LIG4 Syndrome Gene Set

Dataset CTD Gene-Disease Associations
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)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C564694
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Genes

1 genes/proteins associated with the disease LIG4 Syndrome from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
LIG4 ligase IV, DNA, ATP-dependent 2.88009