Development Angiotensin activation of ERK

Pathway network for the Development Angiotensin activation of ERK SuperPath

Sources:

GeneGo (Thomson Reuters)

Pathways in the Development Angiotensin activation of ERK SuperPath

#	Name	Source	Genes
1	Development Angiotensin activation of ERK	GeneGo (Thomson Reuters)	ADAM12 AGT AGTR1 CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G EGFR ELK1 FOS GNA11 GNAI1 GNAI2 GNAI3 GNAO1 GNAQ GNAZ GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GRB2 HBEGF HRAS ITPR1 ITPR2 ITPR3 MAP2K1 MAP2K2 MAPK1 MAPK3 PLCB1 PLCB2 PLCB3 PLCB4 PRKCD PTK2B RAF1 SHC1 SOS1 SOS2 SRC (see all 58) (see less)
2	Signal transduction IP3 signaling	GeneGo (Thomson Reuters)	ADORA2A ADORA2B ADORA3 AKT1 AKT2 AKT3 CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CAMK4 CAMKK1 CAMKK2 CD247 CD3D CD3E CD3G CD79A CD79B CREB1 ELK1 GNA11 GNAQ GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GRB2 HDAC5 HRAS IGH IGHM IGHV3-23 IGK IGKC IGKJ IGKV@ IGL IGLJ IGLV@ ITPR1 ITPR2 ITPR3 LAT MAP2K1 MAP2K2 MAPK1 MAPK3 MEF2A MEF2B MEF2C MEF2D MET P2RY1 P2RY11 P2RY2 P2RY4 P2RY6 PDGFRA PDGFRB PDPK1 PIK3CA PIK3CB PIK3CD PIK3R1 PIK3R2 PIK3R3 PLCB1 PLCB2 PLCB3 PLCB4 PLCE1 PLCG1 PRKCE PRKCG RAF1 SHC1 SOS1 SOS2 SYK TRA TRAC TRAJ18 TRAV24 TRB TRBV11-1 TRBV11-2 TRBV11-3 TRBV17 ZAP70 (see all 106) (see less)
3	Cell adhesion Integrin inside-out signaling	GeneGo (Thomson Reuters)	ACTB ACTG1 AGT AGTR1 CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CIB1 COL1A1 COL1A2 COL2A1 CXCL12 CXCR4 CYTH1 CYTH3 F2 F2R F2RL3 FGA FGB FGG FN1 GNA11 GNA12 GNA13 GNAI1 GNAI2 GNAI3 GNAO1 GNAQ GNAZ GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 ITGA1 ITGA10 ITGA2 ITGA2B ITGA5 ITGAL ITGAV ITGB1 ITGB1BP1 ITGB2 ITGB3 ITGB3BP ITPR1 ITPR2 ITPR3 MAPK1 MAPK3 PIK3CG PIP5K1C PLCB1 PLCB2 PLCB3 PLCB4 PRKCE PTK2 SRC TBXA2R TLN1 TLN2 (see all 81) (see less)
4	Development G-Proteins mediated regulation MARK-ERK signaling	GeneGo (Thomson Reuters)	ADCY1 BRAF CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G ELK1 FOS GMFB GNA11 GNA12 GNA13 GNAI1 GNAI2 GNAI3 GNAO1 GNAQ GNAS GNAZ GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GRB2 HRAS ITPR1 ITPR2 ITPR3 MAP2K1 MAP2K2 MAPK1 MAPK3 MRAS PLCB1 PLCB2 PLCB3 PLCB4 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCE PTK2B RAF1 RAP1A RAP1GAP RAPGEF3 RAPGEF5 RASA2 RRAS SHC1 SOS1 SOS2 SRC SYNGAP1 (see all 74) (see less)
5	Development EDNRB signaling	GeneGo (Thomson Reuters)	AKT1 AKT2 AKT3 ATF1 BRAF CAV1 CREB1 EDN1 EDN3 EDNRB ELK1 FOS GNA11 GNAI1 GNAI2 GNAI3 GNAO1 GNAQ GNAZ GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GRB2 GUCY1A1 GUCY1A2 GUCY1B1 GUCY1B2 HRAS ITPR1 ITPR2 ITPR3 MAP2K1 MAP2K2 MAPK1 MAPK3 NOS3 PIK3CG PIK3R5 PLCB1 PLCB2 PLCB3 PLCB4 PRKCE PRKG1 PRKG2 RAF1 RAP1A RASGRP2 RPS6KA2 RPS6KA3 SHC1 SOS1 SOS2 SRC (see all 68) (see less)
6	Development Angiotensin signaling via PYK2	GeneGo (Thomson Reuters)	AGT AGTR1 ATF2 BCAR1 CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G ELK1 FOS GNA11 GNAQ GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GRB2 HRAS ITPR1 ITPR2 ITPR3 JUN MAP2K1 MAP2K2 MAP2K4 MAP3K1 MAPK1 MAPK10 MAPK3 MAPK8 MAPK9 PAK1 PIK3R1 PIK3R2 PIK3R3 PLCB1 PLCB2 PLCB3 PLCB4 PLCG1 PRKCD PRKCE PTK2B RAC1 RAF1 SHC1 SOS1 SOS2 SRC VAV1 (see all 66) (see less)
7	Development ACM2 and ACM4 activation of ERK	GeneGo (Thomson Reuters)	CALD1 CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CHRM2 CHRM4 CREB1 EGFR EGR1 ELK1 FOS FYN GNAI1 GNAI2 GNAI3 GNAO1 GNAZ GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GRB2 HRAS ITPR1 ITPR2 ITPR3 MAP2K1 MAP2K2 MAPK1 MAPK3 PIK3CG PLCB1 PLCB2 PLCB3 PLCB4 PRKCA PRKCD PRKCE PTK2B RAF1 RAP1A RAP1GAP RPS6KA1 SHC1 SOS1 SOS2 (see all 63) (see less)
8	Development EPO-induced MAPK pathway	GeneGo (Thomson Reuters)	BTK CBL CRKL ELK1 EPO EPOR FOS GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GRB2 HRAS INPP5D ITPR1 ITPR2 ITPR3 JAK2 JUN KIT KITLG KRAS LYN MAP2K1 MAP2K2 MAPK1 MAPK10 MAPK3 MAPK8 MAPK9 NRAS PAK1 PAK3 PIK3CG PLCG1 PLCG2 PRKCA PRKCE RAC1 RAF1 RAP1A RAPGEF1 SHC1 SOS1 SOS2 SYK VAV1 (see all 60) (see less)

