Apoptosis and survival TNFR1 signaling pathway

Pathway network for the Apoptosis and survival TNFR1 signaling pathway SuperPath

Sources:
  • GeneGo (Thomson Reuters)
  • WikiPathways
  • QIAGEN
  • PubChem

Pathways in the Apoptosis and survival TNFR1 signaling pathway SuperPath

#NameSourceGenes
1Apoptosis and survival TNFR1 signaling pathwayGeneGo (Thomson Reuters)
2ApoptosisWikiPathways
3Apoptosis through Death ReceptorsQIAGEN
4TNF SignalingQIAGEN
5Apoptotic Pathways Triggered By HIV1QIAGEN
6Ceramide signaling pathwayPubChem
7TNFR1 PathwayQIAGEN
8TRAIL PathwayQIAGEN
9HIV-1 Nef: Negative effector of Fas and TNF-alphaPubChem
10TWEAK PathwayQIAGEN
11DR3 SignalingQIAGEN
12GITR PathwayQIAGEN
13Apoptosis modulation by HSP70WikiPathways

Gene overlap in member pathways for Apoptosis and survival TNFR1 signaling pathway SuperPath

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

Disorders associated with Apoptosis and survival TNFR1 signaling pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Autoimmune lymphoproliferative syndromeEnrichmentACTA2, CASP10, FAS, FASLG9.20
2Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA5.49
3Li-fraumeni syndromeEnrichmentCDKN2A, MDM2, TP535.30
4Paget disease of bone 5, juvenile-onsetEnrichmentTNFRSF11A, TNFRSF11B5.21
5Lung cancerEnrichmentCASP8, FAS, FASLG4.95
6Lymphoma, non-hodgkin, familialEnrichmentCASP10, PRF1, TP534.86
7Noonan syndrome and noonan-related syndromeEnrichmentMAP2K1, MAP2K2, RAF14.82
8Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG14.59
9High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, MYC4.49
10Nasopharyngeal carcinomaEnrichmentNFKBIA, TP534.42
11Psoriatic arthritisEnrichmentLTA, TNF4.25
12Noonan syndrome 1EnrichmentMAP2K1, MAP2K2, RAF14.24
13Cardiofaciocutaneous syndrome 1EnrichmentMAP2K1, MAP2K24.19
14Cardiofaciocutaneous syndromeEnrichmentMAP2K1, MAP2K24.19
15RasopathyEnrichmentMAP2K1, MAP2K2, RAF14.08
16Gastric cancerEnrichmentCASP10, CDKN2A, IRF1, TP533.79
17Colorectal cancerEnrichmentAKT1, BAX, IGF2, PIK3R1, TP533.63
18Small cell cancer of the lungEnrichmentTP53, TP733.62
19Cleft lip and alveolusEnrichmentIRF6, TP633.62
20Common variable immunodeficiencyEnrichmentNFKB1, NFKB23.59
21Behcet syndromeEnrichmentFAS, TNFRSF1A3.50
22Adult hepatocellular carcinomaEnrichmentCASP8, EGF3.42
23Insulin-like growth factor iEnrichmentIGF1, IGF1R3.40
24Cleft upper lipEnrichmentIRF6, TP633.40
25Autoinflammatory diseaseEnrichmentPRF1, TNFRSF1A, XIAP3.33
26Squamous cell carcinoma, head and neckEnrichmentTNFRSF10B, TP533.28
27Adrenocortical carcinomaEnrichmentCDKN2A, TP533.22
28Breast adenocarcinomaEnrichmentAKT1, TP533.22
29B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A, TP533.08
30Breast cancerEnrichmentAKT1, CASP8, JUN, TP532.87
31Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A2.85
32Caspase 8 deficiencyEnrichmentCASP82.85
3346,xy sex reversal 6EnrichmentMAP3K12.85
34Thrombocytopenia 4EnrichmentCYCS2.85
35Multiple sclerosis 5EnrichmentTNFRSF1A2.85
36Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD2.85
37Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A2.85
38Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK12.85
39Intellectual developmental disorder, autosomal recessive 80, with variant lissencephalyEnrichmentCASP22.85
