Apoptosis and survival NGF signaling pathway

Pathway network for the Apoptosis and survival NGF signaling pathway SuperPath

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

Pathways in the Apoptosis and survival NGF signaling pathway SuperPath

#NameSourceGenes
1Apoptosis and survival NGF signaling pathwayGeneGo (Thomson Reuters)
2Development HGF signaling pathwayGeneGo (Thomson Reuters)
3Development Neurotrophin family signalingGeneGo (Thomson Reuters)
4Apoptosis and survival Role of CDK5 in neuronal death and survivalGeneGo (Thomson Reuters)
5Hepatocyte growth factor receptor signalingWikiPathways
6Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1GeneGo (Thomson Reuters)
7Trk receptor signaling mediated by PI3K and PLC-gammaPubChem
8MET activates PTPN11Reactome
9PLC-gamma1 signallingReactome
10MET activates STAT3Reactome
11TRKA activation by NGFReactome
12Drug-mediated inhibition of MET activationReactome
13NFG and proNGF binds to p75NTRReactome

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

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentBRAF, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS216.00
2Noonan syndrome and noonan-related syndromeEnrichmentBRAF, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS111.21
3Noonan syndrome 1EnrichmentBRAF, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS210.67
4Noonan syndrome 3EnrichmentHRAS, PTPN11, RAF1, SOS18.93
5Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA, RASA18.38
6Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA, RASA18.17
7Bladder cancerEnrichmentERBB2, ERBB3, HRAS, PIK3CA, TP537.83
8Lung non-small cell carcinomaEnrichmentERBB2, HRAS, MAP2K1, PIK3CA7.77
9Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R27.60
10Lip and oral cavity carcinomaEnrichmentBRAF, HRAS, PIK3CA, TP537.21
11Colorectal cancerEnrichmentAKT1, BAX, ERBB2, PIK3CA, PIK3R1, TP536.86
12Cardiofaciocutaneous syndrome 1EnrichmentBRAF, MAP2K1, MAP2K26.81
13Cardiofaciocutaneous syndromeEnrichmentBRAF, MAP2K1, MAP2K26.81
14Noonan syndrome with multiple lentiginesEnrichmentBRAF, PTPN11, RAF16.81
15Neuropathy, hereditary sensory and autonomic, type vEnrichmentNGF, NTRK16.64
16Breast adenocarcinomaEnrichmentAKT1, PIK3CA, TP536.39
17Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K1, PIK3CA, RASA16.30
18Gallbladder cancerEnrichmentBRAF, PIK3CA, TP535.87
19Pilomyxoid astrocytomaEnrichmentBRAF, NTRK2, RAF15.87
20Breast cancerEnrichmentAKT1, JUN, PIK3CA, SHC1, TP535.71
21Ovarian cancerEnrichmentAKT1, CDH1, CTNNB1, MAP3K1, MET, PIK3CA5.70
22Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, RAF15.67
23Differentiated thyroid carcinomaEnrichmentBRAF, HRAS, NTRK1, NTRK35.55
24Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.98
25Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.98
26Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.98
27Pulmonic stenosisEnrichmentBRAF, SOS14.93
28Childhood hepatocellular carcinomaEnrichmentCTNNB1, MET4.86
29Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R24.67
30Langerhans cell histiocytosisEnrichmentBRAF, MAP2K14.45
31HemimegalencephalyEnrichmentAKT3, PIK3CA4.45
32Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL, MAPK14.44
33Rare autosomal recessive non-syndromic sensorineural deafness type dfnbEnrichmentHGF, MET4.37
34Capillary malformations, congenitalEnrichmentPIK3CA, RASA14.22
35Thyroid cancer, nonmedullary, 1EnrichmentBRAF, TP534.15
36Hepatocellular carcinomaEnrichmentCTNNB1, MET, PIK3CA4.13
37Nevus, epidermalEnrichmentHRAS, PIK3CA4.13
38Klippel-trenaunay-weber syndromeEnrichmentPIK3CA, RASA14.04
39Cowden syndrome 1EnrichmentPIK3CA, PTEN4.04
40LymphomaEnrichmentPTPN11, TP533.93
41Cowden syndromeEnrichmentAKT1, PIK3CA3.90
42Thyroid cancer, nonmedullary, 2EnrichmentHRAS, PTEN3.90
43Follicular thyroid carcinomaEnrichmentHRAS, PTEN3.90
44Deafness, autosomal recessive 39EnrichmentHGF3.83
45Osteofibrous dysplasiaEnrichmentMET3.83
46Deafness, autosomal recessive 97EnrichmentMET3.83
47Autism 9EnrichmentMET3.83
48Arthrogryposis, distal, type 11EnrichmentMET3.83
49Hereditary breast carcinomaEnrichmentAKT1, ESR1, PIK3CA3.83
50Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R13.80
51Glioma susceptibility 1EnrichmentERBB2, TP533.67
52Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG13.66
53T-cell large granular lymphocyte leukemiaEnrichmentSTAT33.66
54Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT33.66
55Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT33.66
56Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT33.66
57Lung cancerEnrichmentFAS, MET, PIK3CA3.64
58MeningiomaEnrichmentAKT1, PIK3CA3.64
59Gastric cancerEnrichmentERBB2, PIK3CA, TP533.64
60Adult hepatocellular carcinomaEnrichmentPIK3CA, TP533.57
61Insensitivity to pain, congenital, with anhidrosisEnrichmentNTRK13.53
62Pain sensitivity quantitative trait locus 1EnrichmentNTRK13.53
63Papillary renal cell carcinomaEnrichmentMET3.53
64Lymphoma, non-hodgkin, familialEnrichmentBRAF, TP533.49
65Specific learning disabilityEnrichmentMAPK1, PTPN113.48
66MetachondromatosisEnrichmentPTPN113.43
67Deafness, autosomal recessive 26EnrichmentGAB13.43
68Leopard syndrome 1EnrichmentPTPN113.43
69Malignant astrocytomaEnrichmentPTPN113.43
70Primary hyperaldosteronismEnrichmentBRAF, TP533.38
71Thyroid carcinoma, familial medullaryEnrichmentNTRK13.35
72Renal cell carcinomaEnrichmentMET3.35
73Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT33.18
74Breast implant-associated anaplastic large cell lymphomaEnrichmentSTAT33.18
75Hyper ige syndromeEnrichmentSTAT33.18
76Lung cancer susceptibility 3EnrichmentERBB2, TP533.17
77RhabdomyosarcomaEnrichmentHRAS, PTEN3.15
78Werner syndromeEnrichmentPTPN113.13
79Inherited cancer-predisposing syndromeEnrichmentMET, PTPN113.04
80Myeloma, multipleEnrichmentBRAF, PIK3R2, TP533.02
81Diffuse large b-cell lymphomaEnrichmentPTEN, STAT32.99
82Renal cell carcinoma, papillary, 1EnrichmentMET2.99
8346,xy partial gonadal dysgenesisEnrichmentMAP3K1, SOS12.98
84Tricuspid valve insufficiencyEnrichmentPTPN112.96
85Arthrogryposis, distal, type 1aEnrichmentMET2.93
86Endometrial cancerEnrichmentPIK3CA, PTEN2.91
87Cardiomyopathy, familial hypertrophic, 1EnrichmentCACNA1C, RAF12.84
88Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentPTPN112.83
