Apoptosis and survival FAS signaling cascades

Pathway network for the Apoptosis and survival FAS signaling cascades SuperPath

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

Pathways in the Apoptosis and survival FAS signaling cascades SuperPath

#NameSourceGenes
1Apoptosis and survival FAS signaling cascadesGeneGo (Thomson Reuters)
2Caspase Cascade in ApoptosisPubChem
3Fas SignalingQIAGEN
4Fas ligand pathway and stress induction of heat shock proteinsWikiPathways
5Apoptosis and survival Caspase cascadeGeneGo (Thomson Reuters)

Gene overlap in member pathways for Apoptosis and survival FAS signaling cascades SuperPath

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

Disorders associated with Apoptosis and survival FAS signaling cascades SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Autoimmune lymphoproliferative syndromeEnrichmentCASP10, FAS, FASLG7.24
2Baraitser-winter cerebrofrontofacial syndromeEnrichmentACTB, ACTG15.03
3Neuromuscular diseaseEnrichmentACTA1, LMNA, SPTAN14.66
4Insulin-like growth factor iEnrichmentIGF1, IGF1R4.22
5Lung cancerEnrichmentCASP8, FAS, FASLG4.17
6Autoinflammatory diseaseEnrichmentPRF1, TNFRSF1A, XIAP3.97
7Typical nemaline myopathyEnrichmentACTA1, CFL23.65
8Lymphoma, non-hodgkin, familialEnrichmentCASP10, PRF13.38
9Behcet syndromeEnrichmentFAS, TNFRSF1A2.99
10Alzheimer's diseaseEnrichmentAPP, TNF2.94
11Noonan syndrome and noonan-related syndromeEnrichmentMAP2K1, RAF12.83
12MalariaEnrichmentMAPKAPK3, TNF2.64
13Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A2.60
14Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalEnrichmentLMNB12.60
15Proteus syndromeEnrichmentAKT12.60
16Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.60
17Lymphoproliferative syndrome, x-linked, 2EnrichmentXIAP2.60
18Caspase 8 deficiencyEnrichmentCASP82.60
19Adult onset demyelinating leukodystrophyEnrichmentLMNB12.60
20Epilepsy, progressive myoclonic, 9EnrichmentLMNB22.60
21Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.60
22Thrombocytopenia 4EnrichmentCYCS2.60
23Autoimmune lymphoproliferative syndrome, type iiaEnrichmentCASP102.60
24Lipodystrophy, partial, acquiredEnrichmentLMNB22.60
25Intellectual developmental disorder, autosomal recessive 34, with variant lissencephalyEnrichmentCRADD2.60
26Multiple sclerosis 5EnrichmentTNFRSF1A2.60
27Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunctionEnrichmentFADD2.60
28Cowden syndrome 6EnrichmentAKT12.60
29Microcephaly 26, primary, autosomal dominantEnrichmentLMNB12.60
30Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A2.60
31Atypical werner syndromeEnrichmentLMNA2.60
32Autoinflammation with episodic fever and lymphadenopathyEnrichmentRIPK12.60
33Microcephaly 27, primary, autosomal dominantEnrichmentLMNB22.60
34Intellectual developmental disorder, autosomal recessive 80, with variant lissencephalyEnrichmentCASP22.60
35Mandibuloacral dysplasiaEnrichmentLMNA2.60
36Atrioventricular blockEnrichmentLMNA2.60
37Capillary hemangiomaEnrichmentAKT32.60
38Lmna-related cardiocutaneous progeria syndromeEnrichmentLMNA2.60
39Autosomal semi-dominant severe lipodystrophic laminopathyEnrichmentLMNA2.60
40Autosomal recessive axonal hereditary motor and sensory neuropathyEnrichmentLMNA2.60
