Regulation of TP53 Activity

Pathway network for the Regulation of TP53 Activity SuperPath

Sources:
  • Reactome

Pathways in the Regulation of TP53 Activity SuperPath

#NameSourceGenes
1Regulation of TP53 ActivityReactome
2Transcriptional Regulation by TP53Reactome
(see all 347) (see less)
3Regulation of TP53 Activity through PhosphorylationReactome
4Regulation of TP53 Activity through MethylationReactome
5Regulation of TP53 Activity through Association with Co-factorsReactome

Gene overlap in member pathways for Regulation of TP53 Activity SuperPath

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

Disorders associated with Regulation of TP53 Activity SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Pancreatic cancerEnrichmentATM, BRCA1, BRIP1, CDKN2A, CHEK2, NBN, RBBP8, STK11, TP5316.00
2Breast cancerEnrichmentAKT1, ATM, BARD1, BLM, BRCA1, BRIP1, CHEK2, FANCC, JUN, MLH1, MRE11, MSH2, NBN, PMS2, PTEN, RAD50, RAD51D, TP5316.00
3Ovarian cancerEnrichmentAKT1, ATM, BARD1, BLM, BRCA1, BRIP1, CDKN1B, CDKN2A, CHEK2, ERCC2, ERCC3, FANCC, FANCD2, MRE11, MSH2, NBN, PMS2, PTEN, RAD50, RAD51D, TP53, TSC2, WRN16.00
4Hereditary breast ovarian cancer syndromeEnrichmentATM, BARD1, BLM, BRCA1, BRIP1, CHEK2, MLH1, MRE11, MSH2, NBN, PLK2, PMS2, PTEN, RAD50, RAD51D, TP5311.36
5Hereditary breast carcinomaEnrichmentATM, BARD1, BLM, BRCA1, BRIP1, CHEK2, NBN, RAD50, TP5310.96
6Gastric cancerEnrichmentATM, BARD1, BRCA1, BRIP1, CASP10, CDKN2A, CHEK2, FANCI, MLH1, MSH2, NBN, PMS2, PTEN, RAD51D, STK11, TP5310.91
7Inherited cancer-predisposing syndromeEnrichmentATM, BARD1, BLM, BRCA1, BRIP1, CDKN1B, CDKN2A, CHEK2, ERCC3, FANCC, MLH1, MRE11, MSH2, NBN, PMS2, PTEN, RAD50, RAD51D, STK11, TP53, TSC1, TSC210.72
8Colorectal cancerEnrichmentAKT1, ATM, AURKA, BLM, BRCA1, BRIP1, CHEK2, EP300, FANCC, FANCI, MLH1, MSH2, MT-CO1, PMS2, RAD51D, RMI1, TP5310.18
9Cox deficiency, benign infantile mitochondrial myopathyEnrichmentCOX4I1, COX5A, COX6A2, COX6B1, COX8A, MT-CO1, MT-CO2, MT-CO39.36
10Endometrial cancerEnrichmentATM, BARD1, BLM, BRCA1, CHEK2, MLH1, MSH2, PMS2, PTEN9.02
11Breast-ovarian cancer, familial 1EnrichmentATM, BRCA1, BRIP1, CHEK2, MSH2, NBN, RAD51D7.99
12Li-fraumeni syndromeEnrichmentCHEK2, MDM2, TP537.33
13Lynch syndrome 1EnrichmentATM, CHEK2, MLH1, MSH2, PMS2, RAD51D7.29
14Uterine corpus cancerEnrichmentATM, BRCA1, BRIP1, CHEK2, MSH2, PTEN6.95
15Focal cortical dysplasia, type iiEnrichmentMTOR, RHEB, TSC1, TSC26.38
16Isolated focal cortical dysplasia type iiEnrichmentMTOR, RHEB, TSC1, TSC26.38
17Bladder cancerEnrichmentATM, BRCA1, CDKN1A, CDKN2A, ERCC2, PTEN, TP53, TSC16.34
18Prostate cancerEnrichmentATM, BRCA1, CHEK2, NBN, TP535.87
19Li-fraumeni syndrome 1EnrichmentCHEK2, TP535.73
20SarcomaEnrichmentCHEK2, TP535.73
21Seckel syndromeEnrichmentATR, ATRIP, DNA2, RBBP85.73
22HemimegalencephalyEnrichmentAKT3, MTOR, PTEN, RHEB5.69
23Familial colorectal cancerEnrichmentMLH1, MSH2, MT-CO1, MT-CO2, TP535.62
24Diffuse large b-cell lymphomaEnrichmentCHEK2, CREBBP, NBN, PMS2, PTEN, TP535.26
25Osteogenic sarcomaEnrichmentCHEK2, TP535.25
26AdenocarcinomaEnrichmentATM, TP535.25
27Bone osteosarcomaEnrichmentCHEK2, TP535.25
28Breast adenocarcinomaEnrichmentAKT1, TP535.14
29Mitochondrial complex iv deficiency, nuclear type 1EnrichmentCOX4I1, COX6B1, COX8A, MT-CO1, MT-CO2, MT-CO34.85
30Colonic benign neoplasmEnrichmentATM, CHEK2, MRE114.61
31RhabdomyosarcomaEnrichmentBRCA1, MSH2, PMS2, PTEN, TP534.43
32Microcephaly, growth restriction, and increased sister chromatid exchange 2EnrichmentRMI2, TOP3A4.34
33Mismatch repair cancer syndrome 1EnrichmentMLH1, MSH2, PMS24.19
34MelanomaEnrichmentCDKN2A, CHEK2, PTEN, STK114.11
35Leukemia, chronic lymphocyticEnrichmentATM, TP534.08
36Familial colorectal cancer type xEnrichmentATM, CHEK23.99
37GliosarcomaEnrichmentATM, TP533.66
38Giant cell glioblastomaEnrichmentATM, TP533.60
39Nijmegen breakage syndrome-like disorderEnrichmentMRE11, RAD503.57
40Lip and oral cavity carcinomaEnrichmentCDKN2A, STK11, TP533.53
41Hepatocellular carcinomaEnrichmentNBN, RAD50, TP533.37
42Myeloma, multipleEnrichmentATM, AURKA, BARD1, SGK1, TP533.36
43Lynch syndromeEnrichmentCHEK2, MLH1, MSH2, PMS23.34
