G-protein signaling G-Protein alpha-i signaling cascades

Pathway network for the G-protein signaling G-Protein alpha-i signaling cascades SuperPath

Sources:

GeneGo (Thomson Reuters)
QIAGEN

Pathways in the G-protein signaling G-Protein alpha-i signaling cascades SuperPath

#	Name	Source	Genes
1	G-protein signaling G-Protein alpha-i signaling cascades	GeneGo (Thomson Reuters)	ADCY1 BRAF CAV1 GNAI1 GNAI2 GNAI3 GNAO1 GNAZ GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GRB2 HRAS MAP2K1 MAP2K2 MAPK1 MAPK3 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B RAF1 RAP1A RAP1GAP RGS10 RGS11 RGS14 RGS18 RGS7 SHC1 SOS1 SOS2 SRC STAT3 (see all 51) (see less)
2	Signaling in Gap Junctions	QIAGEN	ACTA1 ACTA2 ACTB ACTG1 ACTG2 ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 ADRB1 AKT1 AKT2 AKT3 ARAF BRAF CAV1 CCN3 CSNK1A1 CSNK1D CSNK1E CSNK1G1 CSNK1G2 CSNK1G3 CTNNB1 DBN1 DRD1 DRD2 EGF EGFR GJA1 GJA3 GJA4 GJA5 GJA8 GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 GJC1 GJC2 GJD2 GJE1 GNAI1 GNAI2 GNAI3 GNAS GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GRB2 GRM1 GRM2 GRM3 GRM4 GRM5 GRM6 GRM7 GRM8 GUCY1A1 GUCY1A2 GUCY1B1 GUCY2C GUCY2D GUCY2EP GUCY2F HRAS HTR2A HTR2B HTR2C ITPR1 ITPR2 ITPR3 KRAS LPAR1 MAP2K1 MAP2K2 MAP2K3 MAP2K4 MAP2K5 MAP2K6 MAP3K2 MAPK1 MAPK12 MAPK3 MAPK6 MAPK7 MRAS NPR1 NPR2 NRAS PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PLCB1 PLCB2 PLCB3 PLCB4 PLCD1 PLCD3 PLCD4 PLCE1 PLCG1 PLCG2 PLCZ1 PPP3CA PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCA PRKCE PRKG1 PRKG2 RAF1 RRAS RRAS2 SOS1 SOS2 SP1 SP3 SRC TJP1 TJP2 TUBA3C TUBA4A TUBA8 TUBB1 TUBB2A TUBB2B TUBB3 TUBB6 TUBB7P (see all 159) (see less)
3	Development Beta-adrenergic receptors regulation of ERK	GeneGo (Thomson Reuters)	ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 ADRB1 ADRB2 ADRB3 BRAF CD44 GNAI1 GNAI2 GNAI3 GNAO1 GNAS GNAZ 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 MAPK1 MAPK3 PDPK1 PIK3CG PIK3R5 PLCE1 PPP2CA PPP2CB PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B RAF1 RAP1A RAP2B RAPGEF2 RAPGEF3 RASGRP1 SHC1 SOS1 SOS2 SRC (see all 70) (see less)
4	G-protein signaling G-Protein alpha-s signaling cascades	GeneGo (Thomson Reuters)	ADCY1 ADD1 AK1 AK5 ANAPC1 ANAPC10 ANAPC11 ANAPC13 ANAPC2 ANAPC4 ANAPC5 ANAPC7 BRAF CDC16 CDC23 CDC26 CDC27 CREB1 GNAS GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GSK3A GSK3B HRAS MAP2K1 MAP2K2 MAPK1 MAPK3 PDE4A PKLR PKM PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B RAF1 RAP1A RAPGEF2 RAPGEF3 RAPGEF4 RGS2 RYR1 SRC (see all 61) (see less)
5	G-protein signaling G-Protein beta/gamma signaling cascades	GeneGo (Thomson Reuters)	ADCY2 ADCY5 AKT1 AKT2 AKT3 BTK CAV1 DNM2 GNA15 GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GRB2 HRAS MAP2K1 MAP2K2 MAPK1 MAPK3 PDPK1 PIK3CG PIK3R5 PLCB2 PLCG1 PLCG2 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B RAF1 RGS3 SHC1 SOS1 SOS2 SRC (see all 51) (see less)