41Akt2-related familial partial lipodystrophyEnrichmentAKT22.60
42LaminopathyEnrichmentLMNA2.60
43Centronuclear myopathyEnrichmentACTA1, CFL22.52
44Cardiospondylocarpofacial syndromeEnrichmentMAP3K72.51
45Baraitser-winter syndrome 1EnrichmentACTB2.51
46Congenital myopathy 2a, typical, autosomal dominantEnrichmentACTA12.51
47Developmental and epileptic encephalopathy 5EnrichmentSPTAN12.51
48Myopathy, scapulohumeroperonealEnrichmentACTA12.51
4946,xy sex reversal 6EnrichmentMAP3K12.51
50Frontometaphyseal dysplasia 2EnrichmentMAP3K72.51
51Knobloch syndrome 2EnrichmentPAK22.51
52Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.51
53Congenital smooth muscle hamartoma, with or without hemihypertrophyEnrichmentACTB2.51
54Charcot-marie-tooth disease, axonal, type 2fEnrichmentHSPB12.51
55Becker nevus syndromeEnrichmentACTB2.51
56Dystonia-deafness syndrome 1EnrichmentACTB2.51
57Congenital myopathy 2b, severe infantile, autosomal recessiveEnrichmentACTA12.51
58Immunodeficiency 26 with or without neurologic abnormalitiesEnrichmentPRKDC2.51
59Macular dystrophy, patterned, 3EnrichmentMAPKAPK32.51
60Congenital myopathy 2c, severe infantile, autosomal dominantEnrichmentACTA12.51
61Thrombocytopenia 8, with dysmorphic features and developmental delayEnrichmentACTB2.51
62Trilateral retinoblastomaEnrichmentRB12.51
63Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxiaEnrichmentSPTAN12.51
64Developmental delay with or without epilepsyEnrichmentSPTAN12.51
65Baraitser-winter syndromeEnrichmentACTB2.51
66Neuronopathy, distal hereditary motor, autosomal dominant 11EnrichmentSPTAN12.51
67Zebra body myopathyEnrichmentACTA12.51
68Congenital smooth muscle hamartomaEnrichmentACTB2.51
69Developmental malformations-deafness-dystonia syndromeEnrichmentACTB2.51
70Actin-accumulation myopathyEnrichmentACTA12.51
71Lung oat cell carcinomaEnrichmentRB12.51
72Parkinson disease 13, autosomal dominantEnrichmentHTRA22.49
73Orofacial cleft 10EnrichmentSUMO12.49
74Noonan syndrome 1EnrichmentMAP2K1, RAF12.46
75Cardiomyopathy, familial hypertrophic, 1EnrichmentLMNA, RAF12.42
76Incontinentia pigmentiEnrichmentIKBKG2.42
77Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.42
78Noonan syndrome 5EnrichmentRAF12.42
79Melorheostosis, isolatedEnrichmentMAP2K12.42
80Cardiomyopathy, dilated, 1nnEnrichmentRAF12.42
81Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.42
82Fetal encasement syndromeEnrichmentCHUK2.42
83Immunodeficiency 15bEnrichmentIKBKB2.42
84Immunodeficiency 15aEnrichmentIKBKB2.42
85Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.42
86Isolated growth hormone deficiency type iiiEnrichmentBTK2.42
87MelorheostosisEnrichmentMAP2K12.42
88Leopard syndrome 2EnrichmentRAF12.42
89Acid sphingomyelinase deficiencyEnrichmentSMPD12.42
90Bartsocas-papas syndrome 2EnrichmentCHUK2.42
91TrigonitisEnrichmentRAF12.42
92Immunodeficiency 112EnrichmentMAP3K142.42
93Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.42
94Nik deficiencyEnrichmentMAP3K142.42
95Hemophagocytic lymphohistiocytosis, familial, 2EnrichmentPRF12.41
96Amyloidosis, finnish typeEnrichmentGSN2.41
97Mucoepithelial dysplasia, hereditaryEnrichmentSREBF12.41
