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: 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: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 2 157 1.000 definitive 0.977 322 153 1988 2020
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: C0030312
Disease: Pancytopenia
Pancytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 9 0.150 None 1.000 0 1 1998 2019
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: C2675080
Disease: Li-Fraumeni-Like Syndrome
Li-Fraumeni-Like Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases Disease or Syndrome 1 5 0.200 None 0.963 0 5 1995 2019
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: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		phenotype Finding 11 34 0.100 None 1.000 1 2 2016 2016
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 190 292 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: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		phenotype Finding 1 2 0.100 None 0 2
CUI: C1857641
Disease: Severe postnatal growth retardation
Severe postnatal growth retardation 		phenotype Finding 2 5 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: 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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 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: 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: 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
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
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