44Muir-torre syndromeEnrichmentMLH1, MSH23.19
45LymphangioleiomyomatosisEnrichmentTSC1, TSC23.19
46Acute myeloid leukemia with kat6a-crebbp fusionEnrichmentCREBBP, KAT6A3.19
47Proteus syndromeEnrichmentAKT13.13
48Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT23.13
49Arrhythmogenic cardiomyopathy with variable ectodermal abnormalitiesEnrichmentPPP1R13L3.13
50Bone marrow failure syndrome 5EnrichmentTP533.13
51Papilloma of choroid plexusEnrichmentTP533.13
52Basal cell carcinoma 7EnrichmentTP533.13
53Anaplastic thyroid carcinomaEnrichmentTP533.13
54Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT33.13
55Cowden syndrome 6EnrichmentAKT13.13
56Ductal carcinoma in situEnrichmentTP533.13
57Thyroid gland undifferentiated carcinomaEnrichmentTP533.13
58Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP533.13
59Capillary hemangiomaEnrichmentAKT33.13
60Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP533.13
61Choroid plexus cancerEnrichmentTP533.13
62Multiple congenital anomalies/dysmorphic syndromeEnrichmentPPP1R13L3.13
63Pleomorphic xanthoastrocytomaEnrichmentTP533.13
64Akt2-related familial partial lipodystrophyEnrichmentAKT23.13
65Mitochondrial myopathy, infantile, transientEnrichmentMT-CO1, MT-CO2, MT-CO32.91
66Adult hepatocellular carcinomaEnrichmentTP53, TSC1, TSC22.91
67TrichothiodystrophyEnrichmentERCC2, ERCC3, GTF2H52.91
68Accelerated tumor formationEnrichmentMDM22.85
69Lessel-kubisch syndromeEnrichmentMDM22.85
70Bone marrow failure syndrome 6EnrichmentMDM42.85
71Tumor predisposition syndrome 4EnrichmentCHEK22.85
72Endometrial serous adenocarcinomaEnrichmentATM2.85
73LeiomyosarcomaEnrichmentCHEK22.85
74B-cell non-hodgkin lymphomaEnrichmentATM2.85
75Adrenocortical carcinoma, hereditaryEnrichmentTP532.83
76Cervical cancerEnrichmentTP532.83
77Lymphoma, hodgkin, classicEnrichmentTP532.83
78Ataxia, intention tremor, and hypotonia syndrome, childhood-onsetEnrichmentPOU4F12.83
79Senior-loken syndrome 7EnrichmentAKT32.83
80Congenital fibrosarcomaEnrichmentTP532.83
81Cervix carcinomaEnrichmentTP532.83
82Hodgkin's lymphomaEnrichmentTP532.83
83Bardet-biedl syndrome 16EnrichmentAKT32.83
84Pleomorphic rhabdomyosarcomaEnrichmentTP532.83
85Mitochondrial myopathy with reversible cytochrome c oxidase deficiencyEnrichmentMT-CO1, MT-CO2, MT-CO32.76
86HepatoblastomaEnrichmentBARD1, ERCC2, MSH2, TP532.75
87Fanconi anemia, complementation group aEnrichmentBRCA1, BRIP1, FANCC, FANCD2, FANCI2.74
88Adrenocortical carcinomaEnrichmentCDKN2A, TP532.72
89Tuberous sclerosis 1EnrichmentTSC1, TSC22.72
90HamartomaEnrichmentTSC1, TSC22.72
91Nasopharyngeal carcinomaEnrichmentTP532.66
92Cerebellar dysfunction with variable cognitive and behavioral abnormalitiesEnrichmentPOU4F12.66
93Atypical teratoid rhabdoid tumorEnrichmentTP532.66
94Anaplastic astrocytomaEnrichmentTP532.66
95Squamous cell carcinomaEnrichmentTP532.66
96Xeroderma pigmentosum, variant typeEnrichmentDDB2, ERCC2, ERCC32.63
97Renal cell carcinoma, papillary, 1EnrichmentATM, MTOR2.58
98B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A, TP532.58
99Congenital heart defects, multiple types, 3EnrichmentCHEK22.55
100Cardiac valvular dysplasia, x-linkedEnrichmentATM2.55
101Menke-hennekam syndrome 2EnrichmentEP3002.55
102Kleefstra syndromeEnrichmentEHMT12.55
103High grade gliomaEnrichmentATM2.55
104T-cell prolymphocytic leukemiaEnrichmentATM2.55
105Kleefstra syndrome due to a point mutationEnrichmentEHMT12.55
106Submucosal cleft palateEnrichmentUBB2.55
107Cleft hard palateEnrichmentUBB2.55
108Small cell cancer of the lungEnrichmentTP532.53
109Thyroid cancer, nonmedullary, 1EnrichmentTP532.53
110Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT32.53
111Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT32.53
112Lung sarcomatoid carcinomaEnrichmentTP532.53
113Orofacial cleftEnrichmentPPP1R13L2.53
114Embryonal rhabdomyosarcomaEnrichmentTP532.53
115Noonan syndrome with multiple lentiginesEnrichmentPPP1R13L2.53
116Orofacial clefting syndromeEnrichmentPPP1R13L2.53
117Nk-cell enteropathyEnrichmentAURKB, CHEK22.47
118Rhabdomyosarcoma 2EnrichmentTP532.43
119LymphomaEnrichmentTP532.43
120Acute megakaryocytic leukemiaEnrichmentTP532.43
121Lynch syndrome 4EnrichmentMSH2, PMS22.42
