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: 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: C1334655
Disease: Mediastinal Germ Cell Tumor
Mediastinal Germ Cell Tumor 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2 2 0.100 None 0 1
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		phenotype Finding 1 2 0.100 None 0 2
CUI: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		disease Neoplasms Neoplastic Process 1 1 0.100 None 0 1
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype Finding 2 2 0.100 None 0 1
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 190 292 0.100 None 0 1
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3 7 0.100 None 0 2
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 26 25 0.100 None 0 1
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: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		phenotype Finding 2 5 0.100 None 0 2
CUI: C4748488
Disease: BONE MARROW FAILURE SYNDROME 5
BONE MARROW FAILURE SYNDROME 5 		disease Disease or Syndrome 1 2 0.400 limited 0 2
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 0 2
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1 		phenotype Finding 2 7 0.400 None 0 6
CUI: C3553606
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7 		disease Finding 1 7 0.400 None 0 7
CUI: C4288013
Disease: Vulvar Adenocarcinoma of Mammary Gland Type
Vulvar Adenocarcinoma of Mammary Gland Type 		disease Neoplastic Process 2 2 0.100 None 0 1
CUI: C4013716
Disease: Small cell carcinoma of the ovary, hypercalcemic type
Small cell carcinoma of the ovary, hypercalcemic type 		phenotype Neoplasms Finding 1 1 0.100 None 0 1
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: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		disease Neoplasms Neoplastic Process 1 1 0.160 None 0.833 0 1 1996 2018
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: 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: 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: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 12 66 0.500 None 0.900 1 26 1991 2019
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: 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