Cardiac conduction

Pathway network for the Cardiac conduction SuperPath

Sources:

Reactome

Pathways in the Cardiac conduction SuperPath

#	Name	Source	Genes
1	Cardiac conduction	Reactome	ABCC9 AHCYL1 AKAP9 ASPH ATP1A1 ATP1A2 ATP1A3 ATP1A4 ATP1B1 ATP1B2 ATP1B3 ATP2A1 ATP2A2 ATP2A3 ATP2B1 ATP2B2 ATP2B3 ATP2B4 CACNA1C CACNA2D2 CACNB1 CACNB2 CACNG4 CACNG6 CACNG7 CACNG8 CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CASQ1 CASQ2 CES1 CLIC2 CORIN DMPK FGF11 FGF12 FGF13 FGF14 FKBP1B FXYD1 FXYD2 FXYD3 FXYD4 FXYD6 FXYD7 GATA4 HIPK1 HIPK2 ITPR1 ITPR2 ITPR3 KAT2B KCNA5 KCND1 KCND2 KCND3 KCNE1 KCNE2 KCNE3 KCNE4 KCNE5 KCNH2 KCNIP1 KCNIP2 KCNIP3 KCNIP4 KCNJ11 KCNJ12 KCNJ14 KCNJ2 KCNJ4 KCNK1 KCNK10 KCNK12 KCNK13 KCNK15 KCNK16 KCNK17 KCNK18 KCNK2 KCNK3 KCNK4 KCNK5 KCNK6 KCNK7 KCNK9 KCNQ1 MME NKX2-5 NOS1 NPPA NPPC NPR1 NPR2 ORAI1 ORAI2 PLN PRKACA RANGRF RYR1 RYR2 RYR3 SCN10A SCN11A SCN1A SCN1B SCN2A SCN2B SCN3A SCN3B SCN4A SCN4B SCN5A SCN7A SCN8A SCN9A SLC8A1 SLC8A2 SLC8A3 SLN SRI STIM1 TBX5 TNNI3 TRDN TRPC1 WWTR1 (see all 132) (see less)
2	Muscle contraction	Reactome	ABCC9 ACTA1 ACTA2 ACTC1 ACTG2 ACTN2 ACTN3 AHCYL1 AKAP9 ALDH2 ANXA1 ANXA2 ANXA6 ASPH ATP1A1 ATP1A2 ATP1A3 ATP1A4 ATP1B1 ATP1B2 ATP1B3 ATP2A1 ATP2A2 ATP2A3 ATP2B1 ATP2B2 ATP2B3 ATP2B4 CACNA1C CACNA1G CACNA1H CACNA1I CACNA2D2 CACNB1 CACNB2 CACNG4 CACNG6 CACNG7 CACNG8 CALD1 CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CASQ1 CASQ2 CAV3 CES1 CLIC2 CORIN DES DMD DMPK DYSF FGF11 FGF12 FGF13 FGF14 FKBP1B FXYD1 FXYD2 FXYD3 FXYD4 FXYD6 FXYD7 GATA4 GUCY1A1 GUCY1A2 GUCY1B1 HIPK1 HIPK2 ITGA1 ITGB5 ITPR1 ITPR2 ITPR3 KAT2B KCNA5 KCND1 KCND2 KCND3 KCNE1 KCNE2 KCNE3 KCNE4 KCNE5 KCNH2 KCNIP1 KCNIP2 KCNIP3 KCNIP4 KCNJ11 KCNJ12 KCNJ14 KCNJ2 KCNJ4 KCNK1 KCNK10 KCNK12 KCNK13 KCNK15 KCNK16 KCNK17 KCNK18 KCNK2 KCNK3 KCNK4 KCNK5 KCNK6 KCNK7 KCNK9 KCNQ1 LMOD1 MME MYBPC1 MYBPC2 MYBPC3 MYH11 MYH3 MYH6 MYH8 MYL1 MYL10 MYL11 MYL12A MYL12B MYL2 MYL3 MYL4 MYL5 MYL6 MYL6B MYL7 MYL9 MYLK NEB NKX2-5 NOS1 NPPA NPPC NPR1 NPR2 ORAI1 ORAI2 PAK1 PAK2 PDE5A PLN PRKACA PXN RANGRF RYR1 RYR2 RYR3 SCN10A SCN11A SCN1A SCN1B SCN2A SCN2B SCN3A SCN3B SCN4A SCN4B SCN5A SCN7A SCN8A SCN9A SLC8A1 SLC8A2 SLC8A3 SLN SORBS1 SORBS3 SRI STIM1 TBX5 TCAP TLN1 TMOD1 TMOD2 TMOD3 TMOD4 TNNC1 TNNC2 TNNI1 TNNI2 TNNI3 TNNT1 TNNT2 TNNT3 TPM1 TPM2 TPM3 TPM4 TRDN TRIM72 TRPC1 TTN VCL VIM WWTR1 (see all 205) (see less)
3	Ion transport by P-type ATPases	Reactome	ATP10A ATP10B ATP10D ATP11A ATP11B ATP11C ATP12A ATP13A1 ATP13A2 ATP13A4 ATP13A5 ATP1A1 ATP1A2 ATP1A3 ATP1A4 ATP1B1 ATP1B2 ATP1B3 ATP2A1 ATP2A2 ATP2A3 ATP2B1 ATP2B2 ATP2B3 ATP2B4 ATP2C1 ATP2C2 ATP4A ATP4B ATP7A ATP7B ATP8A1 ATP8A2 ATP8B1 ATP8B2 ATP8B3 ATP8B4 ATP9A ATP9B CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CUTC FXYD1 FXYD2 FXYD3 FXYD4 FXYD6 FXYD7 PDZD11 PLN SLN SRI (see all 57) (see less)
4	Ion homeostasis	Reactome	ABCC9 AHCYL1 ASPH ATP1A1 ATP1A2 ATP1A3 ATP1A4 ATP1B1 ATP1B2 ATP1B3 ATP2A1 ATP2A2 ATP2A3 ATP2B1 ATP2B2 ATP2B3 ATP2B4 CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CASQ1 CASQ2 CLIC2 DMPK FKBP1B FXYD1 FXYD2 FXYD3 FXYD4 FXYD6 FXYD7 ITPR1 ITPR2 ITPR3 KCNJ11 NOS1 ORAI1 ORAI2 PLN PRKACA RYR1 RYR2 RYR3 SLC8A1 SLC8A2 SLC8A3 SLN SRI STIM1 TNNI3 TRDN TRPC1 (see all 56) (see less)
5	Phase 4 - resting membrane potential	Reactome	KCNJ12 KCNJ14 KCNJ2 KCNJ4 KCNK1 KCNK10 KCNK12 KCNK13 KCNK15 KCNK16 KCNK17 KCNK18 KCNK2 KCNK3 KCNK4 KCNK5 KCNK6 KCNK7 KCNK9 (see all 19) (see less)
6	Phase 2 - plateau phase	Reactome	AKAP9 CACNA1C CACNA2D2 CACNB1 CACNB2 CACNG4 CACNG6 CACNG7 CACNG8 KCNE1 KCNE2 KCNE3 KCNE4 KCNE5 KCNQ1 (see all 15) (see less)
7	Physiological factors	Reactome	CES1 CORIN GATA4 HIPK1 HIPK2 KAT2B MME NKX2-5 NPPA NPPC NPR1 NPR2 TBX5 WWTR1 (see all 14) (see less)
8	Tandem pore domain potassium channels	Reactome	KCNK1 KCNK10 KCNK13 KCNK16 KCNK17 KCNK18 KCNK2 KCNK3 KCNK4 KCNK6 KCNK7 KCNK9 (see all 12) (see less)
9	Phase 3 - rapid repolarisation	Reactome	AKAP9 KCNA5 KCNE1 KCNE2 KCNE3 KCNE4 KCNE5 KCNH2 KCNQ1 (see all 9) (see less)
10	Phase 1 - inactivation of fast Na+ channels	Reactome	KCND1 KCND2 KCND3 KCNIP1 KCNIP2 KCNIP3 KCNIP4 (see all 7) (see less)
11	Classical Kir channels	Reactome	KCNJ12 KCNJ14 KCNJ2 KCNJ4
12	Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK)	Reactome	KCNK1 KCNK6 KCNK7
13	TWIK related potassium channel (TREK)	Reactome	KCNK10 KCNK2 KCNK4
14	TWIK-related alkaline pH activated K+ channel (TALK)	Reactome	KCNK16 KCNK17
15	TWIK-releated acid-sensitive K+ channel (TASK)	Reactome	KCNK3 KCNK9
16	TWIK-related spinal cord K+ channel (TRESK)	Reactome	KCNK18
17	Tandem pore domain halothane-inhibited K+ channel (THIK)	Reactome	KCNK13

Gene overlap in member pathways for Cardiac conduction SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	KCNK7	Potassium Two Pore Domain Channel Subfamily K Member 7	Protein Coding	5
2	KCNK18	Potassium Two Pore Domain Channel Subfamily K Member 18	Protein Coding	5
3	KCNK1	Potassium Two Pore Domain Channel Subfamily K Member 1	Protein Coding	5
4	KCNK2	Potassium Two Pore Domain Channel Subfamily K Member 2	Protein Coding	5
5	KCNK3	Potassium Two Pore Domain Channel Subfamily K Member 3	Protein Coding	5
6	KCNK4	Potassium Two Pore Domain Channel Subfamily K Member 4	Protein Coding	5
7	KCNK9	Potassium Two Pore Domain Channel Subfamily K Member 9	Protein Coding	5
8	KCNK10	Potassium Two Pore Domain Channel Subfamily K Member 10	Protein Coding	5
9	KCNK13	Potassium Two Pore Domain Channel Subfamily K Member 13	Protein Coding	5
