Direct p53 effectors

No Pathway Network information available for Direct p53 effectors

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with Direct p53 effectors SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Inherited cancer-predisposing syndromeEnrichmentAPC, EGFR, MET, MLH1, MSH2, PMS2, PTEN, RB1, SMARCA4, TP53, TSC27.35
2Gastric cancerEnrichmentAPC, CASP10, MLH1, MSH2, PMS2, PTEN, TP536.86
3Squamous cell carcinoma, head and neckEnrichmentEGFR, PTEN, TNFRSF10B, TP536.59
4Ovarian cancerEnrichmentAPC, EGFR, MET, MSH2, PMS2, PTEN, RB1, TP53, TSC26.35
5Hepatocellular carcinomaEnrichmentAPC, MET, PMS2, TP53, VDR5.80
6Small cell cancer of the lungEnrichmentRB1, TP53, TP735.49
7Mismatch repair cancer syndrome 1EnrichmentMLH1, MSH2, PMS25.49
8Lynch syndrome 4EnrichmentMSH2, PMS2, RB15.49
9Breast cancerEnrichmentAPC, JUN, MLH1, MSH2, PMS2, PTEN, TP535.18
10Bladder cancerEnrichmentCDKN1A, EGFR, PTEN, RB1, TP535.16
11Hereditary breast ovarian cancer syndromeEnrichmentDROSHA, MLH1, MSH2, PMS2, PTEN, TP534.90
12RhabdomyosarcomaEnrichmentMSH2, PMS2, PTEN, TP534.90
13Colorectal cancerEnrichmentAPC, BAX, MET, MLH1, MSH2, PMS2, TP534.75
14Endometrial cancerEnrichmentMLH1, MSH2, PMS2, PTEN4.40
15Hereditary breast carcinomaEnrichmentAPC, MLH1, MSH2, PTEN, TP534.25
16Muir-torre syndromeEnrichmentMLH1, MSH24.05
17Intravascular large b-cell lymphomaEnrichmentBCL2, BCL64.05
18Lynch syndrome 1EnrichmentMLH1, MSH2, PMS24.03
19Familial colorectal cancerEnrichmentMLH1, MSH2, TP534.03
20Lip and oral cavity carcinomaEnrichmentEGFR, RB1, TP533.77
21Lung cancerEnrichmentEGFR, FAS, MET, MLH13.65
22Osteogenic sarcomaEnrichmentRB1, TP533.58
23High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, BCL63.58
24Squamous cell carcinomaEnrichmentRB1, TP533.58
25Laryngeal squamous cell carcinomaEnrichmentPTEN, TNFRSF10B3.58
26Bone osteosarcomaEnrichmentRB1, TP533.58
27Lung cancer susceptibility 3EnrichmentEGFR, RB1, TP533.56
28Lynch syndromeEnrichmentMLH1, MSH2, PMS23.46
29GliosarcomaEnrichmentEGFR, MSH2, TP533.38
30Giant cell glioblastomaEnrichmentEGFR, MSH2, TP533.30
31Autoimmune lymphoproliferative syndromeEnrichmentCASP10, FAS3.28
32Diffuse large b-cell lymphomaEnrichmentPMS2, PTEN, TP533.15
33Follicular lymphomaEnrichmentBCL2, BCL63.06
34LymphomaEnrichmentPMS2, TP533.06
35Acute megakaryocytic leukemiaEnrichmentPTEN, TP533.06
36Diffuse cutaneous systemic sclerosisEnrichmentCAV1, IRF53.06
37HepatoblastomaEnrichmentAPC, MSH2, TP533.02
38Li-fraumeni syndromeEnrichmentMDM2, TP532.89
39Cowden syndrome 1EnrichmentEGFR, PTEN2.89
40Limited sclerodermaEnrichmentCAV1, IRF52.89
41Lymphoma, non-hodgkin, familialEnrichmentCASP10, TP532.62
42Adult hepatocellular carcinomaEnrichmentTP53, TSC22.52
43Colonic benign neoplasmEnrichmentAPC, MLH12.52
44Uterine corpus cancerEnrichmentMSH2, PTEN2.34
45CataractEnrichmentCOL18A1, EPHA22.13
46Rapp-hodgkin syndromeEnrichmentTP632.03
