Signaling by Erythropoietin

Pathway network for the Signaling by Erythropoietin SuperPath

Sources:
  • Reactome
  • PubChem

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

Disorders associated with Signaling by Erythropoietin SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Nevus, epidermalEnrichmentHRAS, KRAS, NRAS, PIK3CA9.49
2Noonan syndrome and noonan-related syndromeEnrichmentHRAS, KRAS, NRAS, SOS19.01
3Lung non-small cell carcinomaEnrichmentHRAS, KRAS, NRAS, PIK3CA8.53
4Schimmelpenning-feuerstein-mims syndromeEnrichmentHRAS, KRAS, NRAS8.45
5Noonan syndrome 1EnrichmentHRAS, KRAS, NRAS, SOS18.21
6RasopathyEnrichmentHRAS, KRAS, NRAS, SOS17.98
7Noonan syndrome 3EnrichmentHRAS, KRAS, SOS17.51
8Erythrocytosis, familial, 1EnrichmentEPOR, JAK2, SH2B37.36
9Ras-associated autoimmune leukoproliferative disorderEnrichmentKRAS, NRAS6.00
10Congenital lipomatous overgrowth, vascular malformations, and epidermal neviEnrichmentPIK3CA, PIK3R15.67
11Immunodeficiency 14a with lymphoproliferation, autosomal dominantEnrichmentPIK3CD, PIK3R15.67
12Immunodeficiency 14EnrichmentPIK3CD, PIK3R15.67
13Large congenital melanocytic nevusEnrichmentHRAS, NRAS5.53
14Differentiated thyroid carcinomaEnrichmentHRAS, KRAS, NRAS5.50
15Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentKRAS, NRAS5.23
16Leukemia, acute myeloidEnrichmentJAK2, KRAS, NRAS5.07
17Bladder cancerEnrichmentHRAS, KRAS, PIK3CA4.71
18Thyroid cancer, nonmedullary, 2EnrichmentHRAS, NRAS4.68
19Leukemia, chronic myeloidEnrichmentKRAS, NRAS4.68
20Follicular thyroid carcinomaEnrichmentHRAS, NRAS4.68
21Melanocytic nevus syndrome, congenitalEnrichmentHRAS, NRAS4.56
22Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemiaEnrichmentCBL, PTPN114.52
23Autosomal non-syndromic agammaglobulinemiaEnrichmentPIK3CD, PIK3R14.49
24Breast adenocarcinomaEnrichmentKRAS, PIK3CA4.31
25Lung squamous cell carcinomaEnrichmentKRAS, PIK3CA4.31
26Myeloproliferative neoplasmEnrichmentCBL, JAK24.30
27Juvenile myelomonocytic leukemiaEnrichmentKRAS, NRAS4.19
28Capillary malformation-arteriovenous malformation 1EnrichmentKRAS, PIK3CA4.17
29Gallbladder cancerEnrichmentKRAS, PIK3CA4.17
30MyelofibrosisEnrichmentJAK2, SH2B33.98
31Essential thrombocythemiaEnrichmentJAK2, SH2B33.98
32Arteriovenous malformationEnrichmentHRAS, PIK3CA3.93
33Myopathy, x-linked, with excessive autophagyEnrichmentHRAS, PIK3CA3.84
34Lip and oral cavity carcinomaEnrichmentHRAS, PIK3CA3.67
35Lynch syndromeEnrichmentKRAS, PIK3CA3.47
36Breast cancerEnrichmentKRAS, PIK3CA, SHC13.47
37Non-immune hydrops fetalisEnrichmentHRAS, KRAS3.34
38Microvascular complications of diabetes 2EnrichmentEPO3.29
39Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominantEnrichmentSTAT5B3.29
40Erythrocytosis, familial, 5EnrichmentEPO3.29
41Autoinflammatory disease, systemic, with vasculitisEnrichmentLYN3.29
42Immune dysregulation, autoimmunity, and autoinflammationEnrichmentPLCG13.29
43Autoinflammation, antibody deficiency, and immune dysregulationEnrichmentPLCG23.29
44Familial cold autoinflammatory syndrome 3EnrichmentPLCG23.29
45Colorectal cancerEnrichmentNRAS, PIK3CA, PIK3R13.28
46RhabdomyosarcomaEnrichmentCBL, HRAS3.23
47MacrodactylyEnrichmentPIK3CA3.05
48Deafness, autosomal recessive 26EnrichmentGAB13.05
49Megalencephaly, autosomal dominantEnrichmentPIK3CA3.05
50Cowden syndrome 5EnrichmentPIK3CA3.05
51Ataxia-oculomotor apraxia 3EnrichmentPIK3R53.05
52Cerebral cavernous malformations 4EnrichmentPIK3CA3.05
53Short syndromeEnrichmentPIK3R13.05
54Hemifacial myohyperplasiaEnrichmentPIK3CA3.05
55Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowthEnrichmentPIK3CA3.05
56Immunodeficiency 36 with lymphoproliferationEnrichmentPIK3R13.05