98Developmental delay with dysmorphic facies and dental anomaliesEnrichmentSATB12.41
99Deafness, autosomal recessive 125EnrichmentGAS22.41
100Deeah syndromeEnrichmentMADD2.41
101Ifap syndrome 2EnrichmentSREBF12.41
102Nemaline myopathy 7EnrichmentCFL22.41
103Cerebral amyloid angiopathy, app-relatedEnrichmentAPP2.41
104Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotoniaEnrichmentMADD2.41
105Den hoed-de boer-voisin syndromeEnrichmentSATB12.41
106Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephalyEnrichmentPIDD12.41
107Premature agingEnrichmentVIM2.41
108Fatal post-viral neurodegenerative disorderEnrichmentPRF12.41
109Intellectual disability-acpilepsy-dental anomalies-facial dysmorphism syndromeEnrichmentSATB12.41
110RasopathyEnrichmentMAP2K1, RAF12.35
111Type 2 diabetes mellitusEnrichmentAKT2, IRS12.31
112Mandibuloacral dysplasia with type a lipodystrophyEnrichmentLMNA2.30
113Lipomatosis, multiple symmetric, with or without axonal peripheral neuropathyEnrichmentLMNB22.30
114Heart-hand syndrome, slovenian typeEnrichmentLMNA2.30
115Charcot-marie-tooth disease, axonal, type 2b1EnrichmentLMNA2.30
116Cardiomyopathy, dilated, with hypergonadotropic hypogonadismEnrichmentLMNA2.30
117Cardiomyopathy, dilated, 1dEnrichmentLMNA2.30
118Restrictive dermopathy 2EnrichmentLMNA2.30
119Emery-dreifuss muscular dystrophy 3, autosomal recessiveEnrichmentLMNA2.30
120Immunodeficiency 127EnrichmentTNF2.30
121Senior-loken syndrome 7EnrichmentAKT32.30
122Lipodystrophy, familial partial, type 1EnrichmentLMNA2.30
123Autosomal dominant primary microcephalyEnrichmentLMNB12.30
124Bardet-biedl syndrome 16EnrichmentAKT32.30
125Immunodeficiency 57 with autoinflammationEnrichmentRIPK12.30
126Intermittent hydrarthrosisEnrichmentTNFRSF1A2.30
127Familial partial lipodystrophyEnrichmentLMNA2.30
128Growth delay due to insulin-like growth factor type 1 deficiencyEnrichmentIGF12.30
129Charcot-marie-tooth disease type 2b1EnrichmentLMNA2.30
130Oculootodental syndromeEnrichmentFADD2.30
131Intellectual developmental disorder, x-linked, syndromic, raymond typeEnrichmentSPTAN12.21
132Deafness, autosomal dominant 20EnrichmentACTG12.21
133Neuronopathy, distal hereditary motor, autosomal dominant 3EnrichmentHSPB12.21
134Baraitser-winter syndrome 2EnrichmentACTG12.21
135Chromosome 13q14 deletion syndromeEnrichmentRB12.21
136Intravascular large b-cell lymphomaEnrichmentBCL22.21
137Familial retinoblastomaEnrichmentRB12.21
138Deafness, autosomal dominant 64EnrichmentDIABLO2.19
139Charcot-marie-tooth diseaseEnrichmentHSPB1, LMNA2.15
140Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG2.12
141Restrictive dermopathy 1EnrichmentLMNA2.12
142Psoriatic arthritisEnrichmentTNF2.12
143Lipodystrophy, familial partial, type 2EnrichmentLMNA2.12
144Muscular dystrophy, congenital, lmna-relatedEnrichmentLMNA2.12
145T-cell acute lymphoblastic leukemiaEnrichmentBAX2.12
146Migraine without auraEnrichmentTNF2.12
147Restrictive dermopathyEnrichmentLMNA2.12
148Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R2.12
149Vogt-koyanagi-harada diseaseEnrichmentFAS2.12
150Immunodeficiency 33EnrichmentIKBKG2.12
151Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK2.12
152Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.12
153Agammaglobulinemia, x-linkedEnrichmentBTK2.12
154Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG2.12
155Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG2.12
156Common variable immunodeficiency 12EnrichmentNFKB12.12
157Cerebral amyloid angiopathy, cst3-relatedEnrichmentAPP2.11
158Hyperaldosteronism, familial, type iiEnrichmentSATB12.11
159Cataract 30EnrichmentVIM2.11
160EsotropiaEnrichmentTFAP2A2.11
161Lens subluxationEnrichmentTFAP2A2.11
162Left ventricular noncompactionEnrichmentLMNA, RAF12.10
163RetinoblastomaEnrichmentRB12.03
164Osteogenic sarcomaEnrichmentRB12.03
165Woolly hair, autosomal recessive 3EnrichmentRB12.03
166Short-rib thoracic dysplasia 11 with or without polydactylyEnrichmentSPTAN12.03
167Hypotrichosis 8EnrichmentRB12.03
168Bacteremia 2EnrichmentMAPKAPK32.03
169High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL22.03
170Frontometaphyseal dysplasiaEnrichmentMAP3K72.03
171Squamous cell carcinomaEnrichmentRB12.03
172Bone osteosarcomaEnrichmentRB12.03
173Hutchinson-gilford progeria syndromeEnrichmentLMNA2.00
174Emery-dreifuss muscular dystrophy 1, x-linkedEnrichmentLMNA2.00
175Microtia-anotiaEnrichmentLMNA2.00
176Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT32.00
177Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT32.00
178Lymphoproliferative syndrome 2EnrichmentXIAP2.00
179Emery-dreifuss muscular dystrophyEnrichmentLMNA2.00
180Sick sinus syndromeEnrichmentLMNA2.00
181Cerebral malariaEnrichmentTNF2.00
182Niemann-pick disease, type aEnrichmentSMPD11.94
183Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK1.94
184Langerhans cell histiocytosisEnrichmentMAP2K11.94
185Niemann-pick disease, type bEnrichmentSMPD11.94
186Agammaglobulinemia 1EnrichmentBTK1.94
187Ceroid lipofuscinosis, neuronal, 6aEnrichmentSMPD11.94
188Ifap syndrome 1, with or without bresheck syndromeEnrichmentSREBF11.93
189Laryngeal squamous cell carcinomaEnrichmentTNFRSF10B1.93
190Cryptogenic cirrhosisEnrichmentKRT181.93
191Small cell cancer of the lungEnrichmentRB11.91
192Nemaline myopathy 2EnrichmentACTA11.91
193Aminoacylase 1 deficiencyEnrichmentACTB1.91
194Lynch syndrome 4EnrichmentRB11.91
195TuberculosisEnrichmentMAPKAPK31.91
196Charcot-marie-tooth hereditary neuropathyEnrichmentSPTAN11.91
197Knobloch syndromeEnrichmentPAK21.91
198Intermediate nemaline myopathyEnrichmentACTA11.91
199Pseudomyogenic hemangioendotheliomaEnrichmentACTB1.91
200Autosomal recessive limb-girdle muscular dystrophy type 2bEnrichmentLMNA1.90
201Histiocytoid hemangiomaEnrichmentLMNA1.90
202Vascular dementiaEnrichmentTNF1.90
203Autosomal thrombocytopenia with normal plateletsEnrichmentCYCS1.90
204HemimegalencephalyEnrichmentAKT31.90
2053-methylglutaconic aciduria, type viiiEnrichmentHTRA21.89
206Emery-dreifuss muscular dystrophy 2, autosomal dominantEnrichmentLMNA1.83
207Inflammatory bowel disease 25, autosomal recessiveEnrichmentRIPK11.83
208Il10-related early-onset inflammatory bowel diseaseEnrichmentRIPK11.83
209Breast adenocarcinomaEnrichmentAKT11.83
210Breast cancerEnrichmentAKT1, CASP81.82
211Cardiofaciocutaneous syndrome 1EnrichmentMAP2K11.82
212Cardiofaciocutaneous syndromeEnrichmentMAP2K11.82
