Apoptosis

Pathway network for the Apoptosis SuperPath

Sources:
  • Reactome

Pathways in the Apoptosis SuperPath

#NameSourceGenes
1ApoptosisReactome
2Programmed Cell DeathReactome
3Caspase activation via extrinsic apoptotic signalling pathwayReactome
4Caspase activation via Death Receptors in the presence of ligandReactome
5Caspase activation via Dependence Receptors in the absence of ligandReactome

Gene overlap in member pathways for Apoptosis SuperPath

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

Disorders associated with Apoptosis SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Adrenocortical carcinomaEnrichmentCDKN2A, CTNNB1, TP534.91
2Hepatocellular carcinomaEnrichmentAPC, CASP8, CTNNB1, TP534.47
3Adult hepatocellular carcinomaEnrichmentCASP8, CTNNB1, TP534.30
4Gastric cancerEnrichmentAPC, CDKN2A, IL1B, IRF1, TP534.06
5Desmoid disease, hereditaryEnrichmentAPC, CTNNB13.66
6Desmoid tumorEnrichmentAPC, CTNNB13.66
7Autosomal dominant optic atrophy, classic formEnrichmentDNM1L, OPA13.66
8CraniopharyngiomaEnrichmentAPC, CTNNB13.36
9Ovarian cancerEnrichmentAKT1, APC, CDKN2A, CTNNB1, PRKN, TP533.15
10Histiocytoid hemangiomaEnrichmentLMNA, VIM3.14
11Caspase 8 deficiencyEnrichmentCASP83.13
12Encephalopathy, acute, infection-induced 6EnrichmentTICAM13.13
13Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD3.13
14Macular degeneration, age-related, 10EnrichmentTLR43.13
15Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK13.13
16HepatoblastomaEnrichmentAPC, CTNNB1, TP533.13
17Li-fraumeni syndromeEnrichmentCDKN2A, TP532.97
18Breast adenocarcinomaEnrichmentAKT1, TP532.97
19Immunodeficiency 57 with autoinflammationEnrichmentRIPK12.83
20Oculootodental syndromeEnrichmentFADD2.83
21Gallbladder cancerEnrichmentCTNNB1, TP532.82
22B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentCDKN2A, TP532.82
23Bladder cancerEnrichmentCDKN2A, CTNNB1, TP532.71
24PolymicrogyriaEnrichmentAKT3, PSMC32.50
25Herpes simplex virus encephalitisEnrichmentTICAM12.43
26Specific learning disabilityEnrichmentMAPK1, YWHAG2.41
27Breast cancerEnrichmentAKT1, APC, CASP8, TP532.40
28Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK12.35
29Il10-related early-onset inflammatory bowel diseaseEnrichmentRIPK12.35
30Lip and oral cavity carcinomaEnrichmentCDKN2A, TP532.34
31Lung cancerEnrichmentCASP8, IRF1, PRKN2.33
32MedulloblastomaEnrichmentAPC, CTNNB12.20
33Hereditary breast carcinomaEnrichmentAKT1, APC, TP532.19
34Colorectal cancerEnrichmentAKT1, APC, CTNNB1, TP532.17
35Immune deficiency diseaseEnrichmentRIPK12.09
36Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalEnrichmentLMNB12.06
37Proteus syndromeEnrichmentAKT12.06
38Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.06
39Deafness, autosomal dominant 51EnrichmentTJP22.06
40Brachyphalangy, polydactyly, and tibial aplasia/hypoplasiaEnrichmentHMGB12.06
41Optic atrophy 5EnrichmentDNM1L2.06
42Developmental and epileptic encephalopathy 5EnrichmentSPTAN12.06
43Encephalopathy due to defective mitochondrial and peroxisomal fission 1EnrichmentDNM1L2.06
44Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.06
45Noonan syndrome 13EnrichmentMAPK12.06