122Tuberous sclerosisEnrichmentTSC1, TSC22.42
123Hereditary recurrent myoglobinuriaEnrichmentMT-CO1, MT-CO32.42
124Ataxia-telangiectasiaEnrichmentATM2.38
125Polycythemia veraEnrichmentATM2.38
126Uvula, bifidEnrichmentUBB2.38
127Cleft soft palateEnrichmentUBB2.38
128Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphismEnrichmentTTC52.38
129Koolen-de vries syndromeEnrichmentATM2.38
130Dedifferentiated liposarcomaEnrichmentMDM22.38
131Well-differentiated liposarcomaEnrichmentMDM22.38
132Esophageal cancerEnrichmentTP532.29
133Squamous cell carcinoma, head and neckEnrichmentTP532.29
134Essential thrombocythemiaEnrichmentTP532.29
135Gallbladder cancerEnrichmentTP532.29
136MegacolonEnrichmentAKT32.29
137PolymicrogyriaEnrichmentAKT3, EHMT12.26
138Mantle cell lymphomaEnrichmentATM2.25
139Hemoglobin c diseaseEnrichmentCHEK22.25
140Oculomotor apraxiaEnrichmentATM2.25
141Lung cancerEnrichmentBRCA1, CHEK2, PPP2R1B2.24
142Glioma susceptibility 1EnrichmentTP532.23
143Lymphoma, non-hodgkin, familialEnrichmentTP532.23
144Rare genetic intellectual disabilityEnrichmentCREBBP, EP300, MTOR2.22
145Fanconi anemia, complementation group d2EnrichmentBRIP1, FANCD22.21
146Breast-ovarian cancer, familial 2EnrichmentBRCA1, PMS22.21
147GlioblastomaEnrichmentATM, MSH22.21
148Xeroderma pigmentosum-cockayne syndrome complexEnrichmentERCC2, ERCC32.21
149Primary hyperaldosteronismEnrichmentTP532.18
150Cowden syndromeEnrichmentAKT12.18
151Leukemia, acute lymphoblasticEnrichmentCDKN2A, NBN2.18
152Palmoplantar keratoderma, punctate type iiEnrichmentBRCA12.17
153Bloom syndromeEnrichmentBLM2.17
154Intellectual developmental disorder, x-linked, syndromic 33EnrichmentTAF12.17
155Dystonia 3, torsion, x-linkedEnrichmentTAF12.17
156Seckel syndrome 2EnrichmentRBBP82.17
157Fanconi anemia, complementation group jEnrichmentBRIP12.17
158Seckel syndrome 1EnrichmentATR2.17
159Neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformityEnrichmentTAF22.17
160Seckel syndrome 8EnrichmentDNA22.17
161Lissencephaly 7 with cerebellar hypoplasiaEnrichmentCDK52.17
162Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6EnrichmentRPA12.17
163Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6EnrichmentDNA22.17
164Cardiomyopathy, familial hypertrophic, 6EnrichmentPRKAG22.17
165Infant-type hemispheric gliomaEnrichmentBRCA12.17
166Jawad syndromeEnrichmentRBBP82.17
167Glycogen storage disease of heart, lethal congenitalEnrichmentPRKAG22.17
168Ataxia-telangiectasia-like disorder 1EnrichmentMRE112.17
169Cutaneous telangiectasia and cancer syndrome, familialEnrichmentATR2.17
170Spermatogenic failure 13EnrichmentTAF4B2.17
171Neurocardiofaciodigital syndromeEnrichmentMAPKAPK52.17
172Alazami-yuan syndromeEnrichmentTAF62.17
173Skeletal muscle glycogen content and metabolism quantitative trait locusEnrichmentPRKAG32.17
174Intellectual developmental disorder, autosomal recessive 60EnrichmentTAF132.17
175Okur-chung neurodevelopmental syndromeEnrichmentCSNK2A12.17
176Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5EnrichmentTOP3A2.17
177Neurodevelopmental disorder with dysmorphic facies and thin corpus callosumEnrichmentSUPT16H2.17
178Craniodigital syndrome and intellectual disability syndromeEnrichmentCSNK2B2.17
179Rothmund-thomson syndrome, type 4EnrichmentDNA22.17
180Morimoto-ryu-malicdan neuromuscular syndromeEnrichmentRFC42.17
181Oocyte/zygote/embryo maturation arrest 21EnrichmentCHEK12.17
182X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeEnrichmentTAF12.17
183Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndromeEnrichmentATR2.17
184Intestinal polyposis syndromeEnrichmentSTK112.17
185Primary peritoneal carcinomaEnrichmentBRCA12.17
186Autism spectrum disorderEnrichmentCDK13, CSNK2A1, CSNK2B, EHMT1, KAT6A, PTEN, TNRC6B, TSC22.16
187Rubinstein-taybi syndrome 2EnrichmentEP3002.16
188Myelodysplastic syndromeEnrichmentTP532.09
189Rubinstein-taybi syndrome 1EnrichmentEP3002.08
190Wilms tumor 5EnrichmentCHEK22.08
191Kleefstra syndrome 1EnrichmentEHMT12.08
192Chromosome 16p13.3 deletion syndrome, proximalEnrichmentEP3002.08
193Clear cell renal cell carcinomaEnrichmentATM2.08
194MeningiomaEnrichmentAKT12.05
