Development Endothelin-1/EDNRA transactivation of EGFR

Pathway network for the Development Endothelin-1/EDNRA transactivation of EGFR SuperPath

Sources:

GeneGo (Thomson Reuters)

Pathways in the Development Endothelin-1/EDNRA transactivation of EGFR SuperPath

#	Name	Source	Genes
1	Development Endothelin-1/EDNRA transactivation of EGFR	GeneGo (Thomson Reuters)	ADAM9 AKT1 AKT2 AKT3 CACNA1C CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G COL1A1 COL1A2 EDN1 EDNRA EGFR FOS GNA11 GNAQ GRB2 HBEGF HRAS ITPR1 ITPR2 ITPR3 MAP2K1 MAP2K2 MAPK1 MAPK3 MTOR PDPK1 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PLCB1 PLCB2 PLCB3 PLCB4 PRKCD PTK2B RAF1 RHEB RPS6KB1 RPS6KB2 SHC1 SOS1 SOS2 SP1 SRC STAT5A STAT5B TSC2 (see all 56) (see less)
2	Development Endothelin-1/EDNRA signaling	GeneGo (Thomson Reuters)	ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 AKT1 AKT2 AKT3 CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CCND1 CDC42 CTNNB1 EDN1 EDNRA ELK1 FARP2 GATA4 GNA11 GNAI1 GNAI2 GNAI3 GNAO1 GNAQ GNAS GNAZ GRB2 GSK3B HRAS ITPR1 ITPR2 ITPR3 MAP2K1 MAP2K2 MAP2K4 MAP2K6 MAP3K1 MAP3K4 MAPK1 MAPK10 MAPK14 MAPK3 MAPK8 MAPK9 NPPB PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PLCB3 PRKCD PRKCE PTK2B RAC1 RAF1 SHC1 SOS1 SOS2 SRC TCF7L2 (see all 71) (see less)
3	Cytoskeleton remodeling FAK signaling	GeneGo (Thomson Reuters)	AKT1 AKT2 AKT3 ARHGAP35 BCAR1 BRS3 CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CAPN2 CCND3 CDC42 CRK DOCK1 ELK1 FARP2 FN1 GNA11 GNAQ GRB2 GSK3B HRAS ITGA2 ITGB1 ITPR1 ITPR2 ITPR3 KDR MAP2K1 MAP2K2 MAP2K7 MAP3K1 MAPK1 MAPK3 MAPK8 PAK1 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PLCB1 PLCB2 PLCB3 PLCB4 PLCG1 PTEN PTK2 PXN RAC1 RAF1 RAP1A RAPGEF1 RHOA RIPK1 SHC1 SOS1 SOS2 SRC TLN1 TLN2 TRAF3 VEGFA (see all 68) (see less)