89Permanent neonatal diabetes mellitusEnrichmentSTAT32.75
90Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN112.72
91MacrodactylyEnrichmentPIK3CA2.72
92Proteus syndromeEnrichmentAKT12.72
93Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.72
94Noonan syndrome 4EnrichmentSOS12.72
95Megalencephaly, autosomal dominantEnrichmentPIK3CA2.72
96Cowden syndrome 5EnrichmentPIK3CA2.72
97Chromosome 20q11-q12 deletion syndromeEnrichmentEPB41L12.72
98Noonan syndrome 9EnrichmentSOS22.72
99Cerebral cavernous malformations 4EnrichmentPIK3CA2.72
100Short syndromeEnrichmentPIK3R12.72
101Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.72
102Hemifacial myohyperplasiaEnrichmentPIK3CA2.72
103Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.72
104Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.72
105Cowden syndrome 6EnrichmentAKT12.72
106Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.72
107Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.72
108Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.72
109HypospadiasEnrichmentPIK3CA2.72
110Capillary hemangiomaEnrichmentAKT32.72
111Acute myeloid leukemia with multilineage dysplasiaEnrichmentNPM12.72
112Rare venous malformationEnrichmentPIK3CA2.72
113Acute myeloid leukemia with npm1 somatic mutationsEnrichmentNPM12.72
114Diaphragmatic eventrationEnrichmentPIK3CA2.72
115Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.72
116Rare combined vascular malformationEnrichmentPIK3CA2.72
117Cavernous lymphangiomaEnrichmentPIK3CA2.72
118Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.72
119Phakomatosis pigmentokeratoticaEnrichmentHRAS2.72
120Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.72
121Eccrine angiomatous hamartomaEnrichmentPIK3CA2.72
122Macrodactyly of toeEnrichmentPIK3CA2.72
123Akt2-related familial partial lipodystrophyEnrichmentAKT22.72
124Spinocerebellar ataxia 41EnrichmentTRPC32.70
125Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.70
126Intellectual developmental disorder, autosomal recessive 63EnrichmentCAMK2A2.70
127Thrombocytopenia 6EnrichmentSRC2.70
128Intellectual developmental disorder, autosomal dominant 53EnrichmentCAMK2A2.70
129Patent ductus arteriosusEnrichmentPTPN112.66
130Renal cell carcinoma, nonpapillaryEnrichmentMET2.66
131Noonan syndrome 5EnrichmentRAF12.63
132Melorheostosis, isolatedEnrichmentMAP2K12.63
133Cardiomyopathy, dilated, 1nnEnrichmentRAF12.63
134Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.63
135Noonan syndrome 13EnrichmentMAPK12.63
136Brugada syndrome 3EnrichmentCACNA1C2.63
137Thrombocytopenia 4EnrichmentCYCS2.63
138MelorheostosisEnrichmentMAP2K12.63
139Leopard syndrome 2EnrichmentRAF12.63
140Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.63
141TrigonitisEnrichmentRAF12.63
142Atypical timothy syndromeEnrichmentCACNA1C2.63
143Timothy syndrome type 2EnrichmentCACNA1C2.63
144Timothy syndrome type 1EnrichmentCACNA1C2.63
145Cacna1c-related disordersEnrichmentCACNA1C2.63
146Peripheral nervous system diseaseEnrichmentNGF2.63
147NeuropathyEnrichmentNGF2.63
148Prostate cancerEnrichmentPIK3CA, PTEN2.62