10	KCNK16	Potassium Two Pore Domain Channel Subfamily K Member 16	Protein Coding	5
11	KCNK17	Potassium Two Pore Domain Channel Subfamily K Member 17	Protein Coding	5
12	KCNK6	Potassium Two Pore Domain Channel Subfamily K Member 6	Protein Coding	5
13	KCNE3	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 3	Protein Coding	4
14	AKAP9	A-Kinase Anchoring Protein 9	Protein Coding	4
15	KCNE5	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 5	Protein Coding	4
16	KCNE4	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 4	Protein Coding	4
17	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	4
18	KCNJ2	Potassium Inwardly Rectifying Channel Subfamily J Member 2	Protein Coding	4
19	KCNJ4	Potassium Inwardly Rectifying Channel Subfamily J Member 4	Protein Coding	4
20	KCNJ12	Potassium Inwardly Rectifying Channel Subfamily J Member 12	Protein Coding	4
21	KCNJ14	Potassium Inwardly Rectifying Channel Subfamily J Member 14	Protein Coding	4
22	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	4
23	ATP1A1	ATPase Na+/K+ Transporting Subunit Alpha 1	Protein Coding	4
24	ATP1A2	ATPase Na+/K+ Transporting Subunit Alpha 2	Protein Coding	4
25	ATP1A3	ATPase Na+/K+ Transporting Subunit Alpha 3	Protein Coding	4
26	ATP1A4	ATPase Na+/K+ Transporting Subunit Alpha 4	Protein Coding	4
27	ATP1B1	ATPase Na+/K+ Transporting Subunit Beta 1	Protein Coding	4
28	ATP1B2	ATPase Na+/K+ Transporting Subunit Beta 2	Protein Coding	4
29	ATP1B3	ATPase Na+/K+ Transporting Subunit Beta 3	Protein Coding	4
30	FXYD2	FXYD Domain Containing Ion Transport Regulator 2	Protein Coding	4
31	ATP2A1	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1	Protein Coding	4
32	ATP2A2	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2	Protein Coding	4
33	ATP2A3	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 3	Protein Coding	4
34	ATP2B1	ATPase Plasma Membrane Ca2+ Transporting 1	Protein Coding	4
35	ATP2B2	ATPase Plasma Membrane Ca2+ Transporting 2	Protein Coding	4
36	ATP2B3	ATPase Plasma Membrane Ca2+ Transporting 3	Protein Coding	4
37	ATP2B4	ATPase Plasma Membrane Ca2+ Transporting 4	Protein Coding	4
38	FXYD1	FXYD Domain Containing Ion Transport Regulator 1	Protein Coding	4
39	FXYD3	FXYD Domain Containing Ion Transport Regulator 3	Protein Coding	4
40	PLN	Phospholamban	Protein Coding	4
41	FXYD7	FXYD Domain Containing Ion Transport Regulator 7	Protein Coding	4
42	FXYD6	FXYD Domain Containing Ion Transport Regulator 6	Protein Coding	4
43	FXYD4	FXYD Domain Containing Ion Transport Regulator 4	Protein Coding	4
44	SLN	Sarcolipin	Protein Coding	4
45	SRI	Sorcin	Protein Coding	4
46	CALM1	Calmodulin 1	Protein Coding	4
47	CALM2	Calmodulin 2	Protein Coding	4
48	CALM3	Calmodulin 3	Protein Coding	4
49	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	4
50	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	4
51	CAMK2D	Calcium/Calmodulin Dependent Protein Kinase II Delta	Protein Coding	4
52	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	4
53	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	4
54	ABCC9	ATP Binding Cassette Subfamily C Member 9	Protein Coding	3
55	TRDN	Triadin	Protein Coding	3
56	CES1	Carboxylesterase 1	Protein Coding	3
57	CORIN	Corin, Serine Peptidase	Protein Coding	3
58	AHCYL1	Adenosylhomocysteinase Like 1	Protein Coding	3
59	CLIC2	Chloride Intracellular Channel 2	Protein Coding	3
60	NKX2-5	NK2 Homeobox 5	Protein Coding	3
61	DMPK	DM1 Protein Kinase	Protein Coding	3
62	HIPK1	Homeodomain Interacting Protein Kinase 1	Protein Coding	3
63	FKBP1B	FKBP Prolyl Isomerase 1B	Protein Coding	3
64	WWTR1	WW Domain Containing Transcription Regulator 1	Protein Coding	3
65	GATA4	GATA Binding Protein 4	Protein Coding	3
66	CACNG4	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 4	Protein Coding	3
67	HIPK2	Homeodomain Interacting Protein Kinase 2	Protein Coding	3
68	KCNIP3	Potassium Voltage-Gated Channel Interacting Protein 3	Protein Coding	3
69	KCNIP2	Potassium Voltage-Gated Channel Interacting Protein 2	Protein Coding	3
70	KCNIP1	Potassium Voltage-Gated Channel Interacting Protein 1	Protein Coding	3
71	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	3
72	ITPR2	Inositol 1,4,5-Trisphosphate Receptor Type 2	Protein Coding	3
73	ITPR3	Inositol 1,4,5-Trisphosphate Receptor Type 3	Protein Coding	3
74	KCNA5	Potassium Voltage-Gated Channel Subfamily A Member 5	Protein Coding	3
75	KCND1	Potassium Voltage-Gated Channel Subfamily D Member 1	Protein Coding	3
76	KCND2	Potassium Voltage-Gated Channel Subfamily D Member 2	Protein Coding	3
77	KCND3	Potassium Voltage-Gated Channel Subfamily D Member 3	Protein Coding	3
78	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	3
79	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	3
80	MME	Membrane Metalloendopeptidase	Protein Coding	3
81	ASPH	Aspartate Beta-Hydroxylase	Protein Coding	3
82	NOS1	Nitric Oxide Synthase 1	Protein Coding	3
83	NPPA	Natriuretic Peptide A	Protein Coding	3
84	NPPC	Natriuretic Peptide C	Protein Coding	3
85	NPR1	Natriuretic Peptide Receptor 1	Protein Coding	3
86	NPR2	Natriuretic Peptide Receptor 2	Protein Coding	3
87	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	3
88	KCNK12	Potassium Two Pore Domain Channel Subfamily K Member 12	Protein Coding	3
89	CACNG8	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 8	Protein Coding	3
90	CACNG7	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 7	Protein Coding	3
