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: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 12 33 0.200 None 0.947 0 2 2011 2018
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: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma 		disease Neoplasms Neoplastic Process 1 1 0.160 None 0.833 0 1 1996 2018
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: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		disease Neoplasms Neoplastic Process 4 7 0.120 None 1.000 0 1 2000 2012
CUI: C1859973
Disease: Adrenocortical Carcinoma, Pediatric
Adrenocortical Carcinoma, Pediatric 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 1 2 0.110 None 1.000 0 2 2015 2015
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		disease Mental Disorders Mental or Behavioral Dysfunction 26 25 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: C0349588
Disease: Short stature
Short stature 		phenotype Finding 190 292 0.100 None 0 1
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		phenotype Finding 1 2 0.100 None 0 2
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: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		phenotype Finding 2 5 0.100 None 0 2
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		phenotype Finding 2 2 0.100 None 0 1
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: 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: 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: C1266184
Disease: Atypical Teratoid Rhabdoid Tumor
Atypical Teratoid Rhabdoid Tumor 		disease Neoplasms Neoplastic Process 1 1 0.100 None 0 1
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 0 2
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: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 7 34 0.800 strong 0.960 1 18 1992 2017
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 11 51 0.800 None 0.977 1 22 1991 2020
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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 13 118 0.700 None 0.947 1 68 1991 2019
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		group Hemic and Lymphatic Diseases Neoplastic Process 11 19 0.500 None 0.983 1 2 1991 2020
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		group Neoplasms Neoplastic Process 4 6 0.500 None 1.000 1 1 2001 2014