IL2 signaling events mediated by STAT5

Pathway network for the IL2 signaling events mediated by STAT5 SuperPath

Sources:
  • PubChem
  • Reactome

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

Disorders associated with IL2 signaling events mediated by STAT5 SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Noonan syndrome and noonan-related syndromeEnrichmentMAP2K1, PTPN11, RAF1, SOS16.89
2Noonan syndrome 1EnrichmentMAP2K1, PTPN11, RAF1, SOS16.09
3Capillary malformation-arteriovenous malformation 1EnrichmentMAP2K1, PIK3CA, RASA15.96
4Noonan syndrome 3EnrichmentPTPN11, RAF1, SOS15.96
5RasopathyEnrichmentMAP2K1, PTPN11, RAF1, SOS15.86
6Arteriovenous malformationEnrichmentMAP2K1, PIK3CA, RASA15.58
7MeningiomaEnrichmentAKT1, PIK3CA, TERT5.47
8Myopathy, x-linked, with excessive autophagyEnrichmentMAP2K1, PIK3CA, RASA15.42
9Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R14.85
10High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL2, MYC4.85
11Oligoarticular juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB4.82
12Rheumatoid factor-negative juvenile idiopathic arthritisEnrichmentIL2RA, IL2RB4.82
13Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK1, STAT34.51
14Breast cancerEnrichmentAKT1, IL2, PIK3CA, SHC14.40
15Noonan syndrome with multiple lentiginesEnrichmentPTPN11, RAF14.21
16HemimegalencephalyEnrichmentMTOR, PIK3CA4.19
17Breast adenocarcinomaEnrichmentAKT1, PIK3CA4.02
18Capillary malformations, congenitalEnrichmentPIK3CA, RASA13.99
19Overgrowth syndromeEnrichmentMTOR, PIK3R13.87
20Klippel-trenaunay-weber syndromeEnrichmentPIK3CA, RASA13.82
21Hemihyperplasia, isolatedEnrichmentPIK3CA, RHOA3.82
22Cowden syndromeEnrichmentAKT1, PIK3CA3.64
23Severe combined immunodeficiencyEnrichmentJAK3, LCK3.43
24Lung non-small cell carcinomaEnrichmentMAP2K1, PIK3CA3.26
25Acute promyelocytic leukemiaEnrichmentSTAT3, STAT5B3.11
26Type 1 diabetes mellitus 10EnrichmentIL2RA3.05
27Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B3.05
28Immunodeficiency 82 with systemic inflammationEnrichmentSYK3.05
29Immunodeficiency 63 with lymphoproliferation and autoimmunityEnrichmentIL2RB3.05
30Immunodeficiency 22EnrichmentLCK3.05
31T-b+ severe combined immunodeficiency due to jak3 deficiencyEnrichmentJAK33.05
32ColitisEnrichmentSYK3.05
33Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiencyEnrichmentJAK13.05
34Colorectal cancerEnrichmentAKT1, PIK3CA, PIK3R12.84
35Hepatocellular carcinomaEnrichmentPIK3CA, TERT2.84
36Precursor t-cell acute lymphoblastic leukemiaEnrichmentMYB, MYC2.80
37Diffuse large b-cell lymphomaEnrichmentSOCS1, STAT32.77
38Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B2.75
39Immunodeficiency 41 with lymphoproliferation and autoimmunityEnrichmentIL2RA2.75
40Autoinflammation, immune dysregulation, and eosinophiliaEnrichmentJAK12.75
41ArthritisEnrichmentSYK2.75
42Laron syndrome with immunodeficiencyEnrichmentSTAT5B2.75
43MacrodactylyEnrichmentPIK3CA2.66
44MetachondromatosisEnrichmentPTPN112.66
45Hemophagocytic lymphohistiocytosis, familial, 2EnrichmentPRF12.66
46Immunodysregulation, polyendocrinopathy, and enteropathy, x-linkedEnrichmentFOXP32.66
47Noonan syndrome 4EnrichmentSOS12.66
48Leprosy 4EnrichmentLTA2.66
49Megalencephaly, autosomal dominantEnrichmentPIK3CA2.66
50Leopard syndrome 1EnrichmentPTPN112.66
51Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3EnrichmentCCND22.66
52Cowden syndrome 5EnrichmentPIK3CA2.66
53Microcephaly 12, primary, autosomal recessiveEnrichmentCDK62.66
54Cerebral cavernous malformations 4EnrichmentPIK3CA2.66
55Short syndromeEnrichmentPIK3R12.66