149Cystic angiomatosis of bone, diffuseEnrichmentRASA12.60
150Vacterl association with hydrocephalusEnrichmentPTEN2.60
151Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.60
152Papillary tumor of the pineal regionEnrichmentPTEN2.60
153Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic faciesEnrichmentRAP1B2.60
154Glioma susceptibility 2EnrichmentPTEN2.60
155Gorham's diseaseEnrichmentRASA12.60
156Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.60
157Temporomandibular joint anomalyEnrichmentDOCK12.60
158Autism spectrum disorderEnrichmentMAP2K1, PTEN, PTPN112.60
159Non-immune hydrops fetalisEnrichmentHRAS, PTPN112.57
160Erythroleukemia, familialEnrichmentERBB32.55
161Paget disease, extramammaryEnrichmentERBB22.55
162Lethal congenital contracture syndrome 2EnrichmentERBB32.55
163Lissencephaly 7 with cerebellar hypoplasiaEnrichmentCDK52.55
164Visceral neuropathy, familial, 2, autosomal recessiveEnrichmentERBB22.55
165Bone marrow failure syndrome 5EnrichmentTP532.55
166Papilloma of choroid plexusEnrichmentTP532.55
167Basal cell carcinoma 7EnrichmentTP532.55
168Anaplastic thyroid carcinomaEnrichmentTP532.55
169Ductal carcinoma in situEnrichmentTP532.55
170Thyroid gland undifferentiated carcinomaEnrichmentTP532.55
171Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.55
172Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.55
173Choroid plexus cancerEnrichmentTP532.55
174Pleomorphic xanthoastrocytomaEnrichmentTP532.55
175Serous carcinoma of the corpus uteriEnrichmentERBB22.55
176Acute promyelocytic leukemiaEnrichmentSTAT32.54
177Hirschsprung disease 1EnrichmentERBB2, ERBB32.53
178Lymphoproliferative syndrome, x-linked, 2EnrichmentXIAP2.46
179Noonan syndrome 7EnrichmentBRAF2.46
180Leopard syndrome 3EnrichmentBRAF2.46
181Low density lipoprotein cholesterol level quantitative trait locus 6EnrichmentSORT12.46
18246,xy sex reversal 6EnrichmentMAP3K12.46
183Developmental and epileptic encephalopathy 58EnrichmentNTRK22.46
184LymphangiomaEnrichmentBRAF2.46
185Phace associationEnrichmentBRAF2.46
186Glaucoma 1, open angle, oEnrichmentNTF42.46
187Obesity, hyperphagia, and developmental delayEnrichmentNTRK22.46
188Syringocystadenoma papilliferumEnrichmentBRAF2.46
189GangliogliomaEnrichmentBRAF2.46
190Nongerminomatous germ cell tumorEnrichmentBRAF2.46
191Phace syndromeEnrichmentBRAF2.46
192Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.46
193Classic hairy cell leukemiaEnrichmentBRAF2.46
194Severe early-onset obesity-insulin resistance syndrome due to sh2b1 deficiencyEnrichmentSH2B12.46
195Immunodeficiency 40EnrichmentDOCK22.42
196Adenoid ameloblastomaEnrichmentCTNNB12.42
197Breast lobular carcinomaEnrichmentCDH12.42
198Microcystic stromal tumorEnrichmentCTNNB12.42
199Fibromatosis, gingival, 1EnrichmentSOS12.42
200Costello syndromeEnrichmentHRAS2.42
201Keratosis, seborrheicEnrichmentPIK3CA2.42
202Roifman-chitayat syndromeEnrichmentPIK3CD2.42
203Noonan syndrome 8EnrichmentPIK3CA2.42
204Senior-loken syndrome 7EnrichmentAKT32.42
205Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.42
206Immune system diseaseEnrichmentPIK3CD2.42
207Bardet-biedl syndrome 16EnrichmentAKT32.42
