Signaling by ALK fusions and activated point mutants

Pathway network for the Signaling by ALK fusions and activated point mutants SuperPath

Sources:
  • Reactome

Pathways in the Signaling by ALK fusions and activated point mutants SuperPath

#NameSourceGenes
1Signaling by ALK fusions and activated point mutantsReactome
2Signaling by ALK in cancerReactome
3Nuclear events stimulated by ALK signaling in cancerReactome
4ALK mutants bind TKIsReactome

Gene overlap in member pathways for Signaling by ALK fusions and activated point mutants SuperPath

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

Disorders associated with Signaling by ALK fusions and activated point mutants SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Inflammatory myofibroblastic tumorEnrichmentALK, CARS1, CLTC, RANBP2, TPM3, TPM411.03
2Bladder cancerEnrichmentCDKN1A, PIK3CA, RB1, TP534.42
3Lymphomatoid papulosisEnrichmentNPM1, TYK24.36
4Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM1, TYK24.36
5Acute promyelocytic leukemiaEnrichmentNPM1, PRKAR1A4.25
6Lip and oral cavity carcinomaEnrichmentPIK3CA, RB1, TP534.23
7Glomerulopathy with fibronectin deposits 2EnrichmentATIC, FN13.89
8Osteogenic sarcomaEnrichmentRB1, TP533.89
9Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.89
10Squamous cell carcinomaEnrichmentRB1, TP533.89
11Bone osteosarcomaEnrichmentRB1, TP533.89
12Breast cancerEnrichmentJUN, KLC1, PIK3CA, SHC1, TP533.86
13Small cell cancer of the lungEnrichmentRB1, TP533.59
14Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA, PIK3R23.59
15Cerebrovascular diseaseEnrichmentPIK3CA, RNF2133.59
16Li-fraumeni syndromeEnrichmentMDM2, TP533.19
17Adrenocortical carcinomaEnrichmentPRKAR1A, TP533.19
18Il10-related early-onset inflammatory bowel diseaseEnrichmentIL10, IL10RA3.19
19Breast adenocarcinomaEnrichmentPIK3CA, TP533.19
20Lung squamous cell carcinomaEnrichmentALK, PIK3CA3.19
21Acrodysostosis 1 with or without hormone resistanceEnrichmentPRKAR1A3.05
22Fetal hemoglobin quantitative trait locus 5EnrichmentBCL11A3.05
23Carney complex, type 1EnrichmentPRKAR1A3.05
24Neuroblastoma 3EnrichmentALK3.05
25Myxoma, intracardiacEnrichmentPRKAR1A3.05
26Intellectual developmental disorder with persistence of fetal hemoglobinEnrichmentBCL11A3.05
27Bcl11a-related intellectual disabilityEnrichmentBCL11A3.05
28Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM13.05
29Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM13.05
30Alk-positive anaplastic large cell lymphomaEnrichmentALK3.05
31Alk-positive large b-cell lymphomaEnrichmentALK3.05
32Gallbladder cancerEnrichmentPIK3CA, TP533.05
33Differentiated thyroid carcinomaEnrichmentALK, TFG, TPR3.04
34Lymphoma, non-hodgkin, familialEnrichmentPRF1, TP532.93
35Adult hepatocellular carcinomaEnrichmentPIK3CA, TP532.82
36Spondyloepimetaphyseal dysplasia, strudwick typeEnrichmentFN12.75
37Amelogenesis imperfecta, type igEnrichmentPRKAR1A2.75
38Spondylometaphyseal dysplasia, corner fracture typeEnrichmentFN12.75
39Epiphyseal dysplasia, multiple, with early-onset diabetes mellitusEnrichmentEIF2AK32.75
40Pigmented nodular adrenocortical disease, primary, 1EnrichmentPRKAR1A2.75
41Usher syndrome, type ivEnrichmentPRKAR1A2.75
42AcrodysostosisEnrichmentPRKAR1A2.75
43Acute myeloid leukemia without maturationEnrichmentNPM12.75
44Isolated primary pigmented nodular adrenocortical diseaseEnrichmentPRKAR1A2.75
