XRCC1, X-ray repair cross complementing 1, 7515

N. diseases: 410; N. variants: 39
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 GeneticVariation disease UNIPROT
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		0.110 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.100 Biomarker phenotype HPO
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		0.100 Biomarker phenotype HPO
CUI: C0240914
Disease: Romberg's sign positive
Romberg's sign positive 		0.100 Biomarker phenotype HPO
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		0.100 Biomarker disease HPO
CUI: C0423083
Disease: Hypermetric saccades
Hypermetric saccades 		0.100 Biomarker phenotype HPO
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.100 Biomarker disease HPO
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		0.100 Biomarker phenotype HPO
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		0.100 Biomarker disease HPO
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.100 Biomarker disease BEFREE The human X-ray repair cross-complementing gene 1 (XRCC1) is highly polymorphic in the cells of human head and neck squamous cell carcinoma lines and in a variety of other human cell lines. 1574572 1992
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		0.020 Biomarker group BEFREE Expression of the polymorphic human DNA repair gene XRCC1 does not correlate with radiosensitivity in the cells of human head and neck tumor cell lines. 1574572 1992
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.080 Biomarker disease BEFREE The relative mRNA level of c-myc and XRCC1 genes was significantly increased 15 min after X-irradiation with doses of 2-8 Gy in ataxia telangiectasia (AT) cells (AT5BIVA and TAT2SF), in contrast to little change in xeroderma pigmentosum (XP2OS(SV) and XP2YO(SV)) and normal cells (WI38VA13 and GM0637). 7513822 1994
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.010 Biomarker disease BEFREE The relative mRNA level of c-myc and XRCC1 genes was significantly increased 15 min after X-irradiation with doses of 2-8 Gy in ataxia telangiectasia (AT) cells (AT5BIVA and TAT2SF), in contrast to little change in xeroderma pigmentosum (XP2OS(SV) and XP2YO(SV)) and normal cells (WI38VA13 and GM0637). 7513822 1994
CUI: C0004045
Disease: Asphyxia Neonatorum
Asphyxia Neonatorum 		0.200 Biomarker disease RGD mRNA levels of the hypoxia inducible factor (HIF-1) and DNA repair genes in perinatal asphyxia of the rat. 9763211 1998
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE We performed T cell cloning experiments with a tumor-infiltrating lymphocyte subpopulation derived from a renal cell carcinoma tumor site (RCC-7) in which the TCR clonotypic repertoire had been analyzed in terms of TCRBV complementarity-determining region 3 size distribution. 9973436 1999