56Hemifacial myohyperplasiaEnrichmentPIK3CA2.66
57Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA2.66
58Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R12.66
59Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R12.66
60Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA2.66
61HypospadiasEnrichmentPIK3CA2.66
62Rare venous malformationEnrichmentPIK3CA2.66
63Diaphragmatic eventrationEnrichmentPIK3CA2.66
64Pik3ca-related overgrowth spectrumEnrichmentPIK3CA2.66
65Rare combined vascular malformationEnrichmentPIK3CA2.66
66Cavernous lymphangiomaEnrichmentPIK3CA2.66
67Pik3ca-related overgrowth syndromeEnrichmentPIK3CA2.66
68Fatal post-viral neurodegenerative disorderEnrichmentPRF12.66
69Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA2.66
70Eccrine angiomatous hamartomaEnrichmentPIK3CA2.66
71Macrodactyly of toeEnrichmentPIK3CA2.66
72Malignant astrocytomaEnrichmentPTPN112.66
73Lung cancerEnrichmentFASLG, PIK3CA2.65
74Bladder cancerEnrichmentPIK3CA, TERT2.60
75Proteus syndromeEnrichmentAKT12.59
76Cowden syndrome 6EnrichmentAKT12.59
77Acid sphingomyelinase deficiencyEnrichmentSMPD12.59
78Autosomal recessive dyskeratosis congenita 4EnrichmentTERT2.59
79Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromEnrichmentRAC12.59
80Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiencyEnrichmentJAK32.58
81Severe combined immunodeficiency, x-linkedEnrichmentIL2RG2.58
82Combined immunodeficiency, x-linkedEnrichmentIL2RG2.58
83Cystic angiomatosis of bone, diffuseEnrichmentRASA12.49
84Noonan syndrome 5EnrichmentRAF12.49
85Melorheostosis, isolatedEnrichmentMAP2K12.49
86Dermatitis, atopic, 4EnrichmentSOCS32.49
87Cardiomyopathy, dilated, 1nnEnrichmentRAF12.49
88Cardiofaciocutaneous syndrome 3EnrichmentMAP2K12.49
89Immunodeficiency 69EnrichmentIFNG2.49
90T-cell large granular lymphocyte leukemiaEnrichmentSTAT32.49
91MelorheostosisEnrichmentMAP2K12.49
92Leopard syndrome 2EnrichmentRAF12.49
93Immunodeficiency 31aEnrichmentSTAT12.49
94Immunodeficiency 31bEnrichmentSTAT12.49
95Autoimmune disease, multisystem, infantile-onset, 1EnrichmentSTAT32.49
96Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomaliesEnrichmentRHOA2.49
97Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomaliesEnrichmentRHOA2.49
98TrigonitisEnrichmentRAF12.49
99Stat3-related early-onset multisystem autoimmune diseaseEnrichmentSTAT32.49
100Gorham's diseaseEnrichmentRASA12.49
101Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to aiolos deficiencyEnrichmentIKZF32.49
102Chronic lymphoproliferative disorder of natural killer cellsEnrichmentSTAT32.49
103Adenosine deaminase deficiencyEnrichmentJAK32.45
104Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negativeEnrichmentJAK32.35
105Burkitt lymphomaEnrichmentMYC2.35
106Fibromatosis, gingival, 1EnrichmentSOS12.35
107Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephalyEnrichmentFOXP32.35
108Pulmonic stenosisEnrichmentSOS12.35
109Keratosis, seborrheicEnrichmentPIK3CA2.35
110Noonan syndrome 8EnrichmentPIK3CA2.35
111Werner syndromeEnrichmentPTPN112.35
112Intravascular large b-cell lymphomaEnrichmentBCL22.35
113Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.35
114Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1EnrichmentTERT2.29
115Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.29
116Intellectual developmental disorder, autosomal dominant 48EnrichmentRAC12.29
117Autoinflammatory disease, familial, behcet-like 3EnrichmentRELA2.29
118Cebalid syndromeEnrichmentMTOR2.29
119Rela fusion-positive ependymomaEnrichmentRELA2.29
120Acute basophilic leukemiaEnrichmentMYB2.29
121Angiocentric gliomaEnrichmentMYB2.29
