Disease: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777685
rs587777685
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C4014833
Disease:
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES 		0.700 GeneticVariation UNIPROT PRKDC mutations in a SCID patient with profound neurological abnormalities. 23722905 2013
dbSNP: rs587777685
rs587777685
Entrez Id: 5591
Gene Symbol: PRKDC
PRKDC
CUI: C4014833
Disease:
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES 		0.700 GeneticVariation UNIPROT A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining. 19075392 2009