46Neurodevelopmental disorder with microcephaly, hypotonia, and absent languageEnrichmentPSMB12.06
47Developmental delay with dysmorphic facies and dental anomaliesEnrichmentSATB12.06
48Combined oxidative phosphorylation deficiency 33EnrichmentC1QBP2.06
49Knobloch syndrome 2EnrichmentPAK22.06
50Bone marrow failure syndrome 5EnrichmentTP532.06
51Stankiewicz-isidor syndromeEnrichmentPSMD122.06
52Papilloma of choroid plexusEnrichmentTP532.06
53Basal cell carcinoma 7EnrichmentTP532.06
54Deafness, dystonia, and cerebral hypomyelinationEnrichmentBCAP312.06
55Spermatogenic failure 99EnrichmentSEPTIN42.06
56Anaplastic thyroid carcinomaEnrichmentTP532.06
57T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.06
58Adult onset demyelinating leukodystrophyEnrichmentLMNB12.06
59Deafness, cataract, impaired intellectual development, and polyneuropathyEnrichmentPSMC32.06
60Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.06
61Deafness, autosomal dominant 5EnrichmentGSDME2.06
62Dominant hereditary optic atrophyEnrichmentOPA12.06
63Cowden syndrome 6EnrichmentAKT12.06
64Microcephaly 26, primary, autosomal dominantEnrichmentLMNB12.06
65Ductal carcinoma in situEnrichmentTP532.06
66Developmental and epileptic encephalopathy 56EnrichmentYWHAG2.06
67Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.06
68Atypical werner syndromeEnrichmentLMNA2.06
69Blistering, acantholytic, of oral and laryngeal mucosaEnrichmentDSG32.06
70Den hoed-de boer-voisin syndromeEnrichmentSATB12.06
71Thyroid gland undifferentiated carcinomaEnrichmentTP532.06
72Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.06
73Adenoid ameloblastomaEnrichmentCTNNB12.06
74Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN12.06
75Developmental delay with or without epilepsyEnrichmentSPTAN12.06
76Cdkn2a cancer predispositionEnrichmentCDKN2A2.06
77Mandibuloacral dysplasiaEnrichmentLMNA2.06
78Atrioventricular blockEnrichmentLMNA2.06
79Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN12.06
80Capillary hemangiomaEnrichmentAKT32.06
81Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.06
82Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.06
83Choroid plexus cancerEnrichmentTP532.06
84Familial adenomatous polyposisEnrichmentAPC2.06
85Pleomorphic xanthoastrocytomaEnrichmentTP532.06
86Lmna-related cardiocutaneous progeria syndromeEnrichmentLMNA2.06
87Gardner syndromeEnrichmentAPC2.06
885q22 microdeletion syndromeEnrichmentAPC2.06
89Attenuated familial adenomatous polyposisEnrichmentAPC2.06
90Autosomal semi-dominant severe lipodystrophic laminopathyEnrichmentLMNA2.06
91Premature agingEnrichmentVIM2.06
92Intellectual disability-acpilepsy-dental anomalies-facial dysmorphism syndromeEnrichmentSATB12.06
93Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.06
94Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE2.06
95Encephalopathy due to mitochondrial and peroxisomal fission defectEnrichmentDNM1L2.06
96Microcystic stromal tumorEnrichmentCTNNB12.06
97Autosomal recessive axonal hereditary motor and sensory neuropathyEnrichmentLMNA2.06
98Akt2-related familial partial lipodystrophyEnrichmentAKT22.06
99LaminopathyEnrichmentLMNA2.06
