Myometrial relaxation and contraction pathways

No Pathway Network information available for Myometrial relaxation and contraction pathways

Pathways in the Myometrial relaxation and contraction pathways SuperPath

#	Name	Source	Genes
1	Myometrial relaxation and contraction pathways	WikiPathways	ACKR3 ACKR5 ACTA1 ACTA2 ACTB ACTC1 ACTG1 ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 ADM ARRB1 ARRB2 ATF1 ATF2 ATF3 ATF4 ATF5 ATF6B ATP2A2 ATP2A3 CACNB3 CALCA CALD1 CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CNN1 CNN2 CORIN CRCP CREB1 CREB3 CRH CRHR1 DGKZ ETS2 FOS GABPA GABPB1 GJA1 GNAQ GNAS GNB1 GNB2 GNB3 GNB4 GNB5 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GRK4 GRK5 GRK6 GSTO1 GUCA2A GUCA2B GUCY1A1 IGFBP1 IGFBP2 IGFBP3 IGFBP4 IGFBP5 IGFBP6 IL1B IL6 ITPR1 ITPR2 ITPR3 JUN LPAR1 MAFF MYL2 MYL4 MYLK2 NFKB1 NOS1 NOS3 OXT OXTR PDE4B PDE4D PKIA PKIB PKIG PLCB3 PLCD1 PLCG1 PLCG2 PRKACA PRKACB PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCQ PRKCZ PRKD1 RAMP1 RAMP2 RAMP3 RGS1 RGS10 RGS11 RGS14 RGS16 RGS17 RGS18 RGS19 RGS2 RGS20 RGS3 RGS4 RGS5 RGS6 RGS7 RGS9 RLN1 RXFP1 RXFP2 RYR1 RYR2 RYR3 SFN SLC8A1 SP1 YWHAB YWHAE YWHAG YWHAH YWHAQ YWHAZ (see all 155) (see less)
2	Calcium regulation in cardiac cells	WikiPathways	ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 ADRA1A ADRA1B ADRA1D ADRB1 ADRB2 ADRB3 ANXA6 ARRB1 ARRB2 ATP1A4 ATP1B1 ATP1B2 ATP1B3 ATP2A2 ATP2A3 ATP2B1 ATP2B2 ATP2B3 CACNA1A CACNA1B CACNA1C CACNA1D CACNA1E CACNA1S CACNB1 CACNB3 CALM1 CALM2 CALM3 CALR CAMK1 CAMK2A CAMK2B CAMK2D CAMK2G CAMK4 CASQ1 CASQ2 CHRM1 CHRM2 CHRM3 CHRM4 CHRM5 FKBP1A FXYD2 GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJC1 GJC2 GJD2 GNA11 GNAI1 GNAI2 GNAI3 GNAO1 GNAQ GNAS GNAZ GNB1 GNB2 GNB3 GNB4 GNB5 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GRK4 GRK5 GRK6 ITPR1 ITPR2 ITPR3 KCNB1 KCNJ3 KCNJ5 PKIA PKIB PKIG PLCB3 PLN PRKACA PRKACB PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCA PRKCB PRKCD PRKCE PRKCG PRKCH PRKCQ PRKCZ PRKD1 RGS1 RGS10 RGS11 RGS14 RGS16 RGS17 RGS18 RGS19 RGS2 RGS20 RGS3 RGS4 RGS5 RGS6 RGS7 RGS9 RYR1 RYR2 RYR3 SFN SLC8A1 SLC8A3 STIM2 YWHAB YWHAE YWHAG YWHAH YWHAQ YWHAZ (see all 150) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	PLCB3	Phospholipase C Beta 3	Protein Coding	2
2	GNG8	G Protein Subunit Gamma 8	Protein Coding	2
3	RGS9	Regulator Of G Protein Signaling 9	Protein Coding	2
4	RGS5	Regulator Of G Protein Signaling 5	Protein Coding	2
5	CAMK2D	Calcium/Calmodulin Dependent Protein Kinase II Delta	Protein Coding	2
6	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	2
7	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	2
8	CALM2	Calmodulin 2	Protein Coding	2
9	CALM1	Calmodulin 1	Protein Coding	2
10	CACNB3	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 3	Protein Coding	2
11	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	2
12	YWHAH	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta	Protein Coding	2
13	YWHAG	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma	Protein Coding	2
14	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	2
15	SLC8A1	Solute Carrier Family 8 Member A1	Protein Coding	2
16	RYR2	Ryanodine Receptor 2	Protein Coding	2
17	RYR1	Ryanodine Receptor 1	Protein Coding	2
18	RGS10	Regulator Of G Protein Signaling 10	Protein Coding	2
19	RGS7	Regulator Of G Protein Signaling 7	Protein Coding	2
20	RGS4	Regulator Of G Protein Signaling 4	Protein Coding	2
21	RGS3	Regulator Of G Protein Signaling 3	Protein Coding	2
22	RGS2	Regulator Of G Protein Signaling 2	Protein Coding	2
23	RGS1	Regulator Of G Protein Signaling 1	Protein Coding	2
24	GNB4	G Protein Subunit Beta 4	Protein Coding	2
25	PRKCZ	Protein Kinase C Zeta	Protein Coding	2
26	PRKCQ	Protein Kinase C Theta	Protein Coding	2
27	PRKD1	Protein Kinase D1	Protein Coding	2
28	PRKCH	Protein Kinase C Eta	Protein Coding	2
29	PRKCG	Protein Kinase C Gamma	Protein Coding	2
30	PRKCE	Protein Kinase C Epsilon	Protein Coding	2
31	PRKCD	Protein Kinase C Delta	Protein Coding	2
32	PRKCB	Protein Kinase C Beta	Protein Coding	2
33	PRKCA	Protein Kinase C Alpha	Protein Coding	2
34	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	2
35	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	2
36	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	2
37	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	2
38	ATP2A3	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 3	Protein Coding	2
39	ATP2A2	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2	Protein Coding	2
40	ARRB2	Arrestin Beta 2	Protein Coding	2
41	ARRB1	Arrestin Beta 1	Protein Coding	2
42	ITPR3	Inositol 1,4,5-Trisphosphate Receptor Type 3	Protein Coding	2
43	ITPR2	Inositol 1,4,5-Trisphosphate Receptor Type 2	Protein Coding	2
44	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	2
45	GRK6	G Protein-Coupled Receptor Kinase 6	Protein Coding	2
46	GRK5	G Protein-Coupled Receptor Kinase 5	Protein Coding	2
47	GRK4	G Protein-Coupled Receptor Kinase 4	Protein Coding	2
48	SFN	Stratifin	Protein Coding	2
49	GNGT1	G Protein Subunit Gamma Transducin 1	Protein Coding	2
50	GNG11	G Protein Subunit Gamma 11	Protein Coding	2
51	GNG7	G Protein Subunit Gamma 7	Protein Coding	2
52	GNG5	G Protein Subunit Gamma 5	Protein Coding	2
53	GNB3	G Protein Subunit Beta 3	Protein Coding	2
54	GNB1	G Protein Subunit Beta 1	Protein Coding	2