45Hemophagocytic lymphohistiocytosis, familial, 2EnrichmentPRF12.63
46Facial hypertrichosisEnrichmentMECP22.63
47Skin/hair/eye pigmentation, variation in, 8EnrichmentIRF42.63
48Noonan syndrome 13EnrichmentMAPK12.63
49Intellectual developmental disorder, x-linked, syndromic, lubs typeEnrichmentMECP22.63
50Immunodeficiency 131EnrichmentIRF42.63
51Autism x-linked 3EnrichmentMECP22.63
52Immunodeficiency 48EnrichmentZAP702.63
53T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.63
54Syndromic x-linked intellectual disability lubs typeEnrichmentMECP22.63
55Autoimmune disease, multisystem, infantile-onset, 2EnrichmentZAP702.63
56Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.63
57Trilateral retinoblastomaEnrichmentRB12.63
58Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.63
59Vegetative pyoderma gangrenosumEnrichmentPTPN62.63
60Bullous pyoderma gangrenosumEnrichmentPTPN62.63
61Pustular pyoderma gangrenosumEnrichmentPTPN62.63
62Whipple diseaseEnrichmentIRF42.63
63Classic pyoderma gangrenosumEnrichmentPTPN62.63
64Fatal post-viral neurodegenerative disorderEnrichmentPRF12.63
65Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.63
66Zap70-related severe combined immunodeficiencyEnrichmentZAP702.63
67Lung oat cell carcinomaEnrichmentRB12.63
68Menkes diseaseEnrichmentEIF2AK32.58
69Intellectual developmental disorder, autosomal dominant 56EnrichmentCLTC2.58
70Carney complex variantEnrichmentPRKAR1A2.45
71Arrhythmogenic right ventricular dysplasia, familial, 10EnrichmentPRKAR1A2.45
72Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1EnrichmentCLTC2.45
732p21 microdeletion syndromeEnrichmentPPM1B2.45
74Lung cancer susceptibility 3EnrichmentRB1, TP532.42
75Acute myeloid leukemia with maturationEnrichmentNPM12.35
76Hereditary persistence of fetal hemoglobin-sickle cell disease syndromeEnrichmentBCL11A2.35
77Ovarian cancerEnrichmentALK, PIK3CA, RB1, TP532.34
78Robinow-sorauf syndromeEnrichmentTWIST12.33
79Encephalopathy, neonatal severe, due to mecp2 mutationsEnrichmentMECP22.33
80Inflammatory bowel disease 28, autosomal recessiveEnrichmentIL10RA2.33
81Premature ovarian failure 3EnrichmentAGO22.33
82Chromosome 13q14 deletion syndromeEnrichmentRB12.33
83Sweeney-cox syndromeEnrichmentTWIST12.33
84Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizuresEnrichmentAGO12.33
85Intellectual developmental disorder, x-linked, syndromic 13EnrichmentMECP22.33
86Cerebellar ataxia, deafness, and narcolepsy, autosomal dominantEnrichmentDNMT12.33
87X-linked intellectual disability-psychosis-macroorchidism syndromeEnrichmentMECP22.33
88Inflammatory bowel disease 28EnrichmentIL10RA2.33
89Familial retinoblastomaEnrichmentRB12.33
90Non-syndromic sagittal craniosynostosisEnrichmentTWIST12.33
91Progressive bulbar palsyEnrichmentMECP22.33
92BruxismEnrichmentMECP22.33
93RhabdomyosarcomaEnrichmentALK, TP532.31
94Inherited cancer-predisposing syndromeEnrichmentALK, PRKAR1A2.24
95Noonan syndrome 3EnrichmentCLTC2.21
96Renal cell carcinoma with mit translocationsEnrichmentCLTC2.21
97MacrodactylyEnrichmentPIK3CA2.18
98Perry syndromeEnrichmentDCTN12.18
99Paget disease of bone 3EnrichmentSQSTM12.18
100Immunodeficiency 50EnrichmentMSN2.18
101Aica-ribosiduria due to atic deficiencyEnrichmentATIC2.18
102Immunodeficiency 35EnrichmentTYK22.18
103Deafness, autosomal dominant 17EnrichmentMYH92.18
104Megalencephaly, autosomal dominantEnrichmentPIK3CA2.18
