IL-9 Signaling Pathways

Pathway network for the IL-9 Signaling Pathways SuperPath

Sources:
  • R&D Systems
  • QIAGEN
  • GeneGo (Thomson Reuters)
  • Reactome

Pathways in the IL-9 Signaling Pathways SuperPath

#NameSourceGenes
1IL-9 Signaling PathwaysR&D Systems
2Adipocytokines and Insulin SignalingR&D Systems
3IL-4 PathwayQIAGEN
4Development Thrombopoietin-regulated cell processesGeneGo (Thomson Reuters)
5Immune response IL-9 signaling pathwayGeneGo (Thomson Reuters)
6IL-4 Signaling PathwaysR&D Systems
7IL-2 Signaling PathwaysR&D Systems
8IL-21 Signaling PathwaysR&D Systems
9IL-7 Signaling PathwaysR&D Systems
10IL-15 Signaling PathwaysR&D Systems
11Common Cytokine Receptor Gamma-Chain Family Signaling PathwaysR&D Systems
12IL-9 PathwayQIAGEN
13Interleukin-9 signalingReactome

Gene overlap in member pathways for IL-9 Signaling Pathways SuperPath

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

Disorders associated with IL-9 Signaling Pathways SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1RasopathyEnrichmentBRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS216.00
2Noonan syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS211.81
3Noonan syndrome and noonan-related syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K2, RAF1, SOS111.34
4Cardiofaciocutaneous syndrome 1EnrichmentBRAF, KRAS, MAP2K1, MAP2K210.13
5Cardiofaciocutaneous syndromeEnrichmentBRAF, KRAS, MAP2K1, MAP2K210.13
6Lung non-small cell carcinomaEnrichmentBRAF, HRAS, KRAS, MAP2K1, NRAS9.03
7Type 2 diabetes mellitusEnrichmentAKT2, IL6, INSR, IRS1, IRS2, RETN, SLC2A48.64
8Thyroid cancer, nonmedullary, 2EnrichmentBRAF, HRAS, NRAS, PTEN7.81
9Noonan syndrome 3EnrichmentHRAS, KRAS, RAF1, SOS17.81
10Follicular thyroid carcinomaEnrichmentBRAF, HRAS, NRAS, PTEN7.81
11Melanocytic nevus syndrome, congenitalEnrichmentBRAF, HRAS, NRAS, RAF17.51
12Langerhans cell histiocytosisEnrichmentBRAF, MAP2K1, NRAS7.00
13Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R26.73
14Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS6.40
15Noonan syndrome with multiple lentiginesEnrichmentBRAF, PTPN11, RAF16.22
16Pilomyxoid astrocytomaEnrichmentBRAF, KRAS, RAF16.15
17Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, STAT35.93
18HemimegalencephalyEnrichmentAKT3, MTOR, PTEN5.83
19Essential thrombocythemiaEnrichmentJAK2, MPL, THPO5.79
20Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA5.55
21Nevus, epidermalEnrichmentHRAS, KRAS, NRAS5.46
22Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA5.39
23Pulmonic stenosisEnrichmentBRAF, SOS15.12
24Immunodeficiency 31cEnrichmentIL21R, STAT15.07
25Differentiated thyroid carcinomaEnrichmentBRAF, HRAS, KRAS, NRAS5.01
26Lip and oral cavity carcinomaEnrichmentBRAF, HRAS, PIK3CA4.99
27Psoriatic arthritisEnrichmentLTA, TNF4.94
28Congenital amegakaryocytic thrombocytopeniaEnrichmentMPL, THPO4.88
29Colorectal cancerEnrichmentAKT1, BRAF, CCND1, PIK3CA, PIK3R14.79
30Diffuse large b-cell lymphomaEnrichmentBRAF, FOXO1, STAT34.72
31Myeloma, multipleEnrichmentBRAF, IL7R, KRAS, PIK3R24.67
32Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, RRAS4.67
33Celiac disease 1EnrichmentHLA-DQA1, HLA-DQB14.66
34Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.66
35Bullous pemphigoidEnrichmentHLA-DQB1, HLA-DRB14.66
36Pediatric multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB14.66
37Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R14.64
