Development EPO-induced Jak-STAT pathway

Pathway network for the Development EPO-induced Jak-STAT pathway SuperPath

Sources:

GeneGo (Thomson Reuters)
PubChem
WikiPathways

Pathways in the Development EPO-induced Jak-STAT pathway SuperPath

#	Name	Source	Genes
1	Development EPO-induced Jak-STAT pathway	GeneGo (Thomson Reuters)	BCL2 BCL2L1 CALM1 CALM2 CALM3 CBL CISH CRKL EPO EPOR FES GRB2 HRAS JAK2 LYN MAP2K1 MAP2K2 MAPK1 MAPK3 MYC PIM1 PTPN11 PTPN6 RAF1 RASA1 RPS6KA5 SH2B2 SHC1 SOCS1 SOCS3 SOS1 SOS2 SRC STAT1 STAT3 STAT5A STAT5B XIAP (see all 38) (see less)
2	Signaling events mediated by Stem cell factor receptor (c-Kit)	PubChem	AKT1 BAD BCL2 CBL CREBBP CRKL DOK1 EPO EPOR FER FOXO3 GAB1 GRAP2 GRB10 GRB2 GSK3B HRAS JAK2 KIT KITLG LYN MAP2K1 MAP2K2 MAP4K1 MAPK3 MAPK8 MATK MITF PDPK1 PIK3C2B PIK3CA PIK3R1 PRRT2 PTEN PTPN11 PTPN6 PTPRO RAF1 RPS6KB1 SH2B2 SH2B3 SHC1 SNAI2 SOCS1 SOS1 SPRED1 SPRED2 STAP1 STAT1 STAT3 STAT5A TEC VAV1 (see all 53) (see less)
3	EPO receptor signaling	WikiPathways	AKT1 CISH EPO EPOR GRB2 IRS1 IRS2 JAK2 MAP2K1 MAP2K2 MAPK1 MAPK3 PDK1 PIK3CG PTPRC PTPRU RAF1 RASA1 SHC1 SOCS1 SOS1 SRC STAT1 STAT3 STAT5A STAT5B (see all 26) (see less)