55	GNAS	GNAS Complex Locus	Protein Coding	2
56	GNAQ	G Protein Subunit Alpha Q	Protein Coding	2
57	GJA1	Gap Junction Protein Alpha 1	Protein Coding	2
58	RGS17	Regulator Of G Protein Signaling 17	Protein Coding	2
59	ADCY8	Adenylate Cyclase 8	Protein Coding	2
60	ADCY7	Adenylate Cyclase 7	Protein Coding	2
61	ADCY6	Adenylate Cyclase 6	Protein Coding	2
62	ADCY5	Adenylate Cyclase 5	Protein Coding	2
63	YWHAQ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Theta	Protein Coding	2
64	ADCY3	Adenylate Cyclase 3	Protein Coding	2
65	ADCY2	Adenylate Cyclase 2	Protein Coding	2
66	ADCY1	Adenylate Cyclase 1	Protein Coding	2
67	GNB5	G Protein Subunit Beta 5	Protein Coding	2
68	ADCY4	Adenylate Cyclase 4	Protein Coding	2
69	RGS6	Regulator Of G Protein Signaling 6	Protein Coding	2
70	RGS11	Regulator Of G Protein Signaling 11	Protein Coding	2
71	RGS20	Regulator Of G Protein Signaling 20	Protein Coding	2
72	ADCY9	Adenylate Cyclase 9	Protein Coding	2
73	PKIG	CAMP-Dependent Protein Kinase Inhibitor Gamma	Protein Coding	2
74	RGS14	Regulator Of G Protein Signaling 14	Protein Coding	2
75	RGS19	Regulator Of G Protein Signaling 19	Protein Coding	2
76	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	2
77	CALM3	Calmodulin 3	Protein Coding	2
78	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	2
79	RGS18	Regulator Of G Protein Signaling 18	Protein Coding	2
80	RYR3	Ryanodine Receptor 3	Protein Coding	2
81	RGS16	Regulator Of G Protein Signaling 16	Protein Coding	2
82	GNG12	G Protein Subunit Gamma 12	Protein Coding	2
83	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	2
84	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	2
85	PKIB	CAMP-Dependent Protein Kinase Inhibitor Beta	Protein Coding	2
86	PKIA	CAMP-Dependent Protein Kinase Inhibitor Alpha	Protein Coding	2
87	GNG2	G Protein Subunit Gamma 2	Protein Coding	2
88	GNG13	G Protein Subunit Gamma 13	Protein Coding	2
89	GNG4	G Protein Subunit Gamma 4	Protein Coding	2
90	GNG3	G Protein Subunit Gamma 3	Protein Coding	2
91	GNB2	G Protein Subunit Beta 2	Protein Coding	2
92	GSTO1	Glutathione S-Transferase Omega 1	Protein Coding	1
93	MYLK2	Myosin Light Chain Kinase 2	Protein Coding	1
94	DGKZ	Diacylglycerol Kinase Zeta	Protein Coding	1
95	CALD1	Caldesmon 1	Protein Coding	1
96	CALCA	Calcitonin Related Polypeptide Alpha	Protein Coding	1
97	ACTG1	Actin Gamma 1	Protein Coding	1
98	ACTC1	Actin Alpha Cardiac Muscle 1	Protein Coding	1
99	SP1	Sp1 Transcription Factor	Protein Coding	1
100	RLN1	Relaxin 1	Protein Coding	1
101	ACTB	Actin Beta	Protein Coding	1
102	RXFP1	Relaxin Family Peptide Receptor 1	Protein Coding	1
103	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	1
104	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	1
105	ACKR3	Atypical Chemokine Receptor 3	Protein Coding	1
106	PLCG2	Phospholipase C Gamma 2	Protein Coding	1
107	PLCG1	Phospholipase C Gamma 1	Protein Coding	1
108	PLCD1	Phospholipase C Delta 1	Protein Coding	1
109	PDE4D	Phosphodiesterase 4D	Protein Coding	1
110	PDE4B	Phosphodiesterase 4B	Protein Coding	1
111	OXTR	Oxytocin Receptor	Protein Coding	1
112	OXT	Oxytocin/Neurophysin I Prepropeptide	Protein Coding	1
113	NOS3	Nitric Oxide Synthase 3	Protein Coding	1
114	NOS1	Nitric Oxide Synthase 1	Protein Coding	1
115	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
116	ATF4	Activating Transcription Factor 4	Protein Coding	1
117	ATF3	Activating Transcription Factor 3	Protein Coding	1
118	ATF1	Activating Transcription Factor 1	Protein Coding	1
119	MYL4	Myosin Light Chain 4	Protein Coding	1
120	MYL2	Myosin Light Chain 2	Protein Coding	1
121	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
122	IL6	Interleukin 6	Protein Coding	1
123	IL1B	Interleukin 1 Beta	Protein Coding	1
124	IGFBP6	Insulin Like Growth Factor Binding Protein 6	Protein Coding	1
125	IGFBP5	Insulin Like Growth Factor Binding Protein 5	Protein Coding	1
126	IGFBP3	Insulin Like Growth Factor Binding Protein 3	Protein Coding	1
127	IGFBP2	Insulin Like Growth Factor Binding Protein 2	Protein Coding	1
128	IGFBP1	Insulin Like Growth Factor Binding Protein 1	Protein Coding	1
129	GUCY1A1	Guanylate Cyclase 1 Soluble Subunit Alpha 1	Protein Coding	1
130	GUCA2B	Guanylate Cyclase Activator 2B	Protein Coding	1
131	MAFF	MAF BZIP Transcription Factor F	Protein Coding	1
132	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
133	ATF5	Activating Transcription Factor 5	Protein Coding	1
134	ETS2	ETS Proto-Oncogene 2, Transcription Factor	Protein Coding	1
135	LPAR1	Lysophosphatidic Acid Receptor 1	Protein Coding	1
136	CRHR1	Corticotropin Releasing Hormone Receptor 1	Protein Coding	1
137	CRH	Corticotropin Releasing Hormone	Protein Coding	1
138	ATF2	Activating Transcription Factor 2	Protein Coding	1
139	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
140	ADM	Adrenomedullin	Protein Coding	1
141	CNN2	Calponin 2	Protein Coding	1
142	ACKR5	Atypical Chemokine Receptor 5	Protein Coding	1
143	CORIN	Corin, Serine Peptidase	Protein Coding	1
144	RAMP1	Receptor Activity Modifying Protein 1	Protein Coding	1
145	RAMP2	Receptor Activity Modifying Protein 2	Protein Coding	1
146	ATF6B	Activating Transcription Factor 6 Beta	Protein Coding	1
147	CNN1	Calponin 1	Protein Coding	1
148	RXFP2	Relaxin Family Peptide Receptor 2	Protein Coding	1
149	CREB3	CAMP Responsive Element Binding Protein 3	Protein Coding	1