38Immunodeficiency 14EnrichmentPIK3CD, PIK3R14.64
39Acute promyelocytic leukemiaEnrichmentSTAT3, STAT5B4.52
40Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.49
41Dyskeratosis congenita, autosomal dominant 6EnrichmentMPL, THPO4.40
42Melanoma of soft tissueEnrichmentATF1, CREB14.40
43Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R24.34
44Breast cancerEnrichmentAKT1, JUN, KRAS, PTEN, SHC14.30
45Large congenital melanocytic nevusEnrichmentHRAS, NRAS4.18
46Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL, MAPK14.10
47Breast adenocarcinomaEnrichmentAKT1, KRAS3.94
48Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS3.88
49Idiopathic achalasiaEnrichmentHLA-DQA1, HLA-DQB13.88
50Hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeEnrichmentHBG1, HBG23.88
51Myeloproliferative neoplasmEnrichmentCBL, JAK23.88
52Arteriovenous malformations of the brainEnrichmentBRAF, IL6, KRAS3.87
53Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K13.80
54Gallbladder cancerEnrichmentBRAF, KRAS3.80
55Bladder cancerEnrichmentCDKN1A, HRAS, PIK3CA3.79
56Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, PTPN113.77
57Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB3.73
58Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB3.73
59Narcolepsy 2EnrichmentHLA-DQB1, HLA-DRB13.66
60Follicular lymphomaEnrichmentBCL2, HLA-DRB13.66
61Hereditary persistence of fetal hemoglobin-sickle cell disease syndromeEnrichmentHBG1, HBG23.66
62Multiple endocrine neoplasia, type iEnrichmentCDKN1A, CDKN1B3.56
63MyelofibrosisEnrichmentJAK2, MPL3.56
64Histiocytoid hemangiomaEnrichmentFOS, FOSB3.55
65Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R13.47
66Omenn syndromeEnrichmentIL2RG, IL7R3.42
67Type 1 diabetes mellitusEnrichmentIL6, INS3.37
68Leukemia, chronic myeloidEnrichmentKRAS, NRAS3.34
69Ventricular septal defectEnrichmentBRAF, RPS6KA33.33
70Cowden syndromeEnrichmentAKT1, PIK3CA3.33
71Nk-cell enteropathyEnrichmentJAK3, PIK3CB3.23
72Overgrowth syndromeEnrichmentMTOR, PIK3R13.23
73Fetal hemoglobin quantitative trait locus 1EnrichmentHBG1, HBG23.22
74Narcolepsy 1EnrichmentHLA-DQB1, HLA-DRB13.22
75Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B3.18
76T-cell large granular lymphocyte leukemiaEnrichmentSTAT33.18
77Immunodeficiency 31aEnrichmentSTAT13.18
78Immunodeficiency 31bEnrichmentSTAT13.18
79Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT33.18
80T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK33.18
81Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT33.18
82Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT33.18
83Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK13.18
84Lung cancer susceptibility 3EnrichmentBRAF, KRAS3.17
85Specific learning disabilityEnrichmentMAPK1, RPS6KA33.14
86MeningiomaEnrichmentAKT1, PIK3CA3.07
87MalariaEnrichmentCISH, TNF3.03
88MelanomaEnrichmentBRAF, PTEN3.02
89Inflammatory bowel disease 1EnrichmentIL6, PRKCQ3.00
90Hereditary breast carcinomaEnrichmentAKT1, KRAS, PTEN2.94
91Ovarian cancerEnrichmentAKT1, KRAS, PTEN, RRAS22.88
92Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B2.88
93Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK12.88
94Laron syndrome with immunodeficiencyEnrichmentSTAT5B2.88
95RhabdomyosarcomaEnrichmentCBL, HRAS2.81
96Multiple sclerosisEnrichmentHLA-DQB1, HLA-DRB12.72
97Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK32.70
98Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT32.70
99Severe combined immunodeficiency, x-linkedEnrichmentIL2RG2.70
100Combined immunodeficiency, x-linkedEnrichmentIL2RG2.70
101Hyper ige syndromeEnrichmentSTAT32.70
102Periodic fever, familial, autosomal dominantEnrichmentTNFRSF1A2.70
103Leprosy 4EnrichmentLTA2.70
104Dermatitis, atopic, 4EnrichmentSOCS32.70
105Ataxia-oculomotor apraxia 3EnrichmentPIK3R52.70
106Short syndromeEnrichmentPIK3R12.70
107Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.70
108Multiple sclerosis 5EnrichmentTNFRSF1A2.70
109Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.70
110Tnf receptor-associated periodic fever syndromeEnrichmentTNFRSF1A2.70
111Adenosine deaminase deficiencyEnrichmentJAK32.58
112Systemic lupus erythematosusEnrichmentSOCS1, TNF2.57
113Proteus syndromeEnrichmentAKT12.55
114Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.55
115Oculoectodermal syndromeEnrichmentKRAS2.55
116Pallister-killian syndromeEnrichmentARAF2.55
117Noonan syndrome 5EnrichmentRAF12.55
118Noonan syndrome 4EnrichmentSOS12.55
119Melorheostosis, isolatedEnrichmentMAP2K12.55
120Noonan syndrome 7EnrichmentBRAF2.55
121Leopard syndrome 3EnrichmentBRAF2.55
122Cardiomyopathy, dilated, 1nnEnrichmentRAF12.55
123Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.55
124Noonan syndrome 9EnrichmentSOS22.55
125Noonan syndrome 13EnrichmentMAPK12.55
126Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT62.55
127Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.55
128Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.55
129LymphangiomaEnrichmentBRAF2.55
130Phace associationEnrichmentBRAF2.55
131MelorheostosisEnrichmentMAP2K12.55
132Leopard syndrome 2EnrichmentRAF12.55
133Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.55
134Cowden syndrome 6EnrichmentAKT12.55
135Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD2.55
136Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG2.55
137TrigonitisEnrichmentRAF12.55
138Capillary hemangiomaEnrichmentAKT32.55
139Congenital pulmonary airway malformationEnrichmentKRAS2.55
140Syringocystadenoma papilliferumEnrichmentBRAF2.55
141GangliogliomaEnrichmentBRAF2.55
142Nongerminomatous germ cell tumorEnrichmentBRAF2.55
143Phace syndromeEnrichmentBRAF2.55
144Classic hairy cell leukemiaEnrichmentBRAF2.55
145Akt2-related familial partial lipodystrophyEnrichmentAKT22.55
146Immunodeficiency 130 with hpv-related verrucosisEnrichmentIL72.53
147T-b+ severe combined immunodeficiency due to il-7ralpha deficiencyEnrichmentIL7R2.53
148Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB2.53
149Immunodeficiency 35EnrichmentTYK22.52
150Type 1 diabetes mellitus 10EnrichmentIL2RA2.52
151Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK32.48
152MacrodactylyEnrichmentPIK3CA2.48
153Megalencephaly, autosomal dominantEnrichmentPIK3CA2.48
154Cowden syndrome 5EnrichmentPIK3CA2.48
155Fetal encasement syndromeEnrichmentCHUK2.48
156Cerebral cavernous malformations 4EnrichmentPIK3CA2.48
157Immunodeficiency 15bEnrichmentIKBKB2.48
158Immunodeficiency 15aEnrichmentIKBKB2.48
159Hemifacial myohyperplasiaEnrichmentPIK3CA2.48
160Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.48
161Bartsocas-papas syndrome 2EnrichmentCHUK2.48
162Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.48
163HypospadiasEnrichmentPIK3CA2.48
164Immunodeficiency 112EnrichmentMAP3K142.48
165Rare venous malformationEnrichmentPIK3CA2.48
