XRCC4, X-ray repair cross complementing 4, 7518

N. diseases: 192; N. variants: 29
Disease: LIG4 Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome 		0.300 GeneticVariation disease ORPHANET Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency. 27169690 2016