91	CACNG6	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 6	Protein Coding	3
92	KCNK15	Potassium Two Pore Domain Channel Subfamily K Member 15	Protein Coding	3
93	RYR1	Ryanodine Receptor 1	Protein Coding	3
94	RYR2	Ryanodine Receptor 2	Protein Coding	3
95	RYR3	Ryanodine Receptor 3	Protein Coding	3
96	SLC8A2	Solute Carrier Family 8 Member A2	Protein Coding	3
97	SLC8A1	Solute Carrier Family 8 Member A1	Protein Coding	3
98	SLC8A3	Solute Carrier Family 8 Member A3	Protein Coding	3
99	STIM1	Stromal Interaction Molecule 1	Protein Coding	3
100	TBX5	T-Box Transcription Factor 5	Protein Coding	3
101	TNNI3	Troponin I3, Cardiac Type	Protein Coding	3
102	TRPC1	Transient Receptor Potential Cation Channel Subfamily C Member 1	Protein Coding	3
103	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	3
104	CACNB1	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1	Protein Coding	3
105	CACNB2	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2	Protein Coding	3
106	ORAI2	ORAI Calcium Release-Activated Calcium Modulator 2	Protein Coding	3
107	KCNIP4	Potassium Voltage-Gated Channel Interacting Protein 4	Protein Coding	3
108	CASQ1	Calsequestrin 1	Protein Coding	3
109	CASQ2	Calsequestrin 2	Protein Coding	3
110	ORAI1	ORAI Calcium Release-Activated Calcium Modulator 1	Protein Coding	3
111	KCNK5	Potassium Two Pore Domain Channel Subfamily K Member 5	Protein Coding	3
112	KAT2B	Lysine Acetyltransferase 2B	Protein Coding	3
113	CACNA2D2	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 2	Protein Coding	3
114	SCN11A	Sodium Voltage-Gated Channel Alpha Subunit 11	Protein Coding	2
115	FGF11	Fibroblast Growth Factor 11	Protein Coding	2
116	FGF12	Fibroblast Growth Factor 12	Protein Coding	2
117	FGF13	Fibroblast Growth Factor 13	Protein Coding	2
118	FGF14	Fibroblast Growth Factor 14	Protein Coding	2
119	RANGRF	RAN Guanine Nucleotide Release Factor	Protein Coding	2
120	SCN3B	Sodium Voltage-Gated Channel Beta Subunit 3	Protein Coding	2
121	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	2
122	SCN1B	Sodium Voltage-Gated Channel Beta Subunit 1	Protein Coding	2
123	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	2
124	SCN2B	Sodium Voltage-Gated Channel Beta Subunit 2	Protein Coding	2
125	SCN3A	Sodium Voltage-Gated Channel Alpha Subunit 3	Protein Coding	2
126	SCN4A	Sodium Voltage-Gated Channel Alpha Subunit 4	Protein Coding	2
127	SCN4B	Sodium Voltage-Gated Channel Beta Subunit 4	Protein Coding	2
128	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	2
129	SCN7A	Sodium Voltage-Gated Channel Alpha Subunit 7	Protein Coding	2
130	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	2
131	SCN9A	Sodium Voltage-Gated Channel Alpha Subunit 9	Protein Coding	2
132	SCN10A	Sodium Voltage-Gated Channel Alpha Subunit 10	Protein Coding	2
133	SORBS3	Sorbin And SH3 Domain Containing 3	Protein Coding	1
134	MYL12B	Myosin Light Chain 12B	Protein Coding	1
135	MYL9	Myosin Light Chain 9	Protein Coding	1
136	SORBS1	Sorbin And SH3 Domain Containing 1	Protein Coding	1
137	MYL12A	Myosin Light Chain 12A	Protein Coding	1
138	MYL6B	Myosin Light Chain 6B	Protein Coding	1
139	DES	Desmin	Protein Coding	1
140	DMD	Dystrophin	Protein Coding	1
141	ALDH2	Aldehyde Dehydrogenase 2 Family Member	Protein Coding	1
142	LMOD1	Leiomodin 1	Protein Coding	1
143	TMOD4	Tropomodulin 4	Protein Coding	1
144	TMOD3	Tropomodulin 3	Protein Coding	1
145	TMOD2	Tropomodulin 2	Protein Coding	1
146	GUCY1A2	Guanylate Cyclase 1 Soluble Subunit Alpha 2	Protein Coding	1
147	GUCY1A1	Guanylate Cyclase 1 Soluble Subunit Alpha 1	Protein Coding	1
148	GUCY1B1	Guanylate Cyclase 1 Soluble Subunit Beta 1	Protein Coding	1
149	MYL11	Myosin Light Chain 11	Protein Coding	1
150	ANXA1	Annexin A1	Protein Coding	1
151	ANXA2	Annexin A2	Protein Coding	1
152	ANXA6	Annexin A6	Protein Coding	1
153	ITGA1	Integrin Subunit Alpha 1	Protein Coding	1
154	ITGB5	Integrin Subunit Beta 5	Protein Coding	1
155	MYBPC1	Myosin Binding Protein C1	Protein Coding	1
156	MYBPC2	Myosin Binding Protein C2	Protein Coding	1
157	MYBPC3	Myosin Binding Protein C3	Protein Coding	1
158	MYH3	Myosin Heavy Chain 3	Protein Coding	1
159	MYH6	Myosin Heavy Chain 6	Protein Coding	1
160	MYH8	Myosin Heavy Chain 8	Protein Coding	1
161	MYH11	Myosin Heavy Chain 11	Protein Coding	1
162	MYL1	Myosin Light Chain 1	Protein Coding	1
163	MYL2	Myosin Light Chain 2	Protein Coding	1
164	MYL3	Myosin Light Chain 3	Protein Coding	1
165	MYL4	Myosin Light Chain 4	Protein Coding	1
166	MYL5	Myosin Light Chain 5	Protein Coding	1
167	MYL6	Myosin Light Chain 6	Protein Coding	1
168	MYLK	Myosin Light Chain Kinase	Protein Coding	1
169	NEB	Nebulin	Protein Coding	1
170	TRIM72	Tripartite Motif Containing 72	Protein Coding	1
171	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	1
172	PAK2	P21 (RAC1) Activated Kinase 2	Protein Coding	1
173	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	1
174	PXN	Paxillin	Protein Coding	1
175	MYL7	Myosin Light Chain 7	Protein Coding	1
176	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	1
177	ACTC1	Actin Alpha Cardiac Muscle 1	Protein Coding	1
178	TLN1	Talin 1	Protein Coding	1
179	TMOD1	Tropomodulin 1	Protein Coding	1
180	TNNC2	Troponin C2, Fast Skeletal Type	Protein Coding	1
181	TNNC1	Troponin C1, Slow Skeletal And Cardiac Type	Protein Coding	1
182	TNNI1	Troponin I1, Slow Skeletal Type	Protein Coding	1
183	TNNI2	Troponin I2, Fast Skeletal Type	Protein Coding	1
184	TNNT1	Troponin T1, Slow Skeletal Type	Protein Coding	1
185	TNNT2	Troponin T2, Cardiac Type	Protein Coding	1