166Diaphragmatic eventrationEnrichmentPIK3CA2.48
167Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.48
168Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiencyEnrichmentCHUK2.48
169Rare combined vascular malformationEnrichmentPIK3CA2.48
170Cavernous lymphangiomaEnrichmentPIK3CA2.48
171Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.48
172Phakomatosis pigmentokeratoticaEnrichmentHRAS2.48
173Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.48
174Eccrine angiomatous hamartomaEnrichmentPIK3CA2.48
175Macrodactyly of toeEnrichmentPIK3CA2.48
176Nik deficiencyEnrichmentMAP3K142.48
177Lung cancerEnrichmentBRAF, KRAS2.44
178Coffin-lowry syndromeEnrichmentRPS6KA32.43
179Thrombocythemia 2EnrichmentMPL2.43
180Amegakaryocytic thrombocytopenia, congenital, 1EnrichmentMPL2.43
181Amegakaryocytic thrombocytopenia, congenital, 2EnrichmentTHPO2.43
182Intellectual developmental disorder, x-linked 19EnrichmentRPS6KA32.43
183Neuroendocrine tumorEnrichmentCDKN1B2.43
184Hereditary thrombocytosis with transverse limb defectEnrichmentTHPO2.43
185Thrombocytopenia 9EnrichmentTHPO2.43
186Symptomatic form of coffin-lowry syndrome in female carriersEnrichmentRPS6KA32.43
187Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.43
188Chronic mucocutaneous candidiasisEnrichmentSTAT12.40
189Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R52.40
190Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.40
191Immunodeficiency 127EnrichmentTNF2.40
192Intermittent hydrarthrosisEnrichmentTNFRSF1A2.40
193Common variable immunodeficiency 12EnrichmentNFKB12.40
194Severe combined immunodeficiencyEnrichmentIL7R, JAK32.37
195Vacterl association with hydrocephalusEnrichmentPTEN2.33
196Melanosis, neurocutaneousEnrichmentNRAS2.33
197Noonan syndrome 6EnrichmentNRAS2.33
198Noonan syndrome 11EnrichmentMRAS2.33
199Papillary tumor of the pineal regionEnrichmentPTEN2.33
200Pulmonary alveolar proteinosis, acquiredEnrichmentHLA-DRB12.33
201Graham little-piccardi-lassueur syndromeEnrichmentHLA-DRA2.33
202Glioma susceptibility 2EnrichmentPTEN2.33
203Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndromeEnrichmentPTEN2.33
204Hemoglobinopathy toms riverEnrichmentHBG22.33
205Neurocutaneous melanocytosisEnrichmentNRAS2.33
206Permanent neonatal diabetes mellitusEnrichmentSTAT32.28
207MetachondromatosisEnrichmentPTPN112.27
208Donohue syndromeEnrichmentINSR2.27
209Hyperinsulinemic hypoglycemia, familial, 5EnrichmentINSR2.27
210Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalitiesEnrichmentINSR2.27
211Diabetes mellitus, insulin-resistant, with acanthosis nigricansEnrichmentINSR2.27
212Leopard syndrome 1EnrichmentPTPN112.27
213Microphthalmia/coloboma 10EnrichmentRBP42.27
214Autoimmune lymphoproliferative syndrome, type iiiEnrichmentPRKCD2.27
215Spinocerebellar ataxia 14EnrichmentPRKCG2.27
216Polydactyly-macrocephaly syndromeEnrichmentMAX2.27
217Hereditary palmoplantar keratoderma, gamborg-nielsen typeEnrichmentSERPINA122.27
218Malignant astrocytomaEnrichmentPTPN112.27
219Fibromatosis, gingival, 1EnrichmentSOS12.25
220Hemangiopericytoma, malignantEnrichmentSTAT62.25
221Encephalocraniocutaneous lipomatosisEnrichmentKRAS2.25
222Roifman-chitayat syndromeEnrichmentPIK3CD2.25
223Senior-loken syndrome 7EnrichmentAKT32.25
224Immune system diseaseEnrichmentPIK3CD2.25
225Bardet-biedl syndrome 16EnrichmentAKT32.25
226Tafro syndromeEnrichmentMAP2K22.25