150	RAMP3	Receptor Activity Modifying Protein 3	Protein Coding	1
151	IGFBP4	Insulin Like Growth Factor Binding Protein 4	Protein Coding	1
152	GUCA2A	Guanylate Cyclase Activator 2A	Protein Coding	1
153	CRCP	CGRP Receptor Component	Protein Coding	1
154	GABPB1	GA Binding Protein Transcription Factor Subunit Beta 1	Protein Coding	1
155	GABPA	GA Binding Protein Transcription Factor Subunit Alpha	Protein Coding	1
156	CASQ2	Calsequestrin 2	Protein Coding	1
157	CASQ1	Calsequestrin 1	Protein Coding	1
158	CAMK4	Calcium/Calmodulin Dependent Protein Kinase IV	Protein Coding	1
159	CALR	Calreticulin	Protein Coding	1
160	CACNA1S	Calcium Voltage-Gated Channel Subunit Alpha1 S	Protein Coding	1
161	CACNA1D	Calcium Voltage-Gated Channel Subunit Alpha1 D	Protein Coding	1
162	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	1
163	CACNA1B	Calcium Voltage-Gated Channel Subunit Alpha1 B	Protein Coding	1
164	CACNA1A	Calcium Voltage-Gated Channel Subunit Alpha1 A	Protein Coding	1
165	SLC8A3	Solute Carrier Family 8 Member A3	Protein Coding	1
166	STIM2	Stromal Interaction Molecule 2	Protein Coding	1
167	GJD2	Gap Junction Protein Delta 2	Protein Coding	1
168	GJC2	Gap Junction Protein Gamma 2	Protein Coding	1
169	PLN	Phospholamban	Protein Coding	1
170	ATP2B3	ATPase Plasma Membrane Ca2+ Transporting 3	Protein Coding	1
171	ATP2B1	ATPase Plasma Membrane Ca2+ Transporting 1	Protein Coding	1
172	FXYD2	FXYD Domain Containing Ion Transport Regulator 2	Protein Coding	1
173	ATP1B2	ATPase Na+/K+ Transporting Subunit Beta 2	Protein Coding	1
174	ATP1B1	ATPase Na+/K+ Transporting Subunit Beta 1	Protein Coding	1
175	ATP1A4	ATPase Na+/K+ Transporting Subunit Alpha 4	Protein Coding	1
176	KCNJ5	Potassium Inwardly Rectifying Channel Subfamily J Member 5	Protein Coding	1
177	KCNB1	Potassium Voltage-Gated Channel Subfamily B Member 1	Protein Coding	1
178	ANXA6	Annexin A6	Protein Coding	1
179	GNAZ	G Protein Subunit Alpha Z	Protein Coding	1
180	GNAO1	G Protein Subunit Alpha O1	Protein Coding	1
181	GNAI3	G Protein Subunit Alpha I3	Protein Coding	1
182	GNAI2	G Protein Subunit Alpha I2	Protein Coding	1
183	GNAI1	G Protein Subunit Alpha I1	Protein Coding	1
184	GNA11	G Protein Subunit Alpha 11	Protein Coding	1
185	GJB5	Gap Junction Protein Beta 5	Protein Coding	1
186	GJB3	Gap Junction Protein Beta 3	Protein Coding	1
187	GJB2	Gap Junction Protein Beta 2	Protein Coding	1
188	GJB1	Gap Junction Protein Beta 1	Protein Coding	1
189	GJA8	Gap Junction Protein Alpha 8	Protein Coding	1
190	GJA5	Gap Junction Protein Alpha 5	Protein Coding	1
191	GJA4	Gap Junction Protein Alpha 4	Protein Coding	1
192	GJA3	Gap Junction Protein Alpha 3	Protein Coding	1
193	FKBP1A	FKBP Prolyl Isomerase 1A	Protein Coding	1
194	ADRB3	Adrenoceptor Beta 3	Protein Coding	1
195	ADRB2	Adrenoceptor Beta 2	Protein Coding	1
196	ADRB1	Adrenoceptor Beta 1	Protein Coding	1
197	ADRA1A	Adrenoceptor Alpha 1A	Protein Coding	1
198	ADRA1B	Adrenoceptor Alpha 1B	Protein Coding	1
199	ADRA1D	Adrenoceptor Alpha 1D	Protein Coding	1
200	GJB4	Gap Junction Protein Beta 4	Protein Coding	1
201	CHRM5	Cholinergic Receptor Muscarinic 5	Protein Coding	1
202	CHRM4	Cholinergic Receptor Muscarinic 4	Protein Coding	1
203	CHRM3	Cholinergic Receptor Muscarinic 3	Protein Coding	1
204	CHRM2	Cholinergic Receptor Muscarinic 2	Protein Coding	1
205	CHRM1	Cholinergic Receptor Muscarinic 1	Protein Coding	1
206	GJB6	Gap Junction Protein Beta 6	Protein Coding	1
207	GJC1	Gap Junction Protein Gamma 1	Protein Coding	1
208	CAMK1	Calcium/Calmodulin Dependent Protein Kinase I	Protein Coding	1
209	GJA9	Gap Junction Protein Alpha 9	Protein Coding	1
210	CACNB1	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1	Protein Coding	1
211	CACNA1E	Calcium Voltage-Gated Channel Subunit Alpha1 E	Protein Coding	1
212	ATP2B2	ATPase Plasma Membrane Ca2+ Transporting 2	Protein Coding	1
213	ATP1B3	ATPase Na+/K+ Transporting Subunit Beta 3	Protein Coding	1
214	KCNJ3	Potassium Inwardly Rectifying Channel Subfamily J Member 3	Protein Coding	1

Disorders associated with Myometrial relaxation and contraction pathways SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3, CASQ2, RYR2	8.07
2	Long qt syndrome	Enrichment	CACNA1C, CACNA1S, CALM1, CALM2, CASQ2, KCNJ5, RYR2	7.43
3	Long qt syndrome 1	Enrichment	CACNA1C, CALM1, CALM2, CALM3, ITPR3, KCNJ5	6.10
4	Deafness, autosomal recessive 1a	Enrichment	GJB2, GJB3, GJB6	5.28
5	Gjb2-related autosomal recessive nonsyndromic hearing loss	Enrichment	GJB2, GJB3, GJB6	5.28
6	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1, CASQ2, RYR2	4.59
7	Erythrokeratodermia variabilis et progressiva 1	Enrichment	GJA1, GJB3, GJB4	4.15
8	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1, CASQ2, RYR2	4.15
9	Spinocerebellar ataxia, x-linked 1	Enrichment	ATP2B3, GJB1	3.92
10	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS, PRKAR1A	3.92
11	Ventricular tachycardia, catecholaminergic polymorphic, 2	Enrichment	CASQ2, RYR2	3.92
12	Deafness, autosomal recessive 1b	Enrichment	GJB2, GJB6	3.92
13	Keratitis ichthyosis and deafness syndrome	Enrichment	GJB2, GJB6	3.92
14	Phakomatosis cesioflammea	Enrichment	GNA11, GNAQ	3.92
15	Acrodysostosis	Enrichment	PDE4D, PRKAR1A	3.89
16	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB, ACTG1	3.89
17	Cardiac conduction defect	Enrichment	CACNA1C, PLN, RYR2	3.57
18	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	Enrichment	CACNA1A, CACNA1C	3.44