195Lung cancer susceptibility 3EnrichmentTP531.99
196Spermatogenic failure, x-linked, 9EnrichmentRBBP71.94
197Gand syndromeEnrichmentGATAD2B1.94
198Intellectual developmental disorder with dysmorphic facies and ptosisEnrichmentBRPF11.94
199Houge-janssens syndrome 4EnrichmentPPP2R5C1.94
200Houge-janssens syndrome 2EnrichmentPPP2R1A1.94
201Arboleda-tham syndromeEnrichmentKAT6A1.94
202Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeEnrichmentGATAD2B1.94
203Cdkn2a cancer predispositionEnrichmentCDKN2A1.94
204Ppp2r1a-related neurodevelopmental disorderEnrichmentPPP2R1A1.94
205Esophageal atresia/tracheoesophageal fistulaEnrichmentBRIP1, GLS, POLR2B1.93
206Renal cell carcinoma, nonpapillaryEnrichmentATM, MTOR1.91
207Charge syndromeEnrichmentEP3001.90
208Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B1.90
209Peutz-jeghers syndromeEnrichmentSTK111.87
210Rothmund-thomson syndrome, type 2EnrichmentDNA21.87
211Spinocerebellar ataxia 17EnrichmentTBP1.87
212Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT51.87
213Intellectual developmental disorder, autosomal dominant 73EnrichmentTAF41.87
214Fanconi anemia, complementation group sEnrichmentBRCA11.87
215Werner syndromeEnrichmentWRN1.87
216Poirier-bienvenu neurodevelopmental syndromeEnrichmentCSNK2B1.87
217Pancreatic cancer 4EnrichmentBRCA11.87
218Ovarian cancer 1EnrichmentBRIP11.87
219Diffuse midline glioma, h3 k27m-mutantEnrichmentBRIP11.87
22014q11.2 microduplication syndromeEnrichmentSUPT16H1.87
221Inflammatory breast carcinomaEnrichmentBRCA11.87
222Peritoneum cancerEnrichmentBRCA11.87
223Bilateral breast cancerEnrichmentBRCA11.87
224Complex neurodevelopmental disorderEnrichmentAGO1, AGO2, CNOT1, CNOT3, CSNK2A1, PPP2CA, TAF4, TNRC6B1.84
225Immune deficiency diseaseEnrichmentATM1.82
226Melanoma, cutaneous malignant 1EnrichmentCDKN2A, STK111.80
227Syndromic intellectual disabilityEnrichmentKAT6A, TAF61.80
228Diamond-blackfan anemia 1EnrichmentTP531.77
229Prognathism, mandibularEnrichmentCSNK2B1.69
230Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestationsEnrichmentATRIP1.69
231Nijmegen breakage syndromeEnrichmentNBN1.69
232Chilblain lupus 1EnrichmentATRIP1.69
233Galloway-mowat syndrome 4EnrichmentTP53RK1.69
234Chilblain lupusEnrichmentATRIP1.69
235Testicular germ cell cancerEnrichmentSTK111.69
236Childhood apraxia of speechEnrichmentRFC31.69
237Testicular cancerEnrichmentSTK111.69
238Apc-associated polyposis conditionsEnrichmentSTK111.69
239Polydactyly, postaxial, type a1EnrichmentEP3001.68
240Wilms tumor 1EnrichmentCHEK21.68
241Mitochondrial neurogastrointestinal encephalomyopathyEnrichmentRRM2B, SCO21.68
242Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.64
243Neutrophilia, hereditaryEnrichmentPIP4K2B1.64
244Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.64
245Sifrim-hitz-weiss syndromeEnrichmentCHD41.64
246Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentPIP4K2B1.64
247Snijders blok-campeau syndromeEnrichmentCHD31.64
248Cebalid syndromeEnrichmentMTOR1.64
249Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.64
250Severe congenital neutropenia 7EnrichmentPIP4K2B1.64
251B-lymphoblastic leukemia/lymphoma with hyperdiploidyEnrichmentPIP4K2A1.64
252Hao-fountain syndromeEnrichmentUSP71.64
253Smith-kingsmore syndromeEnrichmentMTOR1.64
2543p25.3 microdeletion syndromeEnrichmentBRPF11.64
255Houge-janssens syndrome 3EnrichmentPPP2CA1.64
256Malignant granular cell myoblastomaEnrichmentBRD71.64
257Granular cell carcinomaEnrichmentBRD71.64
258Linear skin defects with multiple congenital anomalies 2EnrichmentCOX7B1.59
259Vacterl association with hydrocephalusEnrichmentPTEN1.59
260Immunodeficiency due to defect in mapbp-interacting proteinEnrichmentLAMTOR21.59
261Myoglobinuria, recurrentEnrichmentMT-CO11.59
262Xeroderma pigmentosum, complementation group bEnrichmentERCC31.59
263Global developmental delay with speech and behavioral abnormalitiesEnrichmentTNRC6B1.59
264Holoprosencephaly 12 with or without pancreatic agenesisEnrichmentCNOT11.59
265Anemia, congenital, nonspherocytic hemolytic, 10EnrichmentGSR1.59
266Mitochondrial complex iv deficiency, nuclear type 18EnrichmentCOX6A21.59
267Brunet-wagner neurodevelopmental syndromeEnrichmentRBL21.59