Gene overlap in member pathways for G-protein signaling G-Protein alpha-i signaling cascades 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	5
2	GNB2	G Protein Subunit Beta 2	Protein Coding	5
3	GNB3	G Protein Subunit Beta 3	Protein Coding	5
4	GNG3	G Protein Subunit Gamma 3	Protein Coding	5
5	GNG4	G Protein Subunit Gamma 4	Protein Coding	5
6	GNG5	G Protein Subunit Gamma 5	Protein Coding	5
7	GNG7	G Protein Subunit Gamma 7	Protein Coding	5
8	GNG10	G Protein Subunit Gamma 10	Protein Coding	5
9	GNG11	G Protein Subunit Gamma 11	Protein Coding	5
10	GNGT1	G Protein Subunit Gamma Transducin 1	Protein Coding	5
11	GNGT2	G Protein Subunit Gamma Transducin 2	Protein Coding	5
12	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	5
13	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	5
14	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	5
15	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	5
16	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	5
17	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	5
18	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	5
19	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	5
20	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	5
21	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	5
22	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	5
23	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	5
24	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	5
25	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	5
26	GNB5	G Protein Subunit Beta 5	Protein Coding	5
27	GNG13	G Protein Subunit Gamma 13	Protein Coding	5
28	GNG2	G Protein Subunit Gamma 2	Protein Coding	5
29	GNG12	G Protein Subunit Gamma 12	Protein Coding	5
30	GNB4	G Protein Subunit Beta 4	Protein Coding	5
31	GNG8	G Protein Subunit Gamma 8	Protein Coding	5
32	ADCY1	Adenylate Cyclase 1	Protein Coding	4
33	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	4
34	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	4
35	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	4
36	SOS2	SOS Ras/Rho Guanine Nucleotide Exchange Factor 2	Protein Coding	4
37	CAV1	Caveolin 1	Protein Coding	3
38	GNAI1	G Protein Subunit Alpha I1	Protein Coding	3
39	GNAI2	G Protein Subunit Alpha I2	Protein Coding	3
40	GNAI3	G Protein Subunit Alpha I3	Protein Coding	3
41	RAP1A	RAP1A, Member Of RAS Oncogene Family	Protein Coding	3
42	SHC1	SHC Adaptor Protein 1	Protein Coding	3
43	ADCY2	Adenylate Cyclase 2	Protein Coding	3
44	ADCY5	Adenylate Cyclase 5	Protein Coding	3
45	GNAS	GNAS Complex Locus	Protein Coding	3
46	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	3
47	GNAO1	G Protein Subunit Alpha O1	Protein Coding	2
48	GNAZ	G Protein Subunit Alpha Z	Protein Coding	2
49	ADCY3	Adenylate Cyclase 3	Protein Coding	2
50	ADCY4	Adenylate Cyclase 4	Protein Coding	2
51	ADCY6	Adenylate Cyclase 6	Protein Coding	2
52	ADCY7	Adenylate Cyclase 7	Protein Coding	2
53	ADCY8	Adenylate Cyclase 8	Protein Coding	2
54	ADCY9	Adenylate Cyclase 9	Protein Coding	2
55	ADRB1	Adrenoceptor Beta 1	Protein Coding	2
56	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	2
57	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	2
58	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	2
59	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	2
60	ITPR2	Inositol 1,4,5-Trisphosphate Receptor Type 2	Protein Coding	2
61	ITPR3	Inositol 1,4,5-Trisphosphate Receptor Type 3	Protein Coding	2
62	PLCB2	Phospholipase C Beta 2	Protein Coding	2
63	PLCE1	Phospholipase C Epsilon 1	Protein Coding	2
64	PLCG1	Phospholipase C Gamma 1	Protein Coding	2
65	PLCG2	Phospholipase C Gamma 2	Protein Coding	2
66	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	2
67	PIK3CG	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma	Protein Coding	2
68	RAPGEF2	Rap Guanine Nucleotide Exchange Factor 2	Protein Coding	2
69	RAPGEF3	Rap Guanine Nucleotide Exchange Factor 3	Protein Coding	2
70	RAP1GAP	RAP1 GTPase Activating Protein	Protein Coding	1
71	RGS7	Regulator Of G Protein Signaling 7	Protein Coding	1
72	RGS10	Regulator Of G Protein Signaling 10	Protein Coding	1
73	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	1
74	RGS11	Regulator Of G Protein Signaling 11	Protein Coding	1
75	RGS14	Regulator Of G Protein Signaling 14	Protein Coding	1
76	RGS18	Regulator Of G Protein Signaling 18	Protein Coding	1
77	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	1
78	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	1
79	ACTB	Actin Beta	Protein Coding	1
80	ACTG1	Actin Gamma 1	Protein Coding	1
81	ACTG2	Actin Gamma 2, Smooth Muscle	Protein Coding	1
82	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
83	CSNK1A1	Casein Kinase 1 Alpha 1	Protein Coding	1
84	CSNK1D	Casein Kinase 1 Delta	Protein Coding	1
85	CSNK1E	Casein Kinase 1 Epsilon	Protein Coding	1
86	CSNK1G1	Casein Kinase 1 Gamma 1	Protein Coding	1
87	CSNK1G2	Casein Kinase 1 Gamma 2	Protein Coding	1
88	CSNK1G3	Casein Kinase 1 Gamma 3	Protein Coding	1
89	CTNNB1	Catenin Beta 1	Protein Coding	1
90	GJD2	Gap Junction Protein Delta 2	Protein Coding	1
91	DBN1	Drebrin 1	Protein Coding	1
92	DRD1	Dopamine Receptor D1	Protein Coding	1
93	DRD2	Dopamine Receptor D2	Protein Coding	1
94	LPAR1	Lysophosphatidic Acid Receptor 1	Protein Coding	1
95	EGF	Epidermal Growth Factor	Protein Coding	1
96	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
97	GJA1	Gap Junction Protein Alpha 1	Protein Coding	1
98	GJC2	Gap Junction Protein Gamma 2	Protein Coding	1
99	GJA3	Gap Junction Protein Alpha 3	Protein Coding	1
100	GJA4	Gap Junction Protein Alpha 4	Protein Coding	1
101	GJA5	Gap Junction Protein Alpha 5	Protein Coding	1
102	GJC1	Gap Junction Protein Gamma 1	Protein Coding	1
103	GJA8	Gap Junction Protein Alpha 8	Protein Coding	1
104	GJB1	Gap Junction Protein Beta 1	Protein Coding	1
105	GJB2	Gap Junction Protein Beta 2	Protein Coding	1
106	GJB3	Gap Junction Protein Beta 3	Protein Coding	1