57Immunodeficiency 14b, autosomal recessiveEnrichmentPIK3CD3.05
58Agammaglobulinemia 7, autosomal recessiveEnrichmentPIK3R13.05
59Immunodeficiency 97 with autoinflammationEnrichmentPIK3CG3.05
60Segmental progressive overgrowth syndrome with fibroadipose hyperplasiaEnrichmentPIK3CA3.05
61HypospadiasEnrichmentPIK3CA3.05
62Rare venous malformationEnrichmentPIK3CA3.05
63Diaphragmatic eventrationEnrichmentPIK3CA3.05
64Pik3ca-related overgrowth spectrumEnrichmentPIK3CA3.05
65Rare combined vascular malformationEnrichmentPIK3CA3.05
66Cavernous lymphangiomaEnrichmentPIK3CA3.05
67Pik3ca-related overgrowth syndromeEnrichmentPIK3CA3.05
68Hemihyperplasia-multiple lipomatosis syndromeEnrichmentPIK3CA3.05
69Eccrine angiomatous hamartomaEnrichmentPIK3CA3.05
70Macrodactyly of toeEnrichmentPIK3CA3.05
71Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessiveEnrichmentSTAT5B2.99
72Thrombocythemia 3EnrichmentJAK22.99
73Diamond-blackfan anemia-likeEnrichmentEPO2.99
74PolycythemiaEnrichmentJAK22.99
75Hypereosinophilic syndromeEnrichmentJAK22.99
76Laron syndrome with immunodeficiencyEnrichmentSTAT5B2.99
77Oculoectodermal syndromeEnrichmentKRAS2.99
78Noonan syndrome 4EnrichmentSOS12.99
79Melanosis, neurocutaneousEnrichmentNRAS2.99
80Noonan syndrome 6EnrichmentNRAS2.99
81Cardiofaciocutaneous syndrome 2EnrichmentKRAS2.99
82Congenital pulmonary airway malformationEnrichmentKRAS2.99
83Phakomatosis pigmentokeratoticaEnrichmentHRAS2.99
84Neurocutaneous melanocytosisEnrichmentNRAS2.99
85Polycythemia veraEnrichmentJAK22.81
86Primary polycythemiaEnrichmentEPOR2.81
87Breast implant-associated anaplastic large cell lymphomaEnrichmentJAK22.81
88Lung cancerEnrichmentKRAS, PIK3CA2.81
89Hydrops fetalis, nonimmuneEnrichmentHRAS, PTPN112.80
90Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2EnrichmentPIK3R52.75
91Keratosis, seborrheicEnrichmentPIK3CA2.75
92Roifman-chitayat syndromeEnrichmentPIK3CD2.75
93Noonan syndrome 8EnrichmentPIK3CA2.75
94Rosette-forming glioneuronal tumorEnrichmentPIK3CA2.75
95Immune system diseaseEnrichmentPIK3CD2.75
96Budd-chiari syndromeEnrichmentJAK22.69
97Fibromatosis, gingival, 1EnrichmentSOS12.69
98Costello syndromeEnrichmentHRAS2.69
99Pulmonic stenosisEnrichmentSOS12.69
100Encephalocraniocutaneous lipomatosisEnrichmentKRAS2.69
101Wooly hair nevusEnrichmentHRAS2.69
102MetachondromatosisEnrichmentPTPN112.64
103Dermatitis, atopic, 4EnrichmentSOCS32.64
104Leopard syndrome 1EnrichmentPTPN112.64
105Transient erythroblastopenia of childhoodEnrichmentTEC2.64
106Isolated growth hormone deficiency type iiiEnrichmentBTK2.64
107Immunodeficiency 31aEnrichmentSTAT12.64
108Immunodeficiency 31bEnrichmentSTAT12.64
109Vegetative pyoderma gangrenosumEnrichmentPTPN62.64
110Bullous pyoderma gangrenosumEnrichmentPTPN62.64
111Pustular pyoderma gangrenosumEnrichmentPTPN62.64
112Growth retardation-mild developmental delay-chronic hepatitis syndromeEnrichmentSH2B32.64
113Classic pyoderma gangrenosumEnrichmentPTPN62.64
114Malignant astrocytomaEnrichmentPTPN112.64
115Pompe disease, infantile-onsetEnrichmentPIK3CA2.58
116KeratoacanthomaEnrichmentPIK3CA2.58
117Gastric cancerEnrichmentKRAS, PIK3CA2.55
118Hereditary breast carcinomaEnrichmentKRAS, PIK3CA2.53
119Autosomal dominant secondary polycythemiaEnrichmentEPO2.51
120Nuchal bleb, familialEnrichmentSOS12.51
121Langerhans cell histiocytosisEnrichmentNRAS2.51
122SpermatocytomaEnrichmentHRAS2.51
123Megalencephaly-capillary malformation-polymicrogyria syndromeEnrichmentPIK3CA2.45
124Cerebrovascular diseaseEnrichmentPIK3CA2.45
125Familial cerebral cavernous malformationsEnrichmentPIK3CA2.45
126Cardiofaciocutaneous syndrome 1EnrichmentKRAS2.38
