XRCC4, X-ray repair cross complementing 4, 7518

N. diseases: 192; N. variants: 29
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779351
rs587779351
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.800 GeneticVariation UNIPROT XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency. 26255102 2015
dbSNP: rs587779351
rs587779351
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.800 GeneticVariation UNIPROT Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. 25839420 2015
dbSNP: rs587779351
rs587779351
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.800 GeneticVariation UNIPROT Mutations in the NHEJ component XRCC4 cause primordial dwarfism. 25728776 2015
dbSNP: rs587779351
rs587779351
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.800 GeneticVariation UNIPROT Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
dbSNP: rs587779351
rs587779351
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		C 0.800 CausalMutation CLINVAR
dbSNP: rs797045017
rs797045017
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		0.800 GeneticVariation UNIPROT
dbSNP: rs797045017
rs797045017
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587779351
rs587779351
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0013336
Disease:
Dwarfism 		C 0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
dbSNP: rs587779351
rs587779351
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0342573
Disease:
PITUITARY DWARFISM I 		C 0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
dbSNP: rs587779351
rs587779351
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0241210
Disease:
Speech Delay 		C 0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
dbSNP: rs587779351
rs587779351
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C1851057
Disease:
Normal motor development 		C 0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
dbSNP: rs587779351
rs587779351
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C1861324
Disease:
Short philtrum 		C 0.700 CausalMutation CLINVAR Genomic analysis of primordial dwarfism reveals novel disease genes. 24389050 2014
dbSNP: rs6452524
rs6452524
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0020538
Disease:
Hypertensive disease 		0.700 GeneticVariation GWASDB Two-marker association tests yield new disease associations for coronary artery disease and hypertension. 21626137 2011
dbSNP: rs6887846
rs6887846
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0020538
Disease:
Hypertensive disease 		0.700 GeneticVariation GWASDB Two-marker association tests yield new disease associations for coronary artery disease and hypertension. 21626137 2011
dbSNP: rs768825050
rs768825050
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		T 0.700 CausalMutation CLINVAR
dbSNP: rs779773463
rs779773463
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		T 0.700 CausalMutation CLINVAR
dbSNP: rs797045016
rs797045016
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		T 0.700 CausalMutation CLINVAR
dbSNP: rs869320677
rs869320677
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		T 0.700 CausalMutation CLINVAR
dbSNP: rs869320678
rs869320678
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		T 0.700 CausalMutation CLINVAR
dbSNP: rs879255258
rs879255258
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		G 0.700 CausalMutation CLINVAR
dbSNP: rs879255259
rs879255259
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C4225288
Disease:
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		A 0.700 CausalMutation CLINVAR
dbSNP: rs3734091
rs3734091
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0678222
Disease:
Breast Carcinoma 		0.030 GeneticVariation BEFREE Variant rs3734091 was found to be significantly associated with breast cancer while rs6869366 variant did not show any association. 29452234 2018
dbSNP: rs3734091
rs3734091
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.030 GeneticVariation BEFREE Variant rs3734091 was found to be significantly associated with breast cancer while rs6869366 variant did not show any association. 29452234 2018
dbSNP: rs1805377
rs1805377
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0017638
Disease:
Glioma 		0.030 GeneticVariation BEFREE This meta-analysis suggests that glioma susceptibility is associated with rs1799782 and rs25487 of X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), rs1805377 of XRCC4, rs1800067 of excision repair cross-complementing rodent repair deficiency complementation group 4 (ERCC4) and rs3212986 of ERCC1 in Asian population, and rs12917 of O-6-methylguanine-DNA methyltransferase (MGMT) and rs1136410 of poly(ADP-ribose) polymerase 1 (PARP1) in Caucasian population. 27055523 2017
dbSNP: rs1805377
rs1805377
Entrez Id: 7518
Gene Symbol: XRCC4
XRCC4
CUI: C0017638
Disease:
Glioma 		0.030 GeneticVariation BEFREE However, no association was found between variants of LIG4 rs1805388, XRCC4 rs2075685 and XRCC4 rs1805377 and development of glioma. 25973104 2015