40GliosarcomaEnrichmentNFKBIA, TP532.83
41Giant cell glioblastomaEnrichmentNFKBIA, TP532.77
42Incontinentia pigmentiEnrichmentIKBKG2.73
43Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.73
44Fetal encasement syndromeEnrichmentCHUK2.73
45Immunodeficiency 15bEnrichmentIKBKB2.73
46Immunodeficiency 15aEnrichmentIKBKB2.73
47Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.73
48Immunodeficiency 132aEnrichmentTRAF32.73
49Immunodeficiency 132bEnrichmentTRAF32.73
50Autoimmune lymphoproliferative syndrome, type iiaEnrichmentCASP102.73
51Bartsocas-papas syndrome 2EnrichmentCHUK2.73
52Immunodeficiency 112EnrichmentMAP3K142.73
53Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.73
54Nik deficiencyEnrichmentMAP3K142.73
55Common variable immunodeficiency phenotype due to tweak deficiencyEnrichmentTNFSF122.70
56MalariaEnrichmentIKBKG, TNF2.69
57Lung cancer susceptibility 3EnrichmentACTA2, TP532.65
58Immunodeficiency 25EnrichmentCD2472.61
59Intellectual developmental disorder, autosomal recessive 34, with variant lissencephalyEnrichmentCRADD2.61
60Lymphoproliferative syndrome, x-linked, 2EnrichmentXIAP2.60
61Osteopetrosis, autosomal recessive 7EnrichmentTNFRSF11A2.60
62Perrault syndrome 7EnrichmentDAP32.60
63Lip and oral cavity carcinomaEnrichmentCDKN2A, TP532.59
64Spondyloepimetaphyseal dysplasia, x-linked, with hypomyelinating leukodystrophyEnrichmentAIFM12.55
65Charcot-marie-tooth disease, x-linked recessive, 4, with or without cerebellar ataxiaEnrichmentAIFM12.55
66Combined oxidative phosphorylation deficiency 6EnrichmentAIFM12.55
67Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.55
68Immunodeficiency 57 with autoinflammationEnrichmentRIPK12.55
69Charcot-marie-tooth disease x-linked recessive 4EnrichmentAIFM12.55
70Intermittent hydrarthrosisEnrichmentTNFRSF1A2.55
71Common variable immunodeficiency 12EnrichmentNFKB12.55
72Oculootodental syndromeEnrichmentFADD2.55
73Cardiospondylocarpofacial syndromeEnrichmentMAP3K72.53
74Frontometaphyseal dysplasia 2EnrichmentMAP3K72.53
75Knobloch syndrome 2EnrichmentPAK22.53
76Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.53
77Deeah syndromeEnrichmentMADD2.53
78Takenouchi-kosaki syndromeEnrichmentCDC422.53
79Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotoniaEnrichmentMADD2.53
80Familial behcet-like autoinflammatory syndromeEnrichmentTNFAIP32.53
81Nocarh syndromeEnrichmentCDC422.53
82Proteus syndromeEnrichmentAKT12.48
83Noonan syndrome 5EnrichmentRAF12.48
84Hypomagnesemia 4, renalEnrichmentEGF2.48
85Melorheostosis, isolatedEnrichmentMAP2K12.48
86Keloid formationEnrichmentASAH12.48
87Cardiomyopathy, dilated, 1nnEnrichmentRAF12.48
88Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.48
89Ceroid lipofuscinosis, neuronal, 10EnrichmentCTSD2.48
90Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.48
91Noonan syndrome 13EnrichmentMAPK12.48
92Leukoencephalopathy, developmental delay, and episodic neurologic regression syndromeEnrichmentEIF2AK22.48
93MelorheostosisEnrichmentMAP2K12.48
94Leopard syndrome 2EnrichmentRAF12.48
95Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.48
96Cowden syndrome 6EnrichmentAKT12.48
97Acid sphingomyelinase deficiencyEnrichmentSMPD12.48
98Dystonia 33EnrichmentEIF2AK22.48