19	Deafness, x-linked 2	Enrichment	GJB2, GJB6	3.44
20	X-linked mixed hearing loss with perilymphatic gusher	Enrichment	GJB2, GJB6	3.44
21	Anastomosing haemangioma	Enrichment	GNA11, GNAQ	3.44
22	Melanoma of soft tissue	Enrichment	ATF1, CREB1	3.41
23	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADCY1, ATP2B2, GJA1, GJB2, GJB3, GJB6	3.34
24	Congenital myopathy 4a, autosomal dominant	Enrichment	ACTA1, MYL2, RYR1	3.22
25	Ventricular fibrillation, paroxysmal familial, 1	Enrichment	CACNA1C, RYR2	3.14
26	Malignant hyperthermia	Enrichment	CACNA1S, RYR1	3.14
27	Hypertension, essential	Enrichment	ATP1B1, GNB3, RGS5	3.09
28	Capillary malformations, congenital	Enrichment	GNA11, GNAQ	2.93
29	Heart conduction disease	Enrichment	CACNA1C, RYR2	2.93
30	Pre-eclampsia	Enrichment	CORIN, NOS3	2.90
31	Melanoma, uveal	Enrichment	GNA11, GNAQ	2.75
32	Deafness, autosomal recessive 12	Enrichment	ATP2B2, GJB2	2.75
33	Moyamoya disease 1	Enrichment	ACTA2, GUCY1A1	2.72
34	Autosomal dominant non-syndromic intellectual disability	Enrichment	CAMK2A, CAMK2B, GNB1, YWHAZ	2.65
35	Familial atrial fibrillation	Enrichment	GJA5, KCNJ3, KCNJ5	2.65
36	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ATP2B2, GJB2, GJB3, GJB6	2.59
37	Undetermined early-onset epileptic encephalopathy	Enrichment	CACNA1A, CACNA1B, KCNB1, YWHAG	2.47
38	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	2.38
39	Hydrops fetalis	Enrichment	RYR1, RYR3	2.38
40	Inflammatory bowel disease 1	Enrichment	IL6, PRKCQ	2.35
41	Cataract 30, multiple types	Enrichment	GJA3, GJA8	2.29
42	Stroke, ischemic	Enrichment	NOS3, PRKCH	2.26
43	Familial hypertrophic cardiomyopathy	Enrichment	ACTC1, MYL2, OXTR	2.21
44	Congenital nervous system abnormality	Enrichment	CACNA1A, CAMK2B, GJC2, GNAO1, GNB5	2.19
45	Nervous system disease	Enrichment	CACNA1A, CAMK2B, GJC2, GNAO1, GNB5	2.19
46	Dystonia	Enrichment	CAMK2B, GJC2, GNB1	2.17
47	Developmental and epileptic encephalopathy	Enrichment	CACNA1E, GNAO1, KCNB1	2.14
48	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	ATP2B1, RYR1	2.06
49	Clubfoot	Enrichment	ATP2B1, RYR1	2.06
50	Cerebral palsy	Enrichment	CACNA1A, CACNA1C, GNB1	2.04
51	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	PLN, RYR2	1.99
52	Palmoplantar keratoderma and congenital alopecia 1	Enrichment	GJA1	1.96
53	Anhidrosis, isolated, with normal sweat glands	Enrichment	ITPR2	1.96
54	Bart-pumphrey syndrome	Enrichment	GJB2	1.96
55	Clouston syndrome	Enrichment	GJB6	1.96
56	Hypocalciuric hypercalcemia, familial, type ii	Enrichment	GNA11	1.96
57	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	1.96
58	Vohwinkel syndrome	Enrichment	GJB2	1.96
59	Thyrotoxic periodic paralysis 1	Enrichment	CACNA1S	1.96
60	Hypoplastic left heart syndrome 1	Enrichment	GJA1	1.96
61	Cataract 14, multiple types	Enrichment	GJA3	1.96
62	Deafness, autosomal dominant 3a	Enrichment	GJB2	1.96
63	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	1.96
64	Lymphatic malformation 3	Enrichment	GJC2	1.96
65	Long qt syndrome 13	Enrichment	KCNJ5	1.96
66	Carney complex, type 1	Enrichment	PRKAR1A	1.96
67	Resting heart rate, variation in	Enrichment	ADRB1	1.96
68	Keratitis-ichthyosis-deafness syndrome, autosomal dominant	Enrichment	GJB2	1.96
69	Oculodentodigital dysplasia	Enrichment	GJA1	1.96
70	Osseous heteroplasia, progressive	Enrichment	GNAS	1.96
71	Deafness, autosomal dominant 3b	Enrichment	GJB6	1.96
72	Cataract 1, multiple types	Enrichment	GJA8	1.96
73	Dyskinesia with orofacial involvement, autosomal dominant	Enrichment	ADCY5	1.96
74	Neurodevelopmental disorder with involuntary movements	Enrichment	GNAO1	1.96
75	Deafness, autosomal recessive 44	Enrichment	ADCY1	1.96
76	Deafness, autosomal dominant 2b	Enrichment	GJB3	1.96
77	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	1.96
78	Sturge-weber syndrome	Enrichment	GNAQ	1.96
79	Ventricular tachycardia, familial	Enrichment	GNAI2	1.96
80	Craniometaphyseal dysplasia, autosomal recessive	Enrichment	GJA1	1.96
81	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	1.96
82	Neurodevelopmental disorder with hypotonia and dysmorphic facies	Enrichment	GNB2	1.96
83	Spondylometaphyseal dysplasia with corneal dystrophy	Enrichment	PLCB3	1.96
84	Intellectual developmental disorder, autosomal dominant 66	Enrichment	ATP2B1	1.96
85	Congenital myopathy 20	Enrichment	RYR3	1.96
86	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Enrichment	ADCY5	1.96
87	Pituitary adenoma 3, multiple types	Enrichment	GNAS	1.96
88	Deafness, autosomal dominant 82	Enrichment	ATP2B2	1.96
89	Charcot-marie-tooth disease, demyelinating, type 1j	Enrichment	ITPR3	1.96
90	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	1.96
91	Congenital myopathy 18	Enrichment	CACNA1S	1.96
92	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	1.96
93	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	1.96
94	Developmental and epileptic encephalopathy 26	Enrichment	KCNB1	1.96
95	Ichthyosis, hystrix-like, with deafness	Enrichment	GJB2	1.96
96	Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities	Enrichment	GNAI1	1.96
97	Hyperaldosteronism, familial, type iii	Enrichment	KCNJ5	1.96
98	Myxoma, intracardiac	Enrichment	PRKAR1A	1.96
99	Oculodentodigital dysplasia, autosomal recessive	Enrichment	GJA1	1.96
100	Prolonged electroretinal response suppression 1	Enrichment	RGS9	1.96