227Immunodeficiency 56EnrichmentIL21R2.23
228Immunodeficiency 104, severe combinedEnrichmentIL7R2.23
229Multiple sclerosis 3EnrichmentIL7R2.23
230Immune thrombocytopeniaEnrichmentSOCS12.22
231Mycosis fungoidesEnrichmentTNFRSF1B2.22
232Autoinflammatory syndrome, familial, with or without immunodeficiencyEnrichmentSOCS12.22
233Bacteremia 2EnrichmentCISH2.22
234Migraine without auraEnrichmentTNF2.22
235Saczary syndromeEnrichmentTNFRSF1B2.22
236Lymphomatoid papulosisEnrichmentTYK22.22
237Primary cutaneous anaplastic large cell lymphomaEnrichmentTYK22.22
238Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA2.22
239Costello syndromeEnrichmentHRAS2.18
240Ectodermal dysplasia and immunodeficiency 2EnrichmentNFKBIA2.18
241Keratosis, seborrheicEnrichmentPIK3CA2.18
242Noonan syndrome 8EnrichmentPIK3CA2.18
243Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA2.18
244Rela fusion-positive ependymomaEnrichmentRELA2.18
245Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.18
246Ectodermal dysplasia and immune deficiencyEnrichmentNFKBIA2.18
247Wooly hair nevusEnrichmentHRAS2.18
248Combined immunodeficiencyEnrichmentIL2RG2.14
249Combined t cell and b cell immunodeficiencyEnrichmentIL2RG2.14
250Combined t and b cell immunodeficiencyEnrichmentIL2RG2.14
251Burkitt lymphomaEnrichmentMYC2.13
252Ovarian germ cell cancerEnrichmentCBL2.13
253Histiocytoma, angiomatoid fibrousEnrichmentCREB12.13
254Thrombocythemia 3EnrichmentJAK22.13
255Multiple endocrine neoplasia, type ivEnrichmentCDKN1B2.13
256Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.13
257PolycythemiaEnrichmentJAK22.13
258Hypereosinophilic syndromeEnrichmentJAK22.13
259Malignant germ cell tumor of ovaryEnrichmentCBL2.13
260Anemia, autoimmune hemolyticEnrichmentSOCS12.10
261TuberculosisEnrichmentCISH2.10
262Cerebral malariaEnrichmentTNF2.10
263Severe covid-19EnrichmentHLA-DQB1, JAK32.09
264Ataxia-telangiectasiaEnrichmentBRAF2.08
265Nuchal bleb, familialEnrichmentSOS12.08
266Tethered spinal cord syndromeEnrichmentBRAF2.08
267Immunodeficiency, common variable, 11EnrichmentIL212.05
268Non-immune hydrops fetalisEnrichmentHRAS, KRAS2.03
269Creutzfeldt-jakob diseaseEnrichmentHLA-DQB12.03
270Sarcoidosis 1EnrichmentHLA-DRB12.03
271Cyanosis, transient neonatalEnrichmentHBG22.03
272Noonan syndrome 12EnrichmentRRAS22.03
273Intravascular large b-cell lymphomaEnrichmentBCL22.03
274Vacterl with hydrocephalusEnrichmentPTEN2.03
275Juvenile polyposis of infancyEnrichmentPTEN2.03
276Vascular dementiaEnrichmentTNF2.00
277Pompe disease, infantile-onsetEnrichmentPIK3CA2.00
278Nasopharyngeal carcinomaEnrichmentNFKBIA2.00
279SpermatocytomaEnrichmentHRAS2.00
280KeratoacanthomaEnrichmentPIK3CA2.00
281Hyperinsulinemic hypoglycemia, familial, 4EnrichmentINSR1.97
282Maturity-onset diabetes of the young, type 10EnrichmentINS1.97
283Retinal dystrophy, iris coloboma, and comedogenic acne syndromeEnrichmentRBP41.97
284HyperproinsulinemiaEnrichmentINS1.97
285Werner syndromeEnrichmentPTPN111.97
286Cebalid syndromeEnrichmentMTOR1.97
287Glycogen storage disease 0, muscleEnrichmentGYS11.97
288Diabetes mellitus, permanent neonatal, 4EnrichmentINS1.97
289Smith-kingsmore syndromeEnrichmentMTOR1.97
290Progressive retinal dystrophy due to retinol transport defectEnrichmentRBP41.97
291Glycogen storage disease due to muscle and heart glycogen synthase deficiencyEnrichmentGYS11.97
292Thrombocythemia 1EnrichmentTHPO1.96