186	TNNT3	Troponin T3, Fast Skeletal Type	Protein Coding	1
187	TPM1	Tropomyosin 1	Protein Coding	1
188	TPM2	Tropomyosin 2	Protein Coding	1
189	TPM3	Tropomyosin 3	Protein Coding	1
190	TPM4	Tropomyosin 4	Protein Coding	1
191	ACTG2	Actin Gamma 2, Smooth Muscle	Protein Coding	1
192	TTN	Titin	Protein Coding	1
193	VCL	Vinculin	Protein Coding	1
194	VIM	Vimentin	Protein Coding	1
195	CALD1	Caldesmon 1	Protein Coding	1
196	DYSF	Dysferlin	Protein Coding	1
197	TCAP	Titin-Cap	Protein Coding	1
198	CAV3	Caveolin 3	Protein Coding	1
199	PDE5A	Phosphodiesterase 5A	Protein Coding	1
200	ACTN2	Actinin Alpha 2	Protein Coding	1
201	ACTN3	Actinin Alpha 3	Protein Coding	1
202	CACNA1I	Calcium Voltage-Gated Channel Subunit Alpha1 I	Protein Coding	1
203	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	1
204	CACNA1G	Calcium Voltage-Gated Channel Subunit Alpha1 G	Protein Coding	1
205	MYL10	Myosin Light Chain 10	Protein Coding	1
206	ATP9A	ATPase Phospholipid Transporting 9A	Protein Coding	1
207	ATP8A1	ATPase Phospholipid Transporting 8A1	Protein Coding	1
208	ATP8B3	ATPase Phospholipid Transporting 8B3	Protein Coding	1
209	ATP10B	ATPase Phospholipid Transporting 10B (Putative)	Protein Coding	1
210	ATP11B	ATPase Phospholipid Transporting 11B (Putative)	Protein Coding	1
211	ATP11A	ATPase Phospholipid Transporting 11A	Protein Coding	1
212	ATP13A2	ATPase Cation Transporting 13A2	Protein Coding	1
213	ATP2C1	ATPase Secretory Pathway Ca2+ Transporting 1	Protein Coding	1
214	ATP11C	ATPase Phospholipid Transporting 11C (ATP11C Blood Group)	Protein Coding	1
215	ATP13A5	ATPase 13A5	Protein Coding	1
216	ATP9B	ATPase Phospholipid Transporting 9B	Protein Coding	1
217	ATP12A	ATPase H+/K+ Transporting Non-Gastric Alpha2 Subunit	Protein Coding	1
218	ATP4A	ATPase H+/K+ Transporting Subunit Alpha	Protein Coding	1
219	ATP4B	ATPase H+/K+ Transporting Subunit Beta	Protein Coding	1
220	CUTC	CutC Copper Transporter	Protein Coding	1
221	PDZD11	PDZ Domain Containing 11	Protein Coding	1
222	ATP8A2	ATPase Phospholipid Transporting 8A2	Protein Coding	1
223	ATP8B1	ATPase Phospholipid Transporting 8B1	Protein Coding	1
224	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	1
225	ATP7B	ATPase Copper Transporting Beta	Protein Coding	1
226	ATP13A1	ATPase 13A1	Protein Coding	1
227	ATP10A	ATPase Phospholipid Transporting 10A (Putative)	Protein Coding	1
228	ATP8B2	ATPase Phospholipid Transporting 8B2	Protein Coding	1
229	ATP10D	ATPase Phospholipid Transporting 10D (Putative)	Protein Coding	1
230	ATP8B4	ATPase Phospholipid Transporting 8B4 (Putative)	Protein Coding	1
231	ATP13A4	ATPase 13A4	Protein Coding	1
232	ATP2C2	ATPase Secretory Pathway Ca2+ Transporting 2	Protein Coding	1

Disorders associated with Cardiac conduction SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Brugada syndrome	Enrichment	ABCC9, AKAP9, CACNA1C, CACNB2, KCND3, KCNE3, KCNE5, KCNH2, RANGRF, SCN10A, SCN1B, SCN2B, SCN3B, SCN5A	16.00
2	Sudden infant death syndrome	Enrichment	CALM2, CAV3, KCNQ1, MYBPC3, PLN, SCN1A, SCN5A, TNNI3, TTN	16.00
3	Familial hypertrophic cardiomyopathy	Enrichment	ACTC1, ACTN2, CAV3, DES, DMD, KCNH2, MYBPC3, MYL2, MYL3, TCAP, TNNI3, TNNT2, TPM1	16.00
4	Long qt syndrome	Enrichment	AKAP9, CACNA1C, CALM1, CALM2, CASQ2, CAV3, KCNE1, KCNH2, KCNQ1, MYBPC3, MYH6, RYR2, SCN5A	16.00
5	Distal arthrogryposis	Enrichment	ACTA1, ACTC1, ATP2B3, MYBPC1, MYH3, MYL11, RYR1, SCN4A, SCN5A, SCN8A, TNNI2, TPM2	12.17
6	Hypertrophic cardiomyopathy	Enrichment	ACTC1, ACTN2, MYBPC3, MYL2, MYL3, PLN, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN	11.84
7	Dilated cardiomyopathy	Enrichment	ACTA1, ACTC1, ACTN2, DES, DMD, KCNE1, MYBPC3, MYH6, MYL2, NKX2-5, PLN, SCN5A, TBX5, TCAP, TNNI3, TNNT2, TPM1, TTN, VCL	11.13
8	Long qt syndrome 1	Enrichment	AKAP9, CACNA1C, CALM1, CALM2, CALM3, CAV3, ITPR3, KCNE1, KCNE2, KCNH2, KCNQ1, SCN10A, SCN4B, SCN5A, TBX5, TRDN	10.88
9	Familial atrial fibrillation	Enrichment	ABCC9, GATA4, KCNA5, KCNE1, KCNE2, KCNJ2, KCNQ1, MYL4, NKX2-5, NPPA, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TTN	10.74
10	Familial isolated dilated cardiomyopathy	Enrichment	ABCC9, ACTC1, ACTN2, DES, DMD, MYBPC3, MYH6, PLN, SCN5A, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL	10.72
11	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3, CASQ2, RYR2, TRDN	10.46
12	Left ventricular noncompaction	Enrichment	ACTC1, ACTN2, MYBPC3, NKX2-5, RYR2, SCN5A, TNNI3, TNNT2, TPM1, TTN	10.20
13	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1, CASQ2, RYR2, TRDN	8.41
14	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1, CASQ2, RYR2, TRDN	7.74
15	Arthrogryposis, distal, type 1a	Enrichment	MYBPC1, MYH3, TNNI2, TNNT3, TPM2	7.39
16	Congenital long qt syndrome	Enrichment	KCNE1, KCNH2, KCNQ1	7.35
17	Cardiomyopathy, familial hypertrophic, 1	Enrichment	CACNA1C, CAV3, MYBPC3, MYH6, TNNI3, TNNT2, TPM1	7.34
18	Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	Enrichment	ACTG2, LMOD1, MYH11, MYLK	7.30
19	Cardiac conduction defect	Enrichment	CACNA1C, PLN, RYR2, SCN1B, SCN5A	7.22
20	Wolff-parkinson-white syndrome	Enrichment	ABCC9, CASQ2, KCNQ1, SCN5A, TNNT2, TTN	7.11
21	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	ACTN2, DES, MYBPC3, RYR1, RYR2, SCN5A	7.11
22	Cardiomyopathy, dilated, 1e	Enrichment	DES, MYL2, SCN5A, TNNC1, TPM1, TTN	6.92
23	Generalized epilepsy with febrile seizures plus	Enrichment	FGF13, SCN1A, SCN1B, SCN2A, SCN9A	6.82