47Ankyloblepharon-ectodermal defects-cleft lip/palateEnrichmentTP632.03
48Chiari malformation type iEnrichmentDKK12.03
49Vacterl association with hydrocephalusEnrichmentPTEN2.03
50Split-hand/foot malformation 4EnrichmentTP632.03
51Ankyloblepharon filiforme adnatum and cleft palateEnrichmentTP632.03
52Lipodystrophy, congenital generalized, type 3EnrichmentCAV12.03
53Deafness, autosomal recessive 39EnrichmentHGF2.03
54Adult syndromeEnrichmentTP632.03
55Ceroid lipofuscinosis, neuronal, 10EnrichmentCTSD2.03
56Accelerated tumor formationEnrichmentMDM22.03
57Pulmonary hypertension, primary, 3EnrichmentCAV12.03
58Ciliary dyskinesia, primary, 47, and lissencephalyEnrichmentTP732.03
59Alpha-fetoprotein, hereditary persistence ofEnrichmentAFP2.03
60Lymphoproliferative syndrome, x-linked, 1EnrichmentSH2D1A2.03
61Lessel-kubisch syndromeEnrichmentMDM22.03
62Hyperemesis gravidarumEnrichmentGDF152.03
63Bone marrow failure syndrome 5EnrichmentTP532.03
64Osteofibrous dysplasiaEnrichmentMET2.03
65Papilloma of choroid plexusEnrichmentTP532.03
66Basal cell carcinoma 7EnrichmentTP532.03
67Lynch syndrome 2EnrichmentMLH12.03
68Anaplastic thyroid carcinomaEnrichmentTP532.03
69Plasminogen activator inhibitor-1 deficiencyEnrichmentSERPINE12.03
70Familial cold autoinflammatory syndrome 4EnrichmentNLRC42.03
71Mitochondrial dna depletion syndrome 8bEnrichmentRRM2B2.03
72Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3EnrichmentTP632.03
73Papillary tumor of the pineal regionEnrichmentPTEN2.03
74Lipodystrophy, familial partial, type 7EnrichmentCAV12.03
75Limb-mammary syndromeEnrichmentTP632.03
76Deafness, autosomal recessive 97EnrichmentMET2.03
77Autoinflammation with infantile enterocolitisEnrichmentNLRC42.03
78Systemic lupus erythematosus 10EnrichmentIRF52.03
79Autoimmune lymphoproliferative syndrome, type iiaEnrichmentCASP102.03
80Autism 9EnrichmentMET2.03
81Glutathione peroxidase deficiencyEnrichmentGPX12.03
82Premature ovarian failure 21EnrichmentTP632.03
83Olmsted syndrome 2EnrichmentPERP2.03
84Brugada syndrome 7EnrichmentSCN3B2.03
85Ataxia-telangiectasia-like disorder 2EnrichmentPCNA2.03
86Alpha-fetoprotein deficiencyEnrichmentAFP2.03
87Inflammatory bowel disease 14EnrichmentIRF52.03
88Glioma susceptibility 2EnrichmentPTEN2.03
89Ductal carcinoma in situEnrichmentTP532.03
90Smarca4-deficient sarcoma of thoraxEnrichmentSMARCA42.03
91Ovarian small cell carcinomaEnrichmentSMARCA42.03
92Deafness, autosomal dominant 75EnrichmentTRRAP2.03
93Orofacial cleft 8EnrichmentTP632.03
94Mismatch repair cancer syndrome 2EnrichmentMSH22.03
95Lopes-maciel-rodan syndromeEnrichmentHTT2.03
96Mismatch repair cancer syndrome 4EnrichmentPMS22.03
97Intellectual developmental disorder with hypertelorism and distinctive faciesEnrichmentCCNK2.03
98Developmental delay with or without dysmorphic facies and autismEnrichmentTRRAP2.03
99Erythrokeratodermia variabilis et progressiva 7EnrichmentPERP2.03
100Rectal benign neoplasmEnrichmentMSH22.03
