TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell 		0.500 GeneticVariation disease GWASDB Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. 24403052 2014
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. 22829776 2012
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.100 GeneticVariation phenotype GWASDB A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. 22829776 2012
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 Biomarker disease CLINGEN Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923 2016
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 Biomarker disease CLINGEN Mutations in the p53 Tumor Suppressor Gene: Important Milestones at the Various Steps of Tumorigenesis. 21779514 2011
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 Biomarker disease CLINGEN Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes. 21343334 2011
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 Biomarker disease CLINGEN Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families. 26534844 2016
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 Biomarker disease CLINGEN Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer. 28418444 2017
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 Biomarker disease CLINGEN The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. 28649662 2017
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 Biomarker disease CLINGEN Mouse models of p53 functions. 20452944 2010
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 Biomarker disease CLINGEN The tumor suppressor gene p53 has an apparent role in breast tumor development in humans, as approximately 30% of sporadic tumors acquire p53 mutations and Li-Fraumeni syndrome patients carrying germ line p53 mutations frequently develop breast tumors at early age. 16166291 2005
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Genetic predisposition to hematologic malignancies: management and surveillance. 28600339 2017
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy. 28338660 2017
CUI: C1261473
Disease: Sarcoma
Sarcoma 		1.000 Biomarker group GENOMICS_ENGLAND Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy. 28338660 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		1.000 Biomarker disease GENOMICS_ENGLAND