24	Visceral myopathy 1	Enrichment	ACTG2, LMOD1, MYH11, MYLK	6.60
25	Arthrogryposis, distal, type 2b1	Enrichment	MYH3, TNNI2, TNNT3, TPM2	6.60
26	Heart disease	Enrichment	GATA4, NKX2-5, TBX5	6.50
27	Jervell-lange nielsen syndrome	Enrichment	KCNE1, KCNQ1	6.41
28	Patent foramen ovale	Enrichment	GATA4, NKX2-5, TBX5	6.15
29	Hereditary sodium channelopathy-related small fibers neuropathy	Enrichment	SCN10A, SCN11A, SCN9A	6.05
30	Undetermined early-onset epileptic encephalopathy	Enrichment	ATP1A2, ATP1A3, FGF12, SCN1A, SCN1B, SCN3A, SCN8A	5.96
31	Brugada syndrome 1	Enrichment	KCNH2, MYBPC3, SCN10A, SCN5A	5.77
32	Childhood-onset nemaline myopathy	Enrichment	ACTA1, NEB, TPM2, TPM3	5.77
33	Dravet syndrome	Enrichment	SCN1A, SCN1B, SCN2A, SCN9A	5.76
34	Congenital myopathy 4a, autosomal dominant	Enrichment	ACTA1, MYL2, RYR1, TPM2, TPM3	5.70
35	Epilepsy	Enrichment	ATP1A2, ATP1A3, SCN1A, SCN2A, SCN3A, SCN8A	5.65
36	Jervell and lange-nielsen syndrome 1	Enrichment	KCNE1, KCNQ1	5.63
37	Long qt syndrome 2	Enrichment	KCNH2, KCNQ1	5.63
38	Myopathy, tubular aggregate, 1	Enrichment	CASQ1, CAV3, ORAI1, STIM1	5.47
39	Erythermalgia, primary	Enrichment	SCN10A, SCN11A, SCN9A	5.45
40	Ventricular fibrillation, paroxysmal familial, 1	Enrichment	CACNA1C, RYR2, SCN5A	5.45
41	Atrial fibrillation	Enrichment	CORIN, KCNQ1, SCN5A	5.45
42	Hereditary progressive cardiac conduction defect	Enrichment	NKX2-5, SCN1B, SCN5A	5.45
43	Congenital short qt syndrome	Enrichment	KCNH2, KCNQ1	5.41
44	Paroxysmal extreme pain disorder	Enrichment	SCN10A, SCN11A, SCN9A	5.05
45	Heart conduction disease	Enrichment	CACNA1C, RYR2, SCN5A	5.05
46	Nemaline myopathy	Enrichment	ACTA1, NEB, TPM2, TPM3	5.00
47	Intermediate nemaline myopathy	Enrichment	ACTA1, NEB, TPM3	4.87
48	Stormorken syndrome	Enrichment	ORAI1, STIM1	4.78
49	Ventricular tachycardia, catecholaminergic polymorphic, 2	Enrichment	CASQ2, RYR2	4.78
50	Exercise-induced malignant hyperthermia	Enrichment	ASPH, RYR1	4.78
51	Fetal akinesia deformation sequence 1	Enrichment	ACTA1, ATP2B3, RYR1, SCN4A, SCN5A, SCN8A	4.76
52	Developmental and epileptic encephalopathy	Enrichment	CACNA2D2, SCN1A, SCN2A, SCN3A, SCN8A	4.62
53	Myopathy	Enrichment	ACTA1, DMD, RYR1, SCN4A, TPM3, TTN	4.56
54	Neuropathy, hereditary sensory and autonomic, type v	Enrichment	SCN10A, SCN11A, SCN9A	4.51
55	Alternating hemiplegia of childhood	Enrichment	ATP1A2, ATP1A3, SCN2A	4.31
56	Atrial heart septal defect	Enrichment	NKX2-5, TBX5	4.27
57	Interatrial communication	Enrichment	NKX2-5, TBX5	4.27
58	Typical nemaline myopathy	Enrichment	ACTA1, NEB, TPM2	4.18
59	Migraine with aura 13	Enrichment	KCNK18	4.13
60	Isolated atrial standstill	Enrichment	NPPA, SCN5A	4.03
61	Malignant hyperthermia	Enrichment	ASPH, RYR1	4.00
62	Familial isolated restrictive cardiomyopathy	Enrichment	MYL2, TNNI3, TNNT2	3.94
63	Neuromuscular disease	Enrichment	ACTA1, DES, RYR1, TTN	3.88
64	Pulmonary hypertension, primary, 4	Enrichment	KCNK3	3.83
65	Heart, malformation of	Enrichment	GATA4, TBX5	3.82
66	Congenital myopathy	Enrichment	ACTA1, RYR1, SCN4A, TTN	3.78
67	Myocarditis	Enrichment	TNNI3, TNNT2, TTN	3.74
68	Cardiomyopathy, dilated, 1i	Enrichment	DES, MYBPC3	3.64
69	Cardiomyopathy, familial hypertrophic, 25	Enrichment	TCAP, TNNI3	3.64
70	Centronuclear myopathy	Enrichment	ACTA1, RYR1, TPM3, TTN	3.61
71	Cardiomyopathy, familial hypertrophic, 4	Enrichment	MYBPC3, TNNI3, TNNT2	3.57
72	Dystonia 12	Enrichment	ATP1A3, SCN2A	3.55
73	Generalized epilepsy with febrile seizures plus, type 1	Enrichment	SCN1A, SCN1B	3.55
74	Birk-barel syndrome	Enrichment	KCNK9	3.53
75	Short qt syndrome 3	Enrichment	KCNJ2	3.53
76	Atrial fibrillation, familial, 9	Enrichment	KCNJ2	3.53
77	Tetralogy of fallot	Enrichment	GATA4, NKX2-5	3.50
78	Muscular dystrophy	Enrichment	DMD, DYSF, NEB, TTN	3.37
79	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	Enrichment	KCNK4	3.35
80	Spinocerebellar ataxia 19	Enrichment	KCND3	3.29
81	Brugada syndrome 9	Enrichment	KCND3	3.29
82	Spinocerebellar ataxia type 19/22	Enrichment	KCND3	3.29
83	Familial or sporadic hemiplegic migraine	Enrichment	ATP1A2, SCN1A	3.25
84	Paroxysmal familial ventricular fibrillation	Enrichment	RYR2, SCN5A	3.25
85	Andersen cardiodysrhythmic periodic paralysis	Enrichment	KCNJ2	3.23
86	Hydrops fetalis	Enrichment	RYR1, RYR3	3.23
87	Benign epilepsy with centrotemporal spikes	Enrichment	SCN1A, SCN1B, SCN2A, SCN9A	3.18
88	Gingival overgrowth	Enrichment	KCNK4	3.18
89	Atrial fibrillation, familial, 7	Enrichment	KCNA5	3.18
90	Jervell and lange-nielsen syndrome 2	Enrichment	KCNE1	3.18
91	Short qt syndrome 1	Enrichment	KCNH2	3.18
92	Long qt syndrome 5	Enrichment	KCNE1	3.18
93	Long qt syndrome 11	Enrichment	AKAP9	3.18
94	Brugada syndrome 6	Enrichment	KCNE3	3.18
95	Autism	Enrichment	ATP2B1, CAMK2G, SCN1A, SCN2A, SCN8A	3.17
96	Myopathy, myofibrillar, 1	Enrichment	DES, TTN	3.17
97	Intrinsic cardiomyopathy	Enrichment	ACTN2, PLN	3.17
98	Cap myopathy	Enrichment	TPM2, TPM3	3.17
99	Restrictive cardiomyopathy	Enrichment	TNNI3, TNNT2, TTN	3.17
100	Centralopathic epilepsy	Enrichment	SCN1A, SCN1B, SCN2A, SCN9A	3.10
101	Cardiac arrest	Enrichment	PLN, SCN5A	3.04
102	Self-limited infantile epilepsy	Enrichment	SCN2A, SCN8A	3.04
103	Hypertension, diastolic	Enrichment	KCNIP1	2.99
104	Atrial septal defect 7 with or without atrioventricular conduction defects	Enrichment	NKX2-5	2.99
105	Hypothyroidism, congenital, nongoitrous, 5	Enrichment	NKX2-5	2.99
106	Holt-oram syndrome	Enrichment	TBX5	2.99