Gene overlap in member pathways for Development Endothelin-1/EDNRA transactivation of EGFR SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	3
2	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	3
3	CALM1	Calmodulin 1	Protein Coding	3
4	CALM2	Calmodulin 2	Protein Coding	3
5	CALM3	Calmodulin 3	Protein Coding	3
6	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	3
7	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	3
8	CAMK2D	Calcium/Calmodulin Dependent Protein Kinase II Delta	Protein Coding	3
9	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	3
10	GNA11	G Protein Subunit Alpha 11	Protein Coding	3
11	GNAQ	G Protein Subunit Alpha Q	Protein Coding	3
12	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	3
13	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	3
14	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	3
15	ITPR2	Inositol 1,4,5-Trisphosphate Receptor Type 2	Protein Coding	3
16	ITPR3	Inositol 1,4,5-Trisphosphate Receptor Type 3	Protein Coding	3
17	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	3
18	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	3
19	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	3
20	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	3
21	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	3
22	PLCB3	Phospholipase C Beta 3	Protein Coding	3
23	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	3
24	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	3
25	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	3
26	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	3
27	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	3
28	SHC1	SHC Adaptor Protein 1	Protein Coding	3
29	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	3
30	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	3
31	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	3
32	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	3
33	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	3
34	EDN1	Endothelin 1	Protein Coding	2
35	EDNRA	Endothelin Receptor Type A	Protein Coding	2
36	PTK2B	Protein Tyrosine Kinase 2 Beta	Protein Coding	2
37	PLCB2	Phospholipase C Beta 2	Protein Coding	2
38	PLCB4	Phospholipase C Beta 4	Protein Coding	2
39	PRKCD	Protein Kinase C Delta	Protein Coding	2
40	PLCB1	Phospholipase C Beta 1	Protein Coding	2
41	CDC42	Cell Division Cycle 42	Protein Coding	2
42	ELK1	ETS Transcription Factor ELK1	Protein Coding	2
43	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	2
44	MAP3K1	Mitogen-Activated Protein Kinase Kinase Kinase 1	Protein Coding	2
45	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	2
46	RAC1	Rac Family Small GTPase 1	Protein Coding	2
47	FARP2	FERM, ARH/RhoGEF And Pleckstrin Domain Protein 2	Protein Coding	2
48	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	1
49	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	1
50	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	1
51	HBEGF	Heparin Binding EGF Like Growth Factor	Protein Coding	1
52	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
53	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
54	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
55	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
56	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	1
57	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	1
58	RPS6KB2	Ribosomal Protein S6 Kinase B2	Protein Coding	1
59	SP1	Sp1 Transcription Factor	Protein Coding	1
60	STAT5A	Signal Transducer And Activator Of Transcription 5A	Protein Coding	1
61	STAT5B	Signal Transducer And Activator Of Transcription 5B	Protein Coding	1
62	TSC2	TSC Complex Subunit 2	Protein Coding	1
63	ADAM9	ADAM Metallopeptidase Domain 9	Protein Coding	1
64	ADCY1	Adenylate Cyclase 1	Protein Coding	1
65	ADCY2	Adenylate Cyclase 2	Protein Coding	1
66	ADCY3	Adenylate Cyclase 3	Protein Coding	1
67	ADCY5	Adenylate Cyclase 5	Protein Coding	1
68	ADCY6	Adenylate Cyclase 6	Protein Coding	1
69	ADCY7	Adenylate Cyclase 7	Protein Coding	1
70	ADCY8	Adenylate Cyclase 8	Protein Coding	1
71	ADCY9	Adenylate Cyclase 9	Protein Coding	1
72	CCND1	Cyclin D1	Protein Coding	1
73	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	1
74	CTNNB1	Catenin Beta 1	Protein Coding	1
75	GATA4	GATA Binding Protein 4	Protein Coding	1
76	GNAI1	G Protein Subunit Alpha I1	Protein Coding	1
77	GNAI2	G Protein Subunit Alpha I2	Protein Coding	1
78	GNAI3	G Protein Subunit Alpha I3	Protein Coding	1
79	GNAO1	G Protein Subunit Alpha O1	Protein Coding	1
80	GNAS	GNAS Complex Locus	Protein Coding	1
81	GNAZ	G Protein Subunit Alpha Z	Protein Coding	1
82	MAP3K4	Mitogen-Activated Protein Kinase Kinase Kinase 4	Protein Coding	1
83	NPPB	Natriuretic Peptide B	Protein Coding	1
84	PRKCE	Protein Kinase C Epsilon	Protein Coding	1
85	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	1
86	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	1
87	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	1
88	MAP2K4	Mitogen-Activated Protein Kinase Kinase 4	Protein Coding	1
89	TCF7L2	Transcription Factor 7 Like 2	Protein Coding	1
90	ADCY4	Adenylate Cyclase 4	Protein Coding	1
91	RHOA	Ras Homolog Family Member A	Protein Coding	1
92	BRS3	Bombesin Receptor Subtype 3	Protein Coding	1
93	CAPN2	Calpain 2	Protein Coding	1
94	CCND3	Cyclin D3	Protein Coding	1
95	CRK	CRK Proto-Oncogene, Adaptor Protein	Protein Coding	1
96	DOCK1	Dedicator Of Cytokinesis 1	Protein Coding	1
97	FN1	Fibronectin 1	Protein Coding	1
98	RAPGEF1	Rap Guanine Nucleotide Exchange Factor 1	Protein Coding	1
99	ARHGAP35	Rho GTPase Activating Protein 35	Protein Coding	1
100	ITGA2	Integrin Subunit Alpha 2	Protein Coding	1
101	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
102	KDR	Kinase Insert Domain Receptor	Protein Coding	1
103	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	1
104	PLCG1	Phospholipase C Gamma 1	Protein Coding	1
105	MAP2K7	Mitogen-Activated Protein Kinase Kinase 7	Protein Coding	1
106	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
107	PTK2	Protein Tyrosine Kinase 2	Protein Coding	1
108	PXN	Paxillin	Protein Coding	1
109	RAP1A	RAP1A, Member Of RAS Oncogene Family	Protein Coding	1
110	TLN1	Talin 1	Protein Coding	1
111	TRAF3	TNF Receptor Associated Factor 3	Protein Coding	1
112	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	1
113	RIPK1	Receptor Interacting Serine/Threonine Kinase 1	Protein Coding	1
114	BCAR1	BCAR1 Scaffold Protein, Cas Family Member	Protein Coding	1
115	TLN2	Talin 2	Protein Coding	1