122Melanoma, cutaneous malignant 9EnrichmentTERT2.29
123Smith-kingsmore syndromeEnrichmentMTOR2.29
124Idiopathic interstitial pneumoniaEnrichmentTERT2.29
125Joint contractures, osteochondromas, and b-cell lymphomaEnrichmentNFATC22.29
126Common variable immunodeficiency 12EnrichmentNFKB12.29
127Hereditary breast carcinomaEnrichmentAKT1, PIK3CA2.24
128Immunodeficiency 31cEnrichmentSTAT12.19
129Pompe disease, infantile-onsetEnrichmentPIK3CA2.18
130Immunodeficiency 98 with autoinflammation, x-linkedEnrichmentFASLG2.18
131Nuchal bleb, familialEnrichmentSOS12.18
132Psoriatic arthritisEnrichmentLTA2.18
133Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3R12.18
134Immunodeficiency 14EnrichmentPIK3R12.18
135Tricuspid valve insufficiencyEnrichmentPTPN112.18
136KeratoacanthomaEnrichmentPIK3CA2.18
137Niemann-pick disease, type aEnrichmentSMPD12.11
138Niemann-pick disease, type bEnrichmentSMPD12.11
139Ceroid lipofuscinosis, neuronal, 6aEnrichmentSMPD12.11
140Interstitial lung diseaseEnrichmentTERT2.11
141Macrocytic anemiaEnrichmentTERT2.11
142Adenoid cystic carcinomaEnrichmentMYB2.11
143Omenn syndromeEnrichmentIL2RG2.05
144Autoimmune lymphoproliferative syndromeEnrichmentFASLG2.05
145Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA2.05
146Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1EnrichmentCCND22.05
147Cerebrovascular diseaseEnrichmentPIK3CA2.05
148Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentPTPN112.05
149Familial cerebral cavernous malformationsEnrichmentPIK3CA2.05
150Gingival fibromatosisEnrichmentSOS12.05
151Immune deficiency diseaseEnrichmentSYK2.01
152Combined immunodeficiencyEnrichmentIL2RG2.01
153IchthyosisEnrichmentIL2RB2.01
154Combined t cell and b cell immunodeficiencyEnrichmentIL2RG2.01
155Combined t and b cell immunodeficiencyEnrichmentIL2RG2.01
156Hyper-ige syndrome 1, autosomal dominant, with recurrent infectionsEnrichmentSTAT32.01
157Immune thrombocytopeniaEnrichmentSOCS12.01
158Tuberous sclerosis 1EnrichmentIFNG2.01
159Langerhans cell histiocytosisEnrichmentMAP2K12.01
160Hepatitis c virusEnrichmentIFNG2.01
161Tuberous sclerosis 2EnrichmentIFNG2.01
162Autoinflammatory syndrome, familial, with or without immunodeficiencyEnrichmentSOCS12.01
163Immunodeficiency 84EnrichmentIKZF32.01
164Bacteremia 2EnrichmentCISH2.01
165Hyper ige syndromeEnrichmentSTAT32.01
166Wieacker-wolff syndromeEnrichmentRASA12.01
167Focal cortical dysplasia, type iiEnrichmentMTOR1.99
168Lung sarcomatoid carcinomaEnrichmentTERT1.99
169Isolated focal cortical dysplasia type iiEnrichmentMTOR1.99
170Hemophagocytic lymphohistiocytosis, familial, 1EnrichmentPRF11.96
171Follicular lymphomaEnrichmentBCL21.96
172LymphomaEnrichmentPTPN111.96
173Idiopathic aplastic anemiaEnrichmentPRF11.96
174Nk-cell enteropathyEnrichmentJAK31.94
175Niemann-pick disease, type c1EnrichmentSMPD11.89
176Niemann-pick diseaseEnrichmentSMPD11.89
177Cardiofaciocutaneous syndrome 1EnrichmentMAP2K11.89
178Anemia, autoimmune hemolyticEnrichmentSOCS11.89
179Congenital generalized lipodystrophyEnrichmentFOS1.89
180Cardiofaciocutaneous syndromeEnrichmentMAP2K11.89
181TuberculosisEnrichmentCISH1.89
182Cowden syndrome 1EnrichmentPIK3CA1.88
183Type 1 diabetes mellitusEnrichmentFOXP31.88
184Patent ductus arteriosusEnrichmentPTPN111.88
185Lung squamous cell carcinomaEnrichmentPIK3CA1.88
186Nevus, epidermalEnrichmentPIK3CA1.81
187Gallbladder cancerEnrichmentPIK3CA1.81
188Dyskeratosis congenita, autosomal dominant 1EnrichmentTERT1.81
189Pulmonary fibrosisEnrichmentTERT1.81
190Adrenocortical carcinomaEnrichmentTERT1.81
191Hoyeraal-hreidarsson syndromeEnrichmentTERT1.81