208Acute myeloid leukemia without maturationEnrichmentNPM12.42
209Lymphomatoid papulosisEnrichmentNPM12.42
210Primary cutaneous anaplastic large cell lymphomaEnrichmentNPM12.42
211Wooly hair nevusEnrichmentHRAS2.42
212Histiocytoma, angiomatoid fibrousEnrichmentCREB12.40
213Pectus excavatumEnrichmentPTPN112.39
214Autosomal dominant non-syndromic intellectual disabilityEnrichmentCAMK2A, EPB41L12.36
215EpicanthusEnrichmentPTPN112.35
216Juvenile myelomonocytic leukemiaEnrichmentPTPN112.35
217Congenital long qt syndromeEnrichmentPTPN112.35
218Timothy syndromeEnrichmentCACNA1C2.33
219Long qt syndrome 8EnrichmentCACNA1C2.33
220Intravascular large b-cell lymphomaEnrichmentBCL22.33
221Tafro syndromeEnrichmentMAP2K22.33
222Vacterl with hydrocephalusEnrichmentPTEN2.30
223Juvenile polyposis of infancyEnrichmentPTEN2.30
224Adrenocortical carcinoma, hereditaryEnrichmentTP532.25
225Visceral neuropathy, familial, 1, autosomal recessiveEnrichmentERBB32.25
226Cervical cancerEnrichmentTP532.25
227Lymphoma, hodgkin, classicEnrichmentTP532.25
228Congenital fibrosarcomaEnrichmentTP532.25
229Li-fraumeni syndrome 1EnrichmentTP532.25
230SarcomaEnrichmentTP532.25
231Cervix carcinomaEnrichmentTP532.25
232Hodgkin's lymphomaEnrichmentTP532.25
233Pleomorphic rhabdomyosarcomaEnrichmentTP532.25
234ThrombocytopeniaEnrichmentCYCS, SRC2.25
235Pompe disease, infantile-onsetEnrichmentPIK3CA2.24
236Nuchal bleb, familialEnrichmentSOS12.24
237Large congenital melanocytic nevusEnrichmentHRAS2.24
238SpermatocytomaEnrichmentHRAS2.24
239KeratoacanthomaEnrichmentPIK3CA2.24
240Melanoma of soft tissueEnrichmentCREB12.22
241Patent foramen ovaleEnrichmentPTPN112.18
242Chromosome 16p11.2 deletion syndrome, 220-kbEnrichmentSH2B12.16
243Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.16
244Congenital mesoblastic nephromaEnrichmentNTRK32.16
245Chromosome 16p11.2 deletion syndrome, 593-kbEnrichmentSH2B12.16
246FibrosarcomaEnrichmentNTRK32.16
247Estrogen resistanceEnrichmentESR12.15
248Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizuresEnrichmentCACNA1C2.15
249High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL22.15
250T-cell acute lymphoblastic leukemiaEnrichmentBAX2.15
251Migraine without auraEnrichmentESR12.15
252Sensorineural hearing lossEnrichmentHGF2.15
253Wieacker-wolff syndromeEnrichmentRASA12.12
254Laryngeal squamous cell carcinomaEnrichmentPTEN2.12
255Blepharocheilodontic syndrome 1EnrichmentCDH12.12
256Osteopathia striata with cranial sclerosisEnrichmentCTNNB12.12
257Quebec platelet disorderEnrichmentPLAU2.12
258Juvenile nasopharyngeal angiofibromaEnrichmentCTNNB12.12
259TeratomaEnrichmentCTNNB12.12
260Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS2.12
261Cerebrovascular diseaseEnrichmentPIK3CA2.12
262Epidermolytic nevusEnrichmentHRAS2.12
263Familial cerebral cavernous malformationsEnrichmentPIK3CA2.12
264Gingival fibromatosisEnrichmentSOS12.12
265Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS22.12
266Mantle cell lymphomaEnrichmentCCND12.10
267Osteogenic sarcomaEnrichmentTP532.08
268Nasopharyngeal carcinomaEnrichmentTP532.08
269Atypical teratoid rhabdoid tumorEnrichmentTP532.08
