Jak-Stat Signaling Pathway

No Pathway Network information available for Jak-Stat Signaling Pathway

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

Disorders associated with Jak-Stat Signaling Pathway SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF110.92
2Lung non-small cell carcinomaEnrichmentEGFR, HRAS, KRAS, MAP2K1, NRAS, PIK3CA10.38
3Noonan syndrome 1EnrichmentHRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF19.98
4RasopathyEnrichmentHRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF19.64
5Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA7.24
6Noonan syndrome 3EnrichmentHRAS, KRAS, PTPN11, RAF17.24
7Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, JAK2, STAT36.58
8Lip and oral cavity carcinomaEnrichmentABL1, EGFR, HRAS, PIK3CA6.10
9Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS5.98
10Cardiofaciocutaneous syndrome 1EnrichmentKRAS, MAP2K1, MAP2K25.98
11Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentAKT3, PIK3CA, PIK3R25.98
12Cardiofaciocutaneous syndromeEnrichmentKRAS, MAP2K1, MAP2K25.98
13Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL1, KRAS, NRAS5.98
14HemimegalencephalyEnrichmentAKT3, MTOR, PIK3CA5.58
15Breast adenocarcinomaEnrichmentAKT1, KRAS, PIK3CA5.28
16Lung squamous cell carcinomaEnrichmentEGFR, KRAS, PIK3CA5.28
17Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, MAP2K1, PIK3CA5.04
18Leukemia, chronic myeloidEnrichmentABL1, KRAS, NRAS5.04
19Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB, STAT45.04
20Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB, STAT45.04
21Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS, RAF14.84
22Arteriovenous malformationEnrichmentHRAS, MAP2K1, PIK3CA4.67
23Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, MAP2K1, PIK3CA4.51
24Bladder cancerEnrichmentEGFR, HRAS, KRAS, PIK3CA4.46
25Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS4.38
26Immunodeficiency 31cEnrichmentIL21R, STAT14.38
27Immunodeficiency 104, severe combinedEnrichmentIL7R, PTPRC4.38
28Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS, PTPN114.25
29Severe combined immunodeficiencyEnrichmentIL7R, JAK3, LCK, PTPRC4.23
30Breast cancerEnrichmentAKT1, IL7R, KRAS, PIK3CA, SHC13.91
31Langerhans cell histiocytosisEnrichmentMAP2K1, NRAS3.91
32Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R13.91
33Large congenital melanocytic nevusEnrichmentHRAS, NRAS3.91
34Behcet syndromeEnrichmentCCR1, IL23R, STAT43.63
35Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentAKT3, PIK3R23.61
36Noonan syndrome with multiple lentiginesEnrichmentPTPN11, RAF13.61
37Colorectal cancerEnrichmentAKT1, NRAS, PIK3CA, PIK3R1, SRC3.60
38Cowden syndrome 1EnrichmentEGFR, PIK3CA3.21
39Il10-related early-onset inflammatory bowel diseaseEnrichmentIL10RA, IL10RB3.21
40Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS3.07
41Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS3.07
42MyelofibrosisEnrichmentJAK2, SRC3.07
43Gallbladder cancerEnrichmentKRAS, PIK3CA3.07
44Pilomyxoid astrocytomaEnrichmentKRAS, RAF13.07
45Follicular thyroid carcinomaEnrichmentHRAS, NRAS3.07
46Overgrowth syndromeEnrichmentMTOR, PIK3R13.07
47Non-immune hydrops fetalisEnrichmentHRAS, KRAS, PTPN112.98
48Lung cancerEnrichmentEGFR, KRAS, PIK3CA2.94
49Adult hepatocellular carcinomaEnrichmentEGF, PIK3CA2.84
