XRCC4, X-ray repair cross complementing 4, 7518

N. diseases: 192; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.600 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.600 GeneticVariation disease UNIPROT XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency. 26255102 2015
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.600 GeneticVariation disease UNIPROT Mutations in the NHEJ component XRCC4 cause primordial dwarfism. 25728776 2015
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.600 GeneticVariation disease UNIPROT Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. 25839420 2015
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.600 GeneticVariation disease UNIPROT Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.600 Biomarker disease GENOMICS_ENGLAND Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.600 CausalMutation disease CLINVAR
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
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.430 GeneticVariation disease BEFREE Contrary to expectations, however, no overt immunodeficiency has been observed in patients with primordial dwarfism harboring XRCC4 mutations. 27169690 2016
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.430 Biomarker disease GENOMICS_ENGLAND Mutations in the NHEJ component XRCC4 cause primordial dwarfism. 25728776 2015
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.430 GeneticVariation disease BEFREE Mutations in the NHEJ component XRCC4 cause primordial dwarfism. 25728776 2015
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.430 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: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		0.430 CausalMutation disease CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease BEFREE Our data firstly indicate that XRCC4 may be a potential protective gene towards schizophrenia, conferring reduced susceptibility to colorectal cancer in the Han Chinese population. 20920336 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.310 Biomarker disease PSYGENET Our data firstly indicate that XRCC4 may be a potential protective gene towards schizophrenia, conferring reduced susceptibility to colorectal cancer in the Han Chinese population. 20920336 2010
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome 		0.300 GeneticVariation disease ORPHANET Mutations in XRCC4 cause primordial dwarfism without causing immunodeficiency. 27169690 2016
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		0.300 Biomarker group CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500 2015
CUI: C1112155
Disease: Hereditary non-polyposis colorectal cancer syndrome
Hereditary non-polyposis colorectal cancer syndrome 		0.300 Biomarker disease CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500 2015
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		0.300 Biomarker disease CLINGEN Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer. 25058500 2015