100Lung cancer susceptibility 3EnrichmentPRKN, TP532.03
101Neuromuscular diseaseEnrichmentLMNA, SPTAN11.99
102Cataract 31, multiple typesEnrichmentCHMP4B1.97
103Leprosy 2EnrichmentPRKN1.97
104Autoimmune disease, multisystem, with facial dysmorphismEnrichmentITCH1.97
105Syndromic multisystem autoimmune disease due to itch deficiencyEnrichmentITCH1.97
106Diffuse large b-cell lymphomaEnrichmentSTAT3, TP531.94
107Behcet syndromeEnrichmentTLR41.86
108Melanoma-astrocytoma syndromeEnrichmentCDKN2A1.77
109Optic atrophy 1EnrichmentOPA11.77
110Adrenocortical carcinoma, hereditaryEnrichmentTP531.77
111Behr syndromeEnrichmentOPA11.77
112Mandibuloacral dysplasia with type a lipodystrophyEnrichmentLMNA1.77
113Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN11.77
114Osteopathia striata with cranial sclerosisEnrichmentCTNNB11.77
115Cervical cancerEnrichmentTP531.77
116Hyperaldosteronism, familial, type iiEnrichmentSATB11.77
117Heart-hand syndrome, slovenian typeEnrichmentLMNA1.77
118Charcot-marie-tooth disease, axonal, type 2b1EnrichmentLMNA1.77
119Melanoma, cutaneous malignant 2EnrichmentCDKN2A1.77
120Cardiomyopathy, dilated, with hypergonadotropic hypogonadismEnrichmentLMNA1.77
121Mitochondrial dna depletion syndrome 14EnrichmentOPA11.77
122Cholestasis, progressive familial intrahepatic, 4EnrichmentTJP21.77
123Lymphoma, hodgkin, classicEnrichmentTP531.77
124Optic atrophy 8EnrichmentOPA11.77
125Cardiomyopathy, dilated, 1dEnrichmentLMNA1.77
126Restrictive dermopathy 2EnrichmentLMNA1.77
127Emery-dreifuss muscular dystrophy 3, autosomal recessiveEnrichmentLMNA1.77
128Birk-aharoni syndromeEnrichmentPSMC11.77
129Proteasome-associated autoinflammatory syndrome 3EnrichmentPSMB41.77
130Intravascular large b-cell lymphomaEnrichmentBCL21.77
131Childhood hepatocellular carcinomaEnrichmentCTNNB11.77
132Senior-loken syndrome 7EnrichmentAKT31.77
133Melanoma-pancreatic cancer syndromeEnrichmentCDKN2A1.77
134Cataract 30EnrichmentVIM1.77
135Lipodystrophy, familial partial, type 1EnrichmentLMNA1.77
136Congenital fibrosarcomaEnrichmentTP531.77
137Li-fraumeni syndrome 1EnrichmentTP531.77
138SarcomaEnrichmentTP531.77
139Periampullary adenomaEnrichmentAPC1.77
140Gastric adenocarcinoma and proximal polyposis of the stomachEnrichmentAPC1.77
141Cervix carcinomaEnrichmentTP531.77
142Hodgkin's lymphomaEnrichmentTP531.77
143Autosomal dominant primary microcephalyEnrichmentLMNB11.77
144Bardet-biedl syndrome 16EnrichmentAKT31.77
14517q24.2 microdeletion syndromeEnrichmentPSMD121.77
146Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB11.77
147Familial partial lipodystrophyEnrichmentLMNA1.77
148CaddsEnrichmentBCAP311.77
149TeratomaEnrichmentCTNNB11.77
150Charcot-marie-tooth disease type 2b1EnrichmentLMNA1.77
151Pleomorphic rhabdomyosarcomaEnrichmentTP531.77
152Submucosal cleft palateEnrichmentUBB1.77
153Cleft hard palateEnrichmentUBB1.77
154Pancreatic cancerEnrichmentCDKN2A, TP531.71
155Cyclic neutropeniaEnrichmentELANE1.68
156Neutropenia, severe congenital, x-linkedEnrichmentELANE1.68
157Parkinson disease 12EnrichmentPRKN1.68
158Spinocerebellar ataxia 48EnrichmentSTUB11.68
159Immunodeficiency 117EnrichmentIRF11.68