Disorders associated with Development Endothelin-1/EDNRA transactivation of EGFR SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Noonan syndrome 1	Enrichment	HRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2	9.41
2	Rasopathy	Enrichment	HRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2	9.10
3	Hemimegalencephaly	Enrichment	AKT3, MTOR, PIK3CA, RHEB	8.87
4	Noonan syndrome and noonan-related syndrome	Enrichment	HRAS, MAP2K1, MAP2K2, RAF1, SOS1	8.53
5	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	GNA11, PIK3CA, PIK3R1	7.18
6	Lung non-small cell carcinoma	Enrichment	EGFR, HRAS, MAP2K1, PIK3CA	7.08
7	Long qt syndrome 1	Enrichment	CACNA1C, CALM1, CALM2, CALM3, ITPR3	6.88
8	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	6.58
9	Focal cortical dysplasia, type ii	Enrichment	MTOR, RHEB, TSC2	6.58
10	Isolated focal cortical dysplasia type ii	Enrichment	MTOR, RHEB, TSC2	6.58
11	Capillary malformations, congenital	Enrichment	GNA11, GNAQ, PIK3CA	6.18
12	Melanoma, uveal	Enrichment	GNA11, GNAQ, PLCB4	5.88
13	Noonan syndrome 3	Enrichment	HRAS, RAF1, SOS1	5.64
14	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	5.43
15	Arteriovenous malformation	Enrichment	HRAS, MAP2K1, PIK3CA	5.26
16	Colorectal cancer	Enrichment	AKT1, CCND1, CTNNB1, PIK3CA, PIK3R1, SRC	5.22
17	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1, PIK3CA	5.11
18	Cowden syndrome	Enrichment	AKT1, PIK3CA, PTEN	5.00
19	Lip and oral cavity carcinoma	Enrichment	EGFR, HRAS, PIK3CA	4.85
20	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	4.78
21	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	4.78
22	Phakomatosis cesioflammea	Enrichment	GNA11, GNAQ	4.78
23	Osteoporosis	Enrichment	COL1A1, COL1A2, SRC	4.63
24	Immune system disease	Enrichment	CDC42, PIK3CD	4.61
25	Meningioma	Enrichment	AKT1, PIK3CA, PTEN	4.59
26	46,xy partial gonadal dysgenesis	Enrichment	GATA4, MAP3K1, SOS1	4.32
27	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	4.30
28	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	4.30
29	High bone mass osteogenesis imperfecta	Enrichment	COL1A1, COL1A2	4.30
30	Anastomosing haemangioma	Enrichment	GNA11, GNAQ	4.30
31	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	4.00
32	Cardiofaciocutaneous syndrome 1	Enrichment	MAP2K1, MAP2K2	4.00
33	Auriculocondylar syndrome 1	Enrichment	EDN1, PLCB4	4.00
34	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	4.00
35	Cardiofaciocutaneous syndrome	Enrichment	MAP2K1, MAP2K2	4.00
36	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	4.00
37	Bladder cancer	Enrichment	EGFR, HRAS, PIK3CA	3.65
38	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2	3.60
39	Klippel-trenaunay-weber syndrome	Enrichment	GNAQ, PIK3CA	3.60
40	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2	3.60
41	Cowden syndrome 1	Enrichment	EGFR, PIK3CA	3.60
42	Breast adenocarcinoma	Enrichment	AKT1, PIK3CA	3.60
43	Lung squamous cell carcinoma	Enrichment	EGFR, PIK3CA	3.60
44	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2	3.60
45	Long qt syndrome	Enrichment	CACNA1C, CALM1, CALM2	3.56
46	Nevus, epidermal	Enrichment	HRAS, PIK3CA	3.46
47	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2	3.46
48	Capillary malformation-arteriovenous malformation 1	Enrichment	MAP2K1, PIK3CA	3.46
49	Overgrowth syndrome	Enrichment	MTOR, PIK3R1	3.46
50	Hemihyperplasia, isolated	Enrichment	PIK3CA, RHOA	3.44
51	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, RAF1	3.34
52	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, PTEN	3.29
53	Follicular thyroid carcinoma	Enrichment	HRAS, PTEN	3.29
54	Breast cancer	Enrichment	AKT1, PIK3CA, PTEN, SHC1	3.27
55	Gallbladder cancer	Enrichment	CTNNB1, PIK3CA	3.25
56	Adult hepatocellular carcinoma	Enrichment	PIK3CA, TSC2	3.23
57	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3CD, PIK3R1	3.13
58	Primary bone dysplasia	Enrichment	COL1A1, COL1A2	3.13
59	Ovarian cancer	Enrichment	AKT1, EGFR, PIK3CA, TSC2	3.10
60	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2	3.05
61	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2	2.90