Gene overlap in member pathways for Development Angiotensin activation of ERK SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	GNB1	G Protein Subunit Beta 1	Protein Coding	8
2	GNB2	G Protein Subunit Beta 2	Protein Coding	8
3	GNB3	G Protein Subunit Beta 3	Protein Coding	8
4	GNG3	G Protein Subunit Gamma 3	Protein Coding	8
5	GNG4	G Protein Subunit Gamma 4	Protein Coding	8
6	GNG5	G Protein Subunit Gamma 5	Protein Coding	8
7	GNG7	G Protein Subunit Gamma 7	Protein Coding	8
8	GNG10	G Protein Subunit Gamma 10	Protein Coding	8
9	GNG11	G Protein Subunit Gamma 11	Protein Coding	8
10	GNGT1	G Protein Subunit Gamma Transducin 1	Protein Coding	8
11	GNGT2	G Protein Subunit Gamma Transducin 2	Protein Coding	8
12	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	8
13	ITPR2	Inositol 1,4,5-Trisphosphate Receptor Type 2	Protein Coding	8
14	ITPR3	Inositol 1,4,5-Trisphosphate Receptor Type 3	Protein Coding	8
15	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	8
16	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	8
17	GNB5	G Protein Subunit Beta 5	Protein Coding	8
18	GNG13	G Protein Subunit Gamma 13	Protein Coding	8
19	GNG2	G Protein Subunit Gamma 2	Protein Coding	8
20	GNG12	G Protein Subunit Gamma 12	Protein Coding	8
21	GNB4	G Protein Subunit Beta 4	Protein Coding	8
22	GNG8	G Protein Subunit Gamma 8	Protein Coding	8
23	ELK1	ETS Transcription Factor ELK1	Protein Coding	7
24	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	7
25	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	7
26	PLCB2	Phospholipase C Beta 2	Protein Coding	7
27	PLCB3	Phospholipase C Beta 3	Protein Coding	7
28	PLCB4	Phospholipase C Beta 4	Protein Coding	7
29	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	7
30	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	7
31	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	7
32	SHC1	SHC Adaptor Protein 1	Protein Coding	7
33	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	7
34	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	7
35	PLCB1	Phospholipase C Beta 1	Protein Coding	7
36	PRKCE	Protein Kinase C Epsilon	Protein Coding	7
37	CALM1	Calmodulin 1	Protein Coding	6
38	CALM2	Calmodulin 2	Protein Coding	6
39	CALM3	Calmodulin 3	Protein Coding	6
40	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	6
41	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	6
42	CAMK2D	Calcium/Calmodulin Dependent Protein Kinase II Delta	Protein Coding	6
43	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	6
44	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	6
45	GNA11	G Protein Subunit Alpha 11	Protein Coding	6
46	GNAQ	G Protein Subunit Alpha Q	Protein Coding	6
47	GNAI1	G Protein Subunit Alpha I1	Protein Coding	5
48	GNAI2	G Protein Subunit Alpha I2	Protein Coding	5
49	GNAI3	G Protein Subunit Alpha I3	Protein Coding	5
50	GNAO1	G Protein Subunit Alpha O1	Protein Coding	5
51	GNAZ	G Protein Subunit Alpha Z	Protein Coding	5
52	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	5
53	PTK2B	Protein Tyrosine Kinase 2 Beta	Protein Coding	4
54	PIK3CG	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma	Protein Coding	4
55	RAP1A	RAP1A, Member Of RAS Oncogene Family	Protein Coding	4
56	AGT	Angiotensinogen	Protein Coding	3
57	AGTR1	Angiotensin II Receptor Type 1	Protein Coding	3
58	PRKCD	Protein Kinase C Delta	Protein Coding	3
59	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	3
60	PLCG1	Phospholipase C Gamma 1	Protein Coding	3
61	EGFR	Epidermal Growth Factor Receptor	Protein Coding	2
62	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	2
63	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	2
64	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	2
65	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	2
66	SYK	Spleen Associated Tyrosine Kinase	Protein Coding	2
67	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	2
68	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	2
69	GNA12	G Protein Subunit Alpha 12	Protein Coding	2
70	GNA13	G Protein Subunit Alpha 13	Protein Coding	2
71	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
72	RAP1GAP	RAP1 GTPase Activating Protein	Protein Coding	2
73	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	2
74	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	2
75	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	2
76	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	2
77	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	2
78	RAC1	Rac Family Small GTPase 1	Protein Coding	2
79	VAV1	Vav Guanine Nucleotide Exchange Factor 1	Protein Coding	2
80	PRKCA	Protein Kinase C Alpha	Protein Coding	2
81	HBEGF	Heparin Binding EGF Like Growth Factor	Protein Coding	1
82	ADAM12	ADAM Metallopeptidase Domain 12	Protein Coding	1
83	ADORA2A	Adenosine A2a Receptor	Protein Coding	1
84	ADORA2B	Adenosine A2b Receptor	Protein Coding	1
85	ADORA3	Adenosine A3 Receptor	Protein Coding	1
86	CAMK4	Calcium/Calmodulin Dependent Protein Kinase IV	Protein Coding	1
87	CD3D	CD3 Delta Subunit Of T-Cell Receptor Complex	Protein Coding	1
88	CD3E	CD3 Epsilon Subunit Of T-Cell Receptor Complex	Protein Coding	1
89	CD3G	CD3 Gamma Subunit Of T-Cell Receptor Complex	Protein Coding	1
90	CD247	CD247 Molecule	Protein Coding	1
91	CD79A	CD79a Molecule	Protein Coding	1
92	CD79B	CD79b Molecule	Protein Coding	1
93	IGH	Immunoglobulin Heavy Locus	Protein Coding	1
94	IGHM	Immunoglobulin Heavy Constant Mu	Protein Coding	1
95	IGKC	Immunoglobulin Kappa Constant	Protein Coding	1
96	IGKV@	Immunoglobulin Kappa Variable Cluster	Gene Cluster	1
97	IGL	Immunoglobulin Lambda Locus	Protein Coding	1
98	IGLV@	Immunoglobulin Lambda Variable Cluster	Gene Cluster	1
99	MEF2A	Myocyte Enhancer Factor 2A	Protein Coding	1
100	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	1
101	MEF2D	Myocyte Enhancer Factor 2D	Protein Coding	1
102	MET	MET Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	1
103	P2RY1	Purinergic Receptor P2Y1	Protein Coding	1
104	P2RY2	Purinergic Receptor P2Y2	Protein Coding	1
105	P2RY4	Pyrimidinergic Receptor P2Y4	Protein Coding	1
106	P2RY6	Pyrimidinergic Receptor P2Y6	Protein Coding	1
107	P2RY11	Purinergic Receptor P2Y11	Protein Coding	1
108	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	1
109	PDGFRB	Platelet Derived Growth Factor Receptor Beta	Protein Coding	1
110	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
111	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1
112	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	1
113	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	1