101Thyroid gland undifferentiated carcinomaEnrichmentTP532.03
102Trilateral retinoblastomaEnrichmentRB12.03
103Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.03
104Arthrogryposis, distal, type 11EnrichmentMET2.03
105RicketsEnrichmentVDR2.03
106Pituitary cancerEnrichmentPMS22.03
107Ascending colon cancerEnrichmentMSH22.03
108Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.03
109Tp63-related disordersEnrichmentTP632.03
110Choroid plexus cancerEnrichmentTP532.03
111Ovarian cystEnrichmentMSH22.03
112Familial adenomatous polyposisEnrichmentAPC2.03
113Pleomorphic xanthoastrocytomaEnrichmentTP532.03
114Congenital plasminogen activator inhibitor type 1 deficiencyEnrichmentSERPINE12.03
115Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephalyEnrichmentPIDD12.03
116Juvenile huntington diseaseEnrichmentHTT2.03
117Gardner syndromeEnrichmentAPC2.03
118Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeEnrichmentFDXR2.03
1195q22 microdeletion syndromeEnrichmentAPC2.03
120Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.03
121Attenuated familial adenomatous polyposisEnrichmentAPC2.03
122Rrm2b mitochondrial dna maintenance defectsEnrichmentRRM2B2.03
123Periodic fever-infantile enterocolitis-autoinflammatory syndromeEnrichmentNLRC42.03
124Lung oat cell carcinomaEnrichmentRB12.03
125Arteriovenous malformations of the brainEnrichmentEGFR, MAP4K41.87
126Fanconi renotubular syndrome 1EnrichmentRRM2B1.73
127Burkitt lymphomaEnrichmentPMS21.73
128Wagner vitreoretinopathyEnrichmentVCAN1.73
129Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1EnrichmentTP631.73
130Adrenocortical carcinoma, hereditaryEnrichmentTP531.73
131Albinism, oculocutaneous, type iiiEnrichmentTYRP11.73
132Cervical cancerEnrichmentTP531.73
133Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunctionEnrichmentRRM2B1.73
134Xeroderma pigmentosum, complementation group eEnrichmentDDB21.73
135Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5EnrichmentRRM2B1.73
136Rhabdoid tumor predisposition syndrome 2EnrichmentSMARCA41.73
137Piebald traitEnrichmentSNAI21.73
138LymphangioleiomyomatosisEnrichmentTSC21.73
139Mitochondrial dna depletion syndrome 8aEnrichmentRRM2B1.73
140Anemia, hypochromic microcytic, with iron overload 2EnrichmentSTEAP31.73
141Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2EnrichmentRRM2B1.73
142Chromosome 13q14 deletion syndromeEnrichmentRB11.73
143Lymphoma, hodgkin, classicEnrichmentTP531.73
144Skin/hair/eye pigmentation, variation in, 11EnrichmentTYRP11.73
145Charcot-marie-tooth disease, demyelinating, type 4dEnrichmentNDRG11.73
146Ataxia, intention tremor, and hypotonia syndrome, childhood-onsetEnrichmentPOU4F11.73
147Childhood hepatocellular carcinomaEnrichmentMET1.73
148Bladder exstrophyEnrichmentTP631.73
149Rhabdoid tumor predisposition syndromeEnrichmentSMARCA41.73
150Lymphoproliferative syndromeEnrichmentSH2D1A1.73
151Papillary renal cell carcinomaEnrichmentMET1.73