Gene overlap in member pathways for Development EPO-induced Jak-STAT pathway SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	EPO	Erythropoietin	Protein Coding	3
2	EPOR	Erythropoietin Receptor	Protein Coding	3
3	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	3
4	JAK2	Janus Kinase 2	Protein Coding	3
5	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	3
6	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	3
7	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	3
8	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	3
9	SHC1	SHC Adaptor Protein 1	Protein Coding	3
10	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	3
11	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	3
12	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	3
13	STAT5A	Signal Transducer And Activator Of Transcription 5A	Protein Coding	3
14	SOCS1	Suppressor Of Cytokine Signaling 1	Protein Coding	3
15	BCL2	BCL2 Apoptosis Regulator	Protein Coding	2
16	CBL	Cbl Proto-Oncogene	Protein Coding	2
17	CISH	Cytokine Inducible SH2 Containing Protein	Protein Coding	2
18	CRKL	CRK Like Proto-Oncogene, Adaptor Protein	Protein Coding	2
19	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	2
20	LYN	LYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	2
21	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	2
22	PTPN6	Protein Tyrosine Phosphatase Non-Receptor Type 6	Protein Coding	2
23	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	2
24	RASA1	RAS P21 Protein Activator 1	Protein Coding	2
25	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	2
26	STAT5B	Signal Transducer And Activator Of Transcription 5B	Protein Coding	2
27	SH2B2	SH2B Adaptor Protein 2	Protein Coding	2
28	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	2
29	XIAP	X-Linked Inhibitor Of Apoptosis	Protein Coding	1
30	BCL2L1	BCL2 Like 1	Protein Coding	1
31	CALM1	Calmodulin 1	Protein Coding	1
32	CALM2	Calmodulin 2	Protein Coding	1
33	CALM3	Calmodulin 3	Protein Coding	1
34	FES	FES Proto-Oncogene, Tyrosine Kinase	Protein Coding	1
35	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
36	PIM1	Pim-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
37	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	1
38	SOCS3	Suppressor Of Cytokine Signaling 3	Protein Coding	1
39	RPS6KA5	Ribosomal Protein S6 Kinase A5	Protein Coding	1
40	STAP1	Signal Transducing Adaptor Family Member 1	Protein Coding	1
41	PTPRO	Protein Tyrosine Phosphatase Receptor Type O	Protein Coding	1
42	KITLG	KIT Ligand	Protein Coding	1
43	PIK3C2B	Phosphatidylinositol-4-Phosphate 3-Kinase Catalytic Subunit Type 2 Beta	Protein Coding	1
44	PRRT2	Proline Rich Transmembrane Protein 2	Protein Coding	1
45	MAP4K1	Mitogen-Activated Protein Kinase Kinase Kinase Kinase 1	Protein Coding	1
46	FER	FER Tyrosine Kinase	Protein Coding	1
47	TEC	Tec Protein Tyrosine Kinase	Protein Coding	1
48	GRAP2	GRB2 Related Adaptor Protein 2	Protein Coding	1
49	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	1
50	DOK1	Docking Protein 1	Protein Coding	1
51	MATK	Megakaryocyte-Associated Tyrosine Kinase	Protein Coding	1
52	SH2B3	SH2B Adaptor Protein 3	Protein Coding	1
53	GRB10	Growth Factor Receptor Bound Protein 10	Protein Coding	1
54	SPRED1	Sprouty Related EVH1 Domain Containing 1	Protein Coding	1
55	SPRED2	Sprouty Related EVH1 Domain Containing 2	Protein Coding	1
56	GAB1	GRB2 Associated Binding Protein 1	Protein Coding	1
57	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	1
58	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
59	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
60	VAV1	Vav Guanine Nucleotide Exchange Factor 1	Protein Coding	1
61	SNAI2	Snail Family Transcriptional Repressor 2	Protein Coding	1
62	FOXO3	Forkhead Box O3	Protein Coding	1
63	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	1
64	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	1
65	BAD	BCL2 Associated Agonist Of Cell Death	Protein Coding	1
66	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	1
67	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	1
68	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1
69	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1
70	IRS2	Insulin Receptor Substrate 2	Protein Coding	1
71	PTPRC	Protein Tyrosine Phosphatase Receptor Type C	Protein Coding	1
72	PIK3CG	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma	Protein Coding	1
73	IRS1	Insulin Receptor Substrate 1	Protein Coding	1
74	PTPRU	Protein Tyrosine Phosphatase Receptor Type U	Protein Coding	1
75	PDK1	Pyruvate Dehydrogenase Kinase 1	Protein Coding	1

