMATION_OF_INCISION_COMPLEX_IN_GG_NER
REACTOME_GLOBAL_GENOMIC_NER_GG_NER
REACTOME_NUCLEOTIDE_EXCISION_REPAIR
damaged DNA binding
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Curated Studies
Most Correlated Studies
OMIM - Skin pigmentation
Mouse Phenotypes - Xeroderma pigmentosum
OMIM - Xeroderma pigmentosum
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Literature
Most Relevant Literature
Brazilian XP-E siblings carrying a novel DDB2 variant developed early-onset melanoma: a case report.
Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E.
Single-molecule analysis reveals human UV-damaged DNA-binding protein (UV-DDB) dimerizes on DNA via …
A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squ…
DDB2 is involved in ubiquitination and degradation of PAQR3 and regulates tumorigenesis of gastric c…
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Most Relevant Clinical Trials
T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With …
Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderm…
A Study to Evaluate the Safety and Efficacy of Afamelanotide in Patients With Xeroderma Pigmentosum …
XPAND Trial: Enhancing XP Photoprotection Activities - New Directions
Study of Markers of Cosmic Radiation Exposure and Effect Among Flight Crews
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