50Cowden syndromeEnrichmentAKT1, PIK3CA2.84
51Systemic lupus erythematosusEnrichmentBLK, SOCS1, STAT42.69
52Leukemia, acute myeloidEnrichmentJAK2, KRAS, NRAS2.66
53Specific learning disabilityEnrichmentMAPK1, PTPN112.66
54MeningiomaEnrichmentAKT1, PIK3CA2.58
55Hereditary breast carcinomaEnrichmentAKT1, KRAS, PIK3CA2.54
56Acute promyelocytic leukemiaEnrichmentSTAT3, STAT5B2.51
57Nk-cell enteropathyEnrichmentIGF1R, JAK32.51
58Lung cancer susceptibility 3EnrichmentEGFR, KRAS2.44
59Lynch syndromeEnrichmentKRAS, PIK3CA2.38
60Ovarian cancerEnrichmentAKT1, EGFR, KRAS, PIK3CA2.38
61Myeloma, multipleEnrichmentIL7R, KRAS, PIK3R22.24
62Human immunodeficiency virus type 1EnrichmentCCR2, CCR52.23
63MacrodactylyEnrichmentPIK3CA2.19
64Proteus syndromeEnrichmentAKT12.19
65MetachondromatosisEnrichmentPTPN112.19
66Hypoinsulinemic hypoglycemia with hemihypertrophyEnrichmentAKT22.19
67Oculoectodermal syndromeEnrichmentKRAS2.19
68Type 1 diabetes mellitus 10EnrichmentIL2RA2.19
69Noonan syndrome 5EnrichmentRAF12.19
70Hypomagnesemia 4, renalEnrichmentEGF2.19
71Melorheostosis, isolatedEnrichmentMAP2K12.19
72Megalencephaly, autosomal dominantEnrichmentPIK3CA2.19
73Immunodeficiency 30EnrichmentIL12RB12.19
74Dermatitis, atopic, 4EnrichmentSOCS32.19
75Leopard syndrome 1EnrichmentPTPN112.19
76Cardiomyopathy, dilated, 1nnEnrichmentRAF12.19
77Cowden syndrome 5EnrichmentPIK3CA2.19
78Polycystic lung diseaseEnrichmentCCR22.19
79Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.19
80Melanosis, neurocutaneousEnrichmentNRAS2.19
81Noonan syndrome 6EnrichmentNRAS2.19
82Whim syndrome 1EnrichmentCXCR42.19
83Craniosynostosis and dental anomaliesEnrichmentIL11RA2.19
84Cerebral cavernous malformations 4EnrichmentPIK3CA2.19
85Pseudo-torch syndrome 3EnrichmentSTAT22.19
86Stuve-wiedemann syndrome 2EnrichmentIL6ST2.19
87Noonan syndrome 13EnrichmentMAPK12.19
88Hyper-ige syndrome 4a, autosomal dominant, with recurrent infectionsEnrichmentIL6ST2.19
89Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B2.19
90Hyper-ige syndrome 6, autosomal dominant, with recurrent infectionsEnrichmentSTAT62.19
91Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB2.19
92Disabling pansclerotic morphea of childhoodEnrichmentSTAT42.19
93Short syndromeEnrichmentPIK3R12.19
94T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.19
95Systemic lupus erythematosus 11EnrichmentSTAT42.19
96Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.19
97Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2EnrichmentAKT32.19
98Psoriasis 7EnrichmentIL23R2.19
99Hemifacial myohyperplasiaEnrichmentPIK3CA2.19
100Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.19
101MelorheostosisEnrichmentMAP2K12.19
102Leopard syndrome 2EnrichmentRAF12.19
103Interleukin 6, serum level of, quantitative trait locusEnrichmentIL6R2.19
104Immunodeficiency 31aEnrichmentSTAT12.19
105Soluble interleukin-6 receptor, serum level of, quantitative trait locusEnrichmentIL6R2.19
106Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.19
107Cardiofaciocutaneous syndrome 4EnrichmentMAP2K22.19
108Cowden syndrome 6EnrichmentAKT12.19
109Hyper-ige syndrome 5, autosomal recessive, with recurrent infectionsEnrichmentIL6R2.19
110Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.19
111Inflammatory bowel disease 17EnrichmentIL23R2.19