99TrigonitisEnrichmentRAF12.48
100Asah1-related disordersEnrichmentASAH12.48
101Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF2.48
102Cleft lip/palateEnrichmentIRF6, TP632.45
103Parkinson disease 13, autosomal dominantEnrichmentHTRA22.45
104Immunodeficiency 92EnrichmentREL2.45
105Deficiency in anterior pituitary function - variable immunodeficiency syndromeEnrichmentNFKB22.45
106Immunodeficiency 53EnrichmentRELB2.45
107Whim syndrome 1EnrichmentCXCR42.44
108Bone marrow failure syndrome 5EnrichmentTP532.44
109Okt4 epitope deficiencyEnrichmentCD42.44
110Papilloma of choroid plexusEnrichmentTP532.44
111Basal cell carcinoma 7EnrichmentTP532.44
112Anaplastic thyroid carcinomaEnrichmentTP532.44
113Type 1 diabetes mellitus 22EnrichmentCCR52.44
114Immunodeficiency 105, severe combinedEnrichmentPTPRC2.44
115Ductal carcinoma in situEnrichmentTP532.44
116Immunodeficiency 79EnrichmentCD42.44
117Cd45 deficiencyEnrichmentPTPRC2.44
118Thyroid gland undifferentiated carcinomaEnrichmentTP532.44
119Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.44
120Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.44
121Choroid plexus cancerEnrichmentTP532.44
122Pleomorphic xanthoastrocytomaEnrichmentTP532.44
123Immunodeficiency 33EnrichmentIKBKG2.43
124Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA2.43
125Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG2.43
126Neuromuscular diseaseEnrichmentACTA1, SPTAN12.43
127Ovarian cancerEnrichmentAKT1, CDKN2A, MAP3K1, TP532.40
128Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG2.38
129Deafness, x-linked 5, with peripheral neuropathyEnrichmentAIFM12.38
130X-linked deafness 5EnrichmentAIFM12.38
131Combined oxidative phosphorylation deficiencyEnrichmentAIFM12.38
132Vogt-koyanagi-harada diseaseEnrichmentFAS2.38
133Leprosy 4EnrichmentLTA2.36
134Achromatopsia 7EnrichmentATF62.36
135Cerebral cavernous malformations 5EnrichmentMAP3K32.36
136Verrucous hemangiomaEnrichmentMAP3K32.36
137Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA2.31
138Intravascular large b-cell lymphomaEnrichmentBCL22.31
139Immunodeficiency 127EnrichmentTNF2.31
140Rela fusion-positive ependymomaEnrichmentRELA2.31
141Familial expansile osteolysisEnrichmentTNFRSF11A2.30
142Ovarian germ cell cancerEnrichmentCBL2.30
143Grange syndromeEnrichmentDAP32.30
144Osteopetrosis, autosomal recessive 2EnrichmentTNFSF112.30
145Deafness, autosomal dominant 64EnrichmentDIABLO2.30
146Malignant germ cell tumor of ovaryEnrichmentCBL2.30
147Baraitser-winter syndrome 1EnrichmentACTB2.29
148Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA12.29
149Developmental and epileptic encephalopathy 5EnrichmentSPTAN12.29
150Myopathy, scapulohumeroperonealEnrichmentACTA12.29
151Megacystis-microcolon-intestinal hypoperistalsis syndrome 5EnrichmentACTG22.29
152Deafness, autosomal recessive 125EnrichmentGAS22.29
153Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.29
154Developmental delay, impaired speech, and behavioral abnormalitiesEnrichmentSPTBN12.29
155Becker nevus syndromeEnrichmentACTB2.29
156Dystonia-deafness syndrome 1EnrichmentACTB2.29
157Visceral neuropathy, familial, 3, autosomal dominantEnrichmentACTG22.29
158Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA12.29
159Autosomal dominant familial visceral neuropathyEnrichmentACTG22.29
160Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA12.29
161Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.29
162Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN12.29
163Developmental delay with or without epilepsyEnrichmentSPTAN12.29
164Baraitser-winter syndromeEnrichmentACTB2.29
165Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN12.29
166Zebra body myopathyEnrichmentACTA12.29
167Congenital smooth muscle hamartomaEnrichmentACTB2.29
168Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.29
169Actin-accumulation myopathyEnrichmentACTA12.29
170Myopathic intestinal pseudoobstructionEnrichmentACTG22.29
171Actg2 visceral myopathyEnrichmentACTG22.29
172Hepatocellular carcinomaEnrichmentCASP8, TP532.26
173Systemic lupus erythematosusEnrichmentTNF, TNFAIP32.23
174Autoinflammatory syndrome, familial, behcet-like 1EnrichmentTNFAIP32.23
175Immune system diseaseEnrichmentCDC422.23
176Severe combined immunodeficiencyEnrichmentIKBKB, PTPRC2.20
177Rapp-hodgkin syndromeEnrichmentTP632.19
178Ankyloblepharon-ectodermal defects-cleft lip/palateEnrichmentTP632.19
179Hemophagocytic lymphohistiocytosis, familial, 2EnrichmentPRF12.19
180Split-hand/foot malformation 4EnrichmentTP632.19
181Ankyloblepharon filiforme adnatum and cleft palateEnrichmentTP632.19
182Skin/hair/eye pigmentation, variation in, 8EnrichmentIRF42.19
183Orofacial cleft 6EnrichmentIRF62.19
184Popliteal pterygium syndromeEnrichmentIRF62.19
185Adult syndromeEnrichmentTP632.19
186Immunodeficiency 39 viral infectionsEnrichmentIRF72.19
187Immunodeficiency-centromeric instability-facial anomalies syndrome 4EnrichmentHELLS2.19
188Encephalopathy, acute, infection-induced 7EnrichmentIRF32.19
189Accelerated tumor formationEnrichmentMDM22.19
190Ciliary dyskinesia, primary, 47, and lissencephalyEnrichmentTP732.19
191Immunodeficiency 131EnrichmentIRF42.19
192Lessel-kubisch syndromeEnrichmentMDM22.19
193Short syndromeEnrichmentPIK3R12.19
194Immunodeficiency 39EnrichmentIRF72.19
195Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3EnrichmentTP632.19
196Limb-mammary syndromeEnrichmentTP632.19
197Systemic lupus erythematosus 10EnrichmentIRF52.19
198Premature ovarian failure 21EnrichmentTP632.19
199Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.19
200Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.19
201Inflammatory bowel disease 14EnrichmentIRF52.19
202Orofacial cleft 8EnrichmentTP632.19
203Irf6-related disordersEnrichmentIRF62.19
204Autosomal dominant popliteal pterygium syndromeEnrichmentIRF62.19
205Cdkn2a cancer predispositionEnrichmentCDKN2A2.19
206Tp63-related disordersEnrichmentTP632.19
207Whipple diseaseEnrichmentIRF42.19
208Fatal post-viral neurodegenerative disorderEnrichmentPRF12.19
209Burkitt lymphomaEnrichmentMYC2.18
210Spinal muscular atrophy with progressive myoclonic epilepsyEnrichmentASAH12.18
211Farber lipogranulomatosisEnrichmentASAH12.18
212Dystonia 16EnrichmentPRKRA2.18
213Tafro syndromeEnrichmentMAP2K22.18
214Autosomal thrombocytopenia with normal plateletsEnrichmentCYCS2.16
215Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle padsEnrichmentERAP12.15
216Immunodeficiency, common variable, 10EnrichmentNFKB22.15
217Adrenocortical carcinoma, hereditaryEnrichmentTP532.14