293Polycythemia veraEnrichmentJAK21.96
294High-grade b-cell lymphoma double-hit/triple-hitEnrichmentMYC1.96
295Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.95
296Thyroid cancer, nonmedullary, 1EnrichmentBRAF1.95
297Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.95
298Lung sarcomatoid carcinomaEnrichmentKRAS1.95
299CraniopharyngiomaEnrichmentBRAF1.95
300Pilocytic astrocytomaEnrichmentKRAS1.95
301Newborn respiratory distress syndromeEnrichmentBRAF1.95
302Gingival fibromatosisEnrichmentSOS11.95
303Male infertility due to gonadal dysgenesis or sperm disorderEnrichmentSOS21.95
304Inherited epidermodysplasia verruciformisEnrichmentIL71.93
305Cerebrovascular diseaseEnrichmentPIK3CA1.88
306Epidermolytic nevusEnrichmentHRAS1.88
307Familial cerebral cavernous malformationsEnrichmentPIK3CA1.88
308ThrombocytopeniaEnrichmentMPL, THPO1.87
309Common variable immunodeficiencyEnrichmentNFKB11.86
310Rhabdomyosarcoma 2EnrichmentFOXO11.86
311Laryngeal squamous cell carcinomaEnrichmentPTEN1.85
312Adult-onset myasthenia gravisEnrichmentHLA-DQA11.85
313Delta beta-thalassemiaEnrichmentHBG11.85
314Vogt-koyanagi-harada diseaseEnrichmentHLA-DRB11.85
315Erythrocytosis, familial, 1EnrichmentJAK21.83
316Budd-chiari syndromeEnrichmentJAK21.83
317Congenital generalized lipodystrophyEnrichmentFOS1.83
318Mantle cell lymphomaEnrichmentCCND11.83
319Primary hyperparathyroidismEnrichmentCDKN1B1.83
320Leukemia, acute myeloidEnrichmentKRAS, NRAS1.82
321HypertelorismEnrichmentPIK3CA, RPS6KA31.80
322Type 1 diabetes mellitus 2EnrichmentINS1.79
323Adiponectin deficiencyEnrichmentADIPOQ1.79
324Tricuspid valve insufficiencyEnrichmentPTPN111.79
325Capillary malformations, congenitalEnrichmentPIK3CA1.78
326Wilms tumor 5EnrichmentBRAF1.78
327Lung squamous cell carcinomaEnrichmentKRAS1.78
328Gastric cancerEnrichmentKRAS, PTEN1.76
329Charge syndromeEnrichmentTNFRSF1A1.75
330Von hippel-lindau syndromeEnrichmentCCND11.74
331Aggressive systemic mastocytosisEnrichmentCBL1.74
332Temporal arteritisEnrichmentHLA-DRB11.73
333Systemic-onset juvenile idiopathic arthritisEnrichmentHLA-DRB11.73
334GliomaEnrichmentPTEN1.73
335MegacolonEnrichmentAKT31.71
336Ciliary dyskinesia, primary, 3EnrichmentNFKB11.70
337Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.70
338Cowden syndrome 1EnrichmentPIK3CA1.70
339Hemihyperplasia, isolatedEnrichmentPIK3CA1.70
340Autism spectrum disorderEnrichmentMAP2K1, PTEN, PTPN111.68
341Dilated cardiomyopathyEnrichmentBRAF, RAF11.68
342Kaposi sarcomaEnrichmentIL61.67
343Focal cortical dysplasia, type iiEnrichmentMTOR1.67
344Leptin deficiency or dysfunctionEnrichmentLEP1.67
345Neonatal diabetes mellitusEnrichmentINS1.67
346Hereditary ataxiaEnrichmentPRKCG1.67
347Isolated focal cortical dysplasia type iiEnrichmentMTOR1.67
348Pseudomyogenic hemangioendotheliomaEnrichmentFOSB1.67
349AsthmaEnrichmentTNF1.66
350Lymphoma, non-hodgkin, familialEnrichmentBRAF1.65
351Macrocephaly/autism syndromeEnrichmentPTEN1.63
352HemangiomaEnrichmentPTEN1.63
353Acute megakaryocytic leukemiaEnrichmentPTEN1.63
354Diffuse cutaneous systemic sclerosisEnrichmentHLA-DRB11.63
355Cardiomyopathy, familial hypertrophic, 4EnrichmentBRAF1.60
356Primary hyperaldosteronismEnrichmentBRAF1.60
357Alzheimer's diseaseEnrichmentTNF1.59
358Rheumatoid arthritis, systemic juvenileEnrichmentIL61.57
359LymphomaEnrichmentPTPN111.57
360PolymicrogyriaEnrichmentAKT31.56
361Hereditary breast ovarian cancer syndromeEnrichmentKRAS, PTEN1.56