105Congenital myopathy 4b, autosomal recessiveEnrichmentTPM32.18
106Cowden syndrome 5EnrichmentPIK3CA2.18
107Spastic paraplegia 57, autosomal recessiveEnrichmentTFG2.18
108Accelerated tumor formationEnrichmentMDM22.18
109Halperin-birk syndromeEnrichmentSEC31A2.18
110Cerebral cavernous malformations 4EnrichmentPIK3CA2.18
111Myopathy, distal, with rimmed vacuolesEnrichmentSQSTM12.18
112Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalitiesEnrichmentPPFIBP12.18
113Frontotemporal dementia and/or amyotrophic lateral sclerosis 3EnrichmentSQSTM12.18
114Bleeding disorder, platelet-type, 25EnrichmentTPM42.18
115Lessel-kubisch syndromeEnrichmentMDM22.18
116Short syndromeEnrichmentPIK3R12.18
117Bone marrow failure syndrome 5EnrichmentTP532.18
118Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG12.18
119Graft-versus-host diseaseEnrichmentIL102.18
120Papilloma of choroid plexusEnrichmentTP532.18
121Basal cell carcinoma 7EnrichmentTP532.18
122Anaplastic thyroid carcinomaEnrichmentTP532.18
123Cardiomyopathy, dilated, 1wEnrichmentVCL2.18
124Hemifacial myohyperplasiaEnrichmentPIK3CA2.18
125Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.18
126Neuronopathy, distal hereditary motor, autosomal dominant 14EnrichmentDCTN12.18
127Cardiomyopathy, familial hypertrophic, 15EnrichmentVCL2.18
128Immunodeficiency 31aEnrichmentSTAT12.18
129Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.18
130Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.18
131Immunodeficiency 31bEnrichmentSTAT12.18
132Ductal carcinoma in situEnrichmentTP532.18
133Intellectual developmental disorder, autosomal recessive 79EnrichmentTPR2.18
134Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.18
135Thyroid gland undifferentiated carcinomaEnrichmentTP532.18
136Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.18
137HypospadiasEnrichmentPIK3CA2.18
138Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.18
139Autosomal dominant nonsyndromic hearing loss 17EnrichmentMYH92.18
140Choroid plexus cancerEnrichmentTP532.18
141Rare venous malformationEnrichmentPIK3CA2.18
142Diaphragmatic eventrationEnrichmentPIK3CA2.18
143Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.18
144Pleomorphic xanthoastrocytomaEnrichmentTP532.18
145Rare combined vascular malformationEnrichmentPIK3CA2.18
146Cavernous lymphangiomaEnrichmentPIK3CA2.18
147Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.18
148Familial acute necrotizing encephalopathyEnrichmentRANBP22.18
149Autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutationEnrichmentTFG2.18
150Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.18
151Eccrine angiomatous hamartomaEnrichmentPIK3CA2.18
152Congenital generalized hypercontractile muscle stiffness syndromeEnrichmentTPM32.18
153Macrodactyly of toeEnrichmentPIK3CA2.18
154Diffuse large b-cell lymphomaEnrichmentSTAT3, TP532.16
155Melanocytic nevus syndrome, congenitalEnrichmentALK2.15
156NeuroblastomaEnrichmentALK2.15
157Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT32.15
158Craniosynostosis 1EnrichmentTWIST12.15
159LaryngomalaciaEnrichmentMECP22.15
160RetinoblastomaEnrichmentRB12.15
161Neutrophilic dermatosis, acute febrileEnrichmentPTPN62.15
162Woolly hair, autosomal recessive 3EnrichmentRB12.15
163Neuropathy, hereditary sensory, type ieEnrichmentDNMT12.15
164Hypotrichosis 8EnrichmentRB12.15
