XRCC4, X-ray repair cross complementing 4, 7518

N. diseases: 192; N. variants: 29
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.440 GeneticVariation disease BEFREE Contrary to expectations, however, no overt immunodeficiency has been observed in patients with primordial dwarfism harboring XRCC4 mutations. 27169690 2016
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.440 Biomarker disease GENOMICS_ENGLAND Mutations in the NHEJ component XRCC4 cause primordial dwarfism. 25728776 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.440 GeneticVariation disease BEFREE Mutations in the NHEJ component XRCC4 cause primordial dwarfism. 25728776 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.440 GeneticVariation disease BEFREE An XRCC4 splice mutation associated with severe short stature, gonadal failure, and early-onset metabolic syndrome. 25742519 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.440 Biomarker disease BEFREE An additional novel PD disease candidate gene XRCC4 was identified by autozygome/exome analysis, and the knockout mouse phenotype is highly compatible with PD. 24389050 2014
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.440 CausalMutation disease CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.440 Biomarker disease HPO