268Casgid syndromeEnrichmentGLS1.59
269Lynch syndrome 2EnrichmentMLH11.59
270Xeroderma pigmentosum, complementation group dEnrichmentERCC21.59
271Familial cold autoinflammatory syndrome 4EnrichmentNLRC41.59
272Mitochondrial dna depletion syndrome 8bEnrichmentRRM2B1.59
273Papillary tumor of the pineal regionEnrichmentPTEN1.59
274Autoinflammation with infantile enterocolitisEnrichmentNLRC41.59
275Trichothiodystrophy 2, photosensitiveEnrichmentERCC31.59
276Autoimmune lymphoproliferative syndrome, type iiaEnrichmentCASP101.59
277Xeroderma pigmentosum group bEnrichmentERCC31.59
278Developmental and epileptic encephalopathy 71EnrichmentGLS1.59
279Neuroendocrine tumorEnrichmentCDKN1B1.59
280Cerebrooculofacioskeletal syndrome 2EnrichmentERCC21.59
281Intellectual developmental disorder, autosomal recessive 34, with variant lissencephalyEnrichmentCRADD1.59
282Olmsted syndrome 2EnrichmentPERP1.59
283Trichothiodystrophy 3, photosensitiveEnrichmentGTF2H51.59
284Ataxia-telangiectasia-like disorder 2EnrichmentPCNA1.59
285Anemia, congenital, nonspherocytic hemolytic, 4EnrichmentGPI1.59
286Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosisEnrichmentCOX4I21.59
287Glioma susceptibility 2EnrichmentPTEN1.59
288Developmental and epileptic encephalopathy 56EnrichmentYWHAG1.59
289Epilepsy, familial adult myoclonic, 6EnrichmentTNRC6A1.59
290Mismatch repair cancer syndrome 2EnrichmentMSH21.59
291Vissers-bodmer syndromeEnrichmentCNOT11.59
292Mitochondrial complex iv deficiency, nuclear type 7EnrichmentCOX6B11.59
293Mitochondrial complex iv deficiency, nuclear type 20EnrichmentCOX5A1.59
294Mismatch repair cancer syndrome 4EnrichmentPMS21.59
295Intellectual developmental disorder with hypertelorism and distinctive faciesEnrichmentCCNK1.59
296Menke-hennekam syndrome 1EnrichmentCREBBP1.59
297Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomaliesEnrichmentCNOT21.59
298Mitochondrial complex iv deficiency, nuclear type 16EnrichmentCOX4I11.59
299Mitochondrial complex iv deficiency, nuclear type 21EnrichmentCOXFA41.59
300Erythrokeratodermia variabilis et progressiva 7EnrichmentPERP1.59
301Mitochondrial complex iv deficiency, nuclear type 15EnrichmentCOX8A1.59
302Rectal benign neoplasmEnrichmentMSH21.59
303Charcot-marie-tooth disease, recessive intermediate dEnrichmentCOX6A11.59
304Intellectual developmental disorder, autosomal recessive 80, with variant lissencephalyEnrichmentCASP21.59
305Rubinstein-taybi syndrome due to 16p13.3 microdeletionEnrichmentCREBBP1.59
306Pituitary cancerEnrichmentPMS21.59
307Ascending colon cancerEnrichmentMSH21.59
308Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defectEnrichmentSCO21.59
309Pancreatic insufficiency-anemia-hyperostosis syndromeEnrichmentCOX4I21.59
310Spastic ataxia-dysarthria due to glutaminase deficiencyEnrichmentGLS1.59
311Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM11.59
312Ovarian cystEnrichmentMSH21.59
313Congenital nonspherocytic hemolytic anemiaEnrichmentG6PD1.59
314Autosomal dominant spastic ataxiaEnrichmentMT-CO31.59
315Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM11.59
316Xeroderma pigmentosum group dEnrichmentERCC21.59
317Menke-hennekam syndromeEnrichmentCREBBP1.59
318Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephalyEnrichmentPIDD11.59
319Pancreatic agenesis-holoprosencephaly syndromeEnrichmentCNOT11.59
320Primary immunodeficiency syndrome due to p14 deficiencyEnrichmentLAMTOR21.59
321Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN1.59
322Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE1.59
323Rrm2b mitochondrial dna maintenance defectsEnrichmentRRM2B1.59
324Tubular renal disease-cardiomyopathy syndromeEnrichmentRRAGD1.59
325Periodic fever-infantile enterocolitis-autoinflammatory syndromeEnrichmentNLRC41.59
326Diamond-blackfan anemiaEnrichmentTP531.58
327Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaEnrichmentMRE111.57
328Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA11.57
329CholangiocarcinomaEnrichmentBRCA11.57
330Aicardi-goutieres syndrome 1EnrichmentATRIP1.57
331EnophthalmosEnrichmentCSNK2B1.57
332SyndactylyEnrichmentCSNK2B1.57
333Thrombotic microangiopathyEnrichmentATRIP1.57
334Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentCHEK11.57
335Tetralogy of fallotEnrichmentMT-CO1, MT-CO2, MT-CO31.55
336Mitochondrial complex v deficiency, mitochondrial type 1EnrichmentMT-CO1, MT-CO2, MT-CO31.55
337Neuropathy, ataxia, and retinitis pigmentosaEnrichmentMT-CO1, MT-CO2, MT-CO31.55
338Striatonigral degeneration, infantile, mitochondrialEnrichmentMT-CO1, MT-CO2, MT-CO31.55
339Camptodactyly of fingersEnrichmentMT-CO1, MT-CO2, MT-CO31.55
340Leukemia, acute myeloidEnrichmentTP531.54
341Primary ovarian insufficiencyEnrichmentCHEK2, NBN, RICTOR1.52
342Type 2 diabetes mellitusEnrichmentAKT21.52
343Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1EnrichmentATRIP1.48
344Chondrosarcoma, extraskeletal myxoidEnrichmentTAF151.48
345Familial adenomatous polyposis 1EnrichmentSTK111.48
346Vascular dementiaEnrichmentATRIP1.48
347Generalized juvenile polyposis/juvenile polyposis coliEnrichmentSTK111.48
348Testicular germ cell tumorEnrichmentSTK111.40
349Acute promyelocytic leukemiaEnrichmentNPM1, PML1.37
350Fanconi renotubular syndrome 1EnrichmentRRM2B1.30
351Burkitt lymphomaEnrichmentPMS21.30
352Thumb deformityEnrichmentCREBBP1.30
353Rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunctionEnrichmentRRM2B1.30
354Xeroderma pigmentosum, complementation group eEnrichmentDDB21.30
355Fanconi anemia, complementation group iEnrichmentFANCI1.30
356Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5EnrichmentRRM2B1.30
357Waardenburg syndrome, type 4cEnrichmentPOLR2F1.30
358Premature ovarian failure 3EnrichmentAGO21.30
359Congenital cataracts, facial dysmorphism, and neuropathyEnrichmentCTDP11.30
360Microcephaly 6, primary, autosomal recessiveEnrichmentCPAP1.30
361Seckel syndrome 4EnrichmentCPAP1.30
362Mitochondrial dna depletion syndrome 8aEnrichmentRRM2B1.30
363Anemia, hypochromic microcytic, with iron overload 2EnrichmentSTEAP31.30
364Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2EnrichmentRRM2B1.30
365Multiple endocrine neoplasia, type ivEnrichmentCDKN1B1.30
366Congenital heart defects, dysmorphic facial features, and intellectual developmental disorderEnrichmentCDK131.30
367Global developmental delay, progressive ataxia, and elevated glutamineEnrichmentGLS1.30
368Charcot-marie-tooth disease, demyelinating, type 4dEnrichmentNDRG11.30
369Hypomagnesemia 7, renal, with or without dilated cardiomyopathyEnrichmentRRAGD1.30
370Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO11.30
371Intravascular large b-cell lymphomaEnrichmentBCL61.30
372Myopia 6EnrichmentSCO21.30
373Alopecia-intellectual disability syndrome 4EnrichmentCNOT11.30
374Lissencephaly 3EnrichmentCPAP1.30
375Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung diseaseEnrichmentPOLR2F1.30
376Congenital hemolytic anemiaEnrichmentG6PD1.30
377Glucosephosphate dehydrogenase deficiencyEnrichmentG6PD1.30
378Acute myeloid leukemia without maturationEnrichmentNPM11.30
379Charcot-marie-tooth disease type 4dEnrichmentNDRG11.30
380Lymphomatoid papulosisEnrichmentNPM11.30
381Long-olsen-distelmaier syndromeEnrichmentRRAGC1.30
382Vacterl with hydrocephalusEnrichmentPTEN1.30
383Primary mediastinal large b-cell lymphomaEnrichmentBCL61.30
384Juvenile polyposis of infancyEnrichmentPTEN1.30
385Xeroderma pigmentosum group eEnrichmentDDB21.30
386Paternal uniparental disomy of chromosome 6EnrichmentPLAGL11.30
387Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM11.30
388Isolated growth hormone deficiency, type iaEnrichmentDNA21.28
389Corpus callosum, agenesis ofEnrichmentCREBBP, ERCC21.26
390Isolated corpus callosum agenesisEnrichmentCREBBP, ERCC21.26
391Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentCREBBP, ERCC21.26
392Dilated cardiomyopathyEnrichmentPPP1R13L1.24
393Cornelia de lange syndrome 1EnrichmentTAF61.23
394Tracheoesophageal fistula with or without esophageal atresiaEnrichmentBRIP11.23
395Cornelia de lange syndromeEnrichmentTAF61.23
396Aplastic anemiaEnrichmentNBN1.18
397Aicardi-goutieres syndromeEnrichmentATRIP1.18
398Galloway-mowat syndromeEnrichmentTP53RK1.18
399Isolated tracheo-esophageal fistulaEnrichmentBRIP11.18
400Lung squamous cell carcinomaEnrichmentCDKN2A1.18
401Leber hereditary optic neuropathy, modifier ofEnrichmentMT-CO1, MT-CO2, MT-CO31.17
