Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
0.090 Biomarker BEFREE Clonal heterogeneity in the 5q- syndrome: p53 expressing progenitors prevail during lenalidomide treatment and expand at disease progression. 19797731

2009

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
0.090 AlteredExpression BEFREE Heterozygous loss of the RPS14 gene on 5q leads to activation of p53 in the erythroid lineage and the macrocytic anemia characteristic of the 5q-syndrome. 21943668

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
0.090 Biomarker BEFREE Our findings indicate that Len restores MDM2 functionality in the 5q- syndrome to overcome p53 activation in response to nucleolar stress, and therefore may warrant investigation in other disorders of ribosomal biogenesis. 22525275

2013

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
0.090 Biomarker BEFREE It is now recognized that p53 activation, caused by haploinsufficiency for the ribosomal gene RPS14 (mapping to the commonly deleted region), is the probable cause of the erythroid defect in the 5q- syndrome. 22571696

2012

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
0.090 Biomarker BEFREE L-Leucine improves the anaemia in models of Diamond Blackfan anaemia and the 5q- syndrome in a TP53-independent way. 25098371

2014

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
0.090 Biomarker BEFREE Recently, two novel mouse models have provided evidence for the involvement of both RPS14 and the p53 pathway, and specific miRNAs in 5q- syndrome. 20980806

2010

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
0.090 Biomarker BEFREE Emerging evidence supports the notion that the p53 activation observed in the mouse model may also apply to the human 5q- syndrome. 20733155

2010

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
0.090 Biomarker BEFREE Ribosomal protein S14 (RPS14) plays a key role in erythropoiesis and causes p53 activation in 5q- syndrome. 24074450

2014

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome
0.090 AlteredExpression BEFREE We found that p53 accumulates selectively in the erythroid lineage in primary human hematopoietic progenitor cells after expression of shRNAs targeting RPS14, the ribosomal protein gene deleted in the 5q-syndrome, or RPS19, the most commonly mutated gene in DBA. 21068437

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0000735
Disease: Abdominal Neoplasms
Abdominal Neoplasms
0.010 GeneticVariation BEFREE Neuroblastoma is the most common pediatric abdominal tumor and principally a p53 wild-type, highly vascular, aggressive tumor, with limited response to anti-VEGF therapies alone. 21484514

2011

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker HPO

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
0.010 Biomarker BEFREE We present evidence for a specific role of p53 in the mitochondria-associated cellular dysfunction and behavioral abnormalities of Huntington's disease (HD). 15996546

2005

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0855742
Disease: Abnormal platelet morphology
Abnormal platelet morphology
0.100 Biomarker HPO

Entrez Id: 7157
Gene Symbol: TP53
TP53
Abnormal serum dehydroepiandrosterone level
0.100 Biomarker HPO

Entrez Id: 7157
Gene Symbol: TP53
TP53
Abnormality of metabolism/homeostasis
0.100 Biomarker HPO

Entrez Id: 7157
Gene Symbol: TP53
TP53
Abnormality of reproductive system physiology
0.100 Biomarker HPO

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0281842
Disease: Abnormality of the fallopian tube
Abnormality of the fallopian tube
0.100 Biomarker HPO

Entrez Id: 7157
Gene Symbol: TP53
TP53
Abnormality of the femoral metaphysis
0.100 Biomarker HPO

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
0.010 Biomarker BEFREE More importantly, we show that genetic inhibition of tp53 can suppress neuroepithelial cell death and ameliorate the skeletal anomalies in polr1c and polr1d mutants, providing a potential avenue to prevent the pathogenesis of Treacher Collins syndrome. 27448281

2016

Entrez Id: 7157
Gene Symbol: TP53
TP53
Abnormality of the tibial metaphysis
0.100 Biomarker HPO

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue
0.100 CausalMutation CLINVAR

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C4025655
Disease: Abnormality of urine homeostasis
Abnormality of urine homeostasis
0.100 Biomarker HPO

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C0267756
Disease: Abscess of peritoneum
Abscess of peritoneum
0.100 Biomarker HPO

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1321756
Disease: Achalasia
Achalasia
0.020 GeneticVariation BEFREE (1.) p53 alterations, overexpression and mutational change, are an early event in patients with achalasia; (2.) 10757119

2000

Entrez Id: 7157
Gene Symbol: TP53
TP53
CUI: C1321756
Disease: Achalasia
Achalasia
0.020 GeneticVariation BEFREE We applied a fluorescence in situ hybridization technique in 20 such patients and found aneuploidies of chromosomes 7, 11, and 17 in 60% (12 of 20 specimens) and deletion of the TP53 gene in 54.5% (6 of 11 specimens; it was only possible to obtain data by FISH technique from 11 of the 20 achalasia patients). 15104278

2004