Disorders associated with Development EPO-induced Jak-STAT pathway SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Rasopathy	Enrichment	CBL, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SOS2	16.00
2	Noonan syndrome and noonan-related syndrome	Enrichment	CBL, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1	11.04
3	Noonan syndrome 1	Enrichment	CBL, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1, SOS1, SPRED2	10.60
4	Noonan syndrome 3	Enrichment	HRAS, PTPN11, RAF1, SOS1	8.73
5	Erythrocytosis, familial, 1	Enrichment	EPOR, JAK2, SH2B3	6.65
6	Diffuse large b-cell lymphoma	Enrichment	CREBBP, PTEN, SOCS1, STAT3	6.11
7	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	5.95
8	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3, PTPN11	5.87
9	Arteriovenous malformation	Enrichment	HRAS, MAP2K1, RASA1	5.77
10	Waardenburg syndrome, type 2e	Enrichment	KITLG, MITF, SNAI2	5.71
11	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1, RASA1	5.62
12	Cowden syndrome	Enrichment	AKT1, PIK3CA, PTEN	5.33
13	Lung non-small cell carcinoma	Enrichment	HRAS, MAP2K1, PIK3CA	5.04
14	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK2, STAT3	4.98
15	Meningioma	Enrichment	AKT1, PIK3CA, PTEN	4.92
16	Lip and oral cavity carcinoma	Enrichment	HRAS, KIT, PIK3CA	4.92
17	Piebald trait	Enrichment	KIT, SNAI2	4.82
18	Cardiofaciocutaneous syndrome 1	Enrichment	MAP2K1, MAP2K2	4.67
19	Cardiofaciocutaneous syndrome	Enrichment	MAP2K1, MAP2K2	4.67
20	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2, MYC	4.64
21	Rhabdomyosarcoma	Enrichment	CBL, HRAS, PTEN	4.52
22	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	4.35
23	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	CRKL, MAPK1	4.34
24	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CBL, PTPN11	4.34
25	Noonan syndrome with multiple lentigines	Enrichment	PTPN11, RAF1	4.34
26	Myelofibrosis	Enrichment	JAK2, SRC	4.13
27	Capillary malformation-arteriovenous malformation 1	Enrichment	MAP2K1, RASA1	4.13
28	Myeloproliferative neoplasm	Enrichment	CBL, JAK2	4.12
29	Hemimegalencephaly	Enrichment	PIK3CA, PTEN	3.83
30	Inherited cancer-predisposing syndrome	Enrichment	KIT, MITF, PTEN, PTPN11, SH2B3	3.80
31	Bladder cancer	Enrichment	HRAS, PIK3CA, PTEN	3.72
32	Breast cancer	Enrichment	AKT1, PIK3CA, PTEN, SHC1	3.69
33	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, RAF1	3.67
34	Cowden syndrome 1	Enrichment	PIK3CA, PTEN	3.65
35	Testicular germ cell tumor	Enrichment	KIT, KITLG	3.65
36	Breast adenocarcinoma	Enrichment	AKT1, PIK3CA	3.65
37	Acute promyelocytic leukemia	Enrichment	STAT3, STAT5B	3.57
38	Nevus, epidermal	Enrichment	HRAS, PIK3CA	3.51
39	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, PTEN	3.51
40	Essential thrombocythemia	Enrichment	JAK2, SH2B3	3.51
41	Follicular thyroid carcinoma	Enrichment	HRAS, PTEN	3.51
42	Specific learning disability	Enrichment	MAPK1, PTPN11	3.38
43	Juvenile myelomonocytic leukemia	Enrichment	CBL, PTPN11	3.30
44	Ovarian cancer	Enrichment	AKT1, KIT, PIK3CA, PTEN	3.19
45	Melanoma	Enrichment	MITF, PTEN	3.18
46	Hereditary breast carcinoma	Enrichment	AKT1, PIK3CA, PTEN	3.18
47	Proteus syndrome	Enrichment	AKT1	2.72
48	Cystic angiomatosis of bone, diffuse	Enrichment	RASA1	2.72
49	Noonan syndrome 5	Enrichment	RAF1	2.72
50	Noonan syndrome 4	Enrichment	SOS1	2.72
51	Melorheostosis, isolated	Enrichment	MAP2K1	2.72
52	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.72
53	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.72
54	Microvascular complications of diabetes 2	Enrichment	EPO	2.72
55	Noonan syndrome 13	Enrichment	MAPK1	2.72
56	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	Enrichment	STAT5B	2.72
57	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	2.72
58	Melorheostosis	Enrichment	MAP2K1	2.72
59	Leopard syndrome 2	Enrichment	RAF1	2.72
60	Immunodeficiency 31a	Enrichment	STAT1	2.72