62	Hereditary breast carcinoma	Enrichment	AKT1, PIK3CA, PTEN	2.86
63	Osteogenesis imperfecta, type iii	Enrichment	COL1A1, COL1A2	2.77
64	Hereditary breast ovarian cancer syndrome	Enrichment	BCAR1, PTEN, RIPK1	2.58
65	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2	2.56
66	Rhabdomyosarcoma	Enrichment	HRAS, PTEN	2.55
67	Heart, malformation of	Enrichment	GATA4, MAPK1	2.41
68	Microcephaly	Enrichment	CAMK2B, CTNNB1, GNAO1, MAPK1	2.41
69	Brittle bone disorder	Enrichment	COL1A1, COL1A2	2.40
70	Anhidrosis, isolated, with normal sweat glands	Enrichment	ITPR2	2.38
71	Macrodactyly	Enrichment	PIK3CA	2.38
72	Proteus syndrome	Enrichment	AKT1	2.38
73	Hypocalciuric hypercalcemia, familial, type ii	Enrichment	GNA11	2.38
74	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.38
75	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	2.38
76	Noonan syndrome 5	Enrichment	RAF1	2.38
77	Noonan syndrome 4	Enrichment	SOS1	2.38
78	Cone-rod dystrophy 9	Enrichment	ADAM9	2.38
79	Melorheostosis, isolated	Enrichment	MAP2K1	2.38
80	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.38
81	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.38
82	Cowden syndrome 5	Enrichment	PIK3CA	2.38
83	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.38
84	Mandibulofacial dysostosis with alopecia	Enrichment	EDNRA	2.38
85	Noonan syndrome 9	Enrichment	SOS2	2.38
86	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	2.38
87	Sturge-weber syndrome	Enrichment	GNAQ	2.38
88	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.38
89	Auriculocondylar syndrome 3	Enrichment	EDN1	2.38
90	Noonan syndrome 13	Enrichment	MAPK1	2.38
91	Spondylometaphyseal dysplasia with corneal dystrophy	Enrichment	PLCB3	2.38
92	Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant	Enrichment	STAT5B	2.38
93	Charcot-marie-tooth disease, demyelinating, type 1j	Enrichment	ITPR3	2.38
94	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	2.38
95	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	2.38
96	Short syndrome	Enrichment	PIK3R1	2.38
97	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	2.38
98	Auriculocondylar syndrome 2a	Enrichment	PLCB4	2.38
99	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.38
100	Brugada syndrome 3	Enrichment	CACNA1C	2.38
101	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.38
102	Question mark ears, isolated	Enrichment	EDN1	2.38
103	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.38
104	Melorheostosis	Enrichment	MAP2K1	2.38
105	Leopard syndrome 2	Enrichment	RAF1	2.38
106	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.38
107	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.38
108	Long qt syndrome 16	Enrichment	CALM3	2.38
109	Hypocalcemia, autosomal dominant 2	Enrichment	GNA11	2.38
110	Cowden syndrome 6	Enrichment	AKT1	2.38
111	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	2.38
112	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.38
113	Thrombocytopenia 6	Enrichment	SRC	2.38
114	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	2.38
115	Trigonitis	Enrichment	RAF1	2.38
116	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.38
117	Auriculocondylar syndrome 2b	Enrichment	PLCB4	2.38
118	Asphyxia neonatorum	Enrichment	COL1A1	2.38
119	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	2.38
120	Long qt syndrome 15	Enrichment	CALM2	2.38
121	Hypospadias	Enrichment	PIK3CA	2.38
122	Capillary hemangioma	Enrichment	AKT3	2.38
123	Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Enrichment	ITPR3	2.38
124	Rare venous malformation	Enrichment	PIK3CA	2.38
125	Diaphragmatic eventration	Enrichment	PIK3CA	2.38
126	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.38
127	Atypical timothy syndrome	Enrichment	CACNA1C	2.38
128	Rare combined vascular malformation	Enrichment	PIK3CA	2.38
129	Cavernous lymphangioma	Enrichment	PIK3CA	2.38
130	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.38
131	Timothy syndrome type 2	Enrichment	CACNA1C	2.38
132	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.38
133	Phakomatosis cesiomarmorata	Enrichment	GNA11	2.38