165Breast implant-associated anaplastic large cell lymphomaEnrichmentSTAT32.15
166Hyper ige syndromeEnrichmentSTAT32.15
167Lessel-kreienkamp syndromeEnrichmentAGO22.15
168Hepatocellular carcinomaEnrichmentPIK3CA, TP532.04
169Attention deficit-hyperactivity disorderEnrichmentKIF5B, MECP22.04
170Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK12.03
171Saethre-chotzen syndromeEnrichmentTWIST12.03
172Immunodeficiency, common variable, 1EnrichmentICOS2.03
173Lynch syndrome 4EnrichmentRB12.03
174Sick sinus syndromeEnrichmentMECP22.03
175Non-syndromic bicoronal craniosynostosisEnrichmentTWIST12.03
176Hemophagocytic lymphohistiocytosis, familial, 1EnrichmentPRF11.93
177Idiopathic aplastic anemiaEnrichmentPRF11.93
178Polydactyly, postaxial, type a1EnrichmentBCL11A1.88
179Corpus callosum, agenesis ofEnrichmentBCL11A1.88
180Isolated corpus callosum agenesisEnrichmentBCL11A1.88
181Intellectual disability-hypoplastic corpus callosum-preauricular tag syndromeEnrichmentBCL11A1.88
182Adrenocortical carcinoma, hereditaryEnrichmentTP531.88
183Camptodactyly-arthropathy-coxa vara-pericarditis syndromeEnrichmentTPR1.88
184Cataract 35EnrichmentMYH91.88
185Cervical cancerEnrichmentTP531.88
186Welander distal myopathyEnrichmentSQSTM11.88
187Keratosis, seborrheicEnrichmentPIK3CA1.88
188Melanoma, cutaneous malignant 6EnrichmentKLC11.88
189Noonan syndrome 8EnrichmentPIK3CA1.88
190Lymphoma, hodgkin, classicEnrichmentTP531.88
191Immunodeficiency 31cEnrichmentSTAT11.88
192Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetEnrichmentSQSTM11.88
193Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.88
194Congenital fibrosarcomaEnrichmentTP531.88
195Li-fraumeni syndrome 1EnrichmentTP531.88
196SarcomaEnrichmentTP531.88
197Pseudosarcomatous fibromatosisEnrichmentMYH91.88
198Cervix carcinomaEnrichmentTP531.88
199Hodgkin's lymphomaEnrichmentTP531.88
200Paget's disease of boneEnrichmentSQSTM11.88
201Distal hereditary motor neuropathy type 7EnrichmentDCTN11.88
202Skeletal muscle diseaseEnrichmentKIF5B1.88
203Acute necrotizing encephalopathy of childhoodEnrichmentRANBP21.88
204Pleomorphic rhabdomyosarcomaEnrichmentTP531.88
205Submucosal cleft palateEnrichmentUBB1.88
206Cleft hard palateEnrichmentUBB1.88
207Spastic paraplegia-paget disease of bone syndromeEnrichmentSQSTM11.88
208Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delayEnrichmentBCL11A1.85
209Angelman syndromeEnrichmentMECP21.85
210Prostate cancerEnrichmentPIK3CA, TP531.80
211Rett syndromeEnrichmentMECP21.79
212Hereditary sensory and autonomic neuropathy type 1EnrichmentDNMT11.79
213Focal epilepsyEnrichmentMECP21.79
214Dyskeratosis congenitaEnrichmentNPM11.78
215Rett syndrome, congenital variantEnrichmentMECP21.73
216Permanent neonatal diabetes mellitusEnrichmentSTAT31.73
217Lung cancerEnrichmentALK, PIK3CA1.72
218Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossEnrichmentMYH91.70
219Pompe disease, infantile-onsetEnrichmentPIK3CA1.70
220Uvula, bifidEnrichmentUBB1.70
221Cleft soft palateEnrichmentUBB1.70
222Nasopharyngeal carcinomaEnrichmentTP531.70
223Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.70
224Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.70
225Microcephaly, developmental delay, and brittle hair syndromeEnrichmentCARS11.70
226Dedifferentiated liposarcomaEnrichmentMDM21.70
227Atypical teratoid rhabdoid tumorEnrichmentTP531.70
228Anaplastic astrocytomaEnrichmentTP531.70