107	Spinocerebellar ataxia 43	Enrichment	MME	2.99
108	Atrioventricular septal defect 4	Enrichment	GATA4	2.99
109	Drug metabolism, altered, ces1-related	Enrichment	CES1	2.99
110	Atrial septal defect 2	Enrichment	GATA4	2.99
111	Ventricular septal defect 3	Enrichment	NKX2-5	2.99
112	Preeclampsia/eclampsia 5	Enrichment	CORIN	2.99
113	Testicular anomalies with or without congenital heart disease	Enrichment	GATA4	2.99
114	Hypoplastic left heart syndrome 2	Enrichment	NKX2-5	2.99
115	8p23.1 microdeletion syndrome	Enrichment	GATA4	2.99
116	Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization	Enrichment	MME	2.99
117	Cardiomyopathy, familial hypertrophic, 30, atrial	Enrichment	CORIN	2.99
118	Charcot-marie-tooth disease type 2t	Enrichment	MME	2.99
119	Mme-related autosomal dominant charcot marie tooth disease type 2	Enrichment	MME	2.99
120	Aortic arch interruption	Enrichment	NKX2-5	2.99
121	Atrial heart septal defect 7	Enrichment	NKX2-5	2.99
122	Partial atrioventricular septal defect with ventricular hypoplasia	Enrichment	GATA4	2.99
123	Epicanthus	Enrichment	ABCC9, ATP1A3	2.97
124	Aortic aneurysm, familial thoracic 1	Enrichment	GATA4, MYH11, MYLK	2.96
125	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	PLN, RYR2, TTN	2.96
126	Brugada syndrome 4	Enrichment	CACNB2	2.96
127	Brugada syndrome 3	Enrichment	CACNA1C	2.96
128	Atypical timothy syndrome	Enrichment	CACNA1C	2.96
129	Timothy syndrome type 2	Enrichment	CACNA1C	2.96
130	Timothy syndrome type 1	Enrichment	CACNA1C	2.96
131	Cacna1c-related disorders	Enrichment	CACNA1C	2.96
132	Rare genetic deafness	Enrichment	KCNE1, KCNQ1	2.93
133	Spastic ataxia	Enrichment	ATP1A2, ATP2B3, CACNA1G, ITPR1, SCN2A	2.92
134	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	ATP2B1, RYR1	2.90
135	Clubfoot	Enrichment	ATP2B1, RYR1	2.90
136	Long qt syndrome 6	Enrichment	KCNE2	2.88
137	Atrial fibrillation, familial, 4	Enrichment	KCNE2	2.88
138	Cardiovascular system disease	Enrichment	KCNQ1	2.88
139	Nemaline myopathy 2	Enrichment	ACTA1, NEB	2.87
140	Myopathy, centronuclear, 2	Enrichment	RYR1, TTN	2.87
141	Mitral valve insufficiency	Enrichment	MYH11, TBX5	2.87
142	Familial sick sinus syndrome	Enrichment	MYH6, SCN5A	2.87
143	Hypokalemic periodic paralysis, type 1	Enrichment	KCNE3, SCN4A	2.86
144	Heritable pulmonary arterial hypertension	Enrichment	KCNK3	2.79
145	Creatine phosphokinase, elevated serum	Enrichment	CAV3, DMD, TCAP	2.78
146	Isolated elevated serum creatine phosphokinase levels	Enrichment	CAV3, DMD, TCAP	2.78
147	Focal epilepsy	Enrichment	SCN2A, SCN8A	2.72
148	Pulmonary hypertension, primary, 1	Enrichment	KCNK3	2.72
149	Platelet disorder, familial, with associated myeloid malignancy	Enrichment	KCNE2	2.70
150	Atrial fibrillation, familial, 3	Enrichment	KCNQ1	2.70
151	Short qt syndrome 2	Enrichment	KCNQ1	2.70
152	Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation	Enrichment	KCNH2	2.70
153	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1	Enrichment	KCNE2	2.70
154	Thumb deformity	Enrichment	TBX5	2.69
155	Atrial fibrillation, familial, 6	Enrichment	NPPA	2.69
156	Epiphyseal chondrodysplasia, miura type	Enrichment	NPR2	2.69
157	Acromesomelic dysplasia 1	Enrichment	NPR2	2.69
158	46,xy sex reversal 3	Enrichment	GATA4	2.69
159	Aortic valve disease 2	Enrichment	TBX5	2.69
160	Charcot-marie-tooth disease, axonal, type 2t	Enrichment	MME	2.69
161	Familial isolated congenital asplenia	Enrichment	NKX2-5	2.69
162	Deletion 5q35	Enrichment	NKX2-5	2.69
163	Congenital myopathy 1b, autosomal recessive	Enrichment	RYR1, TTN	2.66
164	Congenital myopathy 3 with rigid spine	Enrichment	ACTA1, TTN	2.66
165	Severe congenital nemaline myopathy	Enrichment	ACTA1, NEB	2.66
166	Timothy syndrome	Enrichment	CACNA1C	2.66
167	Long qt syndrome 8	Enrichment	CACNA1C	2.66
168	Beckwith-wiedemann syndrome	Enrichment	DMD, KCNQ1, RYR1	2.63
169	Amme complex	Enrichment	KCNE5	2.58
170	Cardiomyopathy, familial hypertrophic, 26	Enrichment	KCNH2	2.58
171	Pregnancy loss, recurrent 1	Enrichment	KCNQ1	2.58
172	Early myoclonic encephalopathy	Enrichment	KCND2	2.51
173	Atrial standstill 2	Enrichment	NPPA	2.51
174	Epilepsy, familial focal, with variable foci 2	Enrichment	NPR2	2.51
175	Developmental and epileptic encephalopathy 14	Enrichment	SCN1A, SCN2A	2.49
176	Atrial septal defect 1	Enrichment	TBX5, TPM1	2.48
177	Moyamoya disease 1	Enrichment	ACTA2, GUCY1A1	2.48
178	Inflammatory myofibroblastic tumor	Enrichment	TPM3, TPM4	2.48
179	Intestinal pseudo-obstruction	Enrichment	ACTG2, MYH11	2.48
180	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	Enrichment	CACNA1C	2.48
181	Cardiomyopathy, dilated, 1a	Enrichment	MYBPC3, TNNI3, TTN	2.43
182	Polymicrogyria	Enrichment	ATP1A2, SCN3A	2.40
183	Short stature with nonspecific skeletal abnormalities 1	Enrichment	NPR2	2.38
184	Malignant epithelioid hemangioendothelioma	Enrichment	WWTR1	2.38
185	Transposition of the great arteries	Enrichment	GATA4	2.38
186	Pseudomyogenic hemangioendothelioma	Enrichment	WWTR1	2.38
187	Anhidrosis, isolated, with normal sweat glands	Enrichment	ITPR2	2.38
188	Pyloric stenosis, infantile hypertrophic, 1	Enrichment	NOS1	2.38
189	Traboulsi syndrome	Enrichment	ASPH	2.38
190	Hyperinsulinemic hypoglycemia, familial, 2	Enrichment	KCNJ11	2.38
191	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	Enrichment	ATP1A3	2.38
192	Cardiomyopathy, dilated, 2a	Enrichment	TNNI3	2.38
193	Cardiomyopathy, familial hypertrophic, 7	Enrichment	TNNI3	2.38