218Cervical cancerEnrichmentTP532.14
219West nile virusEnrichmentCCR52.14
220Lymphoma, hodgkin, classicEnrichmentTP532.14
221Dystonia 30EnrichmentPTPRA2.14
222Congenital fibrosarcomaEnrichmentTP532.14
223Li-fraumeni syndrome 1EnrichmentTP532.14
224SarcomaEnrichmentTP532.14
225Immunodeficiency 104, severe combinedEnrichmentPTPRC2.14
226Cervix carcinomaEnrichmentTP532.14
227Hodgkin's lymphomaEnrichmentTP532.14
228Pleomorphic rhabdomyosarcomaEnrichmentTP532.14
229Migraine without auraEnrichmentTNF2.14
230T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zetaEnrichmentCD2472.14
231DysosteosclerosisEnrichmentTNFRSF11A2.12
232Laryngeal squamous cell carcinomaEnrichmentTNFRSF10B2.12
233Adult-onset myasthenia gravisEnrichmentTNFRSF11A2.12
234Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK12.08
235Il10-related early-onset inflammatory bowel diseaseEnrichmentRIPK12.08
236Multisystem inflammatory syndrome in childrenEnrichmentIRF3, TRAF32.06
237Scoliosis, isolated 1EnrichmentMAPK72.06
238Frontometaphyseal dysplasiaEnrichmentMAP3K72.05
239Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG2.04
240Herpes simplex virus encephalitisEnrichmentTRAF32.04
241Precursor t-cell acute lymphoblastic leukemiaEnrichmentCDKN2A, MYC2.03
242Cerebral malariaEnrichmentTNF2.01
243Lymphoma, mucosa-associated lymphoid typeEnrichmentBIRC32.00
244Niemann-pick disease, type aEnrichmentSMPD12.00
245Langerhans cell histiocytosisEnrichmentMAP2K12.00
246Niemann-pick disease, type bEnrichmentSMPD12.00
247Anus, imperforateEnrichmentMAP4K42.00
248Ceroid lipofuscinosis, neuronal, 6aEnrichmentSMPD12.00
249Torsion dystonia 1EnrichmentEIF2AK22.00
250T-cell acute lymphoblastic leukemiaEnrichmentBAX2.00
251Paget disease of bone 2, early-onsetEnrichmentTNFRSF11A2.00
252Lymphoproliferative syndrome 2EnrichmentXIAP2.00
253Chondrocalcinosis 2EnrichmentTNFRSF11B2.00
254Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL2.00
255Autosomal recessive osteopetrosisEnrichmentTNFSF112.00
256Paget's disease of bone 2EnrichmentTNFRSF11A2.00
257Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN11.99
258Aortic aneurysm, familial thoracic 2EnrichmentACTA21.99
259Deafness, autosomal dominant 20EnrichmentACTG11.99
260Smooth muscle dysfunction syndromeEnrichmentACTA21.99
261Aortic aneurysm, familial thoracic 6EnrichmentACTA21.99
262Baraitser-winter syndrome 2EnrichmentACTG11.99
263Moyamoya disease 5EnrichmentACTA21.99
264Intestinal obstructionEnrichmentACTG21.99
265Mycosis fungoidesEnrichmentTNFRSF1B1.97
266Osteogenic sarcomaEnrichmentTP531.97
267Hepatitis c virusEnrichmentCCR51.97
268Atypical teratoid rhabdoid tumorEnrichmentTP531.97
269Anaplastic astrocytomaEnrichmentTP531.97
270Squamous cell carcinomaEnrichmentTP531.97
271AdenocarcinomaEnrichmentTP531.97
272Bone osteosarcomaEnrichmentTP531.97
273Saczary syndromeEnrichmentTNFRSF1B1.97
274Pancreatic cancerEnrichmentCDKN2A, TP531.96
275Lennox-gastaut syndromeEnrichmentMAPK101.95
276Congenital generalized lipodystrophyEnrichmentFOS1.93
277Knobloch syndromeEnrichmentPAK21.93
278Follicular lymphomaEnrichmentBCL21.92
279Vascular dementiaEnrichmentTNF1.92
280Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentTRAF61.90
281Myeloproliferative neoplasmEnrichmentCBL1.90