213Noonan syndrome with multiple lentiginesEnrichmentRAF11.82
214Neuronopathy, distal hereditary motor, autosomal dominant 2EnrichmentHSPB11.81
215Congenital myopathy 3 with rigid spineEnrichmentACTA11.81
216Knobloch syndrome 1EnrichmentPAK21.81
217Follicular lymphomaEnrichmentBCL21.81
218Coloboma of choroid and retinaEnrichmentACTG11.81
219Severe congenital nemaline myopathyEnrichmentACTA11.81
220Branchiooculofacial syndromeEnrichmentTFAP2A1.81
221Bethlem myopathy 1aEnrichmentLMNA1.76
222MegacolonEnrichmentAKT31.76
223Familial isolated dilated cardiomyopathyEnrichmentLMNA, RAF11.76
224Lymphoma, mucosa-associated lymphoid typeEnrichmentBIRC31.72
225Niemann-pick disease, type c1EnrichmentSMPD11.72
226Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.72
227Niemann-pick diseaseEnrichmentSMPD11.72
228Hemophagocytic lymphohistiocytosis, familial, 1EnrichmentPRF11.71
229AmblyopiaEnrichmentTFAP2A1.71
230Multiple acyl-coa dehydrogenase deficiency, severe neonatal typeEnrichmentMADD1.71
231Idiopathic aplastic anemiaEnrichmentPRF11.71
232Congenital muscular dystrophyEnrichmentLMNA1.70
233MyocarditisEnrichmentLMNA1.70
234Colorectal cancerEnrichmentAKT1, BAX1.70
235Focal epilepsyEnrichmentSPTAN11.67
236Childhood-onset nemaline myopathyEnrichmentACTA11.67
237Charge syndromeEnrichmentTNFRSF1A1.65
238Arrhythmogenic right ventricular dysplasia, familial, 9EnrichmentLMNA1.65
239Adult hepatocellular carcinomaEnrichmentCASP81.65
240Cowden syndromeEnrichmentAKT11.65
241Familial isolated arrhythmogenic right ventricular dysplasiaEnrichmentCRADD1.65
242Branchiootorenal syndrome 1EnrichmentTFAP2A1.63
243PolymicrogyriaEnrichmentAKT31.61
244Dilated cardiomyopathyEnrichmentACTA1, LMNA1.60
245Lennox-gastaut syndromeEnrichmentMAPK101.59
246Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K11.58
247Noonan syndrome 3EnrichmentRAF11.58
248Pilomyxoid astrocytomaEnrichmentRAF11.58
249Common variable immunodeficiencyEnrichmentNFKB11.58
250Squamous cell carcinoma, head and neckEnrichmentTNFRSF10B1.57
251Alzheimer's disease 1EnrichmentAPP1.57
252Branchiootorenal syndromeEnrichmentTFAP2A1.57
253Early-onset autosomal dominant alzheimer diseaseEnrichmentAPP1.57
254Immune deficiency diseaseEnrichmentRIPK11.56
255AsthmaEnrichmentTNF1.56
256Cardiac conduction defectEnrichmentLMNA1.53
257Muscular dystrophy, limb-girdle, autosomal recessive 2EnrichmentLMNA1.53
258MeningiomaEnrichmentAKT11.53
259Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variantEnrichmentLMNA1.53
260Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variantEnrichmentLMNA1.53
261Melanocytic nevus syndrome, congenitalEnrichmentRAF11.52
262Cat eye syndromeEnrichmentACTG11.52
263Nemaline myopathyEnrichmentACTA11.52
264Acute promyelocytic leukemiaEnrichmentNUMA11.49
265Nk-cell enteropathyEnrichmentIGF1R1.49
26646,xy complete gonadal dysgenesisEnrichmentMAP3K11.47
267Coronary heart disease 5EnrichmentIKBKG1.47
268Arteriovenous malformationEnrichmentMAP2K11.47
269Multiple sclerosisEnrichmentTNFRSF1A1.46
270Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variantEnrichmentLMNA1.46
271Lip and oral cavity carcinomaEnrichmentRB11.44
272Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K11.42