112Immunodeficiency 31bEnrichmentSTAT12.19
113Type 1 diabetes mellitus 22EnrichmentCCR52.19
114Immunodeficiency 105, severe combinedEnrichmentPTPRC2.19
115Immunodeficiency 22EnrichmentLCK2.19
116Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.19
117Thrombocytopenia 6EnrichmentSRC2.19
118Hyper-ige syndrome 4b, autosomal recessive, with recurrent infectionsEnrichmentIL6ST2.19
119Immunodeficiency 94 with autoinflammation and dysmorphic faciesEnrichmentIL6ST2.19
120Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN2.19
121Brain abnormalities, neurodegeneration, and dysosteosclerosisEnrichmentCSF1R2.19
122Cd45 deficiencyEnrichmentPTPRC2.19
123TrigonitisEnrichmentRAF12.19
124Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.19
125T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK32.19
126Csf1r-related disorderEnrichmentCSF1R2.19
127HypospadiasEnrichmentPIK3CA2.19
128Capillary hemangiomaEnrichmentAKT32.19
129Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.19
130Congenital pulmonary airway malformationEnrichmentKRAS2.19
131Rare venous malformationEnrichmentPIK3CA2.19
132Vegetative pyoderma gangrenosumEnrichmentPTPN62.19
133Bullous pyoderma gangrenosumEnrichmentPTPN62.19
134Diaphragmatic eventrationEnrichmentPIK3CA2.19
135Chronic neutrophilic leukemiaEnrichmentCSF3R2.19
136Pustular pyoderma gangrenosumEnrichmentPTPN62.19
137Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.19
138Early-onset calcifying leukoencephalopathy-skeletal dysplasiaEnrichmentCSF1R2.19
139Rare combined vascular malformationEnrichmentPIK3CA2.19
140Cavernous lymphangiomaEnrichmentPIK3CA2.19
141Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.19
142T-b+ severe combined immunodeficiency due to il-7ralpha deficiencyEnrichmentIL7R2.19
143Phakomatosis pigmentokeratoticaEnrichmentHRAS2.19
144Classic pyoderma gangrenosumEnrichmentPTPN62.19
145Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.19
146Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.19
147Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK12.19
148Eccrine angiomatous hamartomaEnrichmentPIK3CA2.19
149Egf-related primary hypomagnesemia with intellectual disabilityEnrichmentEGF2.19
150Macrodactyly of toeEnrichmentPIK3CA2.19
151Neurocutaneous melanocytosisEnrichmentNRAS2.19
152Akt2-related familial partial lipodystrophyEnrichmentAKT22.19
153Malignant astrocytomaEnrichmentPTPN112.19
154Arteriovenous malformations of the brainEnrichmentEGFR, KRAS2.18
155Diffuse large b-cell lymphomaEnrichmentSOCS1, STAT32.18
156MicrocephalyEnrichmentABL1, IGF1R, MAPK1, PTPN112.08
157Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN111.91
158Scoliosis, isolated 1EnrichmentMAPK71.89
159Costello syndromeEnrichmentHRAS1.89
160Hemangiopericytoma, malignantEnrichmentSTAT61.89
161Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B1.89
162West nile virusEnrichmentCCR51.89
163Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA1.89
164Inflammatory bowel disease 28, autosomal recessiveEnrichmentIL10RA1.89
165Keratosis, seborrheicEnrichmentPIK3CA1.89
166Encephalocraniocutaneous lipomatosisEnrichmentKRAS1.89
167Neutrophilia, hereditaryEnrichmentCSF3R1.89
168Maturity-onset diabetes of the young, type 11EnrichmentBLK1.89
169Noonan syndrome 8EnrichmentPIK3CA1.89
170Thrombocythemia 3EnrichmentJAK21.89