282Aggressive systemic mastocytosisEnrichmentCBL1.90
283Charge syndromeEnrichmentTNFRSF1A1.90
284Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.89
285Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1EnrichmentTP631.89
286Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.89
287Silver-russell syndrome 3EnrichmentIGF21.89
288Bladder exstrophyEnrichmentTP631.89
289Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.89
290Fissured tongueEnrichmentTP631.89
291Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF11.89
292Immunodeficiency 117EnrichmentIRF11.89
293Van der woude syndromeEnrichmentIRF61.89
294Silver-russell syndrome due to an imprinting defect of 11p15EnrichmentIGF21.89
295Silver-russell syndrome due to 11p15 microduplicationEnrichmentIGF21.89
296Melanoma of soft tissueEnrichmentATF11.89
297Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.88
298Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.88
299Noonan syndrome with multiple lentiginesEnrichmentRAF11.88
300Ciliary dyskinesia, primary, 3EnrichmentNFKB11.86
301Immunodeficiency, common variable, 1EnrichmentNFKB21.85
3023-methylglutaconic aciduria, type viiiEnrichmentHTRA21.85
303Thyroid cancer, nonmedullary, 1EnrichmentTP531.84
304CholangiocarcinomaEnrichmentPTPN31.84
305Lung sarcomatoid carcinomaEnrichmentTP531.84
306Embryonal rhabdomyosarcomaEnrichmentTP531.84
307Knobloch syndrome 1EnrichmentPAK21.83
308Histiocytoid hemangiomaEnrichmentFOS1.83
309Multiple acyl-coa dehydrogenase deficiency, severe neonatal typeEnrichmentMADD1.83
310Bladder cancerEnrichmentCDKN2A, TP531.83
311Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophyEnrichmentSPTBN11.82
312Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN11.82
313Immune deficiency diseaseEnrichmentRIPK11.82
31446,xy complete gonadal dysgenesisEnrichmentMAP3K11.82
315Coronary heart disease 5EnrichmentIKBKG1.78
316Niemann-pick disease, type c1EnrichmentSMPD11.78
317Niemann-pick diseaseEnrichmentSMPD11.78
318Hereditary breast ovarian cancer syndromeEnrichmentRIPK1, TP531.77
319Oligoarticular juvenile idiopathic arthritisEnrichmentCD2471.77
320Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentCD2471.77
321Primary biliary cholangitisEnrichmentTNFSF151.75
322Rhabdomyosarcoma 2EnrichmentTP531.75
323LymphomaEnrichmentTP531.75
324Acute megakaryocytic leukemiaEnrichmentTP531.75
325Van der woude syndrome 1EnrichmentIRF61.72
326Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R11.72
327Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.72
328Dedifferentiated liposarcomaEnrichmentMDM21.72
329Immunodeficiency 14EnrichmentPIK3R11.72
330Respiratory failureEnrichmentTP731.72
331Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.72
332Well-differentiated liposarcomaEnrichmentMDM21.72
333Beckwith-wiedemann syndrome due to imprinting defect of 11p15EnrichmentIGF21.72
334Multiple sclerosisEnrichmentTNFRSF1A1.71
33546,xy partial gonadal dysgenesisEnrichmentMAP3K11.71
336Nemaline myopathy 2EnrichmentACTA11.69
337Megacystis-microcolon-intestinal hypoperistalsis syndrome 1EnrichmentACTG21.69
338Aminoacylase 1 deficiencyEnrichmentACTB1.69
339Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN11.69
340Intermediate nemaline myopathyEnrichmentACTA11.69
341Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.69
