TP53, tumor protein p53, 7157

N. diseases: 84; N. variants: 390
Source: CLINVAR ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 67 6385 0.170 None 1.000 365 201 1989 2018
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
LI-FRAUMENI SYNDROME 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 1 39 0.100 None 1.000 99 39 1990 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 27 141 0.700 None 0.961 6 27 1986 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 26 98 0.200 None 0.947 5 6 1987 2020
Hereditary Breast and Ovarian Cancer Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process 17 2106 0.500 None 0.941 5 2 1994 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 34 314 0.700 None 0.984 3 84 1982 2020
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 21 142 1.000 None 0.959 3 67 1990 2020
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 31 216 0.700 None 0.989 2 67 1991 2018
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 5 46 0.700 None 0.960 1 32 1990 2019
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 22 135 0.200 None 1.000 1 62 1994 2019
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 10 45 0.120 None 1.000 1 19 2016 2018
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 37 211 0.400 None 0.991 1 81 1992 2019
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 16 102 0.200 None 0.985 1 67 1990 2020
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 38 153 0.500 None 0.963 1 38 1994 2019
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 26 152 0.100 None 1.000 1 43 2016 2016
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 12 80 0.120 None 1.000 1 43 2006 2018
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 4 11 0.200 None 0.892 1 6 1994 2019
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 12 54 0.200 None 0.923 1 33 1993 2019
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 30 188 0.200 None 1.000 1 67 1992 2019
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary
disease Neoplasms Neoplastic Process 9 99 0.110 None 1.000 1 77 1999 2016
Transitional cell carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 26 141 0.200 None 0.979 1 48 1993 2018
Papillary renal cell carcinoma, sporadic
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 11 30 0.100 None 1.000 1 6 2016 2016
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 18 114 0.200 None 1.000 1 71 1993 2019
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO
phenotype Finding 11 34 0.100 None 1.000 1 2 2016 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 13 118 0.700 None 0.947 1 68 1991 2019