UVRAG, UV radiation resistance associated, 7405

N. diseases: 336; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34696509
rs34696509
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG
CUI: C0392885
Disease:
High density lipoprotein measurement 		0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs10899133
rs10899133
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG
CUI: C0518015
Disease:
Hemoglobin measurement 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1213960426
rs1213960426
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG
CUI: C0406709
Disease:
Hay-Wells syndrome 		0.020 GeneticVariation BEFREE Here, we report the generation of a knock-in mouse model for AEC syndrome (p63(+/L514F) ) that recapitulates the human disorder. 22247000 2012
dbSNP: rs1213960426
rs1213960426
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG
CUI: C0406709
Disease:
Hay-Wells syndrome 		0.020 GeneticVariation BEFREE To further investigate the molecular mechanisms associated with AEC syndrome we established the cellular model for this disorder by stable introduction of mutated allele [L514F] of p63alpha into immortalized keratinocyte cells. 16177572 2005
dbSNP: rs1458836
rs1458836
Entrez Id: 7405;100506113
Gene Symbol: UVRAG;UVRAG-DT
UVRAG;UVRAG-DT
CUI: C1274648
Disease:
Segmental vitiligo 		0.010 GeneticVariation BEFREE Among these, two SNPs (rs1458836, rs7933235) showed significant genotypic differences between the NSV patient group and the control group. 20163458 2010
dbSNP: rs7933235
rs7933235
Entrez Id: 7405
Gene Symbol: UVRAG
UVRAG
CUI: C1274648
Disease:
Segmental vitiligo 		0.010 GeneticVariation BEFREE Among these, two SNPs (rs1458836, rs7933235) showed significant genotypic differences between the NSV patient group and the control group. 20163458 2010