134	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.38
135	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.38
136	Timothy syndrome type 1	Enrichment	CACNA1C	2.38
137	Macrodactyly of toe	Enrichment	PIK3CA	2.38
138	Cacna1c-related disorders	Enrichment	CACNA1C	2.38
139	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.38
140	Cardiomyopathy, familial hypertrophic, 1	Enrichment	CACNA1C, RAF1	2.36
141	Endometrial cancer	Enrichment	PIK3CA, PTEN	2.31
142	Vacterl association with hydrocephalus	Enrichment	PTEN	2.30
143	46,xy sex reversal 6	Enrichment	MAP3K1	2.30
144	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	2.30
145	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	2.30
146	Immunodeficiency 132a	Enrichment	TRAF3	2.30
147	Immunodeficiency 132b	Enrichment	TRAF3	2.30
148	Papillary tumor of the pineal region	Enrichment	PTEN	2.30
149	Microvascular complications of diabetes 1	Enrichment	VEGFA	2.30
150	Glioma susceptibility 2	Enrichment	PTEN	2.30
151	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	2.30
152	Takenouchi-kosaki syndrome	Enrichment	CDC42	2.30
153	Autoinflammation with episodic fever and lymphadenopathy	Enrichment	RIPK1	2.30
154	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	2.30
155	Tufted angioma of skin	Enrichment	KDR	2.30
156	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	2.30
157	Capillary leak syndrome	Enrichment	TLN1	2.30
158	Nocarh syndrome	Enrichment	CDC42	2.30
159	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	2.30
160	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	2.30
161	Temporomandibular joint anomaly	Enrichment	DOCK1	2.30
162	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	2.28
163	Osseous heteroplasia, progressive	Enrichment	GNAS	2.28
164	Dyskinesia with orofacial involvement, autosomal dominant	Enrichment	ADCY5	2.28
165	Neurodevelopmental disorder with involuntary movements	Enrichment	GNAO1	2.28
166	Deafness, autosomal recessive 44	Enrichment	ADCY1	2.28
167	Atrioventricular septal defect 4	Enrichment	GATA4	2.28
168	Ventricular tachycardia, familial	Enrichment	GNAI2	2.28
169	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	2.28
170	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Enrichment	ADCY5	2.28
171	Pituitary adenoma 3, multiple types	Enrichment	GNAS	2.28
172	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Enrichment	GNAI1	2.28
173	Developmental and epileptic encephalopathy 17	Enrichment	GNAO1	2.28
174	Dyskinesia with orofacial involvement, autosomal recessive	Enrichment	ADCY5	2.28
175	Atrial septal defect 2	Enrichment	GATA4	2.28
176	Testicular anomalies with or without congenital heart disease	Enrichment	GATA4	2.28
177	Disorders of gnas inactivation	Enrichment	GNAS	2.28
178	8p23.1 microdeletion syndrome	Enrichment	GATA4	2.28
179	Adenoid ameloblastoma	Enrichment	CTNNB1	2.28
180	Partial atrioventricular septal defect with ventricular hypoplasia	Enrichment	GATA4	2.28
181	Monostotic fibrous dysplasia	Enrichment	GNAS	2.28
182	Gnao1-related disorder	Enrichment	GNAO1	2.28
183	Mazabraud syndrome	Enrichment	GNAS	2.28
184	Microcystic stromal tumor	Enrichment	CTNNB1	2.28
185	Hepatocellular carcinoma	Enrichment	CTNNB1, PIK3CA	2.23
186	Lung cancer	Enrichment	EGFR, PIK3CA	2.12
187	Spinocerebellar ataxia 29	Enrichment	ITPR1	2.08
188	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1	2.08
189	Fibromatosis, gingival, 1	Enrichment	SOS1	2.08
190	Costello syndrome	Enrichment	HRAS	2.08
191	Bruck syndrome 1	Enrichment	COL1A2	2.08
192	Cutis marmorata telangiectatica congenita	Enrichment	GNA11	2.08
193	Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive	Enrichment	STAT5B	2.08
194	Timothy syndrome	Enrichment	CACNA1C	2.08
195	Dermatofibrosarcoma protuberans	Enrichment	COL1A1	2.08
196	Pulmonic stenosis	Enrichment	SOS1	2.08
197	Lymphangioleiomyomatosis	Enrichment	TSC2	2.08
198	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	2.08
199	Keratosis, seborrheic	Enrichment	PIK3CA	2.08
200	Roifman-chitayat syndrome	Enrichment	PIK3CD	2.08
201	Noonan syndrome 8	Enrichment	PIK3CA	2.08