114	PRKCG	Protein Kinase C Gamma	Protein Coding	1
115	TRA	T Cell Receptor Alpha Locus	Protein Coding	1
116	TRB	T Cell Receptor Beta Locus	Protein Coding	1
117	ZAP70	Zeta Chain Of T Cell Receptor Associated Protein Kinase 70	Protein Coding	1
118	IGKJ	Immunoglobulin Kappa Joining Cluster	Genetic Locus	1
119	IGLJ	Immunoglobulin Lambda Joining Cluster	Genetic Locus	1
120	HDAC5	Histone Deacetylase 5	Protein Coding	1
121	CAMKK2	Calcium/Calmodulin Dependent Protein Kinase Kinase 2	Protein Coding	1
122	LAT	Linker For Activation Of T Cells	Protein Coding	1
123	IGHV3-23	Immunoglobulin Heavy Variable 3-23	Protein Coding	1
124	TRBV17	T Cell Receptor Beta Variable 17 (Non-Functional)	Protein Coding	1
125	TRBV11-3	T Cell Receptor Beta Variable 11-3	Protein Coding	1
126	TRBV11-2	T Cell Receptor Beta Variable 11-2	Protein Coding	1
127	TRBV11-1	T Cell Receptor Beta Variable 11-1	Protein Coding	1
128	TRAV24	T Cell Receptor Alpha Variable 24	Protein Coding	1
129	TRAJ18	T Cell Receptor Alpha Joining 18	Protein Coding	1
130	TRAC	T Cell Receptor Alpha Constant	Protein Coding	1
131	IGK	Immunoglobulin Kappa Locus	Protein Coding	1
132	PLCE1	Phospholipase C Epsilon 1	Protein Coding	1
133	CAMKK1	Calcium/Calmodulin Dependent Protein Kinase Kinase 1	Protein Coding	1
134	MEF2B	Myocyte Enhancer Factor 2B	Protein Coding	1
135	ACTB	Actin Beta	Protein Coding	1
136	ACTG1	Actin Gamma 1	Protein Coding	1
137	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	1
138	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	1
139	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	1
140	F2	Coagulation Factor II, Thrombin	Protein Coding	1
141	F2R	Coagulation Factor II Thrombin Receptor	Protein Coding	1
142	FGA	Fibrinogen Alpha Chain	Protein Coding	1
143	FGB	Fibrinogen Beta Chain	Protein Coding	1
144	FGG	Fibrinogen Gamma Chain	Protein Coding	1
145	FN1	Fibronectin 1	Protein Coding	1
146	ITGA1	Integrin Subunit Alpha 1	Protein Coding	1
147	ITGA2	Integrin Subunit Alpha 2	Protein Coding	1
148	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	1
149	ITGA5	Integrin Subunit Alpha 5	Protein Coding	1
150	ITGAL	Integrin Subunit Alpha L	Protein Coding	1
151	ITGAV	Integrin Subunit Alpha V	Protein Coding	1
152	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
153	ITGB2	Integrin Subunit Beta 2	Protein Coding	1
154	ITGB3	Integrin Subunit Beta 3	Protein Coding	1
155	PTK2	Protein Tyrosine Kinase 2	Protein Coding	1
156	CXCL12	C-X-C Motif Chemokine Ligand 12	Protein Coding	1
157	TBXA2R	Thromboxane A2 Receptor	Protein Coding	1
158	TLN1	Talin 1	Protein Coding	1
159	CXCR4	C-X-C Motif Chemokine Receptor 4	Protein Coding	1
160	ITGA10	Integrin Subunit Alpha 10	Protein Coding	1
161	F2RL3	F2R Like Thrombin Or Trypsin Receptor 3	Protein Coding	1
162	CYTH3	Cytohesin 3	Protein Coding	1
163	CYTH1	Cytohesin 1	Protein Coding	1
164	ITGB1BP1	Integrin Subunit Beta 1 Binding Protein 1	Protein Coding	1
165	CIB1	Calcium And Integrin Binding 1	Protein Coding	1
166	PIP5K1C	Phosphatidylinositol-4-Phosphate 5-Kinase Type 1 Gamma	Protein Coding	1
167	ITGB3BP	Integrin Subunit Beta 3 Binding Protein	Protein Coding	1
168	TLN2	Talin 2	Protein Coding	1
169	ADCY1	Adenylate Cyclase 1	Protein Coding	1
170	GMFB	Glia Maturation Factor Beta	Protein Coding	1
171	GNAS	GNAS Complex Locus	Protein Coding	1
172	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
173	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	1
174	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	1
175	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	1
176	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	1
177	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	1
178	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	1
179	RASA2	RAS P21 Protein Activator 2	Protein Coding	1
180	RRAS	RAS Related	Protein Coding	1
181	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	1
182	RAPGEF5	Rap Guanine Nucleotide Exchange Factor 5	Protein Coding	1
183	RAPGEF3	Rap Guanine Nucleotide Exchange Factor 3	Protein Coding	1
184	MRAS	Muscle RAS Oncogene Homolog	Protein Coding	1
185	ATF1	Activating Transcription Factor 1	Protein Coding	1
186	CAV1	Caveolin 1	Protein Coding	1
187	EDN1	Endothelin 1	Protein Coding	1
188	EDN3	Endothelin 3	Protein Coding	1
189	EDNRB	Endothelin Receptor Type B	Protein Coding	1
190	GUCY1B2	Guanylate Cyclase 1 Soluble Subunit Beta 2 (Pseudogene)	Pseudogene	1
191	GUCY1A2	Guanylate Cyclase 1 Soluble Subunit Alpha 2	Protein Coding	1
192	GUCY1A1	Guanylate Cyclase 1 Soluble Subunit Alpha 1	Protein Coding	1
193	GUCY1B1	Guanylate Cyclase 1 Soluble Subunit Beta 1	Protein Coding	1
194	NOS3	Nitric Oxide Synthase 3	Protein Coding	1
195	PRKG1	Protein Kinase CGMP-Dependent 1	Protein Coding	1
196	PRKG2	Protein Kinase CGMP-Dependent 2	Protein Coding	1
197	RPS6KA2	Ribosomal Protein S6 Kinase A2	Protein Coding	1
198	RPS6KA3	Ribosomal Protein S6 Kinase A3	Protein Coding	1
199	RASGRP2	RAS Guanyl Releasing Protein 2	Protein Coding	1
200	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	1
201	ATF2	Activating Transcription Factor 2	Protein Coding	1
202	MAP3K1	Mitogen-Activated Protein Kinase Kinase Kinase 1	Protein Coding	1
203	MAP2K4	Mitogen-Activated Protein Kinase Kinase 4	Protein Coding	1
204	BCAR1	BCAR1 Scaffold Protein, Cas Family Member	Protein Coding	1
205	CALD1	Caldesmon 1	Protein Coding	1
206	CHRM2	Cholinergic Receptor Muscarinic 2	Protein Coding	1
207	CHRM4	Cholinergic Receptor Muscarinic 4	Protein Coding	1
208	EGR1	Early Growth Response 1	Protein Coding	1
209	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
210	RPS6KA1	Ribosomal Protein S6 Kinase A1	Protein Coding	1
211	BTK	Bruton Tyrosine Kinase	Protein Coding	1
212	CBL	Cbl Proto-Oncogene	Protein Coding	1
213	CRKL	CRK Like Proto-Oncogene, Adaptor Protein	Protein Coding	1
214	EPO	Erythropoietin	Protein Coding	1
215	EPOR	Erythropoietin Receptor	Protein Coding	1
216	RAPGEF1	Rap Guanine Nucleotide Exchange Factor 1	Protein Coding	1
217	INPP5D	Inositol Polyphosphate-5-Phosphatase D	Protein Coding	1
218	JAK2	Janus Kinase 2	Protein Coding	1
219	KIT	KIT Proto-Oncogene, Receptor Tyrosine Kinase	Protein Coding	1
220	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1
221	LYN	LYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
222	KITLG	KIT Ligand	Protein Coding	1
223	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	1
224	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	1
225	PLCG2	Phospholipase C Gamma 2	Protein Coding	1