229Immunodeficiency 14EnrichmentPIK3R11.70
230Moyamoya disease 2EnrichmentRNF2131.70
231AdenocarcinomaEnrichmentTP531.70
232Cap myopathyEnrichmentTPM31.70
233Well-differentiated liposarcomaEnrichmentMDM21.70
234KeratoacanthomaEnrichmentPIK3CA1.70
235Colorectal cancerEnrichmentPIK3CA, PIK3R1, TP531.70
236Aplastic anemiaEnrichmentPRF11.63
237Combined immunodeficiencyEnrichmentZAP701.59
238Combined t cell and b cell immunodeficiencyEnrichmentZAP701.59
239Specific learning disabilityEnrichmentMAPK11.59
240Combined t and b cell immunodeficiencyEnrichmentZAP701.59
241Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessiveEnrichmentRANBP21.58
242Thyroid cancer, nonmedullary, 1EnrichmentTP531.58
243Paget disease of bone 2, early-onsetEnrichmentSQSTM11.58
244Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.58
245Lung sarcomatoid carcinomaEnrichmentTP531.58
246Ectodermal dysplasiaEnrichmentRANBP21.58
247Embryonal rhabdomyosarcomaEnrichmentTP531.58
248Familial cerebral cavernous malformationsEnrichmentPIK3CA1.58
249Paget's disease of bone 2EnrichmentSQSTM11.58
250Intermediate nemaline myopathyEnrichmentTPM31.58
251Middle aortic syndromeEnrichmentRNF2131.58
252Systemic lupus erythematosusEnrichmentIL10, MECP21.56
253Leukemia, acute myeloidEnrichmentNPM1, TP531.54
254Charcot-marie-tooth diseaseEnrichmentDCTN1, TFG1.52
255Stereotypic movement disorderEnrichmentMECP21.52
256Pituitary stalk interruption syndromeEnrichmentDNMT11.49
257Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominantEnrichmentRANBP21.48
258Capillary malformations, congenitalEnrichmentPIK3CA1.48
259Kearns-sayre syndromeEnrichmentKIF5B1.48
260Rhabdomyosarcoma 2EnrichmentTP531.48
261Deafness, autosomal recessive 63EnrichmentMYH91.48
262Chondrosarcoma, extraskeletal myxoidEnrichmentTFG1.48
263LymphomaEnrichmentTP531.48
264HemangiomaEnrichmentRNF2131.48
265Acute megakaryocytic leukemiaEnrichmentTP531.48
266Autosomal recessive hypohidrotic ectodermal dysplasia syndromeEnrichmentRANBP21.48
267HemimegalencephalyEnrichmentPIK3CA1.48
268Genetic motor neuron diseaseEnrichmentDCTN11.48
269Gastric cancerEnrichmentPIK3CA, TP531.48
270Nephrotic syndromeEnrichmentATIC, FN11.48
271MicrocephalyEnrichmentMAPK1, MECP21.47
272Complex neurodevelopmental disorderEnrichmentAGO1, AGO21.46
273Hereditary breast carcinomaEnrichmentPIK3CA, TP531.46
274Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.41
275Cowden syndrome 1EnrichmentPIK3CA1.41
276Hemihyperplasia, isolatedEnrichmentPIK3CA1.41
277Moyamoya disease 1EnrichmentRNF2131.41
278Hemangioma, capillary infantileEnrichmentMYH91.41
279Inguinal herniaEnrichmentRNF2131.41
280Chronic mucocutaneous candidiasisEnrichmentSTAT11.41
281Heart, malformation ofEnrichmentMAPK11.38
282Autosomal dominant non-syndromic intellectual disabilityEnrichmentCLTC1.36
283Esophageal cancerEnrichmentTP531.34
284Nevus, epidermalEnrichmentPIK3CA1.34
285Multiple endocrine neoplasia, type iEnrichmentCDKN1A1.34
286Mitochondrial dna depletion syndrome 4aEnrichmentRANBP21.34
287Squamous cell carcinoma, head and neckEnrichmentTP531.34
288Capillary malformation-arteriovenous malformation 1EnrichmentPIK3CA1.34
289Essential thrombocythemiaEnrichmentTP531.34
290Childhood-onset nemaline myopathyEnrichmentTPM31.34
291Overgrowth syndromeEnrichmentPIK3R11.34
292Moyamoya angiopathyEnrichmentRNF2131.34
293B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.34
