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GENE - TERM ANNOTATION REPORT

RGD ID: 13937601
Species: Sus scrofa
RGD Object: Gene
Symbol: XRCC1
Name: X-ray repair cross complementing 1
Acc ID: DOID:684
Term: hepatocellular carcinoma
Definition: A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver. (DO)
Definition Source(s): http://cancergenome.nih.gov/cancersselected/LiverHepatocellularCarcinoma "DO" "DO", http://en.wikipedia.org/wiki/Hepatocellular_carcinoma "DO" "DO", http://www.omim.org/entry/114550 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
XRCC1disease_progressionISOXRCC1 (Homo sapiens)9068941RGDDNA:SNPs:cds: 194C>T, 280A>G (human)PMID:28927037 REF_RGD_ID:150530503
XRCC1no_associationISOXRCC1 (Homo sapiens)9068941RGDassociated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R399Q (human)PMID:29935355 REF_RGD_ID:15036797
XRCC1severityISOXRCC1 (Homo sapiens)9068941RGDassociated with Chronic Hepatitis C;DNA:SNP:exon 14: c.1517G>C, p.506G>A (human)PMID:32334466 REF_RGD_ID:150540333
XRCC1severityISOXRCC1 (Homo sapiens)9068941RGDDNA:missense mutation:cds:p.R399Q (28152G>A) (rs25487) (human)PMID:26918371 REF_RGD_ID:14985240
XRCC1severityISOXRCC1 (Homo sapiens)9068941RGDDNA:missense mutation:cds:p.R399Q (rs25487) (human)PMID:23534753 REF_RGD_ID:15014791
XRCC1susceptibilityISOXRCC1 (Homo sapiens)9068941RGDassociated with hepatitis B;DNA:missense mutation, haplotype:cds:p.R399Q (human)PMID:14519756 PMID:23454624 REF_RGD_ID:15014790 REF_RGD_ID:15036794
XRCC1susceptibilityISOXRCC1 (Homo sapiens)9068941RGDassociated with Hepatitis C, Chronic;DNA:missense mutation:cds:p.R194W (human)PMID:29935355 REF_RGD_ID:15036797
XRCC1susceptibilityISOXRCC1 (Homo sapiens)9068941RGDDNA:missense mutation:cds:c.1804C>A (p.G506A) (human)PMID:24526467 REF_RGD_ID:14985242
XRCC1susceptibilityISOXRCC1 (Homo sapiens)9068941RGDDNA:missense mutation:cds:p.R399Q (human)PMID:22502666 REF_RGD_ID:14985243
XRCC1susceptibilityISOXRCC1 (Homo sapiens)9068941RGDDNA:missense mutation:cds:p.R399Q (rs25487) (human)PMID:28058700 PMID:29682247 REF_RGD_ID:14696702 REF_RGD_ID:14985238
XRCC1susceptibilityISOXRCC1 (Homo sapiens)9068941RGDDNA:missense mutations:cds:c.482C>T, c.1178G>A (p.P161L, p.R393H) (human)PMID:24570146 REF_RGD_ID:14696772
XRCC1susceptibilityISOXRCC1 (Homo sapiens)9068941RGDDNA:missense mutations:cds:p.R194W, p.R280H, p.R399Q (human)PMID:19194663 REF_RGD_ID:15014792
XRCC1susceptibilityISOXRCC1 (Homo sapiens)9068941RGDDNA:silent mutation, missense mutation:cds:c.1161G>A, c.1779C>G (p.L387L, p.S593R) (human)PMID:23493666 REF_RGD_ID:14696773
XRCC1susceptibilityISOXRCC1 (Homo sapiens)9068941RGDDNA:SNP:exon 13: c.1471G>A, p.E491K (human)PMID:24446299 REF_RGD_ID:150530624
XRCC1susceptibilityISOXRCC1 (Homo sapiens)9068941RGDDNA:SNPs:exon 9, exon 15: c.910A>G, c.1686C>G (human)PMID:24634229 REF_RGD_ID:150540332
XRCC1susceptibilityISOXRCC1 (Homo sapiens)9068941RGDDNA:SNPs:exons:c.1254C>T, c.1517G>C (human)PMID:23984316 REF_RGD_ID:15014789
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