107	GJB4	Gap Junction Protein Beta 4	Protein Coding	1
108	GJB5	Gap Junction Protein Beta 5	Protein Coding	1
109	GJB6	Gap Junction Protein Beta 6	Protein Coding	1
110	GJB7	Gap Junction Protein Beta 7	Protein Coding	1
111	GJE1	Gap Junction Protein Epsilon 1	Protein Coding	1
112	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	1
113	GRM2	Glutamate Metabotropic Receptor 2	Protein Coding	1
114	GRM3	Glutamate Metabotropic Receptor 3	Protein Coding	1
115	GRM4	Glutamate Metabotropic Receptor 4	Protein Coding	1
116	GRM5	Glutamate Metabotropic Receptor 5	Protein Coding	1
117	GRM6	Glutamate Metabotropic Receptor 6	Protein Coding	1
118	GRM7	Glutamate Metabotropic Receptor 7	Protein Coding	1
119	GRM8	Glutamate Metabotropic Receptor 8	Protein Coding	1
120	GUCY1A2	Guanylate Cyclase 1 Soluble Subunit Alpha 2	Protein Coding	1
121	GUCY1A1	Guanylate Cyclase 1 Soluble Subunit Alpha 1	Protein Coding	1
122	GUCY1B1	Guanylate Cyclase 1 Soluble Subunit Beta 1	Protein Coding	1
123	GUCY2C	Guanylate Cyclase 2C	Protein Coding	1
124	GUCY2D	Guanylate Cyclase 2D, Retinal	Protein Coding	1
125	GUCY2EP	Guanylate Cyclase 2E, Pseudogene	Pseudogene	1
126	GUCY2F	Guanylate Cyclase 2F, Retinal	Protein Coding	1
127	HTR2A	5-Hydroxytryptamine Receptor 2A	Protein Coding	1
128	HTR2B	5-Hydroxytryptamine Receptor 2B	Protein Coding	1
129	HTR2C	5-Hydroxytryptamine Receptor 2C	Protein Coding	1
130	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1
131	MAP2K3	Mitogen-Activated Protein Kinase Kinase 3	Protein Coding	1
132	MAP2K4	Mitogen-Activated Protein Kinase Kinase 4	Protein Coding	1
133	MAP2K5	Mitogen-Activated Protein Kinase Kinase 5	Protein Coding	1
134	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	1
135	MAP3K2	Mitogen-Activated Protein Kinase Kinase Kinase 2	Protein Coding	1
136	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	1
137	MAPK6	Mitogen-Activated Protein Kinase 6	Protein Coding	1
138	MAPK7	Mitogen-Activated Protein Kinase 7	Protein Coding	1
139	TUBB6	Tubulin Beta 6 Class V	Protein Coding	1
140	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	1
141	MRAS	Muscle RAS Oncogene Homolog	Protein Coding	1
142	CCN3	Cellular Communication Network Factor 3	Protein Coding	1
143	NPR1	Natriuretic Peptide Receptor 1	Protein Coding	1
144	NPR2	Natriuretic Peptide Receptor 2	Protein Coding	1
145	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	1
146	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1
147	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	1
148	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	1
149	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	1
150	PLCB1	Phospholipase C Beta 1	Protein Coding	1
151	PLCB3	Phospholipase C Beta 3	Protein Coding	1
152	PLCB4	Phospholipase C Beta 4	Protein Coding	1
153	PLCD1	Phospholipase C Delta 1	Protein Coding	1
154	PLCD3	Phospholipase C Delta 3	Protein Coding	1
155	PLCD4	Phospholipase C Delta 4	Protein Coding	1
156	PLCZ1	Phospholipase C Zeta 1	Protein Coding	1
157	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	1
158	PRKCA	Protein Kinase C Alpha	Protein Coding	1
159	PRKCE	Protein Kinase C Epsilon	Protein Coding	1
160	PRKG1	Protein Kinase CGMP-Dependent 1	Protein Coding	1
161	PRKG2	Protein Kinase CGMP-Dependent 2	Protein Coding	1
162	RRAS	RAS Related	Protein Coding	1
163	RRAS2	RAS Related 2	Protein Coding	1
164	SP1	Sp1 Transcription Factor	Protein Coding	1
165	SP3	Sp3 Transcription Factor	Protein Coding	1
166	TJP1	Tight Junction Protein 1	Protein Coding	1
167	TJP2	Tight Junction Protein 2	Protein Coding	1
168	TUBA4A	Tubulin Alpha 4a	Protein Coding	1
169	TUBA3C	Tubulin Alpha 3c	Protein Coding	1
170	TUBA8	Tubulin Alpha 8	Protein Coding	1
171	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	1
172	TUBB2A	Tubulin Beta 2A Class IIa	Protein Coding	1
173	TUBB3	Tubulin Beta 3 Class III	Protein Coding	1
174	TUBB7P	Tubulin Beta 7 Pseudogene	Pseudogene	1
175	ADRB2	Adrenoceptor Beta 2	Protein Coding	1
176	ADRB3	Adrenoceptor Beta 3	Protein Coding	1
177	CD44	CD44 Molecule (IN Blood Group)	Protein Coding	1
178	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
179	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
180	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	1
181	RAP2B	RAP2B, Member Of RAS Oncogene Family	Protein Coding	1
182	RASGRP1	RAS Guanyl Releasing Protein 1	Protein Coding	1
183	ADD1	Adducin 1	Protein Coding	1
184	AK1	Adenylate Kinase 1	Protein Coding	1
185	CDC27	Cell Division Cycle 27	Protein Coding	1
186	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
187	GSK3A	Glycogen Synthase Kinase 3 Alpha	Protein Coding	1
188	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	1
189	PDE4A	Phosphodiesterase 4A	Protein Coding	1
190	PKLR	Pyruvate Kinase L/R	Protein Coding	1
191	PKM	Pyruvate Kinase M1/2	Protein Coding	1
192	RGS2	Regulator Of G Protein Signaling 2	Protein Coding	1
193	RYR1	Ryanodine Receptor 1	Protein Coding	1
194	CDC23	Cell Division Cycle 23	Protein Coding	1
195	CDC16	Cell Division Cycle 16	Protein Coding	1
196	ANAPC10	Anaphase Promoting Complex Subunit 10	Protein Coding	1
197	RAPGEF4	Rap Guanine Nucleotide Exchange Factor 4	Protein Coding	1
198	ANAPC13	Anaphase Promoting Complex Subunit 13	Protein Coding	1
199	AK5	Adenylate Kinase 5	Protein Coding	1
200	ANAPC2	Anaphase Promoting Complex Subunit 2	Protein Coding	1
201	ANAPC4	Anaphase Promoting Complex Subunit 4	Protein Coding	1
202	ANAPC5	Anaphase Promoting Complex Subunit 5	Protein Coding	1
203	ANAPC7	Anaphase Promoting Complex Subunit 7	Protein Coding	1
204	ANAPC11	Anaphase Promoting Complex Subunit 11	Protein Coding	1
205	ANAPC1	Anaphase Promoting Complex Subunit 1	Protein Coding	1
206	CDC26	Cell Division Cycle 26	Protein Coding	1
207	BTK	Bruton Tyrosine Kinase	Protein Coding	1
208	DNM2	Dynamin 2	Protein Coding	1
209	GNA15	G Protein Subunit Alpha 15	Protein Coding	1
210	RGS3	Regulator Of G Protein Signaling 3	Protein Coding	1