202	Long qt syndrome 14	Enrichment	CALM1	2.08
203	Long qt syndrome 8	Enrichment	CACNA1C	2.08
204	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	2.08
205	Cebalid syndrome	Enrichment	MTOR	2.08
206	Senior-loken syndrome 7	Enrichment	AKT3	2.08
207	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	2.08
208	Autosomal dominant hypocalcemia	Enrichment	GNA11	2.08
209	Stickler syndrome, type ii	Enrichment	COL1A1	2.08
210	Ocular melanoma	Enrichment	PLCB4	2.08
211	Bardet-biedl syndrome 16	Enrichment	AKT3	2.08
212	Smith-kingsmore syndrome	Enrichment	MTOR	2.08
213	Dentinogenesis imperfecta	Enrichment	COL1A2	2.08
214	Tafro syndrome	Enrichment	MAP2K2	2.08
215	Laron syndrome with immunodeficiency	Enrichment	STAT5B	2.08
216	Wooly hair nevus	Enrichment	HRAS	2.08
217	Prostate cancer	Enrichment	PIK3CA, PTEN	2.04
218	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	FN1	2.00
219	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	FN1	2.00
220	Angioma, tufted	Enrichment	KDR	2.00
221	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	2.00
222	Immunodeficiency 57 with autoinflammation	Enrichment	RIPK1	2.00
223	Vacterl with hydrocephalus	Enrichment	PTEN	2.00
224	Juvenile polyposis of infancy	Enrichment	PTEN	2.00
225	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	1.98
226	Pituitary adenoma 4, acth-secreting	Enrichment	GNAI2	1.98
227	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.98
228	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS	1.98
229	Pseudopseudohypoparathyroidism	Enrichment	GNAS	1.98
230	Lethal congenital contracture syndrome 8	Enrichment	ADCY6	1.98
231	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	1.98
232	Pseudohypoparathyroidism	Enrichment	GNAS	1.98
233	46,xy sex reversal 3	Enrichment	GATA4	1.98
234	Body mass index quantitative trait locus 19	Enrichment	ADCY3	1.98
235	Hypopituitarism	Enrichment	GNAI2	1.98
236	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.98
237	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	1.98
238	Teratoma	Enrichment	CTNNB1	1.98
239	Gillespie syndrome	Enrichment	ITPR1	1.91
240	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.91
241	Tuberous sclerosis 1	Enrichment	TSC2	1.91
242	Polycystic kidney disease, infantile severe, with tuberous sclerosis	Enrichment	TSC2	1.91
243	Nuchal bleb, familial	Enrichment	SOS1	1.91
244	Langerhans cell histiocytosis	Enrichment	MAP2K1	1.91
245	Caffey disease	Enrichment	COL1A1	1.91
246	Tuberous sclerosis 2	Enrichment	TSC2	1.91
247	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.91
248	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	Enrichment	CACNA1C	1.91
249	Large congenital melanocytic nevus	Enrichment	HRAS	1.91
250	Hamartoma	Enrichment	TSC2	1.91
251	Xanthinuria, type ii	Enrichment	TSC2	1.91
252	Spermatocytoma	Enrichment	HRAS	1.91
253	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.91
254	Keratoacanthoma	Enrichment	PIK3CA	1.91
255	West syndrome	Enrichment	PLCB1, TSC2	1.85
256	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	1.82
257	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.82
258	Desmoid disease, hereditary	Enrichment	CTNNB1	1.81
259	Mccune-albright syndrome	Enrichment	GNAS	1.81
260	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.81
261	Anus, imperforate	Enrichment	CTNNB1	1.81
262	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.81
263	Desmoid tumor	Enrichment	CTNNB1	1.81
264	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	1.81
265	Hypomyelination neuropathy-arthrogryposis syndrome	Enrichment	ADCY6	1.81
266	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS	1.78
267	Phenylketonuria	Enrichment	COL1A1	1.78
268	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.78
269	Ventricular fibrillation, paroxysmal familial, 1	Enrichment	CACNA1C	1.78
270	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.78
271	Spinocerebellar ataxia 15	Enrichment	ITPR1	1.78
272	Developmental and epileptic encephalopathy 12	Enrichment	PLCB1	1.78
273	Congenital generalized lipodystrophy	Enrichment	FOS	1.78