402Mitochondrial diseaseEnrichmentMT-CO1, MT-CO2, MT-CO3, RRM2B, TOP3A1.14
403Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesEnrichmentMT-CO1, MT-CO2, MT-CO31.14
404Keratoderma, palmoplantar, with deafnessEnrichmentMT-CO11.13
405Waardenburg syndrome, type 2aEnrichmentPOLR2F1.13
406Trichothiodystrophy 1, photosensitiveEnrichmentERCC21.13
407Polycystic kidney disease, infantile severe, with tuberous sclerosisEnrichmentTSC21.13
408Linear skin defects with multiple congenital anomalies 1EnrichmentCOX7B1.13
409Mitochondrial complex iv deficiency, nuclear type 2EnrichmentSCO21.13
410Tuberous sclerosis 2EnrichmentTSC21.13
411Seckel syndrome 5EnrichmentCPAP1.13
412Miller-dieker lissencephaly syndromeEnrichmentYWHAE1.13
413Breast-ovarian cancer, familial 4EnrichmentRAD51D1.13
414Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE1.13
415Tethered spinal cord syndromeEnrichmentCREBBP1.13
416Wieacker-wolff syndromeEnrichmentCCNH1.13
417High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL61.13
418Mutilating palmoplantar keratoderma with periorificial keratotic plaquesEnrichmentPERP1.13
419Xanthinuria, type iiEnrichmentTSC21.13
420Cellular ependymomaEnrichmentMSH21.13
421Tanycytic ependymomaEnrichmentMSH21.13
422Papillary ependymomaEnrichmentMSH21.13
423Intraocular pressure quantitative trait locusEnrichmentCREBBP1.13
424Hereditary site-specific ovarian cancer syndromeEnrichmentRAD51D1.13
425Laryngeal squamous cell carcinomaEnrichmentPTEN1.13
426Lessel-kreienkamp syndromeEnrichmentAGO21.13
427Idiopathic camptocormiaEnrichmentRRM2B1.13
428Clear cell ependymomaEnrichmentMSH21.13
429Myelodysplastic syndrome with ring sideroblastsEnrichmentMT-CO11.13
430Overgrowth syndromeEnrichmentMTOR1.11
431Autosomal recessive non-syndromic intellectual disabilityEnrichmentTTC51.11
432SchizophreniaEnrichmentEHMT11.10
433Neural tube defectsEnrichmentRAD9B1.07
434Premature menopauseEnrichmentNBN1.07
435MedulloblastomaEnrichmentWRN1.04
436Periventricular nodular heterotopiaEnrichmentBRCA11.04
437CataractEnrichmentWRN1.04
438Erythrocytosis, familial, 2EnrichmentFANCD21.01
439Autoimmune lymphoproliferative syndromeEnrichmentCASP101.01
440ChoroideremiaEnrichmentCHM1.01
441Congenital generalized lipodystrophyEnrichmentFOS1.01
442Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalitiesEnrichmentPOLR2A1.01
443Intellectual developmental disorder with speech delay, autism, and dysmorphic faciesEnrichmentCNOT31.01
444CraniopharyngiomaEnrichmentERCC21.01
445Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentYWHAZ1.01
446Primary hyperparathyroidismEnrichmentCDKN1B1.01
447GliomaEnrichmentPTEN1.01
448Benign ependymomaEnrichmentMSH21.01
449LissencephalyEnrichmentCPAP, NBN1.00
450Wolff-parkinson-white syndromeEnrichmentPRKAG20.99
451Precursor t-cell acute lymphoblastic leukemiaEnrichmentCDKN2A, CNOT30.93
452Parkinson's diseaseEnrichmentTBP0.92
453Capillary malformations, congenitalEnrichmentCCNH0.92
454Arthrogryposis, renal dysfunction, and cholestasis 1EnrichmentCPAP0.92
455Von hippel-lindau syndromeEnrichmentFANCD20.92
456Microcephaly 1, primary, autosomal recessiveEnrichmentCPAP0.92
457Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentG6PD0.92
458Kearns-sayre syndromeEnrichmentRRM2B0.92
459Hypogonadotropic hypogonadism 1 with or without anosmiaEnrichmentPOLR2F0.92
460Macrocephaly/autism syndromeEnrichmentPTEN0.92
461Cox deficiency, infantile mitochondrial myopathyEnrichmentSCO20.92
462Follicular lymphomaEnrichmentBCL60.92
463Acute myeloid leukemia with maturationEnrichmentNPM10.92
464Transient neonatal diabetes mellitusEnrichmentPLAGL10.92
465Night blindnessEnrichmentCHM0.92
466HemangiomaEnrichmentPTEN0.92
467Histiocytoid hemangiomaEnrichmentFOS0.92
468Rare isolated myopiaEnrichmentSCO20.92
469Endometrial stromal sarcomaEnrichmentYWHAE0.92
470Williams-beuren syndromeEnrichmentRFC20.90
471Klippel-trenaunay-weber syndromeEnrichmentCCNH0.84
472Cowden syndrome 1EnrichmentPTEN0.84
473Cerebrooculofacioskeletal syndrome 1EnrichmentERCC20.84
474Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1EnrichmentRRM2B0.84
475Wolf-hirschhorn syndromeEnrichmentNELFA0.84