Disorders associated with G-protein signaling G-Protein alpha-i signaling cascades SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Rasopathy	Enrichment	BRAF, HRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2	16.00
2	Noonan syndrome 1	Enrichment	BRAF, HRAS, MAP2K1, MAP2K2, RAF1, SOS1, SOS2	11.51
3	Noonan syndrome and noonan-related syndrome	Enrichment	BRAF, HRAS, MAP2K1, MAP2K2, RAF1, SOS1	11.06
4	Lung non-small cell carcinoma	Enrichment	BRAF, EGFR, HRAS, KRAS, MAP2K1, NRAS	8.97
5	Cardiofaciocutaneous syndrome 1	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	7.74
6	Cardiofaciocutaneous syndrome	Enrichment	BRAF, KRAS, MAP2K1, MAP2K2	7.74
7	Noonan syndrome 3	Enrichment	HRAS, KRAS, RAF1, SOS1	6.21
8	Melanocytic nevus syndrome, congenital	Enrichment	BRAF, HRAS, NRAS, RAF1	5.91
9	Langerhans cell histiocytosis	Enrichment	BRAF, MAP2K1, NRAS	5.80
10	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	5.20
11	Deafness, autosomal recessive 1a	Enrichment	GJB2, GJB3, GJB6	5.20
12	Gjb2-related autosomal recessive nonsyndromic hearing loss	Enrichment	GJB2, GJB3, GJB6	5.20
13	Pulmonic stenosis	Enrichment	BRAF, SOS1	4.86
14	Lung cancer susceptibility 3	Enrichment	ACTA2, BRAF, EGFR, KRAS	4.78
15	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS, PRKAR1A	4.70
16	Nevus, epidermal	Enrichment	HRAS, KRAS, NRAS	4.27
17	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, HRAS, NRAS	4.27
18	Gallbladder cancer	Enrichment	BRAF, CTNNB1, KRAS	4.27
19	Pilomyxoid astrocytoma	Enrichment	BRAF, KRAS, RAF1	4.27
20	Follicular thyroid carcinoma	Enrichment	BRAF, HRAS, NRAS	4.27
21	Noonan syndrome with multiple lentigines	Enrichment	BRAF, RAF1	4.08
22	Erythrokeratodermia variabilis et progressiva 1	Enrichment	GJA1, GJB3, GJB4	4.07
23	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	3.86
24	Deafness, autosomal recessive 1b	Enrichment	GJB2, GJB6	3.86
25	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB, ACTG1	3.86
26	Keratitis ichthyosis and deafness syndrome	Enrichment	GJB2, GJB6	3.86
27	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS, RRAS	3.49
28	Lip and oral cavity carcinoma	Enrichment	BRAF, EGFR, HRAS	3.49
29	Bladder cancer	Enrichment	CTNNB1, EGFR, HRAS, KRAS	3.46
30	Differentiated thyroid carcinoma	Enrichment	BRAF, HRAS, KRAS, NRAS	3.46
31	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ACTG1, GJB2, GJB3, GJB6, TJP2	3.46
32	Deafness, x-linked 2	Enrichment	GJB2, GJB6	3.39
33	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	3.39
34	X-linked mixed hearing loss with perilymphatic gusher	Enrichment	GJB2, GJB6	3.39
35	Tubulinopathy-associated dysgyria	Enrichment	TUBB2B, TUBB3	3.39
36	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	3.31
37	Arteriovenous malformation	Enrichment	HRAS, MAP2K1	3.31
38	Lung cancer	Enrichment	ACTA2, BRAF, EGFR, KRAS	3.30
39	Colorectal cancer	Enrichment	AKT1, BRAF, CTNNB1, NRAS, PIK3R1, SRC	3.26
40	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, MAP2K1	3.21
41	Primary hyperaldosteronism	Enrichment	BRAF, GNAS	3.15
42	Auriculocondylar syndrome 1	Enrichment	GNAI3, PLCB4	3.09
43	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3R2	3.09
44	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	3.09
45	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	3.09
46	Tubulinopathy	Enrichment	TUBB2A, TUBB2B	3.09
47	Craniopharyngioma	Enrichment	BRAF, CTNNB1	3.09
48	Acute promyelocytic leukemia	Enrichment	PRKAR1A, STAT3	2.98
49	Arteriovenous malformations of the brain	Enrichment	BRAF, EGFR, KRAS	2.87
50	Nonsyndromic hearing loss	Enrichment	ACTG1, GJB2, GJB3, GJB6	2.84
51	Lissencephaly	Enrichment	ACTG1, TUBB2B, TUBB3	2.74
52	Moyamoya disease 1	Enrichment	ACTA2, GUCY1A1	2.70
53	Congenital fibrosis of the extraocular muscles	Enrichment	TUBB2B, TUBB3	2.70
54	Adrenocortical carcinoma	Enrichment	CTNNB1, PRKAR1A	2.70
55	Breast adenocarcinoma	Enrichment	AKT1, KRAS	2.70
56	Lung squamous cell carcinoma	Enrichment	EGFR, KRAS	2.70
57	Body mass index quantitative trait locus 11	Enrichment	ADCY3, ADRB3, GNAS	2.66
58	Diffuse large b-cell lymphoma	Enrichment	BRAF, STAT3	2.64
59	Hypertension, essential	Enrichment	ADD1, GNB3	2.59
60	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, MAP2K1	2.56
61	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	2.56
62	Breast cancer	Enrichment	AKT1, GNG3, SHC1	2.55
63	Microcephaly	Enrichment	ACTB, ACTG1, CTNNB1, GNB1, GRM7, MAPK1	2.49
64	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	2.42
65	Noonan syndrome 5	Enrichment	RAF1	2.42
66	Noonan syndrome 4	Enrichment	SOS1	2.42
67	Lipodystrophy, congenital generalized, type 3	Enrichment	CAV1	2.42
68	Carney complex, type 1	Enrichment	PRKAR1A	2.42
69	Melorheostosis, isolated	Enrichment	MAP2K1	2.42
70	Noonan syndrome 7	Enrichment	BRAF	2.42
71	Leopard syndrome 3	Enrichment	BRAF	2.42
72	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.42
73	Cardiofaciocutaneous syndrome 3	Enrichment	MAP2K1	2.42
74	Noonan syndrome 9	Enrichment	SOS2	2.42
75	Neurodevelopmental disorder with involuntary movements	Enrichment	GNAO1	2.42
76	Deafness, autosomal recessive 44	Enrichment	ADCY1	2.42
77	Pulmonary hypertension, primary, 3	Enrichment	CAV1	2.42
78	Ventricular tachycardia, familial	Enrichment	GNAI2	2.42
79	Neurodevelopmental disorder with hypotonia and dysmorphic facies	Enrichment	GNB2	2.42
80	Noonan syndrome 13	Enrichment	MAPK1	2.42
81	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	2.42
82	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	2.42
83	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Enrichment	GNAI1	2.42
84	Myxoma, intracardiac	Enrichment	PRKAR1A	2.42
85	Lipodystrophy, familial partial, type 7	Enrichment	CAV1	2.42
86	Developmental and epileptic encephalopathy 17	Enrichment	GNAO1	2.42
87	Lymphangioma	Enrichment	BRAF	2.42
88	Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia	Enrichment	GNB5	2.42
89	Phace association	Enrichment	BRAF	2.42
90	Melorheostosis	Enrichment	MAP2K1	2.42
91	Leopard syndrome 2	Enrichment	RAF1	2.42
92	Cardiofaciocutaneous syndrome 4	Enrichment	MAP2K2	2.42
93	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.42
94	Charcot-marie-tooth disease, dominant intermediate f	Enrichment	GNB4	2.42
95	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	2.42
96	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.42
97	Thrombocytopenia 6	Enrichment	SRC	2.42
98	Intellectual developmental disorder, autosomal dominant 42	Enrichment	GNB1	2.42
99	Sick sinus syndrome 4	Enrichment	GNB2	2.42
100	Trigonitis	Enrichment	RAF1	2.42
101	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	2.42
102	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	2.42
103	Syringocystadenoma papilliferum	Enrichment	BRAF	2.42
104	Ganglioglioma	Enrichment	BRAF	2.42
105	Nongerminomatous germ cell tumor	Enrichment	BRAF	2.42
106	Phace syndrome	Enrichment	BRAF	2.42
107	Gnao1-related disorder	Enrichment	GNAO1	2.42
108	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.42
109	Classic hairy cell leukemia	Enrichment	BRAF	2.42