61	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.72
62	Cowden syndrome 6	Enrichment	AKT1	2.72
63	Immunodeficiency 97 with autoinflammation	Enrichment	PIK3CG	2.72
64	Immunodeficiency 31b	Enrichment	STAT1	2.72
65	Immunodeficiency 105, severe combined	Enrichment	PTPRC	2.72
66	Erythrocytosis, familial, 5	Enrichment	EPO	2.72
67	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	2.72
68	Thrombocytopenia 6	Enrichment	SRC	2.72
69	Cd45 deficiency	Enrichment	PTPRC	2.72
70	Trigonitis	Enrichment	RAF1	2.72
71	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	2.72
72	Gorham's disease	Enrichment	RASA1	2.72
73	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	2.72
74	Hydrops fetalis, nonimmune	Enrichment	HRAS, PTPN11	2.62
75	Metachondromatosis	Enrichment	PTPN11	2.55
76	Lymphoproliferative syndrome, x-linked, 2	Enrichment	XIAP	2.55
77	Dermatitis, atopic, 4	Enrichment	SOCS3	2.55
78	Leopard syndrome 1	Enrichment	PTPN11	2.55
79	Noonan syndrome 9	Enrichment	SOS2	2.55
80	Long qt syndrome 16	Enrichment	CALM3	2.55
81	Autoinflammatory disease, systemic, with vasculitis	Enrichment	LYN	2.55
82	Long qt syndrome 15	Enrichment	CALM2	2.55
83	Vegetative pyoderma gangrenosum	Enrichment	PTPN6	2.55
84	Bullous pyoderma gangrenosum	Enrichment	PTPN6	2.55
85	Pustular pyoderma gangrenosum	Enrichment	PTPN6	2.55
86	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.55
87	Classic pyoderma gangrenosum	Enrichment	PTPN6	2.55
88	Malignant astrocytoma	Enrichment	PTPN11	2.55
89	Type 2 diabetes mellitus	Enrichment	IRS1, IRS2	2.54
90	Endometrial cancer	Enrichment	PIK3CA, PTEN	2.52
91	Long qt syndrome	Enrichment	CALM1, CALM2	2.47
92	Non-immune hydrops fetalis	Enrichment	HRAS, PTPN11	2.47
93	Fibromatosis, gingival, 1	Enrichment	SOS1	2.42
94	Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive	Enrichment	STAT5B	2.42
95	Pulmonic stenosis	Enrichment	SOS1	2.42
96	Thrombocythemia 3	Enrichment	JAK2	2.42
97	Immunodeficiency 31c	Enrichment	STAT1	2.42
98	Diamond-blackfan anemia-like	Enrichment	EPO	2.42
99	Immunodeficiency 104, severe combined	Enrichment	PTPRC	2.42
100	Polycythemia	Enrichment	JAK2	2.42
101	Hypereosinophilic syndrome	Enrichment	JAK2	2.42
102	Tafro syndrome	Enrichment	MAP2K2	2.42
103	Laron syndrome with immunodeficiency	Enrichment	STAT5B	2.42
104	Macrodactyly	Enrichment	PIK3CA	2.41
105	Vacterl association with hydrocephalus	Enrichment	PTEN	2.41
106	Deafness, autosomal recessive 26	Enrichment	GAB1	2.41
107	Legius syndrome	Enrichment	SPRED1	2.41
108	Mastocytosis, cutaneous	Enrichment	KIT	2.41
109	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.41
110	Heterochromia iridis	Enrichment	MITF	2.41
111	Hyperpigmentation with or without hypopigmentation, familial progressive	Enrichment	KITLG	2.41
112	Tietz albinism-deafness syndrome	Enrichment	MITF	2.41
113	Cowden syndrome 5	Enrichment	PIK3CA	2.41
114	Transient erythroblastopenia of childhood	Enrichment	TEC	2.41
115	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.41
116	Short syndrome	Enrichment	PIK3R1	2.41
117	Noonan syndrome 14	Enrichment	SPRED2	2.41
118	Papillary tumor of the pineal region	Enrichment	PTEN	2.41
119	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	Enrichment	MITF	2.41
120	Skin/hair/eye pigmentation, variation in, 7	Enrichment	KITLG	2.41
121	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.41
122	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.41
123	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.41
124	Nephrotic syndrome, type 6	Enrichment	PTPRO	2.41
125	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.41
126	Glioma susceptibility 2	Enrichment	PTEN	2.41
127	Menke-hennekam syndrome 1	Enrichment	CREBBP	2.41
128	Chronic mast cell leukemia	Enrichment	KIT	2.41
129	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.41
130	Deafness, autosomal dominant 69	Enrichment	KITLG	2.41
131	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	2.41