Disorders associated with Development Angiotensin activation of ERK SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Rasopathy	Enrichment	BRAF, HRAS, MAP2K1, MAP2K2, MRAS, RAF1, SOS1, SOS2	16.00
2	Noonan syndrome 1	Enrichment	CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1, SOS2	10.66
3	Noonan syndrome and noonan-related syndrome	Enrichment	CBL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, RAF1, SOS1	10.46
4	Autosomal non-syndromic agammaglobulinemia	Enrichment	CD79A, CD79B, IGHM, PIK3CD, PIK3R1	8.19
5	Noonan syndrome 3	Enrichment	HRAS, KRAS, RAF1, SOS1	7.92
6	Lung non-small cell carcinoma	Enrichment	HRAS, KRAS, MAP2K1, NRAS	6.95
7	Dysfibrinogenemia, congenital	Enrichment	FGA, FGB, FGG	6.69
8	Familial dysfibrinogenemia	Enrichment	FGA, FGB, FGG	6.69
9	Familial hypofibrinogenemia	Enrichment	FGA, FGB, FGG	6.69
10	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	6.48
11	Cardiofaciocutaneous syndrome 1	Enrichment	KRAS, MAP2K1, MAP2K2	6.48
12	Cardiofaciocutaneous syndrome	Enrichment	KRAS, MAP2K1, MAP2K2	6.48
13	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	GNA11, PIK3CA, PIK3R1	6.33
14	T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta	Enrichment	CD247, CD3D, CD3E	6.33
15	Auriculocondylar syndrome 1	Enrichment	EDN1, GNAI3, PLCB4	6.32
16	Afibrinogenemia, congenital	Enrichment	FGA, FGB, FGG	6.09
17	Melanoma, uveal	Enrichment	GNA11, GNAQ, PLCB4	5.83
18	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	5.73
19	Nevus, epidermal	Enrichment	HRAS, KRAS, NRAS	5.55
20	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGA2, ITGA2B, ITGB3	5.39
21	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	5.39
22	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, NRAS, RAF1	5.34
23	Capillary malformations, congenital	Enrichment	GNA11, GNAQ, PIK3CA	5.34
24	Severe combined immunodeficiency	Enrichment	CD247, CD3D, CD3E, CD3G, ZAP70	5.28
25	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3, ITPR3	5.12
26	Juvenile myelomonocytic leukemia	Enrichment	CBL, KRAS, NRAS	4.75
27	Phakomatosis cesioflammea	Enrichment	GNA11, GNAQ	4.75
28	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	4.72
29	Pulmonic stenosis	Enrichment	BRAF, SOS1	4.61
30	Leukemia, acute myeloid	Enrichment	JAK2, KIT, KRAS, NRAS	4.55
31	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS, PRKAR1A	4.53
32	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	COL2A1, FN1	4.45
33	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	COL2A1, FN1	4.45
34	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	4.45
35	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB, ACTG1	4.45
36	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	4.45
37	Arteriovenous malformation	Enrichment	HRAS, MAP2K1, PIK3CA	4.42
38	Hypertension, essential	Enrichment	AGT, AGTR1, GNB3	4.32
39	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1, PIK3CA	4.27
40	Anastomosing haemangioma	Enrichment	GNA11, GNAQ	4.27
41	Langerhans cell histiocytosis	Enrichment	MAP2K1, NRAS	4.24
42	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	4.24
43	Immunoglobulin kappa light chain deficiency	Enrichment	IGK, IGKC	4.22
44	Osteoporosis	Enrichment	COL1A1, COL1A2, SRC	4.15
45	Melanoma of soft tissue	Enrichment	ATF1, CREB1	4.13
46	Microcephaly	Enrichment	ACTB, ACTG1, CAMK2B, GNAO1, GNB1, MAPK1	4.04
47	Bleeding disorder, platelet-type, 16	Enrichment	ITGA2B, ITGB3	3.98
48	High bone mass osteogenesis imperfecta	Enrichment	COL1A1, COL1A2	3.98
49	Erythrocytosis, familial, 1	Enrichment	EPOR, JAK2	3.94
50	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	CRKL, MAPK1	3.94
51	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	3.94
52	Noonan syndrome with multiple lentigines	Enrichment	BRAF, RAF1	3.83
53	Agammaglobulinemia 1, autosomal recessive	Enrichment	IGH, IGHM	3.74
54	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	3.74
55	Agammaglobulinemia 1	Enrichment	IGH, IGHM	3.74
56	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	3.74
57	Immunodeficiency 7	Enrichment	TRA, TRAC	3.74
58	Recurrent infections associated with rare immunoglobulin isotypes deficiency	Enrichment	IGK, IGKC	3.74
59	Thrombocytopenia	Enrichment	FGG, ITGA2B, ITGB3, SRC	3.73
60	Myeloproliferative neoplasm	Enrichment	CBL, JAK2	3.72
61	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	3.68
62	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	3.68
63	Renal tubular dysgenesis	Enrichment	AGT, AGTR1	3.57
64	Differentiated thyroid carcinoma	Enrichment	HRAS, KRAS, NRAS	3.56
65	Testicular germ cell tumor	Enrichment	KIT, KITLG	3.54
66	Breast cancer	Enrichment	GNG3, JUN, KRAS, SHC1	3.48
67	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	3.44
68	Waardenburg syndrome, type 4a	Enrichment	EDN3, EDNRB	3.44
69	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, NRAS	3.40
70	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, MAP2K1	3.40
71	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	3.40
72	Pilomyxoid astrocytoma	Enrichment	KRAS, RAF1	3.40
73	Follicular thyroid carcinoma	Enrichment	HRAS, NRAS	3.40
74	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2	3.28
75	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2	3.28
76	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2	3.28
77	Hemimegalencephaly	Enrichment	AKT3, PIK3CA	3.22
78	Primary hypereosinophilic syndrome	Enrichment	PDGFRA, PDGFRB	3.22
79	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2	3.14
80	Thrombophilia due to thrombin defect	Enrichment	F2, FGA	3.14
81	Glanzmann thrombasthenia 1	Enrichment	ITGA2B, ITGB3	3.14
82	Ventricular septal defect	Enrichment	BRAF, RPS6KA3	3.06
83	Klippel-trenaunay-weber syndrome	Enrichment	GNAQ, PIK3CA	3.05
84	Breast adenocarcinoma	Enrichment	AKT1, PIK3CA	3.05
85	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	2.99
86	Primary hyperaldosteronism	Enrichment	BRAF, GNAS	2.99
87	Lip and oral cavity carcinoma	Enrichment	EGFR, HRAS	2.94
88	Autosomal dominant non-syndromic intellectual disability	Enrichment	CAMK2A, CAMK2B, GNB1	2.90
89	Specific learning disability	Enrichment	MAPK1, RPS6KA3	2.88
90	Autosomal dominant macrothrombocytopenia	Enrichment	ITGA2B, ITGB3	2.81
91	Primary bone dysplasia	Enrichment	COL1A1, COL1A2	2.81
92	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2	2.73
93	46,xy partial gonadal dysgenesis	Enrichment	MAP3K1, SOS1	2.69
94	Cowden syndrome	Enrichment	AKT1, PIK3CA	2.68
95	Rhabdomyosarcoma	Enrichment	CBL, HRAS	2.65
96	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2	2.58
97	Osteogenesis imperfecta, type iii	Enrichment	COL1A1, COL1A2	2.45
98	Meningioma	Enrichment	AKT1, PIK3CA	2.42
99	Anhidrosis, isolated, with normal sweat glands	Enrichment	ITPR2	2.37
100	Hypocalciuric hypercalcemia, familial, type ii	Enrichment	GNA11	2.37
101	Noonan syndrome 5	Enrichment	RAF1	2.37
102	Noonan syndrome 4	Enrichment	SOS1	2.37
103	Melorheostosis, isolated	Enrichment	MAP2K1	2.37
104	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.37
105	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.37
106	Noonan syndrome 9	Enrichment	SOS2	2.37
107	Neurodevelopmental disorder with involuntary movements	Enrichment	GNAO1	2.37
108	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	2.37
109	Sturge-weber syndrome	Enrichment	GNAQ	2.37
110	Ventricular tachycardia, familial	Enrichment	GNAI2	2.37
111	Neurodevelopmental disorder with hypotonia and dysmorphic facies	Enrichment	GNB2	2.37
112	Noonan syndrome 13	Enrichment	MAPK1	2.37
113	Spondylometaphyseal dysplasia with corneal dystrophy	Enrichment	PLCB3	2.37
114	Charcot-marie-tooth disease, demyelinating, type 1j	Enrichment	ITPR3	2.37
