TP53, tumor protein p53, 7157

N. diseases: 2494; N. variants: 527
Source: ALL
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: C0597984
Disease: Biliary stricture
Biliary stricture 		disease Digestive System Diseases Anatomical Abnormality 17 0.010 None 1.000 1 2015 2015
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.010 None 1.000 1 2020 2020
CUI: C3826424
Disease: Neural tube--Abnormalities
Neural tube--Abnormalities 		disease Anatomical Abnormality 1 0.010 None 1.000 1 1996 1996
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		disease Anatomical Abnormality 83 20 0.010 None 1.000 1 2 2001 2001
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		disease Anatomical Abnormality 148 18 0.010 None 1.000 1 2016 2016
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube 		phenotype Anatomical Abnormality 22 0.100 None 0
CUI: C4025038
Disease: Abnormality of the tibial metaphysis
Abnormality of the tibial metaphysis 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4025040
Disease: Abnormality of the femoral metaphysis
Abnormality of the femoral metaphysis 		disease Anatomical Abnormality 4 0.100 None 0
CUI: C0025568
Disease: Metaplasia
Metaplasia 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 52 0.010 None 1.000 1 2003 2003
CUI: C0032578
Disease: Polyploidy
Polyploidy 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 4 0.300 None 1.000 1 2014 2014
CUI: C2931713
Disease: Chromosome 17 deletion
Chromosome 17 deletion 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Cell or Molecular Dysfunction 2 0.300 None 1.000 1 2004 2004
CUI: C3683846
Disease: Chromosome 17p Deletion Syndrome
Chromosome 17p Deletion Syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Cell or Molecular Dysfunction 2 0.300 None 1.000 1 2004 2004
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		phenotype Cell or Molecular Dysfunction 151 0.100 None 0
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype Clinical Attribute 507 1037 0.100 None 1.000 2 1 2017 2019
CUI: C0424678
Disease: Lean body mass
Lean body mass 		phenotype Clinical Attribute 144 211 0.100 None 1.000 1 1 2019 2019
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.100 None 1.000 79 5 1991 2019
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.100 None 0.980 49 2 1996 2019
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.100 None 0.980 49 2 1996 2019
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 137 35 0.100 None 0.929 28 1987 2013
CUI: C0026499
Disease: Monosomy
Monosomy 		group Pathological Conditions, Signs and Symptoms Congenital Abnormality 214 11 0.100 None 0.963 27 1991 2019
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia 		disease Congenital Abnormality 181 4 0.200 None 1.000 10 1995 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.080 None 1.000 8 2002 2018
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.080 None 0.875 8 1996 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.150 None 1.000 5 2016 2019
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 559 48 0.050 None 0.800 5 2013 2015