dna ligase iv deficiency Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A combined T cell and B cell immunodeficiency that is caused by a mutatino in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. (Human Disease Ontology, DOID_0060021)
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Genes

14 genes co-occuring with the disease dna ligase iv deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
LIG4 ligase IV, DNA, ATP-dependent 2.58223
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 2.12122
DCLRE1C DNA cross-link repair 1C 1.57913
NHEJ1 nonhomologous end-joining factor 1 1.37687
PRKDC protein kinase, DNA-activated, catalytic polypeptide 1.10384
ATR ATR serine/threonine kinase 0.998236
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 0.941611
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2 0.903621
LIG1 ligase I, DNA, ATP-dependent 0.831918
NBN nibrin 0.764718
ATM ATM serine/threonine kinase 0.735838
COX5A cytochrome c oxidase subunit Va 0.555568
RAG1 recombination activating gene 1 0.544705
RAG2 recombination activating gene 2 0.524974