110	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	2.42
111	Proteus syndrome	Enrichment	AKT1	2.42
112	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.42
113	Charcot-marie-tooth disease, dominant intermediate b	Enrichment	DNM2	2.42
114	Dyskinesia with orofacial involvement, autosomal dominant	Enrichment	ADCY5	2.42
115	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	2.42
116	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Enrichment	ADCY5	2.42
117	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	2.42
118	Isolated growth hormone deficiency type iii	Enrichment	BTK	2.42
119	Dyskinesia with orofacial involvement, autosomal recessive	Enrichment	ADCY5	2.42
120	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.42
121	Lethal congenital contracture syndrome 5	Enrichment	DNM2	2.42
122	Autoinflammation, antibody deficiency, and immune dysregulation	Enrichment	PLCG2	2.42
123	Cowden syndrome 6	Enrichment	AKT1	2.42
124	Immunodeficiency 97 with autoinflammation	Enrichment	PIK3CG	2.42
125	Familial cold autoinflammatory syndrome 3	Enrichment	PLCG2	2.42
126	Autosomal dominant charcot-marie-tooth disease type 2m	Enrichment	DNM2	2.42
127	Capillary hemangioma	Enrichment	AKT3	2.42
128	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.42
129	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADCY1, GJA1, GJB2, GJB3, GJB6	2.41
130	Adenosine triphosphate, elevated, of erythrocytes	Enrichment	PKLR	2.35
131	Anemia, congenital, nonspherocytic hemolytic, 2	Enrichment	PKLR	2.35
132	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	2.35
133	Osseous heteroplasia, progressive	Enrichment	GNAS	2.35
134	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	2.35
135	Pituitary adenoma 3, multiple types	Enrichment	GNAS	2.35
136	Ferguson-bonni neurodevelopmental syndrome	Enrichment	ANAPC7	2.35
137	Rothmund-thomson syndrome, type 1	Enrichment	ANAPC1	2.35
138	Disorders of gnas inactivation	Enrichment	GNAS	2.35
139	Epilepsy, familial adult myoclonic, 7	Enrichment	RAPGEF2	2.35
140	Congenital myopathy with myasthenic-like onset	Enrichment	RYR1	2.35
141	Monostotic fibrous dysplasia	Enrichment	GNAS	2.35
142	Mazabraud syndrome	Enrichment	GNAS	2.35
143	Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy	Enrichment	RYR1	2.35
144	Benign samaritan congenital myopathy	Enrichment	RYR1	2.35
145	Adult hepatocellular carcinoma	Enrichment	CTNNB1, EGF	2.33
146	Anhidrosis, isolated, with normal sweat glands	Enrichment	ITPR2	2.29
147	Resting heart rate, variation in	Enrichment	ADRB1	2.29
148	Immunodeficiency 64 with lymphoproliferation	Enrichment	RASGRP1	2.29
149	Charcot-marie-tooth disease, demyelinating, type 1j	Enrichment	ITPR3	2.29
150	Short sleep, familial natural, 2	Enrichment	ADRB1	2.29
151	Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Enrichment	ITPR3	2.29
152	Immunodeficiency 64	Enrichment	RASGRP1	2.29
153	Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency	Enrichment	RASGRP1	2.29
154	Non-immune hydrops fetalis	Enrichment	ACTA1, HRAS, KRAS	2.25
155	Cataract 30, multiple types	Enrichment	GJA3, GJA8	2.24
156	Autosomal dominant macrothrombocytopenia	Enrichment	TUBA8, TUBB1	2.24
157	Ovarian cancer	Enrichment	AKT1, CTNNB1, EGFR, KRAS, RRAS2	2.18
158	Fibromatosis, gingival, 1	Enrichment	SOS1	2.12
159	Costello syndrome	Enrichment	HRAS	2.12
160	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	2.12
161	Pituitary adenoma 4, acth-secreting	Enrichment	GNAI2	2.12
162	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	2.12
163	Night blindness, congenital stationary, type 1h	Enrichment	GNB3	2.12
164	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	2.12
165	Usher syndrome, type iv	Enrichment	PRKAR1A	2.12
166	Acrodysostosis	Enrichment	PRKAR1A	2.12
167	Fibrolamellar carcinoma	Enrichment	PRKACA	2.12
168	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	2.12
169	Hypopituitarism	Enrichment	GNAI2	2.12
170	Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	Enrichment	GNB5	2.12
171	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	2.12
172	Tafro syndrome	Enrichment	MAP2K2	2.12
173	Cerebral visual impairment	Enrichment	GNB1	2.12
174	Wooly hair nevus	Enrichment	HRAS	2.12
175	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	2.12
176	Isolated growth hormone deficiency, type iii, with agammaglobulinemia	Enrichment	BTK	2.12
177	Agammaglobulinemia, x-linked	Enrichment	BTK	2.12
178	Senior-loken syndrome 7	Enrichment	AKT3	2.12
179	Bardet-biedl syndrome 16	Enrichment	AKT3	2.12
180	Malignant hyperthermia 1	Enrichment	RYR1	2.05
181	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	2.05
182	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	2.05
183	Pseudopseudohypoparathyroidism	Enrichment	GNAS	2.05
184	King-denborough syndrome	Enrichment	RYR1	2.05
185	Pseudohypoparathyroidism	Enrichment	GNAS	2.05
186	Anemia, congenital, nonspherocytic hemolytic, 3	Enrichment	AK1	2.05
187	Exercise-induced malignant hyperthermia	Enrichment	RYR1	2.05
188	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	2.05
189	Spinocerebellar ataxia 29	Enrichment	ITPR1	1.99
190	Lethal congenital contracture syndrome 8	Enrichment	ADCY6	1.99
191	Body mass index quantitative trait locus 19	Enrichment	ADCY3	1.99
192	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.99
193	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	STAT3	1.95
194	Ataxia-telangiectasia	Enrichment	BRAF	1.95
195	Nuchal bleb, familial	Enrichment	SOS1	1.95
196	Tethered spinal cord syndrome	Enrichment	BRAF	1.95
197	Breast implant-associated anaplastic large cell lymphoma	Enrichment	STAT3	1.95
198	Hyper ige syndrome	Enrichment	STAT3	1.95
199	Spermatocytoma	Enrichment	HRAS	1.95
200	Agammaglobulinemia 1, autosomal recessive	Enrichment	BTK	1.95
201	Myopathy, centronuclear, x-linked	Enrichment	DNM2	1.95
202	Agammaglobulinemia 1	Enrichment	BTK	1.95
203	Palmoplantar keratoderma and congenital alopecia 1	Enrichment	GJA1	1.93
204	Bart-pumphrey syndrome	Enrichment	GJB2	1.93
205	Clouston syndrome	Enrichment	GJB6	1.93
206	Vohwinkel syndrome	Enrichment	GJB2	1.93
207	Hypoplastic left heart syndrome 1	Enrichment	GJA1	1.93
208	Baraitser-winter syndrome 1	Enrichment	ACTB	1.93
209	Oculoectodermal syndrome	Enrichment	KRAS	1.93
210	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	Enrichment	TUBB3	1.93
211	Pallister-killian syndrome	Enrichment	ARAF	1.93
212	Cataract 14, multiple types	Enrichment	GJA3	1.93
213	Hypomagnesemia 4, renal	Enrichment	EGF	1.93
214	Deafness, autosomal dominant 3a	Enrichment	GJB2	1.93
215	Lymphatic malformation 3	Enrichment	GJC2	1.93
216	Deafness, autosomal dominant 51	Enrichment	TJP2	1.93
217	Congenital myopathy 2a, typical, autosomal dominant	Enrichment	ACTA1	1.93
218	Keratitis-ichthyosis-deafness syndrome, autosomal dominant	Enrichment	GJB2	1.93
219	Oculodentodigital dysplasia	Enrichment	GJA1	1.93
220	Deafness, autosomal dominant 3b	Enrichment	GJB6	1.93
221	Cataract 1, multiple types	Enrichment	GJA8	1.93
222	Nail disorder, nonsyndromic congenital, 3	Enrichment	PLCD1	1.93
223	Melanosis, neurocutaneous	Enrichment	NRAS	1.93