362Granulomatosis with polyangiitisEnrichmentHLA-DPA11.55
363Limited sclerodermaEnrichmentHLA-DRB11.55
364Gastroesophageal refluxEnrichmentRPS6KA31.54
365Orthostatic intoleranceEnrichmentRPS6KA31.54
366Adult hepatocellular carcinomaEnrichmentPIK3CA1.53
367Patent ductus arteriosusEnrichmentPTPN111.50
36846,xy disorder of sex developmentEnrichmentINSR1.50
369IchthyosisEnrichmentIL2RB1.50
370Squamous cell carcinoma, head and neckEnrichmentPTEN1.49
371Leukemia, acute lymphoblastic 3EnrichmentJAK21.49
372Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.49
373Inherited cancer-predisposing syndromeEnrichmentMAX, PTEN, PTPN111.47
374Aortic valve disease 1EnrichmentSOS11.45
375Leukemia, chronic lymphocyticEnrichmentCCND11.44
376Renal cell carcinoma, papillary, 1EnrichmentMTOR1.43
377Behcet syndromeEnrichmentTNFRSF1A1.43
37846,xy partial gonadal dysgenesisEnrichmentSOS11.41
379Wilms tumor 1EnrichmentBRAF1.38
380Lynch syndromeEnrichmentKRAS1.38
381Myocardial infarctionEnrichmentLTA1.37
382Melanoma, cutaneous malignant 1EnrichmentBRAF1.33
383Dandy-walker syndromeEnrichmentBRAF1.33
384Autoinflammatory diseaseEnrichmentTNFRSF1A1.33
385Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.33
386Heart, malformation ofEnrichmentMAPK11.31
387Meningioma, familialEnrichmentPTEN1.29
388Uterine corpus cancerEnrichmentPTEN1.29
389GliosarcomaEnrichmentNFKBIA1.29
390Giant cell glioblastomaEnrichmentNFKBIA1.26
391Pectus excavatumEnrichmentPTPN111.24
392Glycogen storage diseaseEnrichmentGYS11.24
393Diabetes mellitusEnrichmentINS1.24
394Protein-deficiency anemiaEnrichmentNRAS1.22
395EpicanthusEnrichmentPTPN111.20
396Congenital long qt syndromeEnrichmentPTPN111.20
397Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.19
398Endometrial cancerEnrichmentPIK3CA1.17
399Microphthalmia/coloboma 12EnrichmentRBP41.17
400Pancreatic cancerEnrichmentKRAS1.17
401Hepatocellular carcinomaEnrichmentPIK3CA1.15
402PheochromocytomaEnrichmentMAX1.14
403Coloboma of maculaEnrichmentRBP41.11
404Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.11
405Anterior segment dysgenesisEnrichmentRBP41.11
406Rare genetic intellectual disabilityEnrichmentMTOR1.11
407Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYC1.09
408Hydrops fetalis, nonimmuneEnrichmentHRAS1.08
409Familial hypertrophic cardiomyopathyEnrichmentRAF11.05
410Prostate cancerEnrichmentPIK3CA1.04
411Patent foramen ovaleEnrichmentPTPN111.03
412Left ventricular noncompactionEnrichmentRAF11.03
413Macs syndromeEnrichmentRBP40.99
414Maturity-onset diabetes of the youngEnrichmentINS0.99
415Hereditary paraganglioma-pheochromocytoma syndromesEnrichmentMAX0.97
416MicrophthalmiaEnrichmentRBP40.95
417ScoliosisEnrichmentPTPN110.92
418Non-syndromic x-linked intellectual disabilityEnrichmentRPS6KA30.90
419StrabismusEnrichmentPTPN110.87
420Familial isolated dilated cardiomyopathyEnrichmentRAF10.86
421MicrocephalyEnrichmentMAPK1, PTPN110.85
422Long qt syndrome 1EnrichmentPTPN110.83
423Eye diseaseEnrichmentRBP40.76
424Primary ovarian insufficiencyEnrichmentJAK20.71
425Hypertrophic cardiomyopathyEnrichmentPTPN110.68
426Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.58
427Congenital nervous system abnormalityEnrichmentPTEN0.40
428Nervous system diseaseEnrichmentPTEN0.40
429Hereditary retinal dystrophyEnrichmentRBP40.10
430Fundus dystrophyEnrichmentRBP40.10

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