152PineoblastomaEnrichmentDROSHA1.73
153Congenital fibrosarcomaEnrichmentTP531.73
154Li-fraumeni syndrome 1EnrichmentTP531.73
155SarcomaEnrichmentTP531.73
156Glaucoma, primary closed-angleEnrichmentCOL18A11.73
157Otosclerosis 12EnrichmentSMARCA41.73
158Coffin-siris syndrome 4EnrichmentSMARCA41.73
159Periampullary adenomaEnrichmentAPC1.73
160Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC1.73
161Cervix carcinomaEnrichmentTP531.73
162Hodgkin's lymphomaEnrichmentTP531.73
163Fissured tongueEnrichmentTP631.73
164Charcot-marie-tooth disease type 4dEnrichmentNDRG11.73
165Wagner diseaseEnrichmentVCAN1.73
166Vacterl with hydrocephalusEnrichmentPTEN1.73
167Primary mediastinal large b-cell lymphomaEnrichmentBCL61.73
168Familial retinoblastomaEnrichmentRB11.73
169Juvenile polyposis of infancyEnrichmentPTEN1.73
170Xeroderma pigmentosum group eEnrichmentDDB21.73
171Pleomorphic rhabdomyosarcomaEnrichmentTP531.73
172Autoinflammatory diseaseEnrichmentNLRC4, SH2D1A1.67
173Desmoid disease, hereditaryEnrichmentAPC1.55
174RetinoblastomaEnrichmentRB11.55
175Tuberous sclerosis 1EnrichmentTSC21.55
176Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.55
177Multicentric osteolysis, nodulosis, and arthropathyEnrichmentMMP21.55
178Osteoporosis, juvenileEnrichmentDKK11.55
179Nasopharyngeal carcinomaEnrichmentTP531.55
180Tuberous sclerosis 2EnrichmentTSC21.55
181Cenani-lenz syndactyly syndromeEnrichmentAPC1.55
182Woolly hair, autosomal recessive 3EnrichmentRB11.55
183Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.55
184Miller-dieker lissencephaly syndromeEnrichmentHIC11.55
185Cerebellar dysfunction with variable cognitive and behavioral abnormalitiesEnrichmentPOU4F11.55
186Anus, imperforateEnrichmentMAP4K41.55
187Auditory neuropathy and optic atrophyEnrichmentFDXR1.55
188Hypotrichosis 8EnrichmentRB11.55
189Multiple mitochondrial dysfunctions syndrome 9bEnrichmentFDXR1.55
190Desmoid tumorEnrichmentAPC1.55
191Dedifferentiated liposarcomaEnrichmentMDM21.55
192Mutilating palmoplantar keratoderma with periorificial keratotic plaquesEnrichmentPERP1.55
193HamartomaEnrichmentTSC21.55
194Atypical teratoid rhabdoid tumorEnrichmentTP531.55
195Anaplastic astrocytomaEnrichmentTP531.55
196Xanthinuria, type iiEnrichmentTSC21.55
197Cellular ependymomaEnrichmentMSH21.55
198Tanycytic ependymomaEnrichmentMSH21.55
199Papillary ependymomaEnrichmentMSH21.55
200T-cell acute lymphoblastic leukemiaEnrichmentBAX1.55
201AdenocarcinomaEnrichmentTP531.55
202Respiratory failureEnrichmentTP731.55
203Idiopathic camptocormiaEnrichmentRRM2B1.55
204Colon adenocarcinomaEnrichmentAPC1.55
205Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.55
206Well-differentiated liposarcomaEnrichmentMDM21.55
207Clear cell ependymomaEnrichmentMSH21.55
208Renal cell carcinomaEnrichmentMET1.55
209Vogt-koyanagi-harada diseaseEnrichmentFAS1.55
210Apc-associated polyposis conditionsEnrichmentAPC1.55
211Prostate cancerEnrichmentPTEN, TP531.52
