CNTF Signaling

Pathway network for the CNTF Signaling SuperPath

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

Pathways in the CNTF Signaling SuperPath

#NameSourceGenes
1CNTF SignalingQIAGEN
2FLT3 SignalingQIAGEN
3IL-3 PathwayQIAGEN
4Immune response Oncostatin M signaling via MAPK in human cellsGeneGo (Thomson Reuters)
5MAPK cascadeWikiPathways
6G-protein signaling Ras family GTPases in kinase cascades (scheme)GeneGo (Thomson Reuters)
7OSM PathwayQIAGEN
8Nur77-Induced AICD in MacrophageQIAGEN
9Host-pathogen interaction of human coronaviruses - MAPK signalingWikiPathways
10Inhibition of exosome biogenesis and secretion by Manumycin A in CRPC cellsWikiPathways
11Activation of the AP-1 family of transcription factorsReactome

Gene overlap in member pathways for CNTF Signaling SuperPath

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

Disorders associated with CNTF Signaling SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentHRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS2, SOS1, SOS216.00
2Noonan syndrome 1EnrichmentBRAF, HRAS, KRAS, MAP2K1, MAP2K2, MRAS, NRAS, RAF1, RRAS, RRAS2, SOS1, SOS216.00
3Noonan syndrome and noonan-related syndromeEnrichmentBRAF, CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF111.66
4Lung non-small cell carcinomaEnrichmentBRAF, HRAS, KRAS, MAP2K1, NRAS11.61
5Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K210.79
6Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K210.79
7Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF19.71
8Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS19.22
9Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS8.20
10Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS8.11
11Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT38.06
12Differentiated thyroid carcinomaEnrichmentBRAF, HRAS, KRAS, NRAS7.30
13Nevus, epidermalEnrichmentHRAS, KRAS, NRAS7.16
14Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS7.16
15Pilomyxoid astrocytomaEnrichmentBRAF, KRAS, RAF17.16
16Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS7.16
17Juvenile myelomonocytic leukemiaEnrichmentCBL, KRAS, NRAS, RRAS6.75
18Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS5.78
19Pulmonic stenosisEnrichmentBRAF, SOS15.36
20Large congenital melanocytic nevusEnrichmentHRAS, NRAS5.30
21Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS5.00
22Noonan syndrome with multiple lentiginesEnrichmentBRAF, RAF15.00
23Ectodermal dysplasia and immune deficiencyEnrichmentIKBKG, NFKBIA4.76
24Stuve-wiedemann syndrome 1EnrichmentIL6ST, LIFR4.51
25Stüve-wiedemann syndromeEnrichmentIL6ST, LIFR4.51
26Leukemia, chronic myeloidEnrichmentKRAS, NRAS4.46
27Gallbladder cancerEnrichmentBRAF, KRAS4.46
28Congenital generalized lipodystrophyEnrichmentFOS, PPARG4.19
29Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K14.13
30Leukemia, acute myeloidEnrichmentJAK2, KRAS, NRAS4.08
31Histiocytoid hemangiomaEnrichmentFOS, FOSB3.97
32Lip and oral cavity carcinomaEnrichmentBRAF, HRAS3.96
33Myeloma, multipleEnrichmentBRAF, FLT3, KRAS, PIK3R23.94
34Arteriovenous malformationEnrichmentHRAS, MAP2K13.90
35Lung cancer susceptibility 3EnrichmentBRAF, KRAS3.82
36Breast adenocarcinomaEnrichmentAKT1, KRAS3.82
37Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K13.80
38Specific learning disabilityEnrichmentMAPK1, RPS6KA33.75
39Arteriovenous malformations of the brainEnrichmentBRAF, KRAS3.55
40Overgrowth syndromeEnrichmentMTOR, PIK3R13.39
41Colorectal cancerEnrichmentAKT1, BRAF, NRAS, PIK3R13.32
4246,xy partial gonadal dysgenesisEnrichmentMAP3K1, SOS13.29
43Bladder cancerEnrichmentHRAS, KRAS3.18
44Ventricular septal defectEnrichmentBRAF, RPS6KA33.15
45Noonan syndrome 13EnrichmentMAPK13.13
46Diffuse large b-cell lymphomaEnrichmentBRAF, STAT33.13
47Non-immune hydrops fetalisEnrichmentHRAS, KRAS3.12
48Acute promyelocytic leukemiaEnrichmentSTAT3, STAT5B3.11
49Lung cancerEnrichmentBRAF, KRAS3.09