132	Hypospadias	Enrichment	PIK3CA	2.41
133	Isolated bone marrow mastocytosis	Enrichment	KIT	2.41
134	Smoldering systemic mastocytosis	Enrichment	KIT	2.41
135	Rare venous malformation	Enrichment	PIK3CA	2.41
136	Diaphragmatic eventration	Enrichment	PIK3CA	2.41
137	Mastocytosis	Enrichment	KIT	2.41
138	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.41
139	Menke-hennekam syndrome	Enrichment	CREBBP	2.41
140	Familial progressive hyperpigmentation	Enrichment	KITLG	2.41
141	Growth retardation-mild developmental delay-chronic hepatitis syndrome	Enrichment	SH2B3	2.41
142	Rare combined vascular malformation	Enrichment	PIK3CA	2.41
143	Cavernous lymphangioma	Enrichment	PIK3CA	2.41
144	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.41
145	Cutaneous mastocytoma	Enrichment	KIT	2.41
146	Typical urticaria pigmentosa	Enrichment	KIT	2.41
147	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	2.41
148	Nodular urticaria pigmentosa	Enrichment	KIT	2.41
149	Silver-russell syndrome due to maternal uniparental disomy of chromosome 7	Enrichment	GRB10	2.41
150	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.41
151	Pseudoxanthomatous diffuse cutaneous mastocytosis	Enrichment	KIT	2.41
152	Telangiectasia macularis eruptiva perstans	Enrichment	KIT	2.41
153	Acute mast cell leukemia	Enrichment	KIT	2.41
154	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.41
155	Familial progressive hyper- and hypopigmentation	Enrichment	KITLG	2.41
156	Plaque-form urticaria pigmentosa	Enrichment	KIT	2.41
157	Macrodactyly of toe	Enrichment	PIK3CA	2.41
158	Bullous diffuse cutaneous mastocytosis	Enrichment	KIT	2.41
159	Testis seminoma	Enrichment	KIT	2.41
160	Scoliosis	Enrichment	CREBBP, PTPN11	2.41
161	Colorectal cancer	Enrichment	AKT1, PIK3CA, PIK3R1	2.32
162	Burkitt lymphoma	Enrichment	MYC	2.25
163	Costello syndrome	Enrichment	HRAS	2.25
164	Ovarian germ cell cancer	Enrichment	CBL	2.25
165	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	2.25
166	Long qt syndrome 14	Enrichment	CALM1	2.25
167	Werner syndrome	Enrichment	PTPN11	2.25
168	Intravascular large b-cell lymphoma	Enrichment	BCL2	2.25
169	Malignant germ cell tumor of ovary	Enrichment	CBL	2.25
170	Wooly hair nevus	Enrichment	HRAS	2.25
171	Prostate cancer	Enrichment	PIK3CA, PTEN	2.25
172	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	STAT3	2.24
173	Immune thrombocytopenia	Enrichment	SOCS1	2.24
174	Polycythemia vera	Enrichment	JAK2	2.24
175	Nuchal bleb, familial	Enrichment	SOS1	2.24
176	Langerhans cell histiocytosis	Enrichment	MAP2K1	2.24
177	Autoinflammatory syndrome, familial, with or without immunodeficiency	Enrichment	SOCS1	2.24
178	Primary polycythemia	Enrichment	EPOR	2.24
179	Bacteremia 2	Enrichment	CISH	2.24
180	Hyper ige syndrome	Enrichment	STAT3	2.24
181	Wieacker-wolff syndrome	Enrichment	RASA1	2.24
182	Anemia, autoimmune hemolytic	Enrichment	SOCS1	2.12
183	Budd-chiari syndrome	Enrichment	JAK2	2.12
184	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	2.12
185	Tuberculosis	Enrichment	CISH	2.12
186	Gingival fibromatosis	Enrichment	SOS1	2.12
187	Thumb deformity	Enrichment	CREBBP	2.11
188	Seizures, benign familial infantile, 2	Enrichment	PRRT2	2.11
189	Keratosis, seborrheic	Enrichment	PIK3CA	2.11
190	Noonan syndrome 8	Enrichment	PIK3CA	2.11
191	Myopia 28, autosomal recessive	Enrichment	DOK1	2.11
192	Waardenburg syndrome, type 2f	Enrichment	KITLG	2.11
193	Melanoma, cutaneous malignant 8	Enrichment	MITF	2.11
194	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	2.11
195	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	2.11
196	Papillary renal cell carcinoma	Enrichment	MITF	2.11
197	Vacterl with hydrocephalus	Enrichment	PTEN	2.11
198	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KIT	2.11
199	Juvenile polyposis of infancy	Enrichment	PTEN	2.11
200	Prrt2-related disorder	Enrichment	PRRT2	2.11