342Multiple endocrine neoplasia, type iEnrichmentMAP4K21.69
343Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentCRADD1.66
344Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K11.64
345Noonan syndrome 3EnrichmentRAF11.64
346Pilomyxoid astrocytomaEnrichmentRAF11.64
347Esophageal cancerEnrichmentTP531.60
348Essential thrombocythemiaEnrichmentTP531.60
349Gallbladder cancerEnrichmentTP531.60
350Visceral myopathy 1EnrichmentACTG21.60
351Congenital myopathy 3 with rigid spineEnrichmentACTA11.60
352Pervasive developmental disorderEnrichmentSPTBN11.60
353Coloboma of choroid and retinaEnrichmentACTG11.60
354Severe congenital nemaline myopathyEnrichmentACTA11.60
355Rare pervasive developmental disorderEnrichmentSPTBN11.60
356Silver-russell syndrome due to a point mutationEnrichmentIGF21.59
357Melanocytic nevus syndrome, congenitalEnrichmentRAF11.58
358Renal hypodysplasia/aplasia 1EnrichmentMAP4K41.58
359AsthmaEnrichmentTNF1.58
360LeukodystrophyEnrichmentAIFM11.56
361Glioma susceptibility 1EnrichmentTP531.54
362Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG1, DIABLO1.54
363Arteriovenous malformationEnrichmentMAP2K11.53
364Cowden syndromeEnrichmentAKT11.53
365Juvenile myelomonocytic leukemiaEnrichmentCBL1.53
366Moyamoya disease 1EnrichmentACTA21.52
367Intestinal pseudo-obstructionEnrichmentACTG21.52
368Typical nemaline myopathyEnrichmentACTA11.52
369Alzheimer's diseaseEnrichmentTNF1.51
370Hemophagocytic lymphohistiocytosis, familial, 1EnrichmentPRF11.50
371Diffuse cutaneous systemic sclerosisEnrichmentIRF51.50
372Idiopathic aplastic anemiaEnrichmentPRF11.50
373Primary hyperaldosteronismEnrichmentTP531.49
374Hereditary breast carcinomaEnrichmentAKT1, TP531.49
375Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K11.49
376Ear malformationEnrichmentAIFM11.48
377Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF1.45
378Focal epilepsyEnrichmentSPTAN11.45
379Childhood-onset nemaline myopathyEnrichmentACTA11.45
380Leukemia, chronic lymphocyticEnrichmentTP531.45
381Familial colorectal cancerEnrichmentTP531.45
382Auditory neuropathyEnrichmentAIFM11.45
383Lung non-small cell carcinomaEnrichmentMAP2K11.44
384Specific learning disabilityEnrichmentMAPK11.44
385Hemihyperplasia, isolatedEnrichmentIGF21.42
386Immunodeficiency-centromeric instability-facial anomalies syndromeEnrichmentHELLS1.42
387Limited sclerodermaEnrichmentIRF51.42
388Lung squamous cell carcinomaEnrichmentCDKN2A1.42
389Myelodysplastic syndromeEnrichmentTP531.41
390MeningiomaEnrichmentAKT11.41
391Perrault syndrome 1EnrichmentDAP31.40
392RhabdomyosarcomaEnrichmentCBL1.40
393Early-onset parkinson's diseaseEnrichmentHTRA21.38
394Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.37
395AchromatopsiaEnrichmentATF61.37
396Silver-russell syndrome 1EnrichmentIGF21.36
397Overgrowth syndromeEnrichmentPIK3R11.36
398Neuronal ceroid lipofuscinosisEnrichmentCTSD1.31
399Cat eye syndromeEnrichmentACTG11.30
400Nemaline myopathyEnrichmentACTA11.30
401Isolated split hand-split foot malformationEnrichmentTP631.30
402Severe covid-19EnrichmentCASP101.28
403Rheumatoid arthritisEnrichmentIRF51.25
404Heart, malformation ofEnrichmentMAPK11.24
405Arteriovenous malformations of the brainEnrichmentMAP4K41.21
406Aplastic anemiaEnrichmentPRF11.21
