Gene: UVSSA ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57654
Gene Symbol: UVSSA
UVSSA 		0.660 GeneticVariation disease BEFREE UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan. 31421932 2019
Entrez Id: 57654
Gene Symbol: UVSSA
UVSSA 		0.660 Biomarker disease BEFREE UVSSA is a causative gene for UV-sensitive syndrome (UV<sup>S</sup> S), which is an autosomal recessive disorder characterized by hypersensitivity to UV light and deficiency in TC-NER. 29323787 2018
Entrez Id: 57654
Gene Symbol: UVSSA
UVSSA 		0.660 Biomarker disease BEFREE We will discuss the function of UVSSA and USP7 and how the discovery of these proteins contributes to a better understanding of the molecular mechanisms underlying the clinical differences between UVSS and the more severe CS. 23760561 2013
Entrez Id: 57654
Gene Symbol: UVSSA
UVSSA 		0.660 Biomarker disease BEFREE UVSSA was found to be the causative gene for UV(S)S, an unresolved NER deficiency disorder. 22466611 2012
Entrez Id: 57654
Gene Symbol: UVSSA
UVSSA 		0.660 GermlineCausalMutation disease ORPHANET UVSSA was found to be the causative gene for UV(S)S, an unresolved NER deficiency disorder. 22466611 2012
Entrez Id: 57654
Gene Symbol: UVSSA
UVSSA 		0.660 GeneticVariation disease BEFREE We identify three nonsense and frameshift UVSSA mutations in individuals with UV(S)S-A, indicating that UVSSA is the causative gene for this syndrome. 22466612 2012
Entrez Id: 57654
Gene Symbol: UVSSA
UVSSA 		0.660 GermlineCausalMutation disease ORPHANET Using exome sequencing, we determine that mutations in the UVSSA gene (formerly known as KIAA1530) cause UV(S)S-A. 22466610 2012
Entrez Id: 57654
Gene Symbol: UVSSA
UVSSA 		0.660 GeneticVariation disease BEFREE Using exome sequencing, we determine that mutations in the UVSSA gene (formerly known as KIAA1530) cause UV(S)S-A. 22466610 2012
Entrez Id: 57654
Gene Symbol: UVSSA
UVSSA 		0.660 GermlineCausalMutation disease ORPHANET We identify three nonsense and frameshift UVSSA mutations in individuals with UV(S)S-A, indicating that UVSSA is the causative gene for this syndrome. 22466612 2012
Entrez Id: 57654
Gene Symbol: UVSSA
UVSSA 		0.660 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 57654
Gene Symbol: UVSSA
UVSSA 		0.660 Biomarker disease CTD_human