201	Thrombocytopenia	Enrichment	PTPN11, SRC	2.10
202	Neutrophilic dermatosis, acute febrile	Enrichment	PTPN6	2.08
203	Large congenital melanocytic nevus	Enrichment	HRAS	2.08
204	Spermatocytoma	Enrichment	HRAS	2.08
205	Tricuspid valve insufficiency	Enrichment	PTPN11	2.08
206	Autism spectrum disorder	Enrichment	MAP2K1, PTEN, PTPN11	2.05
207	Capillary malformations, congenital	Enrichment	RASA1	2.02
208	Leukemia, acute myeloid	Enrichment	JAK2, KIT	1.97
209	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS	1.95
210	Lymphoproliferative syndrome 2	Enrichment	XIAP	1.95
211	Epidermolytic nevus	Enrichment	HRAS	1.95
212	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.95
213	Klippel-trenaunay-weber syndrome	Enrichment	RASA1	1.94
214	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	RASA1	1.94
215	Hemangioma, capillary infantile	Enrichment	RASA1	1.94
216	Basal cell carcinoma 1	Enrichment	RASA1	1.94
217	Chronic mucocutaneous candidiasis	Enrichment	STAT1	1.94
218	Autosomal dominant secondary polycythemia	Enrichment	EPO	1.94
219	Waardenburg syndrome, type 2a	Enrichment	MITF	1.93
220	Thrombocythemia 1	Enrichment	SH2B3	1.93
221	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.93
222	Glut1 deficiency syndrome 2	Enrichment	PRRT2	1.93
223	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	1.93
224	Tethered spinal cord syndrome	Enrichment	CREBBP	1.93
225	Testicular germ cell cancer	Enrichment	KIT	1.93
226	Immunodeficiency 14	Enrichment	PIK3R1	1.93
227	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	1.93
228	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.93
229	Keratoacanthoma	Enrichment	PIK3CA	1.93
230	Gastric cancer	Enrichment	PIK3CA, PTEN	1.91
231	Hereditary hemorrhagic telangiectasia	Enrichment	RASA1	1.87
232	Pilomyxoid astrocytoma	Enrichment	RAF1	1.87
233	Follicular lymphoma	Enrichment	BCL2	1.86
234	Lymphoma	Enrichment	PTPN11	1.86
235	Aggressive systemic mastocytosis	Enrichment	CBL	1.86
236	Permanent neonatal diabetes mellitus	Enrichment	STAT3	1.82
237	Paroxysmal nonkinesigenic dyskinesia 1	Enrichment	PRRT2	1.81
238	Episodic kinesigenic dyskinesia 1	Enrichment	PRRT2	1.81
239	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3CA	1.81
240	Cerebrovascular disease	Enrichment	PIK3CA	1.81
241	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.81
242	Familial paroxysmal nonkinesigenic dyskinesia	Enrichment	PRRT2	1.81
243	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	KIT	1.81
244	Familial or sporadic hemiplegic migraine	Enrichment	PRRT2	1.81
245	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	KIT	1.81
246	Glioma	Enrichment	PTEN	1.81
247	Clear cell papillary renal cell carcinoma	Enrichment	MITF	1.81
248	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	1.78
249	Patent ductus arteriosus	Enrichment	PTPN11	1.78
250	Leukemia, acute lymphoblastic 3	Enrichment	JAK2	1.77
251	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	KITLG, MITF	1.76
252	Convulsions, familial infantile, with paroxysmal choreoathetosis	Enrichment	PRRT2	1.71
253	Macrocephaly/autism syndrome	Enrichment	PTEN	1.71
254	Acute myeloid leukemia with maturation	Enrichment	KIT	1.71
255	Hemangioma	Enrichment	PTEN	1.71
256	Acute megakaryocytic leukemia	Enrichment	PTEN	1.71
257	Self-limited infantile epilepsy	Enrichment	PRRT2	1.71
258	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	KIT	1.71
259	Hereditary breast ovarian cancer syndrome	Enrichment	MITF, PTEN	1.71
260	Myeloma, multiple	Enrichment	CREBBP, SH2B3	1.70
261	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	1.65
262	Rubinstein-taybi syndrome 1	Enrichment	CREBBP	1.63
263	Hemihyperplasia, isolated	Enrichment	PIK3CA	1.63
264	Waardenburg syndrome, type 4a	Enrichment	MITF	1.63
265	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP	1.63
266	Lung squamous cell carcinoma	Enrichment	PIK3CA	1.63
267	Hypertrichosis	Enrichment	CREBBP	1.63