115	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	2.37
116	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	2.37
117	Auriculocondylar syndrome 2a	Enrichment	PLCB4	2.37
118	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Enrichment	GNAI1	2.37
119	Developmental and epileptic encephalopathy 17	Enrichment	GNAO1	2.37
120	Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia	Enrichment	GNB5	2.37
121	Melorheostosis	Enrichment	MAP2K1	2.37
122	Leopard syndrome 2	Enrichment	RAF1	2.37
123	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.37
124	Long qt syndrome 16	Enrichment	CALM3	2.37
125	Hypocalcemia, autosomal dominant 2	Enrichment	GNA11	2.37
126	Charcot-marie-tooth disease, dominant intermediate f	Enrichment	GNB4	2.37
127	Thrombocytopenia 6	Enrichment	SRC	2.37
128	Intellectual developmental disorder, autosomal dominant 42	Enrichment	GNB1	2.37
129	Sick sinus syndrome 4	Enrichment	GNB2	2.37
130	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	2.37
131	Trigonitis	Enrichment	RAF1	2.37
132	Auriculocondylar syndrome 2b	Enrichment	PLCB4	2.37
133	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	2.37
134	Long qt syndrome 15	Enrichment	CALM2	2.37
135	Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Enrichment	ITPR3	2.37
136	Gnao1-related disorder	Enrichment	GNAO1	2.37
137	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.37
138	Phakomatosis cesiomarmorata	Enrichment	GNA11	2.37
139	Oculoectodermal syndrome	Enrichment	KRAS	2.35
140	Intellectual developmental disorder, x-linked 30	Enrichment	PAK3	2.35
141	Mastocytosis, cutaneous	Enrichment	KIT	2.35
142	Hyperpigmentation with or without hypopigmentation, familial progressive	Enrichment	KITLG	2.35
143	Melanosis, neurocutaneous	Enrichment	NRAS	2.35
144	Noonan syndrome 6	Enrichment	NRAS	2.35
145	Microvascular complications of diabetes 2	Enrichment	EPO	2.35
146	Immunodeficiency 82 with systemic inflammation	Enrichment	SYK	2.35
147	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	2.35
148	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	2.35
149	Isolated growth hormone deficiency type iii	Enrichment	BTK	2.35
150	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	2.35
151	Skin/hair/eye pigmentation, variation in, 7	Enrichment	KITLG	2.35
152	Autoinflammation, antibody deficiency, and immune dysregulation	Enrichment	PLCG2	2.35
153	Immunodeficiency 97 with autoinflammation	Enrichment	PIK3CG	2.35
154	Familial cold autoinflammatory syndrome 3	Enrichment	PLCG2	2.35
155	Erythrocytosis, familial, 5	Enrichment	EPO	2.35
156	Autoinflammatory disease, systemic, with vasculitis	Enrichment	LYN	2.35
157	Chronic mast cell leukemia	Enrichment	KIT	2.35
158	Deafness, autosomal dominant 69	Enrichment	KITLG	2.35
159	Colitis	Enrichment	SYK	2.35
160	Isolated bone marrow mastocytosis	Enrichment	KIT	2.35
161	Congenital pulmonary airway malformation	Enrichment	KRAS	2.35
162	Smoldering systemic mastocytosis	Enrichment	KIT	2.35
163	Mastocytosis	Enrichment	KIT	2.35
164	Familial progressive hyperpigmentation	Enrichment	KITLG	2.35
165	Cutaneous mastocytoma	Enrichment	KIT	2.35
166	Typical urticaria pigmentosa	Enrichment	KIT	2.35
167	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	2.35
168	Nodular urticaria pigmentosa	Enrichment	KIT	2.35
169	Pseudoxanthomatous diffuse cutaneous mastocytosis	Enrichment	KIT	2.35
170	Telangiectasia macularis eruptiva perstans	Enrichment	KIT	2.35
171	Acute mast cell leukemia	Enrichment	KIT	2.35
172	Familial progressive hyper- and hypopigmentation	Enrichment	KITLG	2.35
173	Plaque-form urticaria pigmentosa	Enrichment	KIT	2.35
174	Neurocutaneous melanocytosis	Enrichment	NRAS	2.35
175	Bullous diffuse cutaneous mastocytosis	Enrichment	KIT	2.35
176	Testis seminoma	Enrichment	KIT	2.35
177	Colorectal cancer	Enrichment	AKT1, MET, PIK3CA, PIK3R1	2.32
178	46,xy sex reversal 6	Enrichment	MAP3K1	2.31
179	Short syndrome	Enrichment	PIK3R1	2.31
180	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.31
181	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.31
182	Proteus syndrome	Enrichment	AKT1	2.30
183	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.30
184	Coffin-lowry syndrome	Enrichment	RPS6KA3	2.30
185	Lipodystrophy, congenital generalized, type 3	Enrichment	CAV1	2.30
186	Noonan syndrome 7	Enrichment	BRAF	2.30
187	Leopard syndrome 3	Enrichment	BRAF	2.30
188	Bleeding disorder, platelet-type, 18	Enrichment	RASGRP2	2.30
189	Aortic aneurysm, familial thoracic 8	Enrichment	PRKG1	2.30
190	Hirschsprung disease 4	Enrichment	EDN3	2.30
191	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	2.30
192	Waardenburg syndrome, type 4b	Enrichment	EDN3	2.30
193	Pulmonary hypertension, primary, 3	Enrichment	CAV1	2.30
194	Auriculocondylar syndrome 3	Enrichment	EDN1	2.30
195	Spondylometaphyseal dysplasia, pagnamenta type	Enrichment	PRKG2	2.30
196	Intellectual developmental disorder, x-linked 19	Enrichment	RPS6KA3	2.30
197	Lipodystrophy, familial partial, type 7	Enrichment	CAV1	2.30
198	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.30
199	Lymphangioma	Enrichment	BRAF	2.30
200	Question mark ears, isolated	Enrichment	EDN1	2.30
201	Phace association	Enrichment	BRAF	2.30
202	Moyamoya disease 6 with or without achalasia	Enrichment	GUCY1A1	2.30
203	Cowden syndrome 6	Enrichment	AKT1	2.30
204	Moyamoya disease with early-onset achalasia	Enrichment	GUCY1A1	2.30
205	Symptomatic form of coffin-lowry syndrome in female carriers	Enrichment	RPS6KA3	2.30
206	Capillary hemangioma	Enrichment	AKT3	2.30
207	Syringocystadenoma papilliferum	Enrichment	BRAF	2.30
208	Ganglioglioma	Enrichment	BRAF	2.30
209	Nongerminomatous germ cell tumor	Enrichment	BRAF	2.30
210	Phace syndrome	Enrichment	BRAF	2.30
211	Classic hairy cell leukemia	Enrichment	BRAF	2.30
212	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.30
213	Heart, malformation of	Enrichment	COL2A1, MAPK1	2.30
214	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	2.26
215	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	2.26
216	Carney complex, type 1	Enrichment	PRKAR1A	2.26
217	Osseous heteroplasia, progressive	Enrichment	GNAS	2.26
218	Deafness, autosomal recessive 44	Enrichment	ADCY1	2.26
219	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	2.26
220	Noonan syndrome 11	Enrichment	MRAS	2.26
221	Pituitary adenoma 3, multiple types	Enrichment	GNAS	2.26
222	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	2.26
223	Myxoma, intracardiac	Enrichment	PRKAR1A	2.26
224	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.26
225	Disorders of gnas inactivation	Enrichment	GNAS	2.26
226	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.26
227	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	2.26
228	Monostotic fibrous dysplasia	Enrichment	GNAS	2.26
229	Mazabraud syndrome	Enrichment	GNAS	2.26
230	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2	2.25
231	Stickler syndrome, type i	Enrichment	COL2A1	2.22
232	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	Enrichment	COL2A1	2.22
233	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	2.22
234	Spondylometaphyseal dysplasia, algerian type	Enrichment	COL2A1	2.22
235	Baraitser-winter syndrome 1	Enrichment	ACTB	2.22
236	Osteoarthritis with mild chondrodysplasia	Enrichment	COL2A1	2.22
237	Avascular necrosis of femoral head, primary, 1	Enrichment	COL2A1	2.22
238	Czech dysplasia	Enrichment	COL2A1	2.22
239	Kniest dysplasia	Enrichment	COL2A1	2.22
240	Prothrombin deficiency, congenital	Enrichment	F2	2.22
241	Platyspondylic lethal skeletal dysplasia, torrance type	Enrichment	COL2A1	2.22