101	Developmental and epileptic encephalopathy 17	Enrichment	GNAO1	1.96
102	Primary aldosteronism, seizures, and neurologic abnormalities	Enrichment	CACNA1D	1.96
103	Dyskinesia with orofacial involvement, autosomal recessive	Enrichment	ADCY5	1.96
104	Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia	Enrichment	GNB5	1.96
105	Brugada syndrome 3	Enrichment	CACNA1C	1.96
106	Malignant hyperthermia 5	Enrichment	CACNA1S	1.96
107	Spinocerebellar ataxia 14	Enrichment	PRKCG	1.96
108	Spastic paraplegia 44, autosomal recessive	Enrichment	GJC2	1.96
109	Sinoatrial node dysfunction and deafness	Enrichment	CACNA1D	1.96
110	Myopathy, vacuolar, with casq1 aggregates	Enrichment	CASQ1	1.96
111	Long qt syndrome 16	Enrichment	CALM3	1.96
112	Hypocalcemia, autosomal dominant 2	Enrichment	GNA11	1.96
113	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.96
114	Charcot-marie-tooth disease, dominant intermediate f	Enrichment	GNB4	1.96
115	Disorders of gnas inactivation	Enrichment	GNAS	1.96
116	Congenital heart defects and ectodermal dysplasia	Enrichment	PRKD1	1.96
117	Developmental and epileptic encephalopathy 56	Enrichment	YWHAG	1.96
118	Hemangioma of liver	Enrichment	GJA4	1.96
119	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.96
120	Developmental and epileptic encephalopathy 69	Enrichment	CACNA1E	1.96
121	Erythrokeratodermia variabilis et progressiva 2	Enrichment	GJB4	1.96
122	Erythrokeratodermia variabilis et progressiva 3	Enrichment	GJA1	1.96
123	Intellectual developmental disorder, autosomal dominant 42	Enrichment	GNB1	1.96
124	Sick sinus syndrome 4	Enrichment	GNB2	1.96
125	Gjc2-related late-onset primary lymphedema	Enrichment	GJC2	1.96
126	Short sleep, familial natural, 2	Enrichment	ADRB1	1.96
127	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	1.96
128	Neuropathy with hearing impairment	Enrichment	GJB3	1.96
129	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	1.96
130	Congenital myopathy with myasthenic-like onset	Enrichment	RYR1	1.96
131	Long qt syndrome 15	Enrichment	CALM2	1.96
132	Myopathy due to calsequestrin and serca1 protein overload	Enrichment	CASQ1	1.96
133	Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Enrichment	ITPR3	1.96
134	Rhabdomyolysis 2	Enrichment	ATP2A2	1.96
135	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	1.96
136	Porokeratotic eccrine ostial and dermal duct nevus	Enrichment	GJB2	1.96
137	Autosomal dominant nonsyndromic hearing loss 3a	Enrichment	GJB2	1.96
138	Skin hemangioma	Enrichment	GJA4	1.96
139	Sporadic hemiplegic migraine	Enrichment	CACNA1A	1.96
140	Atypical timothy syndrome	Enrichment	CACNA1C	1.96
141	Aldosterone-producing adenoma with seizures and neurological abnormalities	Enrichment	CACNA1D	1.96
142	Monostotic fibrous dysplasia	Enrichment	GNAS	1.96
143	Timothy syndrome type 2	Enrichment	CACNA1C	1.96
144	Gnao1-related disorder	Enrichment	GNAO1	1.96
145	Periodic paralysis with transient compartment-like syndrome	Enrichment	CACNA1S	1.96
146	Phakomatosis cesiomarmorata	Enrichment	GNA11	1.96
147	Malignant epithelial tumor of salivary glands	Enrichment	PRKD1	1.96
148	Mazabraud syndrome	Enrichment	GNAS	1.96
149	Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy	Enrichment	RYR1	1.96
150	Timothy syndrome type 1	Enrichment	CACNA1C	1.96
151	Distal 17p13.3 microdeletion syndrome	Enrichment	YWHAE	1.96
152	Cacna1c-related disorders	Enrichment	CACNA1C	1.96
153	Benign paroxysmal torticollis of infancy	Enrichment	CACNA1A	1.96
154	Benign samaritan congenital myopathy	Enrichment	RYR1	1.96
155	Nonsyndromic hearing loss	Enrichment	GJB2, GJB3, GJB6	1.95
156	Pyloric stenosis, infantile hypertrophic, 1	Enrichment	NOS1	1.94
157	Baraitser-winter syndrome 1	Enrichment	ACTB	1.94
158	Congenital myopathy 2a, typical, autosomal dominant	Enrichment	ACTA1	1.94
159	Nail disorder, nonsyndromic congenital, 3	Enrichment	PLCD1	1.94
160	Myopathy, scapulohumeroperoneal	Enrichment	ACTA1	1.94
161	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	1.94
162	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	1.94
163	Atrial fibrillation, familial, 18	Enrichment	MYL4	1.94
164	Becker nevus syndrome	Enrichment	ACTB	1.94
165	Dystonia-deafness syndrome 1	Enrichment	ACTB	1.94
166	Congenital myopathy 2b, severe infantile, autosomal recessive	Enrichment	ACTA1	1.94
167	Moyamoya disease 6 with or without achalasia	Enrichment	GUCY1A1	1.94
168	Preeclampsia/eclampsia 5	Enrichment	CORIN	1.94
169	Autoinflammation, antibody deficiency, and immune dysregulation	Enrichment	PLCG2	1.94
170	Acrodysostosis 2 with or without hormone resistance	Enrichment	PDE4D	1.94
171	Oculomotor-abducens synkinesis	Enrichment	ACKR3	1.94
172	Familial cold autoinflammatory syndrome 3	Enrichment	PLCG2	1.94
173	Congenital myopathy 2c, severe infantile, autosomal dominant	Enrichment	ACTA1	1.94
174	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	1.94
175	Moyamoya disease with early-onset achalasia	Enrichment	GUCY1A1	1.94
176	Cardiomyopathy, familial hypertrophic, 30, atrial	Enrichment	CORIN	1.94
177	Baraitser-winter syndrome	Enrichment	ACTB	1.94
178	Zebra body myopathy	Enrichment	ACTA1	1.94
179	Congenital smooth muscle hamartoma	Enrichment	ACTB	1.94
180	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	1.94
181	Actin-accumulation myopathy	Enrichment	ACTA1	1.94
182	Anterior segment dysgenesis	Enrichment	GJA8, ITPR1	1.94