407MelanomaEnrichmentCDKN2A1.21
408Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.21
409Human immunodeficiency virus type 1EnrichmentCCR51.20
410Sensorineural hearing lossEnrichmentAIFM11.19
411ThrombocytopeniaEnrichmentCYCS1.19
412Diffuse large b-cell lymphomaEnrichmentTP531.18
413Leukemia, acute lymphoblasticEnrichmentCDKN2A1.17
414HepatoblastomaEnrichmentTP531.14
415Congenital myopathy 4a, autosomal dominantEnrichmentACTA11.13
416Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.12
417Diamond-blackfan anemia 1EnrichmentTP531.10
418Premature menopauseEnrichmentTP631.10
419Nk-cell enteropathyEnrichmentIGF1R1.10
420Myocardial infarctionEnrichmentLTA1.04
421Wilms tumor 1EnrichmentIGF21.04
422Male infertility with spermatogenesis disorderEnrichmentTP631.04
423Congenital myopathyEnrichmentACTA11.03
424Prostate cancerEnrichmentTP531.00
425LissencephalyEnrichmentACTG10.99
426Centronuclear myopathyEnrichmentACTA10.99
427Melanoma, cutaneous malignant 1EnrichmentCDKN2A0.98
428Cleft palate, isolatedEnrichmentIRF60.98
429Familial hypertrophic cardiomyopathyEnrichmentRAF10.98
430Beckwith-wiedemann syndromeEnrichmentIGF20.96
431Left ventricular noncompactionEnrichmentRAF10.96
432Fetal akinesia deformation sequence 1EnrichmentASAH10.94
433Jeune thoracic dystrophyEnrichmentSPTAN10.92
434Diamond-blackfan anemiaEnrichmentTP530.91
435Hydrops fetalis, nonimmuneEnrichmentACTA10.91
436Benign epilepsy with centrotemporal spikesEnrichmentASAH10.89
437MicrocephalyEnrichmentACTB, ACTG10.89
438Distal arthrogryposisEnrichmentASAH10.88
439Autosomal recessive non-syndromic intellectual disabilityEnrichmentCRADD0.88
440Tooth agenesisEnrichmentIRF60.88
441Asphyxiating thoracic dystrophyEnrichmentSPTAN10.88
442Centralopathic epilepsyEnrichmentASAH10.88
443Leukemia, acute myeloidEnrichmentTP530.87
444Type 2 diabetes mellitusEnrichmentPTPN10.85
445Non-immune hydrops fetalisEnrichmentACTA10.83
446Connective tissue diseaseEnrichmentACTA20.82
447Peripheral nervous system diseaseEnrichmentNGF0.82
448NeuropathyEnrichmentNGF0.82
449Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentSPTAN10.81
450CakutEnrichmentACTG10.80
451Familial isolated dilated cardiomyopathyEnrichmentRAF10.79
452Developmental and epileptic encephalopathyEnrichmentSPTAN10.77
453Non-syndromic genetic deafnessEnrichmentACTG10.77
454Myeloma, multipleEnrichmentTP530.74
455MyopathyEnrichmentACTA10.73
456Hereditary spastic paraplegiaEnrichmentSPTAN10.71
457Nonsyndromic hearing lossEnrichmentACTG10.71
458West syndromeEnrichmentSPTAN10.70
459Familial thoracic aortic aneurysm and aortic dissectionEnrichmentACTA20.70
460Inherited cancer-predisposing syndromeEnrichmentCDKN2A, TP530.68
461Dilated cardiomyopathyEnrichmentRAF10.63
462Spastic ataxiaEnrichmentSPTAN10.62
463Cone-rod dystrophy 2EnrichmentATF60.59
464Congenital nervous system abnormalityEnrichmentASAH10.53
465Nervous system diseaseEnrichmentASAH10.53
466Autism spectrum disorderEnrichmentMAP2K10.52
467Complex neurodevelopmental disorderEnrichmentMADD0.51
468Primary ovarian insufficiencyEnrichmentTP630.50
469Rare genetic deafnessEnrichmentACTG10.48
470Hereditary retinal dystrophyEnrichmentATF60.14
471Fundus dystrophyEnrichmentATF60.14

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