270Anaplastic astrocytomaEnrichmentTP532.08
271Squamous cell carcinomaEnrichmentTP532.08
272AdenocarcinomaEnrichmentTP532.08
273Bone osteosarcomaEnrichmentTP532.08
274Primary ovarian insufficiencyEnrichmentNTRK12.06
275ScoliosisEnrichmentPTPN112.05
276Neurofibromatosis-noonan syndromeEnrichmentMAP2K22.03
277Ventricular fibrillation, paroxysmal familial, 1EnrichmentCACNA1C2.03
278Arthrogryposis multiplex congenita 3, myogenic typeEnrichmentESR12.03
279Acute myeloid leukemia with maturationEnrichmentNPM12.02
280Von hippel-lindau syndromeEnrichmentCCND12.00
281StrabismusEnrichmentPTPN112.00
282Congenital generalized lipodystrophyEnrichmentFOS2.00
283GliomaEnrichmentPTEN2.00
284Ataxia-telangiectasiaEnrichmentBRAF1.98
285Tethered spinal cord syndromeEnrichmentBRAF1.98
286Type 2 diabetes mellitusEnrichmentAKT2, TCF7L21.96
287Long qt syndrome 1EnrichmentPTPN111.96
288Small cell cancer of the lungEnrichmentTP531.95
289Barrett esophagusEnrichmentERBB21.95
290Lung sarcomatoid carcinomaEnrichmentTP531.95
291Embryonal rhabdomyosarcomaEnrichmentTP531.95
292Desmoid disease, hereditaryEnrichmentCTNNB11.95
293Neurodevelopmental disorder with spastic diplegia and visual defectsEnrichmentCTNNB11.95
294Anus, imperforateEnrichmentCTNNB11.95
295Exudative vitreoretinopathy 7EnrichmentCTNNB11.95
296Desmoid tumorEnrichmentCTNNB11.95
297Vogt-koyanagi-harada diseaseEnrichmentFAS1.95
298Hemihyperplasia, isolatedEnrichmentPIK3CA1.94
299Lung squamous cell carcinomaEnrichmentPIK3CA1.94
300Alzheimer disease 2EnrichmentNOS31.93
301Pre-eclampsiaEnrichmentNOS31.93
302Follicular lymphomaEnrichmentBCL21.93
303Heart conduction diseaseEnrichmentCACNA1C1.93
304Autosomal thrombocytopenia with normal plateletsEnrichmentCYCS1.93
305Macrocephaly/autism syndromeEnrichmentPTEN1.90
306HemangiomaEnrichmentPTEN1.90
307Histiocytoid hemangiomaEnrichmentFOS1.90
308Acute megakaryocytic leukemiaEnrichmentPTEN1.90
309MegacolonEnrichmentAKT31.87
310Overgrowth syndromeEnrichmentPIK3R11.87
311Lymphoproliferative syndrome 2EnrichmentXIAP1.86
312CraniopharyngiomaEnrichmentBRAF1.86
313Newborn respiratory distress syndromeEnrichmentBRAF1.86
314MyelofibrosisEnrichmentSRC1.86
315Rhabdomyosarcoma 2EnrichmentTP531.86
316Telangiectasia, hereditary hemorrhagic, type 1EnrichmentRASA11.83
317Hemangioma, capillary infantileEnrichmentRASA11.83
318Basal cell carcinoma 1EnrichmentRASA11.83
319Diffuse gastric and lobular breast cancer syndromeEnrichmentCDH11.83
320Autoimmune lymphoproliferative syndromeEnrichmentFAS1.83
321PilomatrixomaEnrichmentCTNNB11.83
322Alazami syndromeEnrichmentCTNNB11.83
323Hypertrophic cardiomyopathyEnrichmentPTPN111.80
324Li-fraumeni syndromeEnrichmentTP531.78
325Adrenocortical carcinomaEnrichmentTP531.78
326Squamous cell carcinoma, head and neckEnrichmentPTEN1.76
327Hereditary hemorrhagic telangiectasiaEnrichmentRASA11.76
328Exudative vitreoretinopathy 1EnrichmentCTNNB11.73
329Lennox-gastaut syndromeEnrichmentMAPK101.73
330PolymicrogyriaEnrichmentAKT31.72
331Esophageal cancerEnrichmentTP531.71
332Essential thrombocythemiaEnrichmentTP531.71
333B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentTP531.71