242	Spondyloepiphyseal dysplasia, stanescu type	Enrichment	COL2A1	2.22
243	Whim syndrome 1	Enrichment	CXCR4	2.22
244	Achondrogenesis, type ii	Enrichment	COL2A1	2.22
245	Fetomaternal alloimmune thrombocytopenia 2	Enrichment	ITGA2B	2.22
246	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	2.22
247	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	2.22
248	Bleeding disorder, platelet-type, 13	Enrichment	TBXA2R	2.22
249	Spondyloperipheral dysplasia	Enrichment	COL2A1	2.22
250	Becker nevus syndrome	Enrichment	ACTB	2.22
251	Dystonia-deafness syndrome 1	Enrichment	ACTB	2.22
252	Stickler syndrome, type i, nonsyndromic ocular	Enrichment	COL2A1	2.22
253	Pregnancy loss, recurrent 2	Enrichment	F2	2.22
254	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	2.22
255	Vitreoretinopathy with phalangeal epiphyseal dysplasia	Enrichment	COL2A1	2.22
256	Asphyxia neonatorum	Enrichment	COL1A1	2.22
257	Baraitser-winter syndrome	Enrichment	ACTB	2.22
258	Congenital fibrinogen deficiency	Enrichment	FGG	2.22
259	Prothrombin deficiency	Enrichment	F2	2.22
260	Autosomal dominant rhegmatogenous retinal detachment	Enrichment	COL2A1	2.22
261	Fetomaternal alloimmune thrombocytopenia 3	Enrichment	ITGA2	2.22
262	Multiple epiphyseal dysplasia with myopia and deafness	Enrichment	COL2A1	2.22
263	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	2.22
264	Hypochondrogenesis	Enrichment	COL2A1	2.22
265	Congenital smooth muscle hamartoma	Enrichment	ACTB	2.22
266	Capillary leak syndrome	Enrichment	TLN1	2.22
267	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	2.22
268	Dysspondyloenchondromatosis	Enrichment	COL2A1	2.22
269	Bleeding diathesis due to thromboxane synthesis deficiency	Enrichment	TBXA2R	2.22
270	Type 2 collagen-related bone disorder	Enrichment	COL2A1	2.22
271	Bladder cancer	Enrichment	EGFR, HRAS	2.17
272	Long qt syndrome	Enrichment	CALM1, CALM2	2.11
273	Macrodactyly	Enrichment	PIK3CA	2.11
274	Premature aging syndrome, penttinen type	Enrichment	PDGFRB	2.11
275	Hypereosinophilic syndrome, idiopathic	Enrichment	PDGFRA	2.11
276	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	2.11
277	Cowden syndrome 5	Enrichment	PIK3CA	2.11
278	Myofibromatosis, infantile, 1	Enrichment	PDGFRB	2.11
279	Gist-plus syndrome	Enrichment	PDGFRA	2.11
280	Agammaglobulinemia 3, autosomal recessive	Enrichment	CD79A	2.11
281	Cerebral cavernous malformations 4	Enrichment	PIK3CA	2.11
282	Immunodeficiency 48	Enrichment	ZAP70	2.11
283	Osteofibrous dysplasia	Enrichment	MET	2.11
284	Myeloid and lymphoid neoplasms associated with pdgfra rearrangement	Enrichment	PDGFRA	2.11
285	Immunodeficiency 18	Enrichment	CD3E	2.11
286	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Enrichment	MEF2C	2.11
287	Deafness, autosomal recessive 97	Enrichment	MET	2.11
288	Immunodeficiency 25	Enrichment	CD247	2.11
289	Hemifacial myohyperplasia	Enrichment	PIK3CA	2.11
290	Coronary artery disease, autosomal dominant, 1	Enrichment	MEF2A	2.11
291	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	2.11
292	Spinocerebellar ataxia 14	Enrichment	PRKCG	2.11
293	Autism 9	Enrichment	MET	2.11
294	Basal ganglia calcification, idiopathic, 4	Enrichment	PDGFRB	2.11
295	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	2.11
296	Myeloid and lymphoid neoplasms associated with pdgfrb rearrangement	Enrichment	PDGFRB	2.11
297	Kosaki overgrowth syndrome	Enrichment	PDGFRB	2.11
298	Autoimmune disease, multisystem, infantile-onset, 2	Enrichment	ZAP70	2.11
299	Ocular pterygium-digital keloid dysplasia syndrome	Enrichment	PDGFRB	2.11
300	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	2.11
301	Immunodeficiency 19, severe combined	Enrichment	CD3D	2.11
302	Arthrogryposis, distal, type 11	Enrichment	MET	2.11
303	Hypospadias	Enrichment	PIK3CA	2.11
304	5q14.3 microdeletion syndrome	Enrichment	MEF2C	2.11
305	Rare venous malformation	Enrichment	PIK3CA	2.11
306	B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)	Enrichment	IGH	2.11
307	Acute encephalopathy with biphasic seizures and late reduced diffusion	Enrichment	ADORA2A	2.11
308	Diaphragmatic eventration	Enrichment	PIK3CA	2.11
309	Complete atrioventricular septal defect without ventricular hypoplasia	Enrichment	MEF2C	2.11
310	Agammaglobulinemia 3	Enrichment	CD79A	2.11
311	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	2.11
312	Immunodeficiency 19	Enrichment	CD3D	2.11
313	Rare combined vascular malformation	Enrichment	PIK3CA	2.11
314	Cavernous lymphangioma	Enrichment	PIK3CA	2.11
315	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	2.11
316	Mef2c-related disorder	Enrichment	MEF2C	2.11
317	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	2.11
318	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	2.11
319	Macrodactyly of toe	Enrichment	PIK3CA	2.11
320	Zap70-related severe combined immunodeficiency	Enrichment	ZAP70	2.11
321	Ovarian cancer	Enrichment	AKT1, MET, PDGFRA, PIK3CA	2.09
322	Brittle bone disorder	Enrichment	COL1A1, COL1A2	2.09
323	Non-immune hydrops fetalis	Enrichment	HRAS, KRAS	2.08
324	Spinocerebellar ataxia 29	Enrichment	ITPR1	2.07
325	Fibromatosis, gingival, 1	Enrichment	SOS1	2.07
326	Costello syndrome	Enrichment	HRAS	2.07
327	Pituitary adenoma 4, acth-secreting	Enrichment	GNAI2	2.07
328	Cutis marmorata telangiectatica congenita	Enrichment	GNA11	2.07
329	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	2.07
330	Night blindness, congenital stationary, type 1h	Enrichment	GNB3	2.07
331	Long qt syndrome 14	Enrichment	CALM1	2.07
332	Autosomal dominant hypocalcemia	Enrichment	GNA11	2.07
333	Ocular melanoma	Enrichment	PLCB4	2.07
334	Hypopituitarism	Enrichment	GNAI2	2.07
335	Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	Enrichment	GNB5	2.07
336	Tafro syndrome	Enrichment	MAP2K2	2.07
337	Cerebral visual impairment	Enrichment	GNB1	2.07
338	Wooly hair nevus	Enrichment	HRAS	2.07
339	Ovarian germ cell cancer	Enrichment	CBL	2.05
340	Isolated growth hormone deficiency, type iii, with agammaglobulinemia	Enrichment	BTK	2.05
341	Piebald trait	Enrichment	KIT	2.05
342	Encephalocraniocutaneous lipomatosis	Enrichment	KRAS	2.05
343	Thrombocythemia 3	Enrichment	JAK2	2.05
344	Waardenburg syndrome, type 2f	Enrichment	KITLG	2.05
345	Diamond-blackfan anemia-like	Enrichment	EPO	2.05
346	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	2.05
347	Agammaglobulinemia, x-linked	Enrichment	BTK	2.05
348	Polycythemia	Enrichment	JAK2	2.05
349	Arthritis	Enrichment	SYK	2.05
350	Hypereosinophilic syndrome	Enrichment	JAK2	2.05
351	Malignant germ cell tumor of ovary	Enrichment	CBL	2.05
352	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KIT	2.05
353	Hirschsprung disease 1	Enrichment	EDN3, EDNRB	2.04
354	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	2.03
355	Dystonia	Enrichment	CAMK2B, GNB1	2.01
356	Aganglionosis, total intestinal	Enrichment	EDNRB	2.00
357	Abcd syndrome	Enrichment	EDNRB	2.00
358	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	2.00
359	Acromesomelic dysplasia 4	Enrichment	PRKG2	2.00
360	Senior-loken syndrome 7	Enrichment	AKT3	2.00
361	Bardet-biedl syndrome 16	Enrichment	AKT3	2.00
362	Congenital nervous system abnormality	Enrichment	CAMK2B, GNAO1, GNB5	1.98
363	Nervous system disease	Enrichment	CAMK2B, GNAO1, GNB5	1.98
364	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	1.96
365	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	1.96
366	Pseudopseudohypoparathyroidism	Enrichment	GNAS	1.96
367	Intellectual developmental disorder, autosomal recessive 5	Enrichment	SYNGAP1	1.96
368	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	1.96
369	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	1.96