224	Macrothrombocytopenia, isolated, 1, autosomal dominant	Enrichment	TUBB1	1.93
225	Myopathy, scapulohumeroperoneal	Enrichment	ACTA1	1.93
226	Noonan syndrome 6	Enrichment	NRAS	1.93
227	Advanced sleep phase syndrome, familial, 2	Enrichment	CSNK1D	1.93
228	Aortic aneurysm, familial thoracic 8	Enrichment	PRKG1	1.93
229	Deafness, autosomal dominant 2b	Enrichment	GJB3	1.93
230	Spinocerebellar ataxia, autosomal recessive 13	Enrichment	GRM1	1.93
231	Craniometaphyseal dysplasia, autosomal recessive	Enrichment	GJA1	1.93
232	Noonan syndrome 11	Enrichment	MRAS	1.93
233	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	Enrichment	ACTG2	1.93
234	Spondylometaphyseal dysplasia, pagnamenta type	Enrichment	PRKG2	1.93
235	Spondylometaphyseal dysplasia with corneal dystrophy	Enrichment	PLCB3	1.93
236	Developmental and epileptic encephalopathy 91	Enrichment	PPP3CA	1.93
237	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Enrichment	PPP3CA	1.93
238	Short syndrome	Enrichment	PIK3R1	1.93
239	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	1.93
240	Auriculocondylar syndrome 2a	Enrichment	PLCB4	1.93
241	Night blindness, congenital stationary, type1i	Enrichment	GUCY2D	1.93
242	Ichthyosis, hystrix-like, with deafness	Enrichment	GJB2	1.93
243	Oculodentodigital dysplasia, autosomal recessive	Enrichment	GJA1	1.93
244	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	1.93
245	Becker nevus syndrome	Enrichment	ACTB	1.93
246	Spastic paraplegia 44, autosomal recessive	Enrichment	GJC2	1.93
247	Dystonia-deafness syndrome 1	Enrichment	ACTB	1.93
248	Visceral neuropathy, familial, 3, autosomal dominant	Enrichment	ACTG2	1.93
249	Cortical dysplasia, complex, with other brain malformations 7	Enrichment	TUBB2B	1.93
250	Congenital myopathy 2b, severe infantile, autosomal recessive	Enrichment	ACTA1	1.93
251	Moyamoya disease 6 with or without achalasia	Enrichment	GUCY1A1	1.93
252	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	1.93
253	Oocyte/zygote/embryo maturation arrest 23	Enrichment	TUBA4A	1.93
254	Frontotemporal dementia and/or amyotrophic lateral sclerosis 9	Enrichment	TUBA4A	1.93
255	Autosomal dominant familial visceral neuropathy	Enrichment	ACTG2	1.93
256	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	1.93
257	Hemangioma of liver	Enrichment	GJA4	1.93
258	Erythrokeratodermia variabilis et progressiva 2	Enrichment	GJB4	1.93
259	Erythrokeratodermia variabilis et progressiva 3	Enrichment	GJA1	1.93
260	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	Enrichment	TUBB6	1.93
261	Spinocerebellar ataxia 44	Enrichment	GRM1	1.93
262	Congenital myopathy 2c, severe infantile, autosomal dominant	Enrichment	ACTA1	1.93
263	Gjc2-related late-onset primary lymphedema	Enrichment	GJC2	1.93
264	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	1.93
265	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	Enrichment	GRM7	1.93
266	Moyamoya disease with early-onset achalasia	Enrichment	GUCY1A1	1.93
267	Neuropathy with hearing impairment	Enrichment	GJB3	1.93
268	Auriculocondylar syndrome 2b	Enrichment	PLCB4	1.93
269	Macrothrombocytopenia, isolated, 2, autosomal dominant	Enrichment	TUBA8	1.93
270	Adenoid ameloblastoma	Enrichment	CTNNB1	1.93
271	Baraitser-winter syndrome	Enrichment	ACTB	1.93
272	Congenital myopathy 26	Enrichment	TUBA4A	1.93
273	Spastic ataxia 11, autosomal dominant	Enrichment	TUBA4A	1.93
274	Amyotrophic lateral sclerosis type 22	Enrichment	TUBA4A	1.93
275	Porokeratotic eccrine ostial and dermal duct nevus	Enrichment	GJB2	1.93
276	Autosomal dominant nonsyndromic hearing loss 3a	Enrichment	GJB2	1.93
277	Congenital pulmonary airway malformation	Enrichment	KRAS	1.93
278	Polymicrogyria with optic nerve hypoplasia	Enrichment	TUBA8	1.93
279	Skin hemangioma	Enrichment	GJA4	1.93
280	Zebra body myopathy	Enrichment	ACTA1	1.93
281	Congenital smooth muscle hamartoma	Enrichment	ACTB	1.93
282	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	1.93
283	Actin-accumulation myopathy	Enrichment	ACTA1	1.93
284	Chondromyxoid fibroma	Enrichment	GRM1	1.93
285	Myopathic intestinal pseudoobstruction	Enrichment	ACTG2	1.93
286	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	1.93
287	Neurocutaneous melanocytosis	Enrichment	NRAS	1.93
288	Microcystic stromal tumor	Enrichment	CTNNB1	1.93
289	Actg2 visceral myopathy	Enrichment	ACTG2	1.93
290	Anterior segment dysgenesis	Enrichment	GJA8, ITPR1	1.89
291	Mccune-albright syndrome	Enrichment	GNAS	1.87
292	Lynch syndrome 5	Enrichment	RYR1	1.87
293	Bronchopulmonary dysplasia	Enrichment	RYR1	1.87
294	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	1.87
295	Melanoma of soft tissue	Enrichment	CREB1	1.87
296	Spastic paraplegia 17, autosomal dominant	Enrichment	GNG3	1.83
297	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF	1.83
298	Neurofibromatosis-noonan syndrome	Enrichment	MAP2K2	1.83
299	Lipodystrophy, congenital generalized, type 2	Enrichment	GNG3	1.83
300	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.83
301	Carney complex variant	Enrichment	PRKAR1A	1.83
302	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.83
303	Achromatopsia 4	Enrichment	GNAI3	1.83
304	Newborn respiratory distress syndrome	Enrichment	BRAF	1.83
305	Epidermolytic nevus	Enrichment	HRAS	1.83
306	Gingival fibromatosis	Enrichment	SOS1	1.83
307	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	SOS2	1.83
308	Familial sick sinus syndrome	Enrichment	GNB2	1.83
309	Chorea, benign hereditary	Enrichment	ADCY5	1.83
310	Gillespie syndrome	Enrichment	ITPR1	1.81
311	Nephrotic syndrome, type 3	Enrichment	PLCE1	1.81
312	Hypomyelination neuropathy-arthrogryposis syndrome	Enrichment	ADCY6	1.81
313	Congenital myopathy 1a, autosomal dominant, with malignant hyperthermia	Enrichment	RYR1	1.75
314	Myopathy, centronuclear, 2	Enrichment	RYR1	1.75
315	Sacral defect with anterior meningocele	Enrichment	RYR1	1.75
316	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	1.75
317	Intellectual developmental disorder, autosomal dominant 26	Enrichment	RYR1	1.75
318	Congenital myopathy 1a	Enrichment	RYR1	1.75
319	Malignant hyperthermia	Enrichment	RYR1	1.75
320	Early-onset nuclear cataract	Enrichment	GJA3, GJA8	1.73
321	Diffuse cutaneous systemic sclerosis	Enrichment	CAV1	1.73
322	Hemimegalencephaly	Enrichment	AKT3	1.73
323	Spinocerebellar ataxia 15	Enrichment	ITPR1	1.69
324	Congenital myopathy 1b, autosomal recessive	Enrichment	RYR1	1.65
325	Wilms tumor 5	Enrichment	BRAF	1.65
326	Limited scleroderma	Enrichment	CAV1	1.65
327	Myopathy, centronuclear, 1	Enrichment	DNM2	1.65
328	Atrial standstill 1	Enrichment	GJA5	1.63
329	Scoliosis, isolated 1	Enrichment	MAPK7	1.63
330	Spinocerebellar ataxia, x-linked 1	Enrichment	GJB1	1.63
331	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.63
332	Aortic aneurysm, familial thoracic 2	Enrichment	ACTA2	1.63
333	Congenital cataracts, facial dysmorphism, and neuropathy	Enrichment	GJA3	1.63
334	Obsessive-compulsive disorder	Enrichment	HTR2A	1.63
335	Deafness, autosomal dominant 20	Enrichment	ACTG1	1.63
