XRCC4, X-ray repair cross complementing 4, 7518

N. diseases: 192; N. variants: 29
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION ×
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