50Oculoectodermal syndromeEnrichmentKRAS2.88
51Pallister-killian syndromeEnrichmentARAF2.88
52Griscelli syndrome, type 2EnrichmentRAB27A2.88
53Noonan syndrome 5EnrichmentRAF12.88
54Noonan syndrome 7EnrichmentBRAF2.88
55Leopard syndrome 3EnrichmentBRAF2.88
56Cardiomyopathy, dilated, 1nnEnrichmentRAF12.88
57Melanosis, neurocutaneousEnrichmentNRAS2.88
58Noonan syndrome 6EnrichmentNRAS2.88
59Noonan syndrome 11EnrichmentMRAS2.88
60Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.88
61LymphangiomaEnrichmentBRAF2.88
62Phace associationEnrichmentBRAF2.88
63Leopard syndrome 2EnrichmentRAF12.88
64Griscelli syndromeEnrichmentRAB27A2.88
65TrigonitisEnrichmentRAF12.88
66Microcephaly 29, primary, autosomal recessiveEnrichmentPDCD6IP2.88
67Congenital pulmonary airway malformationEnrichmentKRAS2.88
68Syringocystadenoma papilliferumEnrichmentBRAF2.88
69GangliogliomaEnrichmentBRAF2.88
70Nongerminomatous germ cell tumorEnrichmentBRAF2.88
71Phace syndromeEnrichmentBRAF2.88
72Phakomatosis pigmentokeratoticaEnrichmentHRAS2.88
73Classic hairy cell leukemiaEnrichmentBRAF2.88
74Neurocutaneous melanocytosisEnrichmentNRAS2.88
75Coffin-lowry syndromeEnrichmentRPS6KA32.73
76Melorheostosis, isolatedEnrichmentMAP2K12.73
77Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.73
78Autism 19EnrichmentEIF4E2.73
79Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA32.73
80MelorheostosisEnrichmentMAP2K12.73
81Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.73
82Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA32.73
83Leprosy 3EnrichmentTLR22.72
84Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired languageEnrichmentMEF2C2.72
85Coronary artery disease, autosomal dominant, 1EnrichmentMEF2A2.72
86Macular degeneration, age-related, 10EnrichmentTLR42.72
875q14.3 microdeletion syndromeEnrichmentMEF2C2.72
88Complete atrioventricular septal defect without ventricular hypoplasiaEnrichmentMEF2C2.72
89Mef2c-related disorderEnrichmentMEF2C2.72
90Amyloidosis, primary localized cutaneous, 1EnrichmentOSMR2.67
91Noonan syndrome 4EnrichmentSOS12.67
92Noonan syndrome 9EnrichmentSOS22.67
93Stuve-wiedemann syndrome 2EnrichmentIL6ST2.67
94Hyper-ige syndrome 4a, autosomal dominant, with recurrent infectionsEnrichmentIL6ST2.67
95T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.67
96Immunodeficiency 31aEnrichmentSTAT12.67
97Immunodeficiency 31bEnrichmentSTAT12.67
98Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.67
99Hyper-ige syndrome 4b, autosomal recessive, with recurrent infectionsEnrichmentIL6ST2.67
100Immunodeficiency 94 with autoinflammation and dysmorphic faciesEnrichmentIL6ST2.67
101T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK32.67
102Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.67
103Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.67
104Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK12.67
10546,xy sex reversal 6EnrichmentMAP3K12.66
106Intellectual developmental disorder with macrocephaly, seizures, and speech delayEnrichmentPAK12.66
107Takenouchi-kosaki syndromeEnrichmentCDC422.66
108Nocarh syndromeEnrichmentCDC422.66
109Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.66
110RhabdomyosarcomaEnrichmentCBL, HRAS2.64
111Spondylometaphyseal dysplasia with corneal dystrophyEnrichmentPLCB32.61
112Cerebral cavernous malformations 5EnrichmentMAP3K32.61
113Verrucous hemangiomaEnrichmentMAP3K32.61
114Costello syndromeEnrichmentHRAS2.58
115Encephalocraniocutaneous lipomatosisEnrichmentKRAS2.58
116Noonan syndrome 12EnrichmentRRAS22.58
117Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defectsEnrichmentHNRNPH12.58
118Wooly hair nevusEnrichmentHRAS2.58
119Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK12.53
120Proteus syndromeEnrichmentAKT12.49
121Immunodeficiency 35EnrichmentTYK22.49
122Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.49
123Pseudo-torch syndrome 3EnrichmentSTAT22.49
124Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B2.49
125Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT62.49
126Disabling pansclerotic morphea of childhoodEnrichmentSTAT42.49
127Short syndromeEnrichmentPIK3R12.49
128Systemic lupus erythematosus 11EnrichmentSTAT42.49
129Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.49
130Cowden syndrome 6EnrichmentAKT12.49
131Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.49
132MetachondromatosisEnrichmentPTPN112.48
133Leopard syndrome 1EnrichmentPTPN112.48
134Coronary heart disease 6EnrichmentMMP32.48
135Pparg-associated congenital generalized lipodystrophyEnrichmentPPARG2.48
136Aplasia cutis-enamel dysplasia syndromeEnrichmentFOSL22.48
137Malignant astrocytomaEnrichmentPTPN112.48
138Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN112.48
139Intravascular large b-cell lymphomaEnrichmentBCL22.43
140Tafro syndromeEnrichmentMAP2K22.43
141Breast cancerEnrichmentAKT1, JUN, KRAS2.42
142Ataxia-telangiectasiaEnrichmentBRAF2.40
143Tethered spinal cord syndromeEnrichmentBRAF2.40
144SpermatocytomaEnrichmentHRAS2.40
145Incontinentia pigmentiEnrichmentIKBKG2.38
146Autoinflammatory disease, systemic, x-linkedEnrichmentIKBKG2.38
147Fetal encasement syndromeEnrichmentCHUK2.38
148Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.38
149Immunodeficiency 15bEnrichmentIKBKB2.38
150Immunodeficiency 15aEnrichmentIKBKB2.38
151Ectodermal dysplasia and immunodeficiency 1EnrichmentIKBKG2.38
152Surfactant metabolism dysfunction, pulmonary, 5EnrichmentCSF2RB2.38
153Developmental and epileptic encephalopathy 56EnrichmentYWHAG2.38
154Bartsocas-papas syndrome 2EnrichmentCHUK2.38
155Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.38
156Distal 17p13.3 microdeletion syndromeEnrichmentYWHAE2.38
157Ovarian cancerEnrichmentAKT1, KRAS, RRAS22.37
158Fibromatosis, gingival, 1EnrichmentSOS12.37
159Thrombocythemia 3EnrichmentJAK22.37
160Immunodeficiency 31cEnrichmentSTAT12.37
161Primary cutaneous amyloidosisEnrichmentOSMR2.37
162Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK12.37
163PolycythemiaEnrichmentJAK22.37
164Hypereosinophilic syndromeEnrichmentJAK22.37
165Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.35
166Immune system diseaseEnrichmentCDC422.35
167Acute myeloid leukemia with minimal differentiationEnrichmentFLT32.35
168Immunodeficiency 125EnrichmentFLT3LG2.35
169Autoinflammatory disease, familial, behcet-like 3EnrichmentSIPA12.31
170Dilated cardiomyopathyEnrichmentBRAF, RAF12.31
171Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS2.28
172Thyroid cancer, nonmedullary, 1EnrichmentBRAF2.28
173Intellectual developmental disorder, x-linked, syndromic, bain typeEnrichmentHNRNPH12.28
174Lung sarcomatoid carcinomaEnrichmentKRAS2.28
175CraniopharyngiomaEnrichmentBRAF2.28
176Pilocytic astrocytomaEnrichmentKRAS2.28
177Newborn respiratory distress syndromeEnrichmentBRAF2.28
178Epidermolytic nevusEnrichmentHRAS2.28
179Intellectual disability, x-linked, syndromic, bain typeEnrichmentHNRNPH12.28
180High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL22.26
181Myxoid liposarcomaEnrichmentDDIT32.26
182Jacobsen syndromeEnrichmentETS12.24
183Lennox-gastaut syndromeEnrichmentMAPK102.23
184Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK32.19
185Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT32.19
186Polycythemia veraEnrichmentJAK22.19
187Nuchal bleb, familialEnrichmentSOS12.19
188Hyper ige syndromeEnrichmentSTAT32.19
189Hemangiopericytoma, malignantEnrichmentSTAT62.19
190Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B2.19
191Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R52.19
192Lymphomatoid papulosisEnrichmentTYK22.19
193Laron syndrome with immunodeficiencyEnrichmentSTAT5B2.19
194Primary cutaneous anaplastic large cell lymphomaEnrichmentTYK22.19
195Metaphyseal dysplasia, spahr typeEnrichmentMMP132.18
196Spondyloepimetaphyseal dysplasia, missouri typeEnrichmentMMP132.18
197Carotid intimal medial thickness 1EnrichmentPPARG2.18