274	Tuberous sclerosis	Enrichment	TSC2	1.78
275	Cerebrovascular disease	Enrichment	PIK3CA	1.78
276	Noonan syndrome with multiple lentigines	Enrichment	RAF1	1.78
277	Epidermolytic nevus	Enrichment	HRAS	1.78
278	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.78
279	Gingival fibromatosis	Enrichment	SOS1	1.78
280	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.78
281	Congenital nervous system abnormality	Enrichment	CAMK2B, CTNNB1, GNAO1	1.74
282	Nervous system disease	Enrichment	CAMK2B, CTNNB1, GNAO1	1.74
283	Autosomal dominant non-syndromic intellectual disability	Enrichment	CAMK2A, CAMK2B	1.74
284	Hypertelorism	Enrichment	COL1A1, PIK3CA	1.71
285	Gastric cancer	Enrichment	PIK3CA, PTEN	1.71
286	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42	1.70
287	Glioma	Enrichment	PTEN	1.70
288	Type 2 diabetes mellitus	Enrichment	AKT2, TCF7L2	1.69
289	Heart conduction disease	Enrichment	CACNA1C	1.69
290	Histiocytoid hemangioma	Enrichment	FOS	1.69
291	Chorea, benign hereditary	Enrichment	ADCY5	1.68
292	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	1.68
293	Pilomatrixoma	Enrichment	CTNNB1	1.68
294	Achromatopsia 4	Enrichment	GNAI3	1.68
295	Alazami syndrome	Enrichment	CTNNB1	1.68
296	Mantle cell lymphoma	Enrichment	CCND1	1.68
297	Craniopharyngioma	Enrichment	CTNNB1	1.68
298	Transposition of the great arteries	Enrichment	GATA4	1.68
299	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	1.61
300	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	1.61
301	Keratoconus	Enrichment	COL1A1	1.61
302	Martsolf syndrome 1	Enrichment	ARHGAP35	1.61
303	Macrocephaly/autism syndrome	Enrichment	PTEN	1.61
304	Hemangioma	Enrichment	PTEN	1.61
305	Acute megakaryocytic leukemia	Enrichment	PTEN	1.61
306	Herpes simplex virus encephalitis	Enrichment	TRAF3	1.61
307	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.59
308	Von hippel-lindau syndrome	Enrichment	CCND1	1.59
309	Ventricular septal defect 1	Enrichment	GATA4	1.59
310	Congenital heart defects, multiple types, 4	Enrichment	GATA4	1.59
311	Body mass index quantitative trait locus 11	Enrichment	ADCY3, GNAS	1.55
312	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	TSC2	1.54
313	Myelofibrosis	Enrichment	SRC	1.54
314	Squamous cell carcinoma, head and neck	Enrichment	EGFR	1.54
315	Renal cell carcinoma, papillary, 1	Enrichment	MTOR	1.54
316	Polycystic kidney disease 1	Enrichment	TSC2	1.54
317	Pilomyxoid astrocytoma	Enrichment	RAF1	1.54
318	Megacolon	Enrichment	AKT3	1.54
319	Hemangioma, capillary infantile	Enrichment	KDR	1.53
320	Anterior segment dysgenesis 5	Enrichment	ARHGAP35	1.53
321	Inflammatory bowel disease 25, autosomal recessive	Enrichment	RIPK1	1.53
322	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2	1.53
323	Il10-related early-onset inflammatory bowel disease	Enrichment	RIPK1	1.53
324	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.51
325	Adrenocortical carcinoma	Enrichment	CTNNB1	1.51
326	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	1.49
327	Myeloma, multiple	Enrichment	CCND1, PIK3R2	1.46
328	Brachydactyly	Enrichment	GNAS	1.44
329	Developmental and epileptic encephalopathy 14	Enrichment	PLCB1	1.44
330	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	CACNA1C	1.44
331	Polymicrogyria	Enrichment	AKT3	1.39
332	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS	1.39
333	Lennox-gastaut syndrome	Enrichment	MAPK10	1.39
334	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.39
335	Choreatic disease	Enrichment	GNAO1	1.39
336	Specific learning disability	Enrichment	MAPK1	1.35
337	Primary hyperaldosteronism	Enrichment	GNAS	1.34
338	Cardiac conduction defect	Enrichment	CACNA1C	1.31
339	Congenital long qt syndrome	Enrichment	ITPR3	1.31
340	Peters-plus syndrome	Enrichment	ARHGAP35	1.31
341	Melanoma	Enrichment	PTEN	1.31
342	Leukemia, chronic lymphocytic	Enrichment	CCND1	1.29
343	Aortic valve disease 1	Enrichment	SOS1	1.28
344	Acute promyelocytic leukemia	Enrichment	STAT5B	1.28
345	Nk-cell enteropathy	Enrichment	PIK3CB	1.28
346	Immune deficiency disease	Enrichment	RIPK1	1.27