183	Microcephaly	Enrichment	ATP2B3, CAMK2B, GNAO1, GNB1, YWHAG	1.93
184	Distal arthrogryposis	Enrichment	ACTA1, ACTC1, RYR1	1.92
185	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	RYR1, RYR2	1.88
186	Sudden infant death syndrome	Enrichment	CALM2, PLN	1.83
187	Early-onset nuclear cataract	Enrichment	GJA3, GJA8	1.78
188	Neuromuscular disease	Enrichment	ACTA1, RYR1	1.75
189	Body mass index quantitative trait locus 11	Enrichment	ADCY3, ADRB3, GNAS	1.75
190	Congenital myopathy	Enrichment	CACNA1S, RYR1	1.74
191	Spastic ataxia	Enrichment	ATP2B3, GJC2, ITPR1	1.68
192	Spinocerebellar ataxia 29	Enrichment	ITPR1	1.66
193	Hypomagnesemia 2, renal	Enrichment	FXYD2	1.66
194	Malignant hyperthermia 1	Enrichment	RYR1	1.66
195	Atrial standstill 1	Enrichment	GJA5	1.66
196	Acrokeratosis verruciformis	Enrichment	ATP2A2	1.66
197	Andersen cardiodysrhythmic periodic paralysis	Enrichment	KCNJ5	1.66
198	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	1.66
199	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Enrichment	RYR2	1.66
200	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	1.66
201	Pituitary adenoma 4, acth-secreting	Enrichment	GNAI2	1.66
202	Cutis marmorata telangiectatica congenita	Enrichment	GNA11	1.66
203	Timothy syndrome	Enrichment	CACNA1C	1.66
204	Spinocerebellar ataxia, x-linked 5	Enrichment	ATP2B3	1.66
205	Alternating hemiplegia of childhood 1	Enrichment	CACNA1A	1.66
206	Pseudopseudohypoparathyroidism	Enrichment	GNAS	1.66
207	Congenital cataracts, facial dysmorphism, and neuropathy	Enrichment	GJA3	1.66
208	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	1.66
209	Cardiomyopathy, dilated, 1p	Enrichment	PLN	1.66
210	Lethal congenital contracture syndrome 8	Enrichment	ADCY6	1.66
211	Hallermann-streiff syndrome	Enrichment	GJA1	1.66
212	Night blindness, congenital stationary, type 1h	Enrichment	GNB3	1.66
213	Atrial fibrillation, familial, 11	Enrichment	GJA5	1.66
214	Syndactyly, type iii	Enrichment	GJA1	1.66
215	Syndactyly, type v	Enrichment	GJA1	1.66
216	Cardiomyopathy, familial hypertrophic, 18	Enrichment	PLN	1.66
217	Long qt syndrome 14	Enrichment	CALM1	1.66
218	Deafness, autosomal recessive 104	Enrichment	GJB2	1.66
219	Long qt syndrome 8	Enrichment	CACNA1C	1.66
220	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	1.66
221	Usher syndrome, type iv	Enrichment	PRKAR1A	1.66
222	Craniometaphyseal dysplasia	Enrichment	GJA1	1.66
223	Autosomal dominant hypocalcemia	Enrichment	GNA11	1.66
224	King-denborough syndrome	Enrichment	RYR1	1.66
225	Pseudohypoparathyroidism	Enrichment	GNAS	1.66
226	Body mass index quantitative trait locus 19	Enrichment	ADCY3	1.66
227	Fibrolamellar carcinoma	Enrichment	PRKACA	1.66
228	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	1.66
229	Hypopituitarism	Enrichment	GNAI2	1.66
230	Congenital disorder of glycosylation, type iw, autosomal dominant	Enrichment	CACNA1D	1.66
231	Bradyopsia	Enrichment	RGS9	1.66
232	Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	Enrichment	GNB5	1.66
233	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	Enrichment	CACNA1B	1.66
234	Exercise-induced malignant hyperthermia	Enrichment	RYR1	1.66
235	Dental caries	Enrichment	ATP2B3	1.66
236	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	1.66
237	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	1.66
238	Hereditary palmoplantar keratoderma	Enrichment	GJB2	1.66
239	Progressive bulbar palsy	Enrichment	CACNA1A	1.66
240	Cerebral visual impairment	Enrichment	GNB1	1.66
241	Centronuclear myopathy	Enrichment	CACNA1S, RYR1	1.65
242	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.64
243	Aortic aneurysm, familial thoracic 2	Enrichment	ACTA2	1.64
244	Cardiomyopathy, dilated, 1r	Enrichment	ACTC1	1.64
245	Deafness, autosomal dominant 20	Enrichment	ACTG1	1.64
246	Cardiomyopathy, familial hypertrophic, 11	Enrichment	ACTC1	1.64
247	Smooth muscle dysfunction syndrome	Enrichment	ACTA2	1.64
248	Aortic aneurysm, familial thoracic 6	Enrichment	ACTA2	1.64
249	Baraitser-winter syndrome 2	Enrichment	ACTG1	1.64
250	Chromosome 5q12 deletion syndrome	Enrichment	PDE4D	1.64
251	Moyamoya disease 5	Enrichment	ACTA2	1.64
252	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	1.64
253	Atrial septal defect 5	Enrichment	ACTC1	1.64
254	Cardiomyopathy, familial hypertrophic, 10	Enrichment	MYL2	1.64
255	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	Enrichment	MYL2	1.64
256	Qualitative or quantitative defects of caveolin-3	Enrichment	OXTR	1.64
257	Common variable immunodeficiency 12	Enrichment	NFKB1	1.64
258	Cardiomyopathy, familial hypertrophic, 1	Enrichment	MYLK2, OXTR	1.52
259	Darier-white disease	Enrichment	ATP2A2	1.48
260	Prune belly syndrome	Enrichment	CHRM3	1.48
261	Mccune-albright syndrome	Enrichment	GNAS	1.48
262	Van der woude syndrome 1	Enrichment	CACNA1E	1.48
263	Keratoderma, palmoplantar, with deafness	Enrichment	GJB2	1.48
264	Thrombocythemia 1	Enrichment	CALR	1.48
265	Gillespie syndrome	Enrichment	ITPR1	1.48
266	Pelizaeus-merzbacher disease	Enrichment	GJC2	1.48
267	Ifap syndrome 1, with or without bresheck syndrome	Enrichment	GJB2	1.48
268	Charcot-marie-tooth disease, x-linked dominant, 1	Enrichment	GJB1	1.48
269	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	GNA11	1.48
270	Leukodystrophy, hypomyelinating, 2	Enrichment	GJC2	1.48