212Huntington diseaseEnrichmentHTT1.43
213Thyroid cancer, nonmedullary, 1EnrichmentTP531.43
214Focal cortical dysplasia, type iiEnrichmentTSC21.43
215Mhc class i deficiency 1EnrichmentTAP11.43
216Lung sarcomatoid carcinomaEnrichmentTP531.43
217Mhc class i deficiencyEnrichmentTAP11.43
218Tuberous sclerosisEnrichmentTSC21.43
219Embryonal rhabdomyosarcomaEnrichmentTP531.43
220CraniopharyngiomaEnrichmentAPC1.43
221Knobloch syndromeEnrichmentCOL18A11.43
222Immunodeficiency by defective expression of mhc class iEnrichmentTAP11.43
223Pediatric systemic lupus erythematosusEnrichmentSPP11.43
224Isolated focal cortical dysplasia type iiEnrichmentTSC21.43
225GliomaEnrichmentPTEN1.43
226Benign ependymomaEnrichmentMSH21.43
227Cleft lip and alveolusEnrichmentTP631.43
228Pseudomyogenic hemangioendotheliomaEnrichmentSERPINE11.43
229Cataract 6, multiple typesEnrichmentEPHA21.33
230Albinism, oculocutaneous, type iiEnrichmentTYRP11.33
231Kearns-sayre syndromeEnrichmentRRM2B1.33
232Vitamin d-dependent rickets, type 2aEnrichmentVDR1.33
233Rhabdomyosarcoma 2EnrichmentTP531.33
234Macrocephaly/autism syndromeEnrichmentPTEN1.33
235Knobloch syndrome 1EnrichmentCOL18A11.33
236Breast-ovarian cancer, familial 2EnrichmentPMS21.33
237Familial adenomatous polyposis 1EnrichmentAPC1.33
238GlioblastomaEnrichmentMSH21.33
239HemangiomaEnrichmentPTEN1.33
240Cleft upper lipEnrichmentTP631.33
241HemimegalencephalyEnrichmentPTEN1.33
242AniridiaEnrichmentEPHA21.33
243Systemic lupus erythematosusEnrichmentIRF5, SPP11.28
244Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1EnrichmentRRM2B1.26
245Albinism, ocular, type iEnrichmentTYRP11.26
246Adrenocortical carcinomaEnrichmentTP531.26
247Breast adenocarcinomaEnrichmentTP531.26
248Lung squamous cell carcinomaEnrichmentEGFR1.26
249AlbinismEnrichmentTYRP11.26
250Esophageal cancerEnrichmentTP531.19
251Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC21.19
252Multiple endocrine neoplasia, type iEnrichmentCDKN1A1.19
253Thyroid cancer, nonmedullary, 2EnrichmentPTEN1.19
254Waardenburg syndrome, type 2eEnrichmentSNAI21.19
255Renal cell carcinoma, papillary, 1EnrichmentMET1.19
256Oculocutaneous albinismEnrichmentTYRP11.19
257Polycystic kidney disease 1EnrichmentTSC21.19
258Essential thrombocythemiaEnrichmentTP531.19
259Gallbladder cancerEnrichmentTP531.19
260Follicular thyroid carcinomaEnrichmentPTEN1.19
261B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.19
262Arthrogryposis, distal, type 1aEnrichmentMET1.14
263Glioma susceptibility 1EnrichmentTP531.14
264Renal hypodysplasia/aplasia 1EnrichmentMAP4K41.14
265NeuroblastomaEnrichmentSMARCA41.14
266Isolated split hand-split foot malformationEnrichmentTP631.14
267Early-onset posterior polar cataractEnrichmentEPHA21.14
268Sensorineural hearing lossEnrichmentHGF, RRM2B1.12
269Rheumatoid arthritisEnrichmentIRF51.09
270Primary hyperaldosteronismEnrichmentTP531.09
271Ventricular septal defectEnrichmentSMARCA41.09