370	Usher syndrome, type iv	Enrichment	PRKAR1A	1.96
371	Acrodysostosis	Enrichment	PRKAR1A	1.96
372	Pseudohypoparathyroidism	Enrichment	GNAS	1.96
373	Fibrolamellar carcinoma	Enrichment	PRKACA	1.96
374	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	1.96
375	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	1.96
376	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	1.96
377	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1	1.92
378	Leukocyte adhesion deficiency, type i	Enrichment	ITGB2	1.92
379	Bruck syndrome 1	Enrichment	COL1A2	1.92
380	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Enrichment	COL2A1	1.92
381	Dermatofibrosarcoma protuberans	Enrichment	COL1A1	1.92
382	Lethal congenital contracture syndrome 3	Enrichment	PIP5K1C	1.92
383	Legg-calve-perthes disease	Enrichment	COL2A1	1.92
384	Deafness, autosomal dominant 20	Enrichment	ACTG1	1.92
385	Leukocyte adhesion deficiency, type iii	Enrichment	ITGB2	1.92
386	Baraitser-winter syndrome 2	Enrichment	ACTG1	1.92
387	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Enrichment	COL2A1	1.92
388	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	1.92
389	Epidermodysplasia verruciformis 3	Enrichment	CIB1	1.92
390	Stickler syndrome, type ii	Enrichment	COL1A1	1.92
391	Familial avascular necrosis of the femoral head	Enrichment	COL2A1	1.92
392	Dentinogenesis imperfecta	Enrichment	COL1A2	1.92
393	Hepatocellular carcinoma	Enrichment	MET, PIK3CA	1.90
394	Gillespie syndrome	Enrichment	ITPR1	1.89
395	Nuchal bleb, familial	Enrichment	SOS1	1.89
396	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.89
397	Spermatocytoma	Enrichment	HRAS	1.89
398	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.89
399	Severe covid-19	Enrichment	CIB1, ITGAV	1.89
400	Polycythemia vera	Enrichment	JAK2	1.88
401	Primary polycythemia	Enrichment	EPOR	1.88
402	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK2	1.88
403	Testicular germ cell cancer	Enrichment	KIT	1.88
404	Precursor t-cell acute lymphoblastic leukemia	Enrichment	TRA, TRB	1.86
405	Ataxia-telangiectasia	Enrichment	BRAF	1.82
406	Hirschsprung disease 2	Enrichment	EDNRB	1.82
407	Tethered spinal cord syndrome	Enrichment	BRAF	1.82
408	West syndrome	Enrichment	GNAO1, PLCB1	1.82
409	Myeloproliferative disorder, chronic, with eosinophilia	Enrichment	PDGFRB	1.81
410	Agammaglobulinemia 6, autosomal recessive	Enrichment	CD79B	1.81
411	Keratosis, seborrheic	Enrichment	PIK3CA	1.81
412	Roifman-chitayat syndrome	Enrichment	PIK3CD	1.81
413	Noonan syndrome 8	Enrichment	PIK3CA	1.81
414	Infantile myofibromatosis	Enrichment	PDGFRB	1.81
415	Childhood hepatocellular carcinoma	Enrichment	MET	1.81
416	Agammaglobulinemia 6	Enrichment	CD79B	1.81
417	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	1.81
418	Papillary renal cell carcinoma	Enrichment	MET	1.81
419	Trypsinogen deficiency	Enrichment	TRB	1.81
420	Immunodeficiency 17	Enrichment	CD3G	1.81
421	Immune system disease	Enrichment	PIK3CD	1.81
422	Immunodeficiency 52	Enrichment	LAT	1.81
423	Chronic eosinophilic leukemia	Enrichment	PDGFRA	1.81
424	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	Enrichment	PDGFRA	1.81
425	Mccune-albright syndrome	Enrichment	GNAS	1.79
426	Intellectual developmental disorder, autosomal dominant 5	Enrichment	SYNGAP1	1.79
427	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	1.79
428	Spastic paraplegia 17, autosomal dominant	Enrichment	GNG3	1.77
429	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.77
430	Lipodystrophy, congenital generalized, type 2	Enrichment	GNG3	1.77
431	Spinocerebellar ataxia 15	Enrichment	ITPR1	1.77
432	Developmental and epileptic encephalopathy 12	Enrichment	PLCB1	1.77
433	Achromatopsia 4	Enrichment	GNAI3	1.77
434	Congenital generalized lipodystrophy	Enrichment	FOS	1.77
435	Epidermolytic nevus	Enrichment	HRAS	1.77
436	Gingival fibromatosis	Enrichment	SOS1	1.77
437	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.77
438	Familial sick sinus syndrome	Enrichment	GNB2	1.77
439	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	1.76
440	Budd-chiari syndrome	Enrichment	JAK2	1.76
441	Lung sarcomatoid carcinoma	Enrichment	KRAS	1.76
442	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CBL	1.76
443	Pilocytic astrocytoma	Enrichment	KRAS	1.76
444	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	KIT	1.76
445	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	KIT	1.76
446	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3	1.75
447	Spondyloepiphyseal dysplasia congenita	Enrichment	COL2A1	1.75
448	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	1.75
449	Caffey disease	Enrichment	COL1A1	1.75
450	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	1.75
451	Multiple epiphyseal dysplasia	Enrichment	COL2A1	1.75
452	Cerebral sinovenous thrombosis	Enrichment	F2	1.75
453	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF	1.70
454	Craniopharyngioma	Enrichment	BRAF	1.70
455	Newborn respiratory distress syndrome	Enrichment	BRAF	1.70
456	Histiocytoid hemangioma	Enrichment	FOS	1.67
457	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	1.66
458	Carney complex variant	Enrichment	PRKAR1A	1.66
459	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.66
460	Acute myeloid leukemia with maturation	Enrichment	KIT	1.66
461	Aggressive systemic mastocytosis	Enrichment	CBL	1.66
462	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	KIT	1.66
463	Cerebral palsy	Enrichment	F2, GNB1	1.65
464	Pompe disease, infantile-onset	Enrichment	PIK3CA	1.63
465	Nephrotic syndrome, type 3	Enrichment	PLCE1	1.63
466	Renal cell carcinoma	Enrichment	MET	1.63
467	Keratoacanthoma	Enrichment	PIK3CA	1.63
468	Phenylketonuria	Enrichment	COL1A1	1.63
469	Aminoacylase 1 deficiency	Enrichment	ACTB	1.63
470	Inherited epidermodysplasia verruciformis	Enrichment	CIB1	1.63
471	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB	1.63
472	Alzheimer disease 2	Enrichment	NOS3	1.61
473	Pre-eclampsia	Enrichment	NOS3	1.61
474	Diffuse cutaneous systemic sclerosis	Enrichment	CAV1	1.61
475	Cowden syndrome 1	Enrichment	EGFR	1.60
476	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	1.60
477	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	1.60
478	Lung squamous cell carcinoma	Enrichment	EGFR	1.60
479	Lung cancer	Enrichment	MET, PIK3CA	1.59
480	Autosomal dominant secondary polycythemia	Enrichment	EPO	1.58
481	Amyloidosis, hereditary systemic 2	Enrichment	FGA	1.53
482	Retinal detachment	Enrichment	COL2A1	1.53
483	Glanzmann thrombasthenia 2	Enrichment	ITGB3	1.53
484	Coloboma of choroid and retina	Enrichment	ACTG1	1.53
485	Myelofibrosis	Enrichment	SRC	1.53
486	Squamous cell carcinoma, head and neck	Enrichment	EGFR	1.53
487	Moyamoya disease 1	Enrichment	GUCY1A1	1.53
488	Wilms tumor 5	Enrichment	BRAF	1.53
489	Limited scleroderma	Enrichment	CAV1	1.53
490	Waardenburg syndrome	Enrichment	EDNRB	1.53
491	Gastrointestinal stromal tumor	Enrichment	KIT	1.51
492	Waardenburg syndrome, type 2e	Enrichment	KITLG	1.51
493	Essential thrombocythemia	Enrichment	JAK2	1.51
494	Gallbladder cancer	Enrichment	KRAS	1.51
495	Mantle cell lymphoma	Enrichment	IGH	1.51
496	Hereditary ataxia	Enrichment	PRKCG	1.51
497	Cerebrovascular disease	Enrichment	PIK3CA	1.51
498	Familial cerebral cavernous malformations	Enrichment	PIK3CA	1.51
499	Adrenocortical carcinoma	Enrichment	PRKAR1A	1.49
500	Overgrowth syndrome	Enrichment	PIK3R1	1.47
501	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	1.47
502	Hypothyroidism	Enrichment	GNB1	1.47
503	Choreatic disease	Enrichment	GNAO1	1.47
504	Megacolon	Enrichment	AKT3	1.46
505	Lennox-gastaut syndrome	Enrichment	MAPK10	1.46