160MicrocephalyEnrichmentCTNNB1, MAPK1, PSMC3, YWHAG1.66
161Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.59
162Proteasome-associated autoinflammatory syndrome 1EnrichmentPSMB41.59
163Uvula, bifidEnrichmentUBB1.59
164Restrictive dermopathy 1EnrichmentLMNA1.59
165Osteogenic sarcomaEnrichmentTP531.59
166Cleft soft palateEnrichmentUBB1.59
167Hypercholanemia, familial 1EnrichmentTJP21.59
168Nasopharyngeal carcinomaEnrichmentTP531.59
169Glaucoma, normal tensionEnrichmentOPA11.59
170Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.59
171Lipodystrophy, familial partial, type 2EnrichmentLMNA1.59
172Cenani-lenz syndactyly syndromeEnrichmentAPC1.59
173Miller-dieker lissencephaly syndromeEnrichmentYWHAE1.59
174Muscular dystrophy, congenital, lmna-relatedEnrichmentLMNA1.59
175Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE1.59
176Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN11.59
177Anus, imperforateEnrichmentCTNNB11.59
178Exudative vitreoretinopathy 7EnrichmentCTNNB11.59
179Breast implant-associated anaplastic large cell lymphomaEnrichmentSTAT31.59
180Hyper ige syndromeEnrichmentSTAT31.59
181High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL21.59
182Proteosome-associated autoinflammatory syndromeEnrichmentPSMB41.59
183Atypical teratoid rhabdoid tumorEnrichmentTP531.59
184Anaplastic astrocytomaEnrichmentTP531.59
185Squamous cell carcinomaEnrichmentTP531.59
186AdenocarcinomaEnrichmentTP531.59
187Bone osteosarcomaEnrichmentTP531.59
188Restrictive dermopathyEnrichmentLMNA1.59
189Colon adenocarcinomaEnrichmentAPC1.59
190Thyroid hemiagenesisEnrichmentPSMD31.59
191Apc-associated polyposis conditionsEnrichmentAPC1.59
192Neutropenia, severe congenital, 1, autosomal dominantEnrichmentELANE1.50
193Hutchinson-gilford progeria syndromeEnrichmentLMNA1.47
194Small cell cancer of the lungEnrichmentTP531.47
195Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentLMNA1.47
196Thyroid cancer, nonmedullary, 1EnrichmentTP531.47
197Microtia-anotiaEnrichmentLMNA1.47
198Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT31.47
199Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.47
200Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT31.47
201PilomatrixomaEnrichmentCTNNB11.47
202Alazami syndromeEnrichmentCTNNB11.47
203Emery-dreifuss muscular dystrophyEnrichmentLMNA1.47
204Lung sarcomatoid carcinomaEnrichmentTP531.47
205Embryonal rhabdomyosarcomaEnrichmentTP531.47
206Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentYWHAZ1.47
207Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN11.47
208Knobloch syndromeEnrichmentPAK21.47
209Sick sinus syndromeEnrichmentLMNA1.47
210Mitochondrial diseaseEnrichmentC1QBP, DNM1L, OPA11.41
211Hereditary breast ovarian cancer syndromeEnrichmentRIPK11.40
212Complex hereditary spastic paraplegiaEnrichmentPRKN1.38
213Exudative vitreoretinopathy 1EnrichmentCTNNB11.37
2143-methylglutaconic aciduria, type iiiEnrichmentOPA11.37
215Rhabdomyosarcoma 2EnrichmentTP531.37
216Knobloch syndrome 1EnrichmentPAK21.37
217Familial adenomatous polyposis 1EnrichmentAPC1.37
218Follicular lymphomaEnrichmentBCL21.37
219LymphomaEnrichmentTP531.37