171Neutropenia, severe congenital, 7, autosomal recessiveEnrichmentCSF3R1.89
172Dystonia 30EnrichmentPTPRA1.89
173Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.89
174Werner syndromeEnrichmentPTPN111.89
175Cebalid syndromeEnrichmentMTOR1.89
176Immunodeficiency 56EnrichmentIL21R1.89
177Senior-loken syndrome 7EnrichmentAKT31.89
178Rosette-forming glioneuronal tumorEnrichmentPIK3CA1.89
179Inflammatory bowel disease 28EnrichmentIL10RA1.89
180Severe congenital neutropenia 7EnrichmentCSF3R1.89
181Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK11.89
182Multiple sclerosis 3EnrichmentIL7R1.89
183Bardet-biedl syndrome 16EnrichmentAKT31.89
184Smith-kingsmore syndromeEnrichmentMTOR1.89
185PolycythemiaEnrichmentJAK21.89
186Hypereosinophilic syndromeEnrichmentJAK21.89
187Tafro syndromeEnrichmentMAP2K21.89
188Laron syndrome with immunodeficiencyEnrichmentSTAT5B1.89
189Wooly hair nevusEnrichmentHRAS1.89
190Severe covid-19EnrichmentIL10RB, JAK31.82
191Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK31.71
192Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT31.71
193Immune thrombocytopeniaEnrichmentSOCS11.71
194Polycythemia veraEnrichmentJAK21.71
195Pompe disease, infantile-onsetEnrichmentPIK3CA1.71
196Leukoencephalopathy, hereditary diffuse, with spheroids 1EnrichmentCSF1R1.71
197Stuve-wiedemann syndrome 1EnrichmentIL6ST1.71
198Hepatitis c virusEnrichmentCCR51.71
199Neutrophilic dermatosis, acute febrileEnrichmentPTPN61.71
200Neonatal nephrocutaneous inflammatory syndromeEnrichmentEGFR1.71
201Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R11.71
202Autoinflammatory syndrome, familial, with or without immunodeficiencyEnrichmentSOCS11.71
203Hyper ige syndromeEnrichmentSTAT31.71
204Inflammatory bowel disease 25EnrichmentIL10RB1.71
205Immunodeficiency 14EnrichmentPIK3R11.71
206T-cell acute lymphoblastic leukemiaEnrichmentABL11.71
207Immunodeficiency 44EnrichmentSTAT21.71
208Immunodeficiency, common variable, 11EnrichmentIL211.71
209SpermatocytomaEnrichmentHRAS1.71
210Growth delay due to insulin-like growth factor i resistanceEnrichmentIGF1R1.71
211Neonatal inflammatory skin and bowel diseaseEnrichmentEGFR1.71
212Tricuspid valve insufficiencyEnrichmentPTPN111.71
213Stüve-wiedemann syndromeEnrichmentIL6ST1.71
214KeratoacanthomaEnrichmentPIK3CA1.71
215Erythrocytosis, familial, 1EnrichmentJAK21.59
216Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS1.59
217Anemia, autoimmune hemolyticEnrichmentSOCS11.59
218Budd-chiari syndromeEnrichmentJAK21.59
219Neurofibromatosis-noonan syndromeEnrichmentMAP2K21.59
220Chromosome 22q11.2 deletion syndrome, distalEnrichmentMAPK11.59
221Focal cortical dysplasia, type iiEnrichmentMTOR1.59
222Lung sarcomatoid carcinomaEnrichmentKRAS1.59
223Hepatitis bEnrichmentIL10RB1.59
224Cerebrovascular diseaseEnrichmentPIK3CA1.59
225Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentPTPN111.59
226Pilocytic astrocytomaEnrichmentKRAS1.59
227Epidermolytic nevusEnrichmentHRAS1.59
228Familial cerebral cavernous malformationsEnrichmentPIK3CA1.59
229Adenosine deaminase deficiencyEnrichmentJAK31.59
230Pediatric systemic lupus erythematosusEnrichmentSTAT41.59
231Isolated focal cortical dysplasia type iiEnrichmentMTOR1.59
232Gastric cancerEnrichmentKRAS, PIK3CA1.50
233Capillary malformations, congenitalEnrichmentPIK3CA1.49
234Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK31.49
235Insulin-like growth factor iEnrichmentIGF1R1.49
236LymphomaEnrichmentPTPN111.49
237Myeloproliferative neoplasmEnrichmentJAK21.49
238Klippel-trenaunay-weber syndromeEnrichmentPIK3CA1.42
239Hemihyperplasia, isolatedEnrichmentPIK3CA1.42
240Inflammatory bowel disease 25, autosomal recessiveEnrichmentIL10RB1.42
241Patent ductus arteriosusEnrichmentPTPN111.42
242Chronic mucocutaneous candidiasisEnrichmentSTAT11.42
243ThrombocytopeniaEnrichmentPTPN11, SRC1.41
244Squamous cell carcinoma, head and neckEnrichmentEGFR1.35
245Renal cell carcinoma, papillary, 1EnrichmentMTOR1.35
246Essential thrombocythemiaEnrichmentJAK21.35
247MegacolonEnrichmentAKT31.35
248Moyamoya angiopathyEnrichmentABL11.35
249B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL11.35
250Severe congenital neutropeniaEnrichmentCSF3R1.29
251Permanent neonatal diabetes mellitusEnrichmentSTAT31.29
252Leukemia, acute lymphoblastic 3EnrichmentJAK21.24
253Atypical chronic myeloid leukemia, bcr-abl1 negativeEnrichmentCSF3R1.24
254Primary biliary cholangitisEnrichmentIL12RB11.24
255Omenn syndromeEnrichmentIL7R1.20
256PolymicrogyriaEnrichmentAKT31.20
257Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.20
258Pectus excavatumEnrichmentPTPN111.16
259Frontotemporal dementia 1EnrichmentCSF1R1.16
260IchthyosisEnrichmentIL2RB1.16
261EpicanthusEnrichmentPTPN111.12
262Congenital long qt syndromeEnrichmentPTPN111.12
263Alzheimer's diseaseEnrichmentCSF1R1.09
264Protein-deficiency anemiaEnrichmentNRAS1.09
265OsteoporosisEnrichmentSRC1.06
266Heart diseaseEnrichmentABL11.06
267Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.03
268Rare genetic intellectual disabilityEnrichmentMTOR1.03
269RhabdomyosarcomaEnrichmentHRAS1.00
270GliosarcomaEnrichmentEGFR1.00
271Alzheimer disease, familial, 1EnrichmentCSF1R0.98
272Giant cell glioblastomaEnrichmentEGFR0.98
273Heart, malformation ofEnrichmentMAPK10.96
274Patent foramen ovaleEnrichmentPTPN110.96
275Maturity-onset diabetes of the youngEnrichmentBLK0.91
276CraniosynostosisEnrichmentIL11RA0.91
277Endometrial cancerEnrichmentPIK3CA0.89
278Hepatocellular carcinomaEnrichmentPIK3CA0.87
279Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL10.86
280Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF10.84
281ScoliosisEnrichmentPTPN110.84
282Pancreatic cancerEnrichmentKRAS0.82
283Autism spectrum disorderEnrichmentMAP2K1, PTPN110.80
284StrabismusEnrichmentPTPN110.79
285Prostate cancerEnrichmentPIK3CA0.76
286Long qt syndrome 1EnrichmentPTPN110.75
287Familial hypertrophic cardiomyopathyEnrichmentRAF10.71
288NephronophthisisEnrichmentPIAS10.71
289Left ventricular noncompactionEnrichmentRAF10.69
290Inherited cancer-predisposing syndromeEnrichmentEGFR, PTPN110.68
291Type 2 diabetes mellitusEnrichmentAKT20.62
292Hypertrophic cardiomyopathyEnrichmentPTPN110.61
293HypertelorismEnrichmentPIK3CA0.54
294Familial isolated dilated cardiomyopathyEnrichmentRAF10.53
295Hereditary breast ovarian cancer syndromeEnrichmentKRAS0.52
296Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.51
297Frontotemporal dementia and/or amyotrophic lateral sclerosis 7EnrichmentCSF1R0.50
298Primary ovarian insufficiencyEnrichmentJAK20.50
299Dilated cardiomyopathyEnrichmentRAF10.39

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