127Diffuse gastric and lobular breast cancer syndromeEnrichmentKRAS2.38
128Chromosome 22q11.2 deletion syndrome, distalEnrichmentCRKL2.38
129Cardiofaciocutaneous syndromeEnrichmentKRAS2.38
130Lung sarcomatoid carcinomaEnrichmentKRAS2.38
131Pilocytic astrocytomaEnrichmentKRAS2.38
132Epidermolytic nevusEnrichmentHRAS2.38
133Gingival fibromatosisEnrichmentSOS12.38
134Capillary malformations, congenitalEnrichmentPIK3CA2.35
135HemimegalencephalyEnrichmentPIK3CA2.35
136Ovarian germ cell cancerEnrichmentCBL2.34
137Isolated growth hormone deficiency, type iii, with agammaglobulinemiaEnrichmentBTK2.34
138Immunodeficiency, common variable, 12, with autoimmunityEnrichmentNFKB12.34
139Immunodeficiency 31cEnrichmentSTAT12.34
140Agammaglobulinemia, x-linkedEnrichmentBTK2.34
141Werner syndromeEnrichmentPTPN112.34
142Intravascular large b-cell lymphomaEnrichmentBCL22.34
143Malignant germ cell tumor of ovaryEnrichmentCBL2.34
144Common variable immunodeficiency 12EnrichmentNFKB12.34
145Leukemia, acute lymphoblastic 3EnrichmentJAK22.33
146Klippel-trenaunay-weber syndromeEnrichmentPIK3CA2.28
147Cowden syndrome 1EnrichmentPIK3CA2.28
148Hemihyperplasia, isolatedEnrichmentPIK3CA2.28
149Overgrowth syndromeEnrichmentPIK3R12.21
150Acute promyelocytic leukemiaEnrichmentSTAT5B2.17
151Thrombocythemia 1EnrichmentSH2B32.16
152Agammaglobulinemia 1, autosomal recessiveEnrichmentBTK2.16
153Neutrophilic dermatosis, acute febrileEnrichmentPTPN62.16
154Agammaglobulinemia 1EnrichmentBTK2.16
155High-grade b-cell lymphoma double-hit/triple-hitEnrichmentBCL22.16
156Tricuspid valve insufficiencyEnrichmentPTPN112.16
157Pilomyxoid astrocytomaEnrichmentKRAS2.14
158Adult hepatocellular carcinomaEnrichmentPIK3CA2.10
159Cowden syndromeEnrichmentPIK3CA2.10
160Noonan syndrome with multiple lentiginesEnrichmentPTPN112.04
161MeningiomaEnrichmentPIK3CA1.98
162Follicular lymphomaEnrichmentBCL21.94
163LymphomaEnrichmentPTPN111.94
164Aggressive systemic mastocytosisEnrichmentCBL1.94
165Nk-cell enteropathyEnrichmentPIK3CB1.94
166Aortic valve disease 1EnrichmentSOS11.87
167Protein-deficiency anemiaEnrichmentNRAS1.87
168Patent ductus arteriosusEnrichmentPTPN111.87
169Chronic mucocutaneous candidiasisEnrichmentSTAT11.87
170Lung cancer susceptibility 3EnrichmentKRAS1.84
17146,xy partial gonadal dysgenesisEnrichmentSOS11.84
172Ovarian cancerEnrichmentKRAS, PIK3CA1.83
173Common variable immunodeficiencyEnrichmentNFKB11.80
174Endometrial cancerEnrichmentPIK3CA1.73
175Hepatocellular carcinomaEnrichmentPIK3CA1.71
176Arteriovenous malformations of the brainEnrichmentKRAS1.71
177Type 2 diabetes mellitusEnrichmentIRS21.67
178Ciliary dyskinesia, primary, 3EnrichmentNFKB11.65
179Pectus excavatumEnrichmentPTPN111.60
180Specific learning disabilityEnrichmentPTPN111.60
181Prostate cancerEnrichmentPIK3CA1.60
182Pancreatic cancerEnrichmentKRAS1.59
183EpicanthusEnrichmentPTPN111.57
184Congenital long qt syndromeEnrichmentPTPN111.57
185Primary ovarian insufficiencyEnrichmentJAK21.52
186Inherited cancer-predisposing syndromeEnrichmentPTPN11, SH2B31.44
187Patent foramen ovaleEnrichmentPTPN111.39
188Diffuse large b-cell lymphomaEnrichmentBTK1.37
189HypertelorismEnrichmentPIK3CA1.35
190ScoliosisEnrichmentPTPN111.27
191Hereditary breast ovarian cancer syndromeEnrichmentKRAS1.26
192Myeloma, multipleEnrichmentKRAS1.25
193StrabismusEnrichmentPTPN111.22
194Long qt syndrome 1EnrichmentPTPN111.18
195Hypertrophic cardiomyopathyEnrichmentPTPN111.03
196ThrombocytopeniaEnrichmentPTPN110.98
197Male infertility with azoospermia or oligozoospermia due to single gene mutationEnrichmentPTPN110.92
198Autism spectrum disorderEnrichmentPTPN110.65
199MicrocephalyEnrichmentPTPN110.61

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