273Ciliary dyskinesia, primary, 3EnrichmentNFKB11.42
274Early-onset parkinson's diseaseEnrichmentHTRA21.42
275Cataract 30, multiple typesEnrichmentVIM1.42
276Aplastic anemiaEnrichmentPRF11.42
277Ovarian cancerEnrichmentMAP3K1, RB11.41
278Arrhythmogenic right ventricular cardiomyopathyEnrichmentLMNA1.40
279Lung non-small cell carcinomaEnrichmentMAP2K11.38
280Cardiomyopathy, dilated, 1eEnrichmentLMNA1.38
281Lung cancer susceptibility 3EnrichmentRB11.37
28246,xy partial gonadal dysgenesisEnrichmentMAP3K11.37
283Congenital myopathy 4a, autosomal dominantEnrichmentACTA11.34
284EpicanthusEnrichmentTFAP2A1.34
285Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentLMNA1.33
286Cardiomyopathy, dilated, 1aEnrichmentLMNA1.29
287Hepatocellular carcinomaEnrichmentCASP81.27
288MicrocephalyEnrichmentACTB, ACTG11.26
289Congenital myopathyEnrichmentACTA11.24
290Muscular dystrophyEnrichmentLMNA1.23
291LissencephalyEnrichmentACTG11.20
292Brugada syndromeEnrichmentLMNA1.20
293Alzheimer disease, familial, 1EnrichmentAPP1.19
294Tooth agenesisEnrichmentSUMO11.16
295Severe covid-19EnrichmentCASP101.15
296Diffuse large b-cell lymphomaEnrichmentBTK1.15
297Jeune thoracic dystrophyEnrichmentSPTAN11.13
298Long qt syndromeEnrichmentLMNA1.13
299Williams-beuren syndromeEnrichmentLIMK11.12
300Peripheral nervous system diseaseEnrichmentLMNA1.11
301NeuropathyEnrichmentLMNA1.11
302Hydrops fetalis, nonimmuneEnrichmentACTA11.11
303MicrophthalmiaEnrichmentTFAP2A1.08
304Asphyxiating thoracic dystrophyEnrichmentSPTAN11.08
305Bladder cancerEnrichmentRB11.07
306Non-immune hydrops fetalisEnrichmentACTA11.04
307Systemic lupus erythematosusEnrichmentTNF1.03
308Short-rib thoracic dysplasia 1 with or without polydactylyEnrichmentSPTAN11.01
309CakutEnrichmentACTG11.00
310Gastric cancerEnrichmentCASP100.99
311Hereditary breast carcinomaEnrichmentAKT10.98
312Developmental and epileptic encephalopathyEnrichmentSPTAN10.98
313Non-syndromic genetic deafnessEnrichmentACTG10.98
314Hirschsprung disease 1EnrichmentSREBF10.97
315Fetal akinesia deformation sequence 1EnrichmentACTA10.96
316ThrombocytopeniaEnrichmentCYCS0.94
317MyopathyEnrichmentACTA10.93
318Familial hypertrophic cardiomyopathyEnrichmentRAF10.92
319Severe combined immunodeficiencyEnrichmentIKBKB0.92
320Benign epilepsy with centrotemporal spikesEnrichmentSPTAN10.92
321Distal arthrogryposisEnrichmentACTA10.91
322Hereditary spastic paraplegiaEnrichmentSPTAN10.91
323Nonsyndromic hearing lossEnrichmentACTG10.91
324Centralopathic epilepsyEnrichmentSPTAN10.90
325West syndromeEnrichmentSPTAN10.89
326Hereditary breast ovarian cancer syndromeEnrichmentRIPK10.89
327Autosomal recessive non-syndromic intellectual disabilityEnrichmentCRADD0.87
328Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentACTG10.83
329Spastic ataxiaEnrichmentSPTAN10.82
330HypertelorismEnrichmentTFAP2A0.73
331Undetermined early-onset epileptic encephalopathyEnrichmentLIMK10.71
332Rare genetic deafnessEnrichmentACTG10.66
333Inherited cancer-predisposing syndromeEnrichmentRB10.47
334Autism spectrum disorderEnrichmentMAP2K10.46
335Complex neurodevelopmental disorderEnrichmentMADD0.41

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