194	Cardiac arrhythmia syndrome, with or without skeletal muscle weakness	Enrichment	TRDN	2.38
195	Alternating hemiplegia of childhood 2	Enrichment	ATP1A3	2.38
196	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	Enrichment	ATP1A2	2.38
197	Intellectual disability and myopathy syndrome	Enrichment	ABCC9	2.38
198	Intellectual developmental disorder, autosomal dominant 66	Enrichment	ATP2B1	2.38
199	Congenital myopathy 20	Enrichment	RYR3	2.38
200	Developmental and epileptic encephalopathy 99	Enrichment	ATP1A3	2.38
201	Deafness, autosomal dominant 82	Enrichment	ATP2B2	2.38
202	Charcot-marie-tooth disease, demyelinating, type 1j	Enrichment	ITPR3	2.38
203	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	2.38
204	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	2.38
205	Diabetes mellitus, transient neonatal, 3	Enrichment	KCNJ11	2.38
206	Immunodeficiency 10	Enrichment	STIM1	2.38
207	Myopathy, vacuolar, with casq1 aggregates	Enrichment	CASQ1	2.38
208	Long qt syndrome 16	Enrichment	CALM3	2.38
209	Diabetes mellitus, permanent neonatal, 2	Enrichment	KCNJ11	2.38
210	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.38
211	Maturity-onset diabetes of the young, type 13	Enrichment	KCNJ11	2.38
212	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.38
213	Developmental and epileptic encephalopathy 98	Enrichment	ATP1A2	2.38
214	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	2.38
215	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	2.38
216	Congenital myopathy with myasthenic-like onset	Enrichment	RYR1	2.38
217	Long qt syndrome 15	Enrichment	CALM2	2.38
218	Myopathy due to calsequestrin and serca1 protein overload	Enrichment	CASQ1	2.38
219	Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Enrichment	ITPR3	2.38
220	Atp1a3-related disorder	Enrichment	ATP1A3	2.38
221	Rhabdomyolysis 2	Enrichment	ATP2A2	2.38
222	Catecholaminergic polymorphic ventricular tachycardia 5	Enrichment	TRDN	2.38
223	Oculogyric crisis	Enrichment	ATP1A3	2.38
224	Hemiplegia	Enrichment	ATP1A3	2.38
225	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	Enrichment	CLIC2	2.38
226	Intermediate dend syndrome	Enrichment	KCNJ11	2.38
227	Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency	Enrichment	KCNJ11	2.38
228	Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy	Enrichment	RYR1	2.38
229	Benign samaritan congenital myopathy	Enrichment	RYR1	2.38
230	Autosomal dominant hyperinsulinism due to kir6.2 deficiency	Enrichment	KCNJ11	2.38
231	Autosomal recessive hyperinsulinism due to kir6.2 deficiency	Enrichment	KCNJ11	2.38
232	Wolff syndrome	Enrichment	ATP7B	2.38
233	Neuronopathy, distal hereditary motor, x-linked	Enrichment	ATP7A	2.38
234	Hailey-hailey disease	Enrichment	ATP2C1	2.38
235	Spastic paraplegia 78, autosomal recessive	Enrichment	ATP13A2	2.38
236	Neurodevelopmental disorder with poor growth and behavioral abnormalities	Enrichment	ATP9A	2.38
237	Hemolytic anemia, congenital, x-linked	Enrichment	ATP11C	2.38
238	Deafness, autosomal dominant 33	Enrichment	ATP11A	2.38
239	Occipital horn syndrome	Enrichment	ATP7A	2.38
240	Leukodystrophy, hypomyelinating, 24	Enrichment	ATP11A	2.38
241	Kufor-rakeb syndrome	Enrichment	ATP13A2	2.38
242	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4	Enrichment	ATP8A2	2.38
243	Intellectual disability, wolff type	Enrichment	ATP7B	2.38
244	Auditory neuropathy, autosomal dominant 2	Enrichment	ATP11A	2.38
245	Familial gastric type 1 neuroendocrine tumor	Enrichment	ATP4A	2.38
246	Parkinsonism due to atp13a2 deficiency	Enrichment	ATP13A2	2.38
247	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	ACTA2, ASPH, MYH11, MYLK	2.37
248	Cerebellar atrophy with seizures and variable developmental delay	Enrichment	CACNA2D2	2.35
249	Third-degree atrioventricular block	Enrichment	KCNA5, TTN	2.34
250	Silver-russell syndrome 1	Enrichment	KCNQ1	2.33
251	Atrioventricular septal defect	Enrichment	TBX5	2.29
252	Ventricular septal defect 1	Enrichment	GATA4	2.29
253	Congenital heart defects, multiple types, 4	Enrichment	GATA4	2.29
254	Pre-eclampsia	Enrichment	CORIN	2.29
255	Persistent truncus arteriosus	Enrichment	NKX2-5	2.29
256	Epilepsy, idiopathic generalized	Enrichment	KCNIP1	2.25
257	Multiple pterygium syndrome, lethal type	Enrichment	NEB, RYR1	2.22
258	Congenital muscular dystrophy	Enrichment	RYR1, TTN	2.22
259	Hypoplastic left heart syndrome	Enrichment	MYH6, NKX2-5	2.22
260	Conotruncal heart malformations	Enrichment	NKX2-5	2.21
261	Double outlet right ventricle	Enrichment	NKX2-5	2.21
262	Autosomal dominant non-syndromic intellectual disability	Enrichment	CACNA1I, CAMK2A, CAMK2B, SCN8A	2.17
263	Hypothyroidism, congenital, nongoitrous, 2	Enrichment	NKX2-5	2.14
264	Arrhythmogenic right ventricular dysplasia, familial, 9	Enrichment	PLN, TTN	2.12
265	Familial thoracic aortic aneurysm and dissection	Enrichment	MYH11, MYLK	2.12
266	Spinocerebellar ataxia 29	Enrichment	ITPR1	2.08
267	Seizures, benign familial neonatal, 1	Enrichment	ATP1A3	2.08
268	Hypomagnesemia 2, renal	Enrichment	FXYD2	2.08
269	Malignant hyperthermia 1	Enrichment	RYR1	2.08
270	Cardiomyopathy, familial restrictive, 1	Enrichment	TNNI3	2.08
271	Acrokeratosis verruciformis	Enrichment	ATP2A2	2.08
272	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Enrichment	RYR2	2.08
273	Spinocerebellar ataxia, x-linked 1	Enrichment	ATP2B3	2.08
274	Brody disease	Enrichment	ATP2A1	2.08
275	Migraine, familial hemiplegic, 2	Enrichment	ATP1A2	2.08
276	Spinocerebellar ataxia, x-linked 5	Enrichment	ATP2B3	2.08