198Werner syndromeEnrichmentPTPN112.18
199Hyperlipoproteinemia, type iiiEnrichmentLDLR2.18
200Recessive dystrophic epidermolysis bullosaEnrichmentMMP12.18
201Metaphyseal anadysplasiaEnrichmentMMP132.18
202Familial partial lipodystrophyEnrichmentPPARG2.18
203Neurofibromatosis-noonan syndromeEnrichmentMAP2K22.13
204Wilms tumor 5EnrichmentBRAF2.10
205Lung squamous cell carcinomaEnrichmentKRAS2.10
206Immunodeficiency 33EnrichmentIKBKG2.08
207Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA2.08
208Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.08
209Glucosephosphate dehydrogenase deficiencyEnrichmentIKBKG2.08
210Common variable immunodeficiency 12EnrichmentNFKB12.08
211Erythrocytosis, familial, 1EnrichmentJAK22.07
212Budd-chiari syndromeEnrichmentJAK22.07
213Adenosine deaminase deficiencyEnrichmentJAK32.07
214Gingival fibromatosisEnrichmentSOS12.07
215Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS22.07
216Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCDC422.05
217Hereditary breast carcinomaEnrichmentAKT1, KRAS2.05
218Ovarian germ cell cancerEnrichmentCBL2.05
219Histiocytoma, angiomatoid fibrousEnrichmentCREB12.05
220Cebalid syndromeEnrichmentMTOR2.05
221Smith-kingsmore syndromeEnrichmentMTOR2.05
222Acute myeloid leukemia without maturationEnrichmentFLT32.05
223Malignant germ cell tumor of ovaryEnrichmentCBL2.05
224Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)EnrichmentFLT32.05
225Follicular lymphomaEnrichmentBCL22.04
226Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3R12.01
227Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R12.01
228Immunodeficiency 14EnrichmentPIK3R12.01
229Immunodeficiency 44EnrichmentSTAT22.01
230Hypercholesterolemia, familial, 2EnrichmentLDLR2.00
231Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasiaEnrichmentLDLR2.00
232Hypercholesterolemia, familial, 4EnrichmentLDLR2.00
233Syndromic x-linked intellectual disability najm typeEnrichmentLDLR2.00
234Tricuspid valve insufficiencyEnrichmentPTPN112.00
235Lymphoma, non-hodgkin, familialEnrichmentBRAF1.98
236Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK31.97
237Myeloproliferative neoplasmEnrichmentJAK21.97
238Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.93
239Primary hyperaldosteronismEnrichmentBRAF1.93
240Nasopharyngeal carcinomaEnrichmentNFKBIA1.90
241Miller-dieker lissencephaly syndromeEnrichmentYWHAE1.90
242Chromosome 17p13.3, centromeric, duplication syndromeEnrichmentYWHAE1.90
243Chronic mucocutaneous candidiasisEnrichmentSTAT11.89
244Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3R21.89
245Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentPIK3R21.89
246Pediatric systemic lupus erythematosusEnrichmentSTAT41.89
247MelanomaEnrichmentBRAF1.88
248Heart, malformation ofEnrichmentMAPK11.88
249Lipodystrophy, familial partial, type 3EnrichmentPPARG1.88
250Leptin deficiency or dysfunctionEnrichmentPPARG1.88
251Pseudomyogenic hemangioendotheliomaEnrichmentFOSB1.88
252Periventricular leukomalaciaEnrichmentRPS6KC11.87
253Melanoma of soft tissueEnrichmentCREB11.87
254Mixed phenotype acute leukemia with tEnrichmentFLT31.87
255Gastroesophageal refluxEnrichmentRPS6KA31.83
256Orthostatic intoleranceEnrichmentRPS6KA31.83
257MyelofibrosisEnrichmentJAK21.83
258Essential thrombocythemiaEnrichmentJAK21.83
259Hyperlipidemia, familial combined, 3EnrichmentLDLR1.78
260LymphomaEnrichmentPTPN111.78
261Permanent neonatal diabetes mellitusEnrichmentSTAT31.77
262Protein-deficiency anemiaEnrichmentNRAS1.77
263Focal cortical dysplasia, type iiEnrichmentMTOR1.75
264Chronic myelomonocytic leukemiaEnrichmentFLT31.75
265Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)EnrichmentFLT31.75
266Isolated focal cortical dysplasia type iiEnrichmentMTOR1.75
267Autism spectrum disorderEnrichmentMAP2K1, MEF2C1.74
268Leukemia, acute lymphoblastic 3EnrichmentJAK21.72
269Wilms tumor 1EnrichmentBRAF1.70
270Lynch syndromeEnrichmentKRAS1.70
271Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.70
272Cowden syndrome 1EnrichmentLDLR1.70
273Lipid metabolism disorderEnrichmentLDLR1.70
274Patent ductus arteriosusEnrichmentPTPN111.70
275Anemia, congenital, nonspherocytic hemolytic, 1EnrichmentIKBKG1.68
276Hereditary pulmonary alveolar proteinosisEnrichmentCSF2RB1.68
277Endometrial stromal sarcomaEnrichmentYWHAE1.68
278Acute myeloid leukemia with maturationEnrichmentFLT31.65
279HemimegalencephalyEnrichmentMTOR1.65
280Aggressive systemic mastocytosisEnrichmentCBL1.65
281Acute myeloid leukemia with t(8;21)(q22;q22) translocationEnrichmentFLT31.65
282Melanoma, cutaneous malignant 1EnrichmentBRAF1.65
283Dandy-walker syndromeEnrichmentBRAF1.65
284Oligoarticular juvenile idiopathic arthritisEnrichmentSTAT41.65
285Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentSTAT41.65
28646,xy complete gonadal dysgenesisEnrichmentMAP3K11.62
287Kidney clear cell sarcomaEnrichmentYWHAE1.60
288Homozygous familial hypercholesterolemiaEnrichmentLDLR1.58
289Aortic valve disease 1EnrichmentSOS11.56
290Nk-cell enteropathyEnrichmentJAK31.56
291Multisystem inflammatory syndrome in childrenEnrichmentRAB27A1.54
292Cowden syndromeEnrichmentAKT11.54
293Common variable immunodeficiencyEnrichmentNFKB11.54
294Coronary heart disease 5EnrichmentLDLR1.53
295Renal cell carcinoma, papillary, 1EnrichmentMTOR1.51
296B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentFLT31.51
297Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.50
298Autoinflammatory diseaseEnrichmentRAB27A1.50
299Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.50
300Pancreatic cancerEnrichmentKRAS1.49
301Behcet syndromeEnrichmentTLR41.45
302Pectus excavatumEnrichmentPTPN111.44
303MeningiomaEnrichmentAKT11.42
304EpicanthusEnrichmentPTPN111.41
305Congenital long qt syndromeEnrichmentPTPN111.41
306Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentFLT31.40
307Ciliary dyskinesia, primary, 3EnrichmentNFKB11.38
308Primary autosomal recessive microcephalyEnrichmentPDCD6IP1.38
309Hypercholesterolemia, familial, 1EnrichmentLDLR1.37
310Familial hypertrophic cardiomyopathyEnrichmentRAF11.37
311Left ventricular noncompactionEnrichmentRAF11.34
312Leukemia, acute lymphoblasticEnrichmentFLT31.32
313Familial hypercholesterolemiaEnrichmentLDLR1.31
314GliosarcomaEnrichmentPPARG1.29
315Giant cell glioblastomaEnrichmentPPARG1.26
316Gastric cancerEnrichmentKRAS1.26
317Human immunodeficiency virus type 1EnrichmentCCL21.24
318Patent foramen ovaleEnrichmentPTPN111.24
319Severe covid-19EnrichmentJAK31.22
320MicrocephalyEnrichmentMAPK1, PTPN111.20
321Non-syndromic x-linked intellectual disabilityEnrichmentRPS6KA31.19
322Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.18
323Rare genetic intellectual disabilityEnrichmentMTOR1.18
324Familial isolated dilated cardiomyopathyEnrichmentRAF11.17
325Severe combined immunodeficiencyEnrichmentJAK31.17
326Hereditary breast ovarian cancer syndromeEnrichmentKRAS1.15
327Systemic lupus erythematosusEnrichmentETS11.14
328ScoliosisEnrichmentPTPN111.12
329StrabismusEnrichmentPTPN111.07
330HypertelorismEnrichmentRPS6KA31.04
331MalariaEnrichmentIKBKG1.03
332Long qt syndrome 1EnrichmentPTPN111.02
333Precursor t-cell acute lymphoblastic leukemiaEnrichmentFLT31.01
334CakutEnrichmentLIFR0.98
335Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentMEF2C0.98
336Primary ovarian insufficiencyEnrichmentJAK20.92
337Type 2 diabetes mellitusEnrichmentPPARG0.88
338Hypertrophic cardiomyopathyEnrichmentPTPN110.88
339ThrombocytopeniaEnrichmentPTPN110.83
340Body mass index quantitative trait locus 11EnrichmentPPARG0.81
341Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.77
342Autosomal dominant non-syndromic intellectual disabilityEnrichmentYWHAZ0.72
343Undetermined early-onset epileptic encephalopathyEnrichmentYWHAG0.68
344Inherited cancer-predisposing syndromeEnrichmentPTPN110.45

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