336	Smooth muscle dysfunction syndrome	Enrichment	ACTA2	1.63
337	Encephalocraniocutaneous lipomatosis	Enrichment	KRAS	1.63
338	Aortic aneurysm, familial thoracic 6	Enrichment	ACTA2	1.63
339	Baraitser-winter syndrome 2	Enrichment	ACTG1	1.63
340	Duodenal atresia	Enrichment	GUCY2C	1.63
341	Hallermann-streiff syndrome	Enrichment	GJA1	1.63
342	Cholestasis, progressive familial intrahepatic, 4	Enrichment	TJP2	1.63
343	Epiphyseal chondrodysplasia, miura type	Enrichment	NPR2	1.63
344	Moyamoya disease 5	Enrichment	ACTA2	1.63
345	Spermatogenic failure 17	Enrichment	PLCZ1	1.63
346	Atrial fibrillation, familial, 11	Enrichment	GJA5	1.63
347	Syndactyly, type iii	Enrichment	GJA1	1.63
348	Syndactyly, type v	Enrichment	GJA1	1.63
349	Deafness, autosomal recessive 104	Enrichment	GJB2	1.63
350	Noonan syndrome 12	Enrichment	RRAS2	1.63
351	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	1.63
352	Craniometaphyseal dysplasia	Enrichment	GJA1	1.63
353	Acromesomelic dysplasia 4	Enrichment	PRKG2	1.63
354	Acromesomelic dysplasia 1	Enrichment	NPR2	1.63
355	Ocular melanoma	Enrichment	PLCB4	1.63
356	Diarrhea 6	Enrichment	GUCY2C	1.63
357	Cortical dysplasia, complex, with other brain malformations 1	Enrichment	TUBB3	1.63
358	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.63
359	Congenital diarrhea 6	Enrichment	GUCY2C	1.63
360	Intestinal obstruction in the newborn due to guanylate cyclase 2c deficiency	Enrichment	GUCY2C	1.63
361	Hereditary palmoplantar keratoderma	Enrichment	GJB2	1.63
362	Teratoma	Enrichment	CTNNB1	1.63
363	Intestinal obstruction	Enrichment	ACTG2	1.63
364	Spastic ataxia	Enrichment	GJC2, ITPR1, TUBB3	1.62
365	Myelofibrosis	Enrichment	SRC	1.58
366	Megacolon	Enrichment	AKT3	1.58
367	Myeloma, multiple	Enrichment	BRAF, KRAS, PIK3R2	1.56
368	Congenital stationary night blindness	Enrichment	GNB3, GRM6	1.53
369	Lymphoma, non-hodgkin, familial	Enrichment	BRAF	1.53
370	Hypothyroidism	Enrichment	GNB1	1.53
371	Choreatic disease	Enrichment	GNAO1	1.53
372	Permanent neonatal diabetes mellitus	Enrichment	STAT3	1.53
373	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	1.51
374	Brachydactyly	Enrichment	GNAS	1.51
375	Hemolytic anemia	Enrichment	PKLR	1.51
376	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF	1.48
377	Ventricular septal defect	Enrichment	BRAF	1.48
378	Cowden syndrome	Enrichment	AKT1	1.48
379	Desmoid disease, hereditary	Enrichment	CTNNB1	1.46
380	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Enrichment	TUBB1	1.46
381	Keratoderma, palmoplantar, with deafness	Enrichment	GJB2	1.46
382	Pelizaeus-merzbacher disease	Enrichment	GJC2	1.46
383	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	Enrichment	GUCY2C	1.46
384	Night blindness, congenital stationary, type 1b	Enrichment	GRM6	1.46
385	Ifap syndrome 1, with or without bresheck syndrome	Enrichment	GJB2	1.46
386	Charcot-marie-tooth disease, x-linked dominant, 1	Enrichment	GJB1	1.46
387	Hypercholanemia, familial 1	Enrichment	TJP2	1.46
388	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3R1	1.46
389	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.46
390	Leukodystrophy, hypomyelinating, 2	Enrichment	GJC2	1.46
391	Epilepsy, familial focal, with variable foci 2	Enrichment	NPR2	1.46
392	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.46
393	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3R1	1.46
394	Anus, imperforate	Enrichment	CTNNB1	1.46
395	Cortical dysplasia, complex, with other brain malformations 5	Enrichment	TUBB2A	1.46
396	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.46
397	Desmoid tumor	Enrichment	CTNNB1	1.46
398	Immunodeficiency 14	Enrichment	PIK3R1	1.46
399	Polr3-related leukodystrophy	Enrichment	GUCY2D	1.46
400	Advanced sleep phase syndrome	Enrichment	CSNK1D	1.46
401	Sclerocornea	Enrichment	GJA8	1.46
402	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.46
403	Pelizeaus-merzbacher spectrum disorder	Enrichment	GJC2	1.46
404	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS	1.45
405	Multiple pterygium syndrome, lethal type	Enrichment	RYR1	1.45
406	Congenital muscular dystrophy	Enrichment	RYR1	1.45
407	Dilated cardiomyopathy	Enrichment	BRAF, RAF1	1.44
408	Hydrops fetalis, nonimmune	Enrichment	ACTA1, HRAS	1.43
409	Melanoma	Enrichment	BRAF	1.43
410	Polymicrogyria	Enrichment	AKT3	1.43
411	Tracheoesophageal fistula with or without esophageal atresia	Enrichment	ADD1	1.40
412	Hydrops fetalis	Enrichment	RYR1	1.40
413	Leukemia, acute lymphoblastic	Enrichment	GNB1	1.39
414	Myelodysplastic syndrome	Enrichment	GNB1	1.39
415	Movement disease	Enrichment	GNAO1	1.39
416	Heritable pulmonary arterial hypertension	Enrichment	CAV1	1.39
417	Specific learning disability	Enrichment	MAPK1	1.39
418	Isolated tracheo-esophageal fistula	Enrichment	ADD1	1.36
419	Meningioma	Enrichment	AKT1	1.35
420	Nephrotic syndrome, type 1	Enrichment	PLCE1	1.34
421	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	1.34
422	Nemaline myopathy 2	Enrichment	ACTA1	1.34
423	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Enrichment	ACTG2	1.34
424	Autoimmune lymphoproliferative syndrome	Enrichment	ACTA2	1.34
425	Pilomatrixoma	Enrichment	CTNNB1	1.34
426	Aminoacylase 1 deficiency	Enrichment	ACTB	1.34
427	Developmental and epileptic encephalopathy 12	Enrichment	PLCB1	1.34
428	Meconium ileus	Enrichment	GUCY2C	1.34
429	Short stature with nonspecific skeletal abnormalities 1	Enrichment	NPR2	1.34
430	Alazami syndrome	Enrichment	CTNNB1	1.34
431	Lung sarcomatoid carcinoma	Enrichment	KRAS	1.34
432	Pilocytic astrocytoma	Enrichment	KRAS	1.34
433	Intermediate nemaline myopathy	Enrichment	ACTA1	1.34
434	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB	1.34
435	Aortic valve disease 1	Enrichment	SOS1	1.32
436	Osteoporosis	Enrichment	SRC	1.29
437	46,xy partial gonadal dysgenesis	Enrichment	SOS1	1.29
438	Wilms tumor 1	Enrichment	BRAF	1.26
439	Rare genetic intellectual disability	Enrichment	GNAO1	1.26
440	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	RYR1	1.24
441	Clubfoot	Enrichment	RYR1	1.24
442	Hypertrophic neuropathy of dejerine-sottas	Enrichment	GJB1	1.24
443	Visceral myopathy 1	Enrichment	ACTG2	1.24
444	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.24
445	Choroidal dystrophy, central areolar, 1	Enrichment	GUCY2D	1.24
446	3-methylglutaconic aciduria, type iii	Enrichment	GUCY2D	1.24
447	Congenital myopathy 3 with rigid spine	Enrichment	ACTA1	1.24
448	Major depressive disorder	Enrichment	HTR2A	1.24
449	Night blindness, congenital stationary, type 1c	Enrichment	GRM6	1.24
450	Cleft upper lip	Enrichment	GJA1	1.24
451	Coloboma of choroid and retina	Enrichment	ACTG1	1.24
452	Sensory peripheral neuropathy	Enrichment	GJB1	1.24
453	Severe congenital nemaline myopathy	Enrichment	ACTA1	1.24
454	Rhabdomyosarcoma	Enrichment	HRAS	1.23
455	Congenital nervous system abnormality	Enrichment	GNAO1, GNB5	1.22
456	Nervous system disease	Enrichment	GNAO1, GNB5	1.22
457	Congenital long qt syndrome	Enrichment	ITPR3	1.22
458	Melanoma, cutaneous malignant 1	Enrichment	BRAF	1.21
459	Cleft palate, isolated	Enrichment	GNB1	1.21