347	Meningioma, familial	Enrichment	PTEN	1.27
348	46,xy complete gonadal dysgenesis	Enrichment	MAP3K1	1.27
349	Uterine corpus cancer	Enrichment	PTEN	1.27
350	Autism	Enrichment	CAMK2G, TCF7L2	1.26
351	Movement disease	Enrichment	GNAO1	1.25
352	Multiple sclerosis	Enrichment	ITPR1	1.25
353	Lung cancer susceptibility 3	Enrichment	EGFR	1.25
354	Renal cell carcinoma, nonpapillary	Enrichment	MTOR	1.22
355	Anterior segment dysgenesis	Enrichment	ITPR1	1.22
356	Lynch syndrome	Enrichment	PIK3CA	1.22
357	Autosomal dominant polycystic kidney disease	Enrichment	TSC2	1.22
358	Rare genetic intellectual disability	Enrichment	MTOR	1.22
359	Neural tube defects	Enrichment	ITGB1	1.20
360	Gliosarcoma	Enrichment	EGFR	1.19
361	Sudden infant death syndrome	Enrichment	CALM2	1.17
362	Giant cell glioblastoma	Enrichment	EGFR	1.17
363	Medulloblastoma	Enrichment	CTNNB1	1.15
364	Aortic aneurysm, familial thoracic 1	Enrichment	GATA4	1.15
365	Heart disease	Enrichment	GATA4	1.15
366	Autism spectrum disorder	Enrichment	MAP2K1, TSC2	1.13
367	Arteriovenous malformations of the brain	Enrichment	EGFR	1.12
368	Polycystic liver disease	Enrichment	CTNNB1	1.07
369	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	1.07
370	Patent foramen ovale	Enrichment	GATA4	1.04
371	Early infantile developmental and epileptic encephalopathy	Enrichment	GNAO1	1.04
372	Diffuse large b-cell lymphoma	Enrichment	PTEN	1.04
373	Hydrops fetalis, nonimmune	Enrichment	HRAS	0.99
374	Brugada syndrome	Enrichment	CACNA1C	0.99
375	Inherited cancer-predisposing syndrome	Enrichment	EGFR, TSC2	0.99
376	Hepatoblastoma	Enrichment	CTNNB1	0.98
377	Multisystem inflammatory syndrome in children	Enrichment	TRAF3	0.98
378	Differentiated thyroid carcinoma	Enrichment	HRAS	0.95
379	Familial atrial fibrillation	Enrichment	GATA4	0.93
380	Non-immune hydrops fetalis	Enrichment	HRAS	0.92
381	Tetralogy of fallot	Enrichment	KDR	0.91
382	Developmental and epileptic encephalopathy 1	Enrichment	GNAO1	0.91
383	Cystic fibrosis	Enrichment	EDNRA	0.91
384	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.89
385	Left ventricular noncompaction	Enrichment	RAF1	0.87
386	Dystonia	Enrichment	CAMK2B	0.87
387	Cerebral palsy	Enrichment	CACNA1C	0.83
388	Benign epilepsy with centrotemporal spikes	Enrichment	PLCB1	0.81
389	Centralopathic epilepsy	Enrichment	PLCB1	0.79
390	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	COL1A1	0.78
391	Developmental and epileptic encephalopathy	Enrichment	GNAO1	0.76
392	Thrombocytopenia	Enrichment	SRC	0.74
393	Nephrotic syndrome	Enrichment	FN1	0.71
394	Spastic ataxia	Enrichment	ITPR1	0.71
395	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.71
396	Cone-rod dystrophy 2	Enrichment	ADAM9	0.61
397	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	GATA4	0.59
398	Primary ovarian insufficiency	Enrichment	KDR	0.59
399	Dilated cardiomyopathy	Enrichment	RAF1	0.55
400	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADCY1	0.43
401	Complex neurodevelopmental disorder	Enrichment	CACNA1C	0.40
402	Retinitis pigmentosa	Enrichment	ADAM9	0.23
403	Hereditary retinal dystrophy	Enrichment	ADAM9	0.15
404	Fundus dystrophy	Enrichment	ADAM9	0.15

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 Endothelin-1/EDNRA transactivation of EGFR

Pathway Network for Development Endothelin-1/EDNRA transactivation of EGFR

Pathway network for the Development Endothelin-1/EDNRA transactivation of EGFR SuperPath

Member Pathways for Development Endothelin-1/EDNRA transactivation of EGFR

Pathways in the Development Endothelin-1/EDNRA transactivation of EGFR SuperPath

Gene overlap in member pathways for Development Endothelin-1/EDNRA transactivation of EGFR SuperPath

Associated Genes for Development Endothelin-1/EDNRA transactivation of EGFR

Associated Disorders for Development Endothelin-1/EDNRA transactivation of EGFR

Disorders associated with Development Endothelin-1/EDNRA transactivation of EGFR SuperPath

STRING Interaction Network for Development Endothelin-1/EDNRA transactivation of EGFR

Sources for Development Endothelin-1/EDNRA transactivation of EGFR