192Kidney clear cell sarcomaEnrichmentTERT1.81
193Histiocytoid hemangiomaEnrichmentFOS1.79
194Lymphoma, non-hodgkin, familialEnrichmentPRF11.76
195Renal cell carcinoma, papillary, 1EnrichmentMTOR1.75
196Dyskeratosis congenita, autosomal dominant 2EnrichmentTERT1.75
197Common variable immunodeficiencyEnrichmentNFKB11.75
198Telangiectasia, hereditary hemorrhagic, type 1EnrichmentRASA11.71
199Hemangioma, capillary infantileEnrichmentRASA11.71
200Basal cell carcinoma 1EnrichmentRASA11.71
201Chronic mucocutaneous candidiasisEnrichmentSTAT11.71
202Adult hepatocellular carcinomaEnrichmentPIK3CA1.70
203Hydrops fetalisEnrichmentFOXP31.70
204Aplastic anemiaEnrichmentPRF11.66
205Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3R11.66
206Hereditary hemorrhagic telangiectasiaEnrichmentRASA11.65
207Pilomyxoid astrocytomaEnrichmentRAF11.65
208Neurodevelopmental disorder with dysmorphic facies and distal limb anomaliesEnrichmentRAC11.64
209Pectus excavatumEnrichmentPTPN111.62
210Specific learning disabilityEnrichmentPTPN111.62
211Severe covid-19EnrichmentJAK31.60
212Ciliary dyskinesia, primary, 3EnrichmentNFKB11.59
213Melanocytic nevus syndrome, congenitalEnrichmentRAF11.59
214Permanent neonatal diabetes mellitusEnrichmentSTAT31.59
215EpicanthusEnrichmentPTPN111.58
216Juvenile myelomonocytic leukemiaEnrichmentPTPN111.58
217Lip and oral cavity carcinomaEnrichmentPIK3CA1.58
218Congenital long qt syndromeEnrichmentPTPN111.58
219Ovarian cancerEnrichmentAKT1, PIK3CA1.56
220Aortic valve disease 1EnrichmentSOS11.55
22146,xy partial gonadal dysgenesisEnrichmentSOS11.52
222Leukemia, chronic lymphocyticEnrichmentIKZF31.50
223Lynch syndromeEnrichmentPIK3CA1.49
224Chromosome 1p36 deletion syndromeEnrichmentPRKCZ1.48
225Renal cell carcinoma, nonpapillaryEnrichmentMTOR1.42
226Rare genetic intellectual disabilityEnrichmentMTOR1.42
227Patent foramen ovaleEnrichmentPTPN111.41
228Melanoma, cutaneous malignant 1EnrichmentTERT1.37
229Interstitial lung disease 2EnrichmentTERT1.37
230Endometrial cancerEnrichmentPIK3CA1.34
231Centronuclear myopathyEnrichmentFOXP31.34
232Myocardial infarctionEnrichmentLTA1.32
233Dyskeratosis congenitaEnrichmentTERT1.32
234Autism spectrum disorderEnrichmentMAP2K1, PTPN111.31
235Autoinflammatory diseaseEnrichmentPRF11.29
236ScoliosisEnrichmentPTPN111.29
237Cardiomyopathy, dilated, 1aEnrichmentNFATC21.28
238HepatoblastomaEnrichmentTERT1.28
239Hydrops fetalis, nonimmuneEnrichmentPTPN111.25
240Human immunodeficiency virus type 1EnrichmentIFNG1.25
241StrabismusEnrichmentPTPN111.24
242Prostate cancerEnrichmentPIK3CA1.21
243Long qt syndrome 1EnrichmentPTPN111.19
244Non-immune hydrops fetalisEnrichmentPTPN111.18
245Primary autosomal recessive microcephalyEnrichmentCDK61.16
246MalariaEnrichmentCISH1.14
247Differentiated thyroid carcinomaEnrichmentTERT1.14
248Cardiomyopathy, familial hypertrophic, 1EnrichmentRAF11.12
249Gastric cancerEnrichmentPIK3CA1.04
250Hypertrophic cardiomyopathyEnrichmentPTPN111.04
251Leukemia, acute myeloidEnrichmentTERT1.01
252ThrombocytopeniaEnrichmentPTPN111.00
253Familial hypertrophic cardiomyopathyEnrichmentRAF10.99
254Left ventricular noncompactionEnrichmentRAF10.97
255HypertelorismEnrichmentPIK3CA0.96
256Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.93
257Systemic lupus erythematosusEnrichmentSOCS10.92
258Type 2 diabetes mellitusEnrichmentIRS10.89
259Familial isolated dilated cardiomyopathyEnrichmentRAF10.80
260Dilated cardiomyopathyEnrichmentRAF10.64
261MicrocephalyEnrichmentPTPN110.62
262Inherited cancer-predisposing syndromeEnrichmentPTPN110.59

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