220Autosomal recessive limb-girdle muscular dystrophy type 2bEnrichmentLMNA1.37
221Acute megakaryocytic leukemiaEnrichmentTP531.37
222HemimegalencephalyEnrichmentAKT31.37
223Endometrial stromal sarcomaEnrichmentYWHAE1.37
224Developmental dysplasia of the hip 1EnrichmentPSMC31.30
225Branchiootorenal syndrome 1EnrichmentTJP21.30
226Emery-dreifuss muscular dystrophy 2, autosomal dominantEnrichmentLMNA1.30
227Weyers acrofacial dysostosisEnrichmentCTNNB11.30
228Patent ductus arteriosusEnrichmentPSMC31.30
229Lung squamous cell carcinomaEnrichmentCDKN2A1.30
230Familial hypercholanemiaEnrichmentTJP21.30
231Kidney clear cell sarcomaEnrichmentYWHAE1.30
232Cataract 6, multiple typesEnrichmentCHMP4B1.28
233Lymphoma, mucosa-associated lymphoid typeEnrichmentBIRC31.28
234Parkinson disease 2, autosomal recessive juvenileEnrichmentPRKN1.28
235Parkin type of early-onset parkinson diseaseEnrichmentPRKN1.28
236Autosomal dominant severe congenital neutropeniaEnrichmentELANE1.28
237Esophageal cancerEnrichmentTP531.23
238Bethlem myopathy 1aEnrichmentLMNA1.23
239Squamous cell carcinoma, head and neckEnrichmentTP531.23
240Branchiootorenal syndromeEnrichmentTJP21.23
241Essential thrombocythemiaEnrichmentTP531.23
242MegacolonEnrichmentAKT31.23
243Focal epilepsyEnrichmentSPTAN11.23
244Spinocerebellar ataxia, autosomal recessive 16EnrichmentSTUB11.21
245Glioma susceptibility 1EnrichmentTP531.17
246Lymphoma, non-hodgkin, familialEnrichmentTP531.17
247Exudative vitreoretinopathyEnrichmentCTNNB11.17
248Congenital muscular dystrophyEnrichmentLMNA1.17
249MyocarditisEnrichmentLMNA1.17
250Permanent neonatal diabetes mellitusEnrichmentSTAT31.17
251Isolated split hand-split foot malformationEnrichmentSEM11.17
252Male infertility due to globozoospermiaEnrichmentSEPTIN41.17
253Semantic dementiaEnrichmentCHMP2B1.14
254NeutropeniaEnrichmentELANE1.14
255Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentGSDME, TJP21.13
256Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentLMNA1.12
257Primary hyperaldosteronismEnrichmentTP531.12
258Colonic benign neoplasmEnrichmentAPC1.12
259Primary biliary cholangitisEnrichmentTJP21.12
260Cowden syndromeEnrichmentAKT11.12
261Autosomal dominant cerebellar ataxiaEnrichmentOPA11.12
262Early-onset posterior polar cataractEnrichmentCHMP4B1.09
263Cataract 30, multiple typesEnrichmentVIM1.08
264Leukemia, chronic lymphocyticEnrichmentTP531.08
265MelanomaEnrichmentCDKN2A1.08
266Familial colorectal cancerEnrichmentTP531.08
267Leukemia, acute lymphoblasticEnrichmentCDKN2A1.04
268Myelodysplastic syndromeEnrichmentTP531.04
269Progressive non-fluent aphasiaEnrichmentCHMP2B1.04
270Behavioral variant of frontotemporal dementiaEnrichmentCHMP2B1.04
271Cardiac conduction defectEnrichmentLMNA1.01
272Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentLMNA1.01
273MeningiomaEnrichmentAKT11.01
274Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentLMNA1.01
275Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentLMNA1.01
276Inherited cancer-predisposing syndromeEnrichmentAPC, CDKN2A, TP530.98
277Acute promyelocytic leukemiaEnrichmentSTAT30.97
278Lung non-small cell carcinomaEnrichmentIRF10.96
279Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentLMNA0.94
280Early-onset parkinson's diseaseEnrichmentPRKN0.92
281Arrhythmogenic right ventricular cardiomyopathyEnrichmentLMNA0.89
282RhabdomyosarcomaEnrichmentTP530.89
283GliosarcomaEnrichmentTP530.89
284Melanoma, cutaneous malignant 1EnrichmentCDKN2A0.86
285Cardiomyopathy, dilated, 1eEnrichmentLMNA0.86
286Polycystic liver diseaseEnrichmentCTNNB10.86
287Giant cell glioblastomaEnrichmentTP530.86
288Autosomal dominant polycystic liver diseaseEnrichmentCTNNB10.86
289Heart, malformation ofEnrichmentMAPK10.84
290Patent foramen ovaleEnrichmentPSMC30.84
291Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentLMNA0.82
292Cardiomyopathy, dilated, 1aEnrichmentLMNA0.78
293Centronuclear myopathyEnrichmentOPA10.78
294Myocardial infarctionEnrichmentPSMA60.76
295Diamond-blackfan anemia 1EnrichmentTP530.74
296Precursor t-cell acute lymphoblastic leukemiaEnrichmentCDKN2A0.74
297Parkinson's diseaseEnrichmentPRKN0.74
298Cardiomyopathy, familial hypertrophic, 1EnrichmentLMNA0.73
299Muscular dystrophyEnrichmentLMNA0.73
300Jeune thoracic dystrophyEnrichmentSPTAN10.71
301Brugada syndromeEnrichmentLMNA0.70
302Auditory neuropathyEnrichmentOPA10.70
303Asphyxiating thoracic dystrophyEnrichmentSPTAN10.67
304Prostate cancerEnrichmentTP530.65
305Parkinson disease, late-onsetEnrichmentPRKN0.65
306Autoinflammatory diseaseEnrichmentELANE0.65
307Stargardt disease 1EnrichmentOPA10.64
308Long qt syndromeEnrichmentLMNA0.63
309Peripheral nervous system diseaseEnrichmentLMNA0.62
310NeuropathyEnrichmentLMNA0.62
311Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentSPTAN10.60
312Left ventricular noncompactionEnrichmentLMNA0.58
313Developmental and epileptic encephalopathyEnrichmentSPTAN10.57
314Diamond-blackfan anemiaEnrichmentTP530.57
315Leukemia, acute myeloidEnrichmentTP530.53
316Charcot-marie-tooth diseaseEnrichmentLMNA0.52
317Benign epilepsy with centrotemporal spikesEnrichmentSPTAN10.52
318Type 2 diabetes mellitusEnrichmentAKT20.52
319Hereditary spastic paraplegiaEnrichmentSPTAN10.52
320Centralopathic epilepsyEnrichmentSPTAN10.51
321Optic atrophy plus syndromeEnrichmentOPA10.50
322West syndromeEnrichmentSPTAN10.50
323Systemic lupus erythematosusEnrichmentUBE2L30.47
324Body mass index quantitative trait locus 11EnrichmentDNM1L0.45
325Autosomal dominant non-syndromic intellectual disabilityEnrichmentYWHAZ0.45
326Spastic ataxiaEnrichmentSPTAN10.43
327Familial isolated dilated cardiomyopathyEnrichmentLMNA0.43
328Myeloma, multipleEnrichmentTP530.41
329Undetermined early-onset epileptic encephalopathyEnrichmentYWHAG0.41
330Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCHMP2B0.34
331SchizophreniaEnrichmentPRKN0.33
332Rare genetic deafnessEnrichmentGSDME0.30
333Dilated cardiomyopathyEnrichmentLMNA0.30
334AutismEnrichmentPRKN0.27
335Congenital nervous system abnormalityEnrichmentCTNNB10.22
336Nervous system diseaseEnrichmentCTNNB10.22
337Complex neurodevelopmental disorderEnrichmentPSMD120.18
338Autism spectrum disorderEnrichmentPRKN0.16
339Hereditary retinal dystrophyEnrichmentOPA10.04
340Fundus dystrophyEnrichmentOPA10.04

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