272Primary biliary cholangitisEnrichmentIRF51.09
273Cowden syndromeEnrichmentPTEN1.09
274Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentRRM2B1.09
275Leukemia, chronic lymphocyticEnrichmentTP531.04
276Stickler syndromeEnrichmentVCAN1.04
277MelanomaEnrichmentPTEN1.04
278Xeroderma pigmentosum, variant typeEnrichmentDDB21.00
279Meningioma, familialEnrichmentPTEN1.00
280Myelodysplastic syndromeEnrichmentTP531.00
281Cardiomyopathy, familial hypertrophic, 9EnrichmentPMS21.00
282Atrial heart septal defectEnrichmentSMARCA41.00
283Lung non-small cell carcinomaEnrichmentEGFR1.00
284Heritable pulmonary arterial hypertensionEnrichmentCAV11.00
285Interatrial communicationEnrichmentSMARCA41.00
286Primary ovarian insufficiencyEnrichmentAFP, TP630.97
287MeningiomaEnrichmentPTEN0.97
288Hypercholesterolemia, familial, 1EnrichmentSMARCA40.94
289Breast-ovarian cancer, familial 1EnrichmentMSH20.94
290Pulmonary disease, chronic obstructiveEnrichmentVDR0.94
291Acute promyelocytic leukemiaEnrichmentPML0.94
292Premature menopauseEnrichmentTP630.94
293MedulloblastomaEnrichmentAPC0.91
294Cleft lip/palateEnrichmentTP630.91
295Coffin-siris syndrome 1EnrichmentSMARCA40.88
296Renal cell carcinoma, nonpapillaryEnrichmentMET0.88
297Familial hypercholesterolemiaEnrichmentSMARCA40.88
298Neuronal ceroid lipofuscinosisEnrichmentCTSD0.88
299Autosomal dominant polycystic kidney diseaseEnrichmentTSC20.88
300Male infertility with spermatogenesis disorderEnrichmentTP630.88
301Cleft palate, isolatedEnrichmentSMARCA40.83
302Cataract 44EnrichmentEPHA20.83
303Charcot-marie-tooth disease type 4EnrichmentNDRG10.80
304Early-onset nuclear cataractEnrichmentEPHA20.80
305Behcet syndromeEnrichmentFAS0.78
306Cardiomyopathy, dilated, 1gEnrichmentPMS20.72
307Tooth agenesisEnrichmentTGFA0.72
308Diamond-blackfan anemia 1EnrichmentTP530.71
309Familial atrial fibrillationEnrichmentSCN3B0.69
310Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentHGF, MET0.69
311Pancreatic cancerEnrichmentTP530.68
312Brugada syndromeEnrichmentSCN3B0.66
313Auditory neuropathyEnrichmentFDXR0.66
314Severe covid-19EnrichmentCASP100.62
315Stargardt disease 1EnrichmentCOL18A10.61
316Congenital nervous system abnormalityEnrichmentPTEN, TSC20.58
317Nervous system diseaseEnrichmentPTEN, TSC20.58
318Autism spectrum disorderEnrichmentPTEN, TSC20.56
319Diamond-blackfan anemiaEnrichmentTP530.54
320Cerebral palsyEnrichmentSMARCA40.51
321Leukemia, acute myeloidEnrichmentTP530.50
322Charcot-marie-tooth diseaseEnrichmentNDRG10.49
323West syndromeEnrichmentTSC20.47
324Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentTRRAP0.41
325Myeloma, multipleEnrichmentTP530.38
326Mitochondrial diseaseEnrichmentRRM2B0.25
327Retinitis pigmentosaEnrichmentCOL18A1, RRM2B0.22
328Complex neurodevelopmental disorderEnrichmentHTT0.16
329Hereditary retinal dystrophyEnrichmentCOL18A1, VCAN0.12
330Fundus dystrophyEnrichmentCOL18A1, VCAN0.12

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