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: 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: 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: 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
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 27 179 0.500 None 0.973 1 80 1991 2020
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: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 15 33 0.200 None 0.900 1 5 1991 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 28 802 1.000 None 0.973 0 9 1982 2020
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
disease Digestive System Diseases; Neoplasms Neoplastic Process 15 37 0.500 None 0.966 0 1 1991 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 43 100 0.700 None 0.947 0 7 1989 2020
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 35 0.100 None 0 1
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias
disease Neoplasms Neoplastic Process 4 7 0.120 None 1.000 0 1 2000 2012
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 4 20 1.000 None 0.953 0 8 1987 2020
CUI: C0030312
Disease: Pancytopenia
Pancytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 9 9 0.150 None 1.000 0 1 1998 2019
CUI: C0205770
Disease: Choroid Plexus Papilloma
Choroid Plexus Papilloma
disease Neoplasms; Nervous System Diseases Neoplastic Process 1 7 0.740 None 0.750 0 7 2002 2016
CUI: C0206624
Disease: Hepatoblastoma
Hepatoblastoma
disease Neoplasms Neoplastic Process 3 5 0.400 None 0.824 0 1 1991 2018
CUI: C0221217
Disease: Neck webbing
Neck webbing
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 11 19 0.100 None 0 1
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 5 22 0.700 None 0.965 0 7 1991 2019
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
disease Neoplasms Neoplastic Process 1 1 0.200 None 1.000 0 1 1992 2019
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 8 0.190 None 0.889 0 1 1992 2020
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 2 7 0.500 None 0.879 0 1 1991 2019
CUI: C0334579
Disease: Anaplastic astrocytoma
Anaplastic astrocytoma
disease Neoplasms Neoplastic Process 1 2 0.400 None 0.933 0 2 1991 2018
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma
disease Neoplasms Neoplastic Process 1 1 0.160 None 0.833 0 1 1996 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 26 25 0.100 None 0 1
Malignant neoplasm of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 3 7 0.100 None 0 2
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma
disease Neoplasms; Nervous System Diseases Neoplastic Process 1 1 0.500 None 1.000 0 1 2001 2019