334Leukemia, chronic lymphocyticEnrichmentCCND11.70
335Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN111.69
336Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndromeEnrichmentBDNF1.69
337Wilms tumor 5EnrichmentBRAF1.69
338Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentCACNA1C1.68
339Weyers acrofacial dysostosisEnrichmentCTNNB11.65
340Cleft lip with or without cleft palateEnrichmentCDH11.65
341Stroke, ischemicEnrichmentNOS31.63
342Aortic valve disease 1EnrichmentSOS11.61
343Nk-cell enteropathyEnrichmentPIK3CB1.61
344MelanomaEnrichmentPTEN1.61
345Migraine with or without aura 1EnrichmentESR11.59
346Meningioma, familialEnrichmentPTEN1.56
347Uterine corpus cancerEnrichmentPTEN1.56
348OsteoporosisEnrichmentSRC1.56
349Familial colorectal cancerEnrichmentTP531.56
350Cardiac conduction defectEnrichmentCACNA1C1.55
351Lynch syndromeEnrichmentPIK3CA1.55
352Exudative vitreoretinopathyEnrichmentCTNNB11.53
353Myelodysplastic syndromeEnrichmentTP531.52
354Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.51
355Congenital central hypoventilation syndromeEnrichmentBDNF1.51
356Ventricular septal defectEnrichmentBRAF1.51
357Dilated cardiomyopathyEnrichmentBRAF, RAF11.50
358Neural tube defectsEnrichmentITGB11.49
359Dyskeratosis congenitaEnrichmentNPM11.45
36046,xy complete gonadal dysgenesisEnrichmentMAP3K11.43
361MicrocephalyEnrichmentMAPK1, PTPN111.42
362Alzheimer disease, familial, 1EnrichmentNOS31.40
363Hypertension, essentialEnrichmentNOS31.40
364Heart, malformation ofEnrichmentMAPK11.38
365GliosarcomaEnrichmentTP531.36
366Giant cell glioblastomaEnrichmentTP531.33
367Myocardial infarctionEnrichmentESR11.30
368Wilms tumor 1EnrichmentBRAF1.29
369MedulloblastomaEnrichmentCTNNB11.29
370Cleft lip/palateEnrichmentCDH11.29
371HepatoblastomaEnrichmentTP531.24
372Melanoma, cutaneous malignant 1EnrichmentBRAF1.24
373Dandy-walker syndromeEnrichmentBRAF1.24
374Brugada syndromeEnrichmentCACNA1C1.22
375Polycystic liver diseaseEnrichmentCTNNB11.21
376Autosomal dominant polycystic liver diseaseEnrichmentCTNNB11.21
377Diamond-blackfan anemia 1EnrichmentTP531.20
378Arteriovenous malformations of the brainEnrichmentBRAF1.19
379Pancreatic cancerEnrichmentTP531.17
380Behcet syndromeEnrichmentFAS1.16
381Long qt syndromeEnrichmentCACNA1C1.15
382Leukemia, acute myeloidEnrichmentNPM11.13
383Familial hypertrophic cardiomyopathyEnrichmentRAF11.12
384Left ventricular noncompactionEnrichmentRAF11.10
385Autoinflammatory diseaseEnrichmentXIAP1.10
386Cerebral palsyEnrichmentCACNA1C1.05
387HypertelorismEnrichmentPIK3CA1.02
388Diamond-blackfan anemiaEnrichmentTP531.02
389Familial isolated dilated cardiomyopathyEnrichmentRAF10.93
390Hereditary breast ovarian cancer syndromeEnrichmentPTEN0.89
391West syndromeEnrichmentNTRK20.85
392Body mass index quantitative trait locus 11EnrichmentBDNF0.80
393Undetermined early-onset epileptic encephalopathyEnrichmentNTRK20.75
394Congenital nervous system abnormalityEnrichmentPTEN0.63
395Nervous system diseaseEnrichmentPTEN0.63
396AutismEnrichmentTCF7L20.62
397Complex neurodevelopmental disorderEnrichmentCACNA1C0.59

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