294Undetermined early-onset epileptic encephalopathyEnrichmentCLTC1.31
295SchizophreniaEnrichmentBIRC61.29
296Glioma susceptibility 1EnrichmentTP531.29
297Mitochondrial dna depletion syndrome 4bEnrichmentRANBP21.29
298Myeloma, multipleEnrichmentPIK3R2, TP531.27
299Autoinflammatory diseaseEnrichmentPRF11.26
300Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentDCTN1, SQSTM11.25
301Rheumatoid arthritisEnrichmentIL101.24
302Arteriovenous malformationEnrichmentPIK3CA1.24
303Primary hyperaldosteronismEnrichmentTP531.24
304Cowden syndromeEnrichmentPIK3CA1.24
305Behavioral variant of frontotemporal dementiaEnrichmentSQSTM11.24
306TrichothiodystrophyEnrichmentCARS11.24
307Amyotrophic lateral sclerosis 1EnrichmentDCTN11.19
308Leukemia, chronic lymphocyticEnrichmentTP531.19
309Frontotemporal dementia and/or amyotrophic lateral sclerosis 1EnrichmentSQSTM11.19
310Myopathy, x-linked, with excessive autophagyEnrichmentPIK3CA1.19
311NephrocalcinosisEnrichmentRNF2131.19
312Nemaline myopathyEnrichmentTPM31.19
313Autosomal dominant macrothrombocytopeniaEnrichmentTPM41.19
314Familial colorectal cancerEnrichmentTP531.19
315Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.19
316Frontotemporal dementia 1EnrichmentDCTN11.15
317Myelodysplastic syndromeEnrichmentTP531.15
318Lung non-small cell carcinomaEnrichmentPIK3CA1.15
319Severe combined immunodeficiencyEnrichmentZAP701.12
320MeningiomaEnrichmentPIK3CA1.11
321DystoniaEnrichmentMECP21.10
322Non-syndromic x-linked intellectual disabilityEnrichmentMECP21.09
323Nk-cell enteropathyEnrichmentPIK3CB1.08
324EpilepsyEnrichmentMECP21.04
325Congenital myopathy 4a, autosomal dominantEnrichmentTPM31.02
326Lynch syndromeEnrichmentPIK3CA1.02
327Dilated cardiomyopathyEnrichmentKIF5B, VCL1.01
328HypertensionEnrichmentMYH91.00
329GliosarcomaEnrichmentTP531.00
330Giant cell glioblastomaEnrichmentTP530.97
331Human immunodeficiency virus type 1EnrichmentIL100.95
332Spastic ataxiaEnrichmentDNMT10.93
333Behcet syndromeEnrichmentIL100.92
334Neuropathy, hereditary motor and sensory, okinawa typeEnrichmentTFG0.92
335Endometrial cancerEnrichmentPIK3CA0.88
336Centronuclear myopathyEnrichmentTPM30.88
337HepatoblastomaEnrichmentTP530.88
338Tooth agenesisEnrichmentRANBP20.87
339Diamond-blackfan anemia 1EnrichmentTP530.85
340Pancreatic cancerEnrichmentTP530.81
341AutismEnrichmentMECP20.80
342Diamond-blackfan anemiaEnrichmentTP530.67
343Congenital nervous system abnormalityEnrichmentMECP20.65
344Nervous system diseaseEnrichmentMECP20.65
345Autism spectrum disorderEnrichmentMECP20.64
346MyopathyEnrichmentTPM30.63
347Type 2 diabetes mellitusEnrichmentIRS10.61
348Hypertrophic cardiomyopathyEnrichmentKIF5B0.60
349ThrombocytopeniaEnrichmentMYH90.56
350Body mass index quantitative trait locus 11EnrichmentMYH90.55
351HypertelorismEnrichmentPIK3CA0.53
352Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentMYH90.53
353Familial isolated dilated cardiomyopathyEnrichmentVCL0.53
354Hereditary breast ovarian cancer syndromeEnrichmentTP530.51
355Autosomal recessive non-syndromic intellectual disabilityEnrichmentTPR0.49
356Deafness, autosomal recessiveEnrichmentMYH90.46
357Autosomal recessive nonsyndromic deafnessEnrichmentMYH90.46
358Rare genetic deafnessEnrichmentMYH90.39
359Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentMYH90.35

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