476Telangiectasia, hereditary hemorrhagic, type 1EnrichmentCCNH0.84
477Waardenburg syndrome, type 4aEnrichmentPOLR2F0.84
478Hemangioma, capillary infantileEnrichmentCCNH0.84
479Deafness, nonsyndromic sensorineural, mitochondrialEnrichmentMT-CO10.84
480Mitochondrial dna depletion syndrome 1EnrichmentSCO20.84
481Basal cell carcinoma 1EnrichmentCCNH0.84
482KeratoconusEnrichmentTSC10.84
483Hereditary spherocytosisEnrichmentGPI0.84
484HypertrichosisEnrichmentCREBBP0.84
485Waardenburg syndromeEnrichmentPOLR2F0.84
486Kidney clear cell sarcomaEnrichmentYWHAE0.84
487HypertelorismEnrichmentMT-CO1, MT-CO2, MT-CO30.83
488Parkinson disease, late-onsetEnrichmentTBP0.82
489MicrocephalyEnrichmentEP3000.80
490Polycystic kidney disease 1 with or without polycystic liver diseaseEnrichmentTSC20.78
491Thyroid cancer, nonmedullary, 2EnrichmentPTEN0.78
492Waardenburg syndrome, type 1EnrichmentPOLR2F0.78
493Mitochondrial dna depletion syndrome 4aEnrichmentFANCI0.78
494Waardenburg syndrome, type 2eEnrichmentPOLR2F0.78
495Capillary malformation-arteriovenous malformation 1EnrichmentCCNH0.78
496Polycystic kidney disease 1EnrichmentTSC20.78
497Hereditary hemorrhagic telangiectasiaEnrichmentCCNH0.78
498Follicular thyroid carcinomaEnrichmentPTEN0.78
499Hemolytic anemiaEnrichmentGPI0.78
500Fanconi anemia, complementation group cEnrichmentFANCC0.73
501Methylmalonic aciduria and homocystinuria, cblc typeEnrichmentPRDX10.73
502Mitochondrial dna depletion syndrome 4bEnrichmentSCO20.73
503Primary autosomal recessive microcephalyEnrichmentTAF130.71
504Familial hypertrophic cardiomyopathyEnrichmentPRKAG20.70
505CraniosynostosisEnrichmentKAT6A0.69
506Inflammatory bowel disease 1EnrichmentERCC20.68
507Coronary heart disease 5EnrichmentG6PD0.68
508Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentTNRC6B0.68
509Arteriovenous malformationEnrichmentCCNH0.68
510Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentCRADD0.68
511Hypotrichosis simplexEnrichmentERCC20.68
512Myopathy, x-linked, with excessive autophagyEnrichmentCCNH0.64
513Rare mitochondrial non-syndromic sensorineural deafnessEnrichmentMT-CO10.64
514Systemic lupus erythematosusEnrichmentATRIP0.63
515Meningioma, familialEnrichmentPTEN0.61
516Cardiomyopathy, familial hypertrophic, 9EnrichmentPMS20.61
517Specific learning disabilityEnrichmentYWHAG0.61
518Hypertrophic cardiomyopathyEnrichmentPRKAG20.60
519Leigh syndrome, nuclearEnrichmentMT-CO1, MT-CO2, MT-CO30.59
520Charcot-marie-tooth diseaseEnrichmentCTDP1, NDRG10.55
521Autosomal dominant non-syndromic intellectual disabilityEnrichmentCSNK2B0.54
522Heart diseaseEnrichmentCREBBP0.52
523Leigh diseaseEnrichmentMT-CO1, MT-CO2, MT-CO30.51
524Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentTAF4B0.50
525Autosomal dominant polycystic kidney diseaseEnrichmentTSC20.49
526Kidney diseaseEnrichmentTSC10.49
527Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentTAF150.49
528Isolated congenital microcephalyEnrichmentCPAP0.47
529Heart, malformation ofEnrichmentCDK130.43
530Charcot-marie-tooth disease type 4EnrichmentNDRG10.43
531Dyskeratosis congenitaEnrichmentNPM10.41
532LeukodystrophyEnrichmentERCC20.39
533Cardiomyopathy, dilated, 1gEnrichmentPMS20.36
534Leber plus diseaseEnrichmentMT-CO1, MT-CO2, MT-CO30.36
535MalariaEnrichmentG6PD0.35
536Kallmann syndromeEnrichmentPOLR2F0.35
537Autoinflammatory diseaseEnrichmentNLRC40.33
538ScoliosisEnrichmentCREBBP0.33
539Congenital nervous system abnormalityEnrichmentCREBBP, PTEN, TSC20.29
540Nervous system diseaseEnrichmentCREBBP, PTEN, TSC20.29
541Hirschsprung disease 1EnrichmentPOLR2F0.28
542Severe covid-19EnrichmentCASP100.28
543Peripheral nervous system diseaseEnrichmentCOX6A10.25
544NeuropathyEnrichmentCOX6A10.25
545Eye diseaseEnrichmentCHM0.22
546Retinitis pigmentosaEnrichmentCHM, MT-CO1, MT-CO2, MT-CO3, RRM2B0.20
547EpilepsyEnrichmentMT-CO30.19
548West syndromeEnrichmentTSC20.17
549Sensorineural hearing lossEnrichmentRRM2B0.15
550Undetermined early-onset epileptic encephalopathyEnrichmentYWHAG0.12
551AutismEnrichmentCREBBP0.07
552Hereditary retinal dystrophyEnrichmentATRIP0.06
553Fundus dystrophyEnrichmentATRIP0.06
554Rare genetic deafnessEnrichmentPOLR2F0.06

Loading...
Loading...
Loading...