506	Developmental dysplasia of the hip 1	Enrichment	COL2A1	1.45
507	Keratoconus	Enrichment	COL1A1	1.45
508	Brachydactyly	Enrichment	GNAS	1.43
509	Developmental and epileptic encephalopathy 14	Enrichment	PLCB1	1.42
510	Lymphoma, mucosa-associated lymphoid type	Enrichment	IGH	1.41
511	Vitamin d-dependent rickets, type 2a	Enrichment	TRB	1.41
512	Follicular lymphoma	Enrichment	IGH	1.41
513	Leukemia, acute lymphoblastic 3	Enrichment	JAK2	1.41
514	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	1.41
515	Gastroesophageal reflux	Enrichment	RPS6KA3	1.40
516	Lymphoma, non-hodgkin, familial	Enrichment	BRAF	1.40
517	Orthostatic intolerance	Enrichment	RPS6KA3	1.40
518	Multiple enchondromatosis, maffucci type	Enrichment	COL2A1	1.39
519	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS	1.37
520	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF	1.35
521	Congenital central hypoventilation syndrome	Enrichment	EDN3	1.35
522	Hemihyperplasia, isolated	Enrichment	PIK3CA	1.34
523	Leukemia, acute lymphoblastic	Enrichment	GNB1	1.34
524	Myelodysplastic syndrome	Enrichment	GNB1	1.34
525	Movement disease	Enrichment	GNAO1	1.34
526	Hereditary breast carcinoma	Enrichment	AKT1, PIK3CA	1.33
527	Immune deficiency disease	Enrichment	SYK	1.32
528	Myoclonic-atonic epilepsy	Enrichment	SYNGAP1	1.32
529	Stroke, ischemic	Enrichment	NOS3	1.31
530	Polymicrogyria	Enrichment	AKT3	1.31
531	Melanoma	Enrichment	BRAF	1.31
532	Congenital long qt syndrome	Enrichment	ITPR3	1.30
533	46,xy complete gonadal dysgenesis	Enrichment	MAP3K1	1.28
534	Renal cell carcinoma, papillary, 1	Enrichment	MET	1.27
535	Oligoarticular juvenile idiopathic arthritis	Enrichment	CD247	1.27
536	Rheumatoid factor-negative juvenile idiopathic arthritis	Enrichment	CD247	1.27
537	Autism spectrum disorder	Enrichment	GNB1, MAP2K1, MEF2C	1.27
538	Heritable pulmonary arterial hypertension	Enrichment	CAV1	1.27
539	Aortic valve disease 1	Enrichment	SOS1	1.27
540	Protein-deficiency anemia	Enrichment	NRAS	1.25
541	Cat eye syndrome	Enrichment	ACTG1	1.24
542	Marfan syndrome	Enrichment	COL2A1	1.24
543	Stickler syndrome	Enrichment	COL2A1	1.24
544	Multiple sclerosis	Enrichment	ITPR1	1.23
545	Lung cancer susceptibility 3	Enrichment	EGFR	1.23
546	Arthrogryposis, distal, type 1a	Enrichment	MET	1.22
547	Narcolepsy 1	Enrichment	P2RY11	1.22
548	Basal ganglia calcification, idiopathic, 1	Enrichment	PDGFRB	1.22
549	Dilated cardiomyopathy	Enrichment	BRAF, RAF1	1.22
550	Anterior segment dysgenesis	Enrichment	ITPR1	1.21
551	Rare genetic intellectual disability	Enrichment	GNAO1	1.21
552	Lynch syndrome	Enrichment	KRAS	1.19
553	Gliosarcoma	Enrichment	EGFR	1.18
554	Nephrotic syndrome, type 1	Enrichment	PLCE1	1.17
555	Adult hepatocellular carcinoma	Enrichment	PIK3CA	1.17
556	Acute promyelocytic leukemia	Enrichment	PRKAR1A	1.16
557	Stereotypic movement disorder	Enrichment	SYNGAP1	1.16
558	Cleft palate, isolated	Enrichment	GNB1	1.15
559	Sudden infant death syndrome	Enrichment	CALM2	1.15
560	Giant cell glioblastoma	Enrichment	EGFR	1.15
561	Wilms tumor 1	Enrichment	BRAF	1.14
562	Early infantile developmental and epileptic encephalopathy	Enrichment	GNAO1	1.13
563	Neural tube defects	Enrichment	ITGB1	1.13
564	Arteriovenous malformations of the brain	Enrichment	EGFR	1.11
565	Diffuse large b-cell lymphoma	Enrichment	BTK	1.09
566	Alzheimer disease, familial, 1	Enrichment	NOS3	1.09
567	Melanoma, cutaneous malignant 1	Enrichment	BRAF	1.09
568	Dandy-walker syndrome	Enrichment	BRAF	1.09
569	Combined immunodeficiency	Enrichment	ZAP70	1.08
570	Combined t cell and b cell immunodeficiency	Enrichment	ZAP70	1.08
571	Combined t and b cell immunodeficiency	Enrichment	ZAP70	1.08
572	Myopia	Enrichment	COL2A1	1.07
573	Attention deficit-hyperactivity disorder	Enrichment	GNB5	1.05
574	Congenital stationary night blindness	Enrichment	GNB3	1.03
575	Nk-cell enteropathy	Enrichment	PIK3CB	1.01
576	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	1.01
577	Developmental and epileptic encephalopathy 1	Enrichment	GNAO1	0.99
578	Human immunodeficiency virus type 1	Enrichment	CXCL12	0.99
579	Cleft lip/palate	Enrichment	PDGFRA	0.98
580	Hereditary chronic pancreatitis	Enrichment	TRB	0.98
581	Complex neurodevelopmental disorder	Enrichment	GNB2, PAK3	0.98
582	Myocardial infarction	Enrichment	GUCY1A1	0.98
583	Pancreatic cancer	Enrichment	KRAS	0.98
584	Hydrops fetalis, nonimmune	Enrichment	HRAS	0.98
585	Cardiomyopathy, dilated, 1a	Enrichment	RAPGEF5	0.96
586	Strabismus	Enrichment	GNB1	0.96
587	Renal cell carcinoma, nonpapillary	Enrichment	MET	0.95
588	Hydrocephalus	Enrichment	PDGFRB	0.95
589	Lissencephaly	Enrichment	ACTG1	0.93
590	Pancreatitis, hereditary	Enrichment	TRB	0.90
591	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.88
592	Scoliosis	Enrichment	COL2A1	0.87
593	Left ventricular noncompaction	Enrichment	RAF1	0.86
594	Developmental and epileptic encephalopathy	Enrichment	GNAO1	0.84
595	Focal segmental glomerulosclerosis	Enrichment	PLCE1	0.84
596	Endometrial cancer	Enrichment	PIK3CA	0.82
597	Benign epilepsy with centrotemporal spikes	Enrichment	PLCB1	0.79
598	Stargardt disease 1	Enrichment	COL2A1	0.78
599	Non-syndromic x-linked intellectual disability	Enrichment	RPS6KA3	0.78
600	Centralopathic epilepsy	Enrichment	PLCB1	0.77
601	Gastric cancer	Enrichment	KRAS	0.76
602	Connective tissue disease	Enrichment	COL2A1	0.76
603	Cakut	Enrichment	ACTG1	0.73
604	Type 2 diabetes mellitus	Enrichment	AKT2	0.72
605	Non-syndromic genetic deafness	Enrichment	ACTG1	0.71
606	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	PRKG1	0.70
607	Spastic ataxia	Enrichment	ITPR1	0.69
608	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.69
609	Prostate cancer	Enrichment	PIK3CA	0.69
610	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	KITLG	0.69
611	Sensorineural hearing loss	Enrichment	EDN3	0.67
612	Hereditary breast ovarian cancer syndrome	Enrichment	KRAS	0.66
613	Myeloma, multiple	Enrichment	KRAS	0.66
614	Nonsyndromic hearing loss	Enrichment	ACTG1	0.65
615	Nephrotic syndrome	Enrichment	FN1	0.64
616	Hypertelorism	Enrichment	RPS6KA3	0.64
617	Primary ovarian insufficiency	Enrichment	JAK2	0.64
618	Genetic steroid-resistant nephrotic syndrome	Enrichment	PLCE1	0.63
619	Body mass index quantitative trait locus 11	Enrichment	GNAS	0.62
620	Autism	Enrichment	CAMK2G	0.58
621	Deafness, autosomal recessive	Enrichment	EDNRB	0.57
622	Autosomal recessive nonsyndromic deafness	Enrichment	EDNRB	0.56
623	Inherited cancer-predisposing syndrome	Enrichment	MET, PDGFRA	0.56
624	Rare genetic deafness	Enrichment	EDNRB	0.48
625	Primary ciliary dyskinesia	Enrichment	PRKAR1B	0.47
626	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	EDNRB	0.44
627	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	MEF2C	0.44
628	Hereditary retinal dystrophy	Enrichment	COL2A1	0.08
629	Fundus dystrophy	Enrichment	COL2A1	0.08

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 Angiotensin activation of ERK

Pathway Network for Development Angiotensin activation of ERK

Pathway network for the Development Angiotensin activation of ERK SuperPath

Member Pathways for Development Angiotensin activation of ERK

Pathways in the Development Angiotensin activation of ERK SuperPath

Gene overlap in member pathways for Development Angiotensin activation of ERK SuperPath

Associated Genes for Development Angiotensin activation of ERK

Associated Disorders for Development Angiotensin activation of ERK

Disorders associated with Development Angiotensin activation of ERK SuperPath

STRING Interaction Network for Development Angiotensin activation of ERK

Sources for Development Angiotensin activation of ERK