271	Miller-dieker lissencephaly syndrome	Enrichment	YWHAE	1.48
272	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	YWHAE	1.48
273	Lynch syndrome 5	Enrichment	RYR1	1.48
274	Bronchopulmonary dysplasia	Enrichment	RYR1	1.48
275	Intrinsic cardiomyopathy	Enrichment	PLN	1.48
276	Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities	Enrichment	ATP2B1	1.48
277	Muscular atrophy	Enrichment	ATP2B3	1.48
278	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	1.48
279	Sclerocornea	Enrichment	GJA8	1.48
280	Pelizeaus-merzbacher spectrum disorder	Enrichment	GJC2	1.48
281	Thyrotoxic periodic paralysis	Enrichment	CACNA1S	1.48
282	Hypomyelination neuropathy-arthrogryposis syndrome	Enrichment	ADCY6	1.48
283	Hereditary episodic ataxia	Enrichment	CACNA1A	1.48
284	Rippling muscle disease 2	Enrichment	OXTR	1.47
285	Long qt syndrome 9	Enrichment	OXTR	1.47
286	Myopathy, distal, tateyama type	Enrichment	OXTR	1.47
287	Strabismus	Enrichment	CACNA1A, GNB1	1.45
288	Migraine, familial hemiplegic, 1	Enrichment	CACNA1A	1.36
289	Chorea, benign hereditary	Enrichment	ADCY5	1.36
290	Congenital myopathy 1a, autosomal dominant, with malignant hyperthermia	Enrichment	RYR1	1.36
291	Spinocerebellar ataxia 6	Enrichment	CACNA1A	1.36
292	Spastic paraplegia 17, autosomal dominant	Enrichment	GNG3	1.36
293	Myopathy, centronuclear, 2	Enrichment	RYR1	1.36
294	Sacral defect with anterior meningocele	Enrichment	RYR1	1.36
295	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	1.36
296	Amyotrophy, monomelic	Enrichment	RYR3	1.36
297	Budd-chiari syndrome	Enrichment	CALR	1.36
298	Developmental and epileptic encephalopathy 2	Enrichment	CACNA1A	1.36
299	Auriculocondylar syndrome 1	Enrichment	GNAI3	1.36
300	Lipodystrophy, congenital generalized, type 2	Enrichment	GNG3	1.36
301	Carney complex variant	Enrichment	PRKAR1A	1.36
302	Spinocerebellar ataxia 15	Enrichment	ITPR1	1.36
303	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	1.36
304	Developmental and epileptic encephalopathy 42	Enrichment	CACNA1A	1.36
305	Achromatopsia 4	Enrichment	GNAI3	1.36
306	Intellectual developmental disorder, autosomal dominant 26	Enrichment	RYR1	1.36
307	Developmental and epileptic encephalopathy 52	Enrichment	CACNA1A	1.36
308	Hereditary ataxia	Enrichment	PRKCG	1.36
309	Congenital myopathy 1a	Enrichment	RYR1	1.36
310	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	YWHAZ	1.36
311	Episodic ataxia	Enrichment	CACNA1A	1.36
312	Adenosine deaminase deficiency	Enrichment	PKIG	1.36
313	Familial or sporadic hemiplegic migraine	Enrichment	CACNA1A	1.36
314	Paroxysmal familial ventricular fibrillation	Enrichment	RYR2	1.36
315	Familial sick sinus syndrome	Enrichment	GNB2	1.36
316	Kaposi sarcoma	Enrichment	IL6	1.35
317	Nemaline myopathy 2	Enrichment	ACTA1	1.35
318	Autoimmune lymphoproliferative syndrome	Enrichment	ACTA2	1.35
319	Aminoacylase 1 deficiency	Enrichment	ACTB	1.35
320	Congenital generalized lipodystrophy	Enrichment	FOS	1.35
321	Atrial fibrillation	Enrichment	CORIN	1.35
322	Idiopathic achalasia	Enrichment	NOS1	1.35
323	Intermediate nemaline myopathy	Enrichment	ACTA1	1.35
324	Systemic-onset juvenile idiopathic arthritis	Enrichment	IL6	1.35
325	Pseudomyogenic hemangioendothelioma	Enrichment	ACTB	1.35
326	Hypertrophic neuropathy of dejerine-sottas	Enrichment	GJB1	1.27
327	Episodic ataxia, type 2	Enrichment	CACNA1A	1.27
328	Congenital myopathy 1b, autosomal recessive	Enrichment	RYR1	1.27
329	Cardiac arrest	Enrichment	PLN	1.27
330	Cleft upper lip	Enrichment	GJA1	1.27
331	Endometrial stromal sarcoma	Enrichment	YWHAE	1.27
332	Sensory peripheral neuropathy	Enrichment	GJB1	1.27
333	Alzheimer disease 2	Enrichment	NOS3	1.25
334	Congenital myopathy 3 with rigid spine	Enrichment	ACTA1	1.25
335	Rheumatoid arthritis, systemic juvenile	Enrichment	IL6	1.25
336	Histiocytoid hemangioma	Enrichment	FOS	1.25
337	Coloboma of choroid and retina	Enrichment	ACTG1	1.25
338	Severe congenital nemaline myopathy	Enrichment	ACTA1	1.25
339	Left ventricular noncompaction	Enrichment	ACTC1, RYR2	1.22
340	Fetal akinesia deformation sequence 1	Enrichment	ATP2B3, RYR1	1.20
341	Dilated cardiomyopathy	Enrichment	ACTA1, ACTC1, MYL2	1.20
342	Klippel-trenaunay-weber syndrome	Enrichment	GNAQ	1.19
343	Hypokalemic periodic paralysis, type 1	Enrichment	CACNA1S	1.19
344	Myopathy, centronuclear, 1	Enrichment	RYR1	1.19
345	Pierre robin syndrome	Enrichment	ATP2B1	1.19
346	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	1.19
347	Pain disorder	Enrichment	GJB1	1.19
348	Adrenocortical carcinoma	Enrichment	PRKAR1A	1.19
349	Kidney clear cell sarcoma	Enrichment	YWHAE	1.19
350	Early-onset sutural cataract	Enrichment	GJA8	1.19
351	Type 1 diabetes mellitus	Enrichment	IL6	1.18
352	Typical nemaline myopathy	Enrichment	ACTA1	1.18
353	Myelofibrosis	Enrichment	CALR	1.13
354	Brachydactyly	Enrichment	GNAS	1.13
355	Essential thrombocythemia	Enrichment	CALR	1.13
356	Megacolon	Enrichment	SLC8A1	1.13
357	Myopathy	Enrichment	ACTA1, RYR1	1.12
358	Common variable immunodeficiency	Enrichment	NFKB1	1.11
359	Autosomal dominant sleep-related hypermotor epilepsy	Enrichment	CRH	1.11
360	Childhood-onset nemaline myopathy	Enrichment	ACTA1	1.11
361	Familial isolated restrictive cardiomyopathy	Enrichment	MYL2	1.11
362	Myopathy, tubular aggregate, 1	Enrichment	CASQ1	1.07
363	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS	1.07
364	Multiple pterygium syndrome, lethal type	Enrichment	RYR1	1.07
