rs11540652, TP53

N. diseases: 57
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 GeneticVariation CLINVAR
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.720 CausalMutation CLINVAR
Lymphoma
CUI: C0024299
Disease: Lymphoma
0.720 GeneticVariation CLINVAR
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.710 CausalMutation CLINVAR
Choroid Plexus Papilloma
CUI: C0205770
Disease: Choroid Plexus Papilloma
0.700 CausalMutation CLINVAR
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.700 CausalMutation CLINVAR
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR
ADRENOCORTICAL CARCINOMA, HEREDITARY
CUI: C1859972
Disease: ADRENOCORTICAL CARCINOMA, HEREDITARY
0.700 CausalMutation CLINVAR
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
0.700 CausalMutation CLINVAR
Sarcoma
CUI: C1261473
Disease: Sarcoma
0.700 CausalMutation CLINVAR
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 GeneticVariation CLINVAR
Nasopharyngeal carcinoma
CUI: C2931822
Disease: Nasopharyngeal carcinoma
0.700 CausalMutation CLINVAR
GLIOMA SUSCEPTIBILITY 1
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
0.700 CausalMutation CLINVAR
Malignant neoplasm of large intestine
CUI: C0346629
Disease: Malignant neoplasm of large intestine
0.700 CausalMutation CLINVAR
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
0.700 CausalMutation CLINVAR
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
0.700 CausalMutation CLINVAR
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR p53 mosaicism with an exon 8 germline mutation in the founder of a cancer-prone pedigree. 1359493 1992
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. 1565143 1992
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
0.700 CausalMutation CLINVAR Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. 1565143 1992
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR The p53 tumour suppressor gene. 2046748 1991
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
0.800 CausalMutation CLINVAR Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. 7887414 1995
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.050 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941 1993
Malignant neoplasm of lung
CUI: C0242379
Disease: Malignant neoplasm of lung
0.020 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941 1993
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941 1993
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.020 GeneticVariation BEFREE Our results show: (1) wild-type p53 stimulates the transcription of reporter genes with p53CON and RGC in their 5' region while most p53 mutants occurring in human cancers have lost this activity; (2) the R273H mutant retains transcriptional activity for the p53CON sequence but not RGC; (3) some mutants are temperature-sensitive for the transcriptional activity with the p53CON but not the RGC sequence; (4) p53 mutants vary in their ability to inhibit wild-type p53 transactivation but there is no difference between p53CON and RGC sequences; (5) lung cancer cells with endogenous mutant p53 proteins (M246I in H23 cells and R248L in H322 cells) retain transcriptional activity for the p53CON but not the RGC sequence. 8336941 1993