460	Dandy-walker syndrome	Enrichment	BRAF	1.21
461	Dystonia	Enrichment	GJC2, GNB1	1.20
462	Autism spectrum disorder	Enrichment	GNB1, MAP2K1	1.20
463	Congenital myopathy 4a, autosomal dominant	Enrichment	RYR1	1.18
464	Heart, malformation of	Enrichment	MAPK1	1.18
465	Early infantile developmental and epileptic encephalopathy	Enrichment	GNAO1	1.18
466	Non-syndromic genetic deafness	Enrichment	ACTG1, GJB2	1.18
467	Melanoma, uveal	Enrichment	PLCB4	1.17
468	Dystonia 11, myoclonic	Enrichment	DRD2	1.17
469	Branchiootorenal syndrome 1	Enrichment	TJP2	1.17
470	Cowden syndrome 1	Enrichment	EGFR	1.17
471	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.17
472	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	Enrichment	TUBB2B	1.17
473	Deafness, autosomal recessive 12	Enrichment	GJB2	1.17
474	Intestinal pseudo-obstruction	Enrichment	ACTG2	1.17
475	Pain disorder	Enrichment	GJB1	1.17
476	Familial hypercholanemia	Enrichment	TJP2	1.17
477	Early-onset sutural cataract	Enrichment	GJA8	1.17
478	Typical nemaline myopathy	Enrichment	ACTA1	1.17
479	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	RYR1	1.16
480	Multiple sclerosis	Enrichment	ITPR1	1.16
481	Centronuclear myopathy	Enrichment	DNM2	1.12
482	Beckwith-wiedemann syndrome	Enrichment	RYR1	1.11
483	Neuromuscular disease	Enrichment	RYR1	1.11
484	Squamous cell carcinoma, head and neck	Enrichment	EGFR	1.10
485	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	TUBB2B	1.10
486	Branchiootorenal syndrome	Enrichment	TJP2	1.10
487	Childhood-onset nemaline myopathy	Enrichment	ACTA1	1.10
488	Overgrowth syndrome	Enrichment	PIK3R1	1.10
489	Attention deficit-hyperactivity disorder	Enrichment	GNB5	1.10
490	Leukemia, acute myeloid	Enrichment	KRAS, NRAS	1.10
491	Esophageal atresia/tracheoesophageal fistula	Enrichment	ADD1	1.09
492	Congenital myopathy	Enrichment	RYR1	1.09
493	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	1.06
494	Developmental and epileptic encephalopathy 1	Enrichment	GNAO1	1.05
495	Leber congenital amaurosis 1	Enrichment	GUCY2D	1.05
496	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.05
497	Hypoplastic left heart syndrome	Enrichment	GJA1	1.05
498	Cataract - microcornea syndrome	Enrichment	GJA8	1.05
499	Early-onset posterior polar cataract	Enrichment	GJA3	1.05
500	Optic atrophy plus syndrome	Enrichment	GUCY2D, TUBB6	1.03
501	West syndrome	Enrichment	CSNK1E, PLCB1	1.03
502	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	ACTA2, PRKG1	1.03
503	Hereditary breast carcinoma	Enrichment	AKT1, KRAS	1.03
504	Strabismus	Enrichment	GNB1	1.01
505	Focal segmental glomerulosclerosis	Enrichment	PLCE1	1.01
506	Developmental and epileptic encephalopathy 14	Enrichment	PLCB1	1.00
507	Bilateral perisylvian polymicrogyria	Enrichment	TUBB2B	1.00
508	Primary biliary cholangitis	Enrichment	TJP2	1.00
509	Scoliosis	Enrichment	RYR1	0.99
510	Thrombocytopenia	Enrichment	SRC, TUBB1	0.96
511	Cat eye syndrome	Enrichment	ACTG1	0.95
512	Nemaline myopathy	Enrichment	ACTA1	0.95
513	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3R1	0.95
514	Autosomal dominant non-syndromic intellectual disability	Enrichment	GNB1, PPP3CA	0.93
515	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.93
516	Left ventricular noncompaction	Enrichment	RAF1	0.91
517	Developmental and epileptic encephalopathy	Enrichment	GNAO1	0.90
518	Congenital hypothyroidism	Enrichment	TUBB1	0.88
519	Complex neurodevelopmental disorder	Enrichment	GNB2, PPP2CA	0.87
520	Cerebral palsy	Enrichment	GNB1	0.86
521	Myopathy	Enrichment	DNM2	0.85
522	Protein-deficiency anemia	Enrichment	NRAS	0.85
523	Charcot-marie-tooth disease	Enrichment	DNM2	0.84
524	Long qt syndrome 1	Enrichment	ITPR3	0.84
525	Type 2 diabetes mellitus	Enrichment	AKT2	0.83
526	Medulloblastoma	Enrichment	CTNNB1	0.82
527	Cone-rod dystrophy 6	Enrichment	GUCY2D	0.82
528	Fetal akinesia deformation sequence 1	Enrichment	RYR1	0.81
529	Genetic steroid-resistant nephrotic syndrome	Enrichment	PLCE1	0.79
530	Lynch syndrome	Enrichment	KRAS	0.79
531	Gliosarcoma	Enrichment	EGFR	0.76
532	Distal arthrogryposis	Enrichment	RYR1	0.76
533	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.74
534	Cataract 44	Enrichment	GJA8	0.74
535	Polycystic liver disease	Enrichment	CTNNB1	0.74
536	Giant cell glioblastoma	Enrichment	EGFR	0.74
537	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	0.74
538	Nephrotic syndrome	Enrichment	PLCE1	0.70
539	Craniosynostosis	Enrichment	NPR2	0.68
540	Hepatoblastoma	Enrichment	CTNNB1	0.66
541	Hepatocellular carcinoma	Enrichment	CTNNB1	0.64
542	Myocardial infarction	Enrichment	GUCY1A1	0.64
543	Microphthalmia	Enrichment	GJA8	0.64
544	Rare genetic deafness	Enrichment	ACTG1, GJB2	0.63
545	Ear malformation	Enrichment	GJB2	0.61
546	Familial atrial fibrillation	Enrichment	GJA5	0.61
547	Cone dystrophy	Enrichment	GUCY2D	0.61
548	Primary ciliary dyskinesia	Enrichment	PRKAR1B	0.60
549	Pancreatic cancer	Enrichment	KRAS	0.59
550	Tetralogy of fallot	Enrichment	GJA5	0.58
551	Leber plus disease	Enrichment	GRM6, GUCY2D	0.51
552	Connective tissue disease	Enrichment	ACTA2	0.50
553	Peripheral nervous system disease	Enrichment	GJB1	0.50
554	Neuropathy	Enrichment	GJB1	0.50
555	Cakut	Enrichment	ACTG1	0.48
556	Benign epilepsy with centrotemporal spikes	Enrichment	PLCB1	0.42
557	Inherited cancer-predisposing syndrome	Enrichment	PRKAR1A	0.41
558	Centralopathic epilepsy	Enrichment	PLCB1	0.40
559	Gastric cancer	Enrichment	KRAS	0.40
560	Sensorineural hearing loss	Enrichment	GJB2	0.36
561	Hereditary breast ovarian cancer syndrome	Enrichment	KRAS	0.32
562	Undetermined early-onset epileptic encephalopathy	Enrichment	PPP3CA	0.32
563	Autosomal recessive non-syndromic intellectual disability	Enrichment	GRM7	0.30
564	Schizophrenia	Enrichment	HTR2A	0.30
565	Deafness, autosomal recessive	Enrichment	GJB2	0.28
566	Autosomal recessive nonsyndromic deafness	Enrichment	GJB2	0.28
567	Cone-rod dystrophy 2	Enrichment	GUCY2D	0.26
568	Hereditary retinal dystrophy	Enrichment	GRM6, GUCY2D	0.07
569	Fundus dystrophy	Enrichment	GRM6, GUCY2D	0.07
570	Retinitis pigmentosa	Enrichment	GUCY2D	0.04

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

G-protein signaling G-Protein alpha-i signaling cascades

Pathway Network for G-protein signaling G-Protein alpha-i signaling cascades

Pathway network for the G-protein signaling G-Protein alpha-i signaling cascades SuperPath

Member Pathways for G-protein signaling G-Protein alpha-i signaling cascades

Pathways in the G-protein signaling G-Protein alpha-i signaling cascades SuperPath

Gene overlap in member pathways for G-protein signaling G-Protein alpha-i signaling cascades SuperPath

Associated Genes for G-protein signaling G-Protein alpha-i signaling cascades

Associated Disorders for G-protein signaling G-Protein alpha-i signaling cascades

Disorders associated with G-protein signaling G-Protein alpha-i signaling cascades SuperPath

STRING Interaction Network for G-protein signaling G-Protein alpha-i signaling cascades

Sources for G-protein signaling G-Protein alpha-i signaling cascades