365	Lennox-gastaut syndrome	Enrichment	CACNA1A	1.07
366	Alternating hemiplegia of childhood	Enrichment	CACNA1A	1.07
367	Congenital muscular dystrophy	Enrichment	RYR1	1.07
368	Hypothyroidism	Enrichment	GNB1	1.07
369	Choreatic disease	Enrichment	GNAO1	1.07
370	Hypoplastic left heart syndrome	Enrichment	GJA1	1.07
371	Cataract - microcornea syndrome	Enrichment	GJA8	1.07
372	Difference of sex development	Enrichment	CACNA1A	1.07
373	Early-onset posterior polar cataract	Enrichment	GJA3	1.07
374	Hypertrophic cardiomyopathy	Enrichment	ACTC1, MYL2	1.06
375	Arrhythmogenic right ventricular dysplasia, familial, 9	Enrichment	PLN	1.02
376	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	CACNA1C	1.02
377	Primary hyperaldosteronism	Enrichment	GNAS	1.02
378	Cryptorchidism, unilateral or bilateral	Enrichment	RXFP2	1.01
379	Cat eye syndrome	Enrichment	ACTG1	0.96
380	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	0.96
381	Nemaline myopathy	Enrichment	ACTA1	0.96
382	Migraine with or without aura 1	Enrichment	CACNA1A	0.94
383	Leukemia, acute lymphoblastic	Enrichment	GNB1	0.94
384	Myelodysplastic syndrome	Enrichment	GNB1	0.94
385	Movement disease	Enrichment	GNAO1	0.94
386	Specific learning disability	Enrichment	YWHAG	0.94
387	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	RYR2	0.90
388	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	RYR2	0.90
389	Congenital long qt syndrome	Enrichment	ITPR3	0.90
390	Acute promyelocytic leukemia	Enrichment	PRKAR1A	0.87
391	Chromosome 1p36 deletion syndrome	Enrichment	PRKCZ	0.87
392	Multiple sclerosis	Enrichment	ITPR1	0.84
393	Periventricular nodular heterotopia	Enrichment	ATP2B1	0.84
394	Primary ovarian insufficiency	Enrichment	NOS3, RYR3	0.84
395	Lung cancer susceptibility 3	Enrichment	ACTA2	0.83
396	Heart disease	Enrichment	MYL2	0.83
397	Rare genetic intellectual disability	Enrichment	GNAO1	0.81
398	Complex neurodevelopmental disorder	Enrichment	ATP2B1, CACNA1C, GNB2	0.80
399	Wolff-parkinson-white syndrome	Enrichment	CASQ2	0.79
400	Creatine phosphokinase, elevated serum	Enrichment	OXTR	0.77
401	Hypertension	Enrichment	CORIN	0.77
402	Isolated elevated serum creatine phosphokinase levels	Enrichment	OXTR	0.77
403	Cleft palate, isolated	Enrichment	GNB1	0.76
404	Cataract 44	Enrichment	GJA8	0.76
405	Alzheimer disease, familial, 1	Enrichment	NOS3	0.75
406	Cardiomyopathy, dilated, 1e	Enrichment	MYL2	0.75
407	Beckwith-wiedemann syndrome	Enrichment	RYR1	0.74
408	Early infantile developmental and epileptic encephalopathy	Enrichment	GNAO1	0.74
409	Patent foramen ovale	Enrichment	ACTC1	0.73
410	Autism	Enrichment	ATP2B1, CAMK2G	0.72
411	Arteriovenous malformations of the brain	Enrichment	IL6	0.71
412	Breast cancer	Enrichment	GNG3, JUN	0.67
413	Lissencephaly	Enrichment	ACTG1	0.67
414	Attention deficit-hyperactivity disorder	Enrichment	GNB5	0.66
415	Microphthalmia	Enrichment	GJA8	0.66
416	Myocardial infarction	Enrichment	GUCY1A1	0.65
417	Noonan syndrome 1	Enrichment	GJB2	0.65
418	Congenital stationary night blindness	Enrichment	GNB3	0.65
419	Ear malformation	Enrichment	GJB2	0.63
420	Scoliosis	Enrichment	RYR1	0.63
421	Developmental and epileptic encephalopathy 1	Enrichment	GNAO1	0.61
422	Tetralogy of fallot	Enrichment	GJA5	0.60
423	Brugada syndrome	Enrichment	CACNA1C	0.60
424	Auditory neuropathy	Enrichment	CACNA1A	0.60
425	Hydrops fetalis, nonimmune	Enrichment	ACTA1	0.59
426	Peripheral nervous system disease	Enrichment	GJB1	0.52
427	Neuropathy	Enrichment	GJB1	0.52
428	Non-immune hydrops fetalis	Enrichment	ACTA1	0.52
429	Severe combined immunodeficiency	Enrichment	PKIG	0.51
430	Lung cancer	Enrichment	ACTA2	0.51
431	Connective tissue disease	Enrichment	ACTA2	0.51
432	Cakut	Enrichment	ACTG1	0.49
433	Non-syndromic genetic deafness	Enrichment	GJB2	0.48
434	Autism spectrum disorder	Enrichment	GJB2, GNB1	0.47
435	Charcot-marie-tooth disease	Enrichment	GJB1	0.44
436	Type 2 diabetes mellitus	Enrichment	IL6	0.42
437	West syndrome	Enrichment	GNAO1	0.41
438	Gastric cancer	Enrichment	IL1B	0.41
439	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	ACTA2	0.40
440	Sensorineural hearing loss	Enrichment	GJB2	0.38
441	Familial isolated dilated cardiomyopathy	Enrichment	PLN	0.35
442	Deafness, autosomal recessive	Enrichment	GJB2	0.30
443	Autosomal recessive nonsyndromic deafness	Enrichment	GJB2	0.29
444	Primary ciliary dyskinesia	Enrichment	PRKAR1B	0.24
445	Rare genetic deafness	Enrichment	GJB2	0.23
446	Leber plus disease	Enrichment	RGS9	0.18
447	Inherited cancer-predisposing syndrome	Enrichment	PRKAR1A	0.11
448	Hereditary retinal dystrophy	Enrichment	RGS9	0.02
449	Fundus dystrophy	Enrichment	RGS9	0.02

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

Myometrial relaxation and contraction pathways

Pathway Network for Myometrial relaxation and contraction pathways

Member Pathways for Myometrial relaxation and contraction pathways

Pathways in the Myometrial relaxation and contraction pathways SuperPath

Associated Genes for Myometrial relaxation and contraction pathways

Associated Disorders for Myometrial relaxation and contraction pathways

Disorders associated with Myometrial relaxation and contraction pathways SuperPath

STRING Interaction Network for Myometrial relaxation and contraction pathways

Sources for Myometrial relaxation and contraction pathways