268	Waardenburg syndrome	Enrichment	MITF	1.63
269	Aortic valve disease 1	Enrichment	SOS1	1.61
270	Osteoporosis	Enrichment	SRC	1.58
271	46,xy partial gonadal dysgenesis	Enrichment	SOS1	1.58
272	Waardenburg syndrome, type 1	Enrichment	MITF	1.57
273	Squamous cell carcinoma, head and neck	Enrichment	PTEN	1.57
274	Gastrointestinal stromal tumor	Enrichment	KIT	1.57
275	Gallbladder cancer	Enrichment	PIK3CA	1.57
276	Overgrowth syndrome	Enrichment	PIK3R1	1.57
277	Pectus excavatum	Enrichment	PTPN11	1.52
278	Epicanthus	Enrichment	PTPN11	1.48
279	Congenital long qt syndrome	Enrichment	PTPN11	1.48
280	Heart, malformation of	Enrichment	MAPK1	1.47
281	Neurofibromatosis, type i	Enrichment	SPRED1	1.46
282	Adult hepatocellular carcinoma	Enrichment	PIK3CA	1.46
283	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	1.42
284	Meningioma, familial	Enrichment	PTEN	1.38
285	Uterine corpus cancer	Enrichment	PTEN	1.38
286	Malaria	Enrichment	CISH	1.36
287	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	1.35
288	Microcephaly	Enrichment	MAPK1, PTPN11	1.33
289	Sudden infant death syndrome	Enrichment	CALM2	1.33
290	Patent foramen ovale	Enrichment	PTPN11	1.31
291	Hypercholesterolemia, familial, 1	Enrichment	STAP1	1.30
292	Heart disease	Enrichment	CREBBP	1.27
293	Generalized epilepsy with febrile seizures plus	Enrichment	PRRT2	1.27
294	Corpus callosum, agenesis of	Enrichment	CREBBP	1.24
295	Familial hypercholesterolemia	Enrichment	STAP1	1.24
296	Lynch syndrome	Enrichment	PIK3CA	1.24
297	Isolated corpus callosum agenesis	Enrichment	CREBBP	1.24
298	Rare genetic intellectual disability	Enrichment	CREBBP	1.24
299	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	1.24
300	Male infertility with spermatogenesis disorder	Enrichment	SPRED1	1.24
301	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	1.21
302	Severe combined immunodeficiency	Enrichment	PTPRC	1.21
303	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC	1.20
304	Melanoma, cutaneous malignant 1	Enrichment	MITF	1.19
305	Congenital nervous system abnormality	Enrichment	CREBBP, PTEN	1.19
306	Nervous system disease	Enrichment	CREBBP, PTEN	1.19
307	Left ventricular noncompaction	Enrichment	RAF1	1.19
308	Autoinflammatory disease	Enrichment	XIAP	1.19
309	Systemic lupus erythematosus	Enrichment	SOCS1	1.14
310	Strabismus	Enrichment	PTPN11	1.14
311	Differentiated thyroid carcinoma	Enrichment	HRAS	1.11
312	Hepatocellular carcinoma	Enrichment	PIK3CA	1.08
313	Ear malformation	Enrichment	MITF	1.05
314	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	1.01
315	Primary ovarian insufficiency	Enrichment	JAK2	0.97
316	Hypertrophic cardiomyopathy	Enrichment	PTPN11	0.94
317	Lung cancer	Enrichment	PIK3CA	0.93
318	Genetic steroid-resistant nephrotic syndrome	Enrichment	PTPRO	0.90
319	Non-syndromic genetic deafness	Enrichment	MITF	0.88
320	Dilated cardiomyopathy	Enrichment	RAF1	0.85
321	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	PTPN11	0.84
322	Nonsyndromic hearing loss	Enrichment	MITF	0.82
323	Hypertelorism	Enrichment	PIK3CA	0.73
324	Autism	Enrichment	CREBBP	0.61
325	Rare genetic deafness	Enrichment	MITF	0.57

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Development EPO-induced Jak-STAT pathway

Pathway Network for Development EPO-induced Jak-STAT pathway

Pathway network for the Development EPO-induced Jak-STAT pathway SuperPath

Member Pathways for Development EPO-induced Jak-STAT pathway

Pathways in the Development EPO-induced Jak-STAT pathway SuperPath

Gene overlap in member pathways for Development EPO-induced Jak-STAT pathway SuperPath

Associated Genes for Development EPO-induced Jak-STAT pathway

Associated Disorders for Development EPO-induced Jak-STAT pathway

Disorders associated with Development EPO-induced Jak-STAT pathway SuperPath

STRING Interaction Network for Development EPO-induced Jak-STAT pathway

Sources for Development EPO-induced Jak-STAT pathway