277	Cardiomyopathy, dilated, 1o	Enrichment	ABCC9	2.08
278	Alternating hemiplegia of childhood 1	Enrichment	ATP1A2	2.08
279	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	2.08
280	Cardiomyopathy, dilated, 1p	Enrichment	PLN	2.08
281	Diabetes mellitus, permanent neonatal, 1	Enrichment	KCNJ11	2.08
282	Immunodeficiency 9	Enrichment	ORAI1	2.08
283	Atrial fibrillation, familial, 12	Enrichment	ABCC9	2.08
284	Cardiomyopathy, familial hypertrophic, 18	Enrichment	PLN	2.08
285	Cardiomyopathy, dilated, 1ff	Enrichment	TNNI3	2.08
286	Long qt syndrome 14	Enrichment	CALM1	2.08
287	Charcot-marie-tooth disease, axonal, type 2dd	Enrichment	ATP1A1	2.08
288	Familial hemiplegic migraine	Enrichment	ATP1A2	2.08
289	Myopathy, tubular aggregate, 2	Enrichment	ORAI1	2.08
290	King-denborough syndrome	Enrichment	RYR1	2.08
291	Hypomagnesemia, seizures, and impaired intellectual development 2	Enrichment	ATP1A1	2.08
292	Fibrolamellar carcinoma	Enrichment	PRKACA	2.08
293	Dental caries	Enrichment	ATP2B3	2.08
294	Hyperinsulinism	Enrichment	KCNJ11	2.08
295	Developmental and epileptic encephalopathy 93	Enrichment	ATP7B	2.08
296	Deafness, autosomal recessive 109	Enrichment	ATP7B	2.08
297	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome	Enrichment	ATP8A2	2.08
298	Deafness, autosomal dominant 84	Enrichment	ATP11A	2.08
299	West syndrome	Enrichment	SCN1A, SCN2A, SCN8A	2.05
300	Dystonia	Enrichment	ATP1A3, CAMK2B	2.04
301	Ventricular septal defect	Enrichment	TBX5	2.03
302	Spinocerebellar ataxia 27a	Enrichment	FGF14	2.01
303	Brugada syndrome 5	Enrichment	SCN1B	2.01
304	Long qt syndrome 10	Enrichment	SCN4B	2.01
305	Episodic pain syndrome, familial, 3	Enrichment	SCN11A	2.01
306	Developmental and epileptic encephalopathy 11	Enrichment	SCN2A	2.01
307	Neuropathy, hereditary sensory and autonomic, type vii	Enrichment	SCN11A	2.01
308	Atrial fibrillation, familial, 14	Enrichment	SCN2B	2.01
309	Intellectual developmental disorder, x-linked 110	Enrichment	FGF13	2.01
310	Spinocerebellar ataxia 27b, late-onset	Enrichment	FGF14	2.01
311	Myoclonus, familial, 2	Enrichment	SCN8A	2.01
312	Developmental and epileptic encephalopathy 62	Enrichment	SCN3A	2.01
313	Developmental and epileptic encephalopathy 90	Enrichment	FGF13	2.01
314	Atrial fibrillation, familial, 13	Enrichment	SCN1B	2.01
315	Episodic ataxia, type 9	Enrichment	SCN2A	2.01
316	Episodic pain syndrome, familial, 2	Enrichment	SCN10A	2.01
317	Benign familial infantile epilepsy	Enrichment	SCN2A	2.01
318	Brugada syndrome 7	Enrichment	SCN3B	2.01
319	Epilepsy, familial focal, with variable foci 4	Enrichment	SCN3A	2.01
320	Developmental and epileptic encephalopathy 47	Enrichment	FGF12	2.01
321	Muscular channelopathy	Enrichment	SCN4A	2.01
322	Spinocerebellar ataxia type 27b	Enrichment	FGF14	2.01
323	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	CACNA1C	2.00
324	Darier-white disease	Enrichment	ATP2A2	1.91
325	Cantu syndrome	Enrichment	ABCC9	1.91
326	Gillespie syndrome	Enrichment	ITPR1	1.91
327	Lynch syndrome 5	Enrichment	RYR1	1.91
328	Bronchopulmonary dysplasia	Enrichment	RYR1	1.91
329	Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities	Enrichment	ATP2B1	1.91
330	Muscular atrophy	Enrichment	ATP2B3	1.91
331	Dend syndrome	Enrichment	KCNJ11	1.91
332	Cholestasis, intrahepatic, of pregnancy, 1	Enrichment	ATP8B1	1.90
333	Cholestasis, benign recurrent intrahepatic, 1	Enrichment	ATP8B1	1.90
334	Wilson disease	Enrichment	ATP7B	1.90
335	Menkes disease	Enrichment	ATP7A	1.90
336	Breast-ovarian cancer, familial 5	Enrichment	ATP7B	1.90
337	Angelman syndrome due to imprinting defect in 15q11-q13	Enrichment	ATP10A	1.90
338	Early infantile developmental and epileptic encephalopathy	Enrichment	SCN1B, SCN2A	1.89
339	Aortic valve disease 1	Enrichment	NKX2-5	1.87
340	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	RYR2, TTN	1.87
341	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	RYR2, TTN	1.87
342	46,xy partial gonadal dysgenesis	Enrichment	GATA4	1.84
343	Cardiomyopathy, familial hypertrophic, 2	Enrichment	TNNT2	1.82
344	Cardiomyopathy, familial hypertrophic, 3	Enrichment	TPM1	1.82
345	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	Enrichment	MYH3	1.82
346	Pulmonary atresia with intact ventricular septum	Enrichment	TPM1	1.82
347	Myopathy, distal, with anterior tibial onset	Enrichment	DYSF	1.82
348	Muscular dystrophy, becker type	Enrichment	DMD	1.82
349	Cardiomyopathy, familial hypertrophic, 8	Enrichment	MYL3	1.82
350	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	Enrichment	ACTN2	1.82
351	Cardiomyopathy, familial restrictive, 3	Enrichment	TNNT2	1.82
352	Congenital myopathy 23	Enrichment	TPM2	1.82
353	Congenital myopathy 2a, typical, autosomal dominant	Enrichment	ACTA1	1.82
354	Left ventricular noncompaction 10	Enrichment	MYBPC3	1.82
355	Congenital myopathy 4b, autosomal recessive	Enrichment	TPM3	1.82
356	Nemaline myopathy 5a, autosomal recessive, severe infantile	Enrichment	TNNT1	1.82
357	Lethal congenital contracture syndrome 4	Enrichment	MYBPC1	1.82
358	Myopathy, scapulohumeroperoneal	Enrichment	ACTA1	1.82
359	Cardiomyopathy, dilated, 1ee	Enrichment	MYH6	1.82
360	Sick sinus syndrome 3	Enrichment	MYH6	1.82
361	Scapuloperoneal syndrome, neurogenic, kaeser type	Enrichment	DES	1.82
362	Congenital myopathy 16	Enrichment	MYBPC1	1.82
363	Megacystis-microcolon-intestinal hypoperistalsis syndrome 5	Enrichment	ACTG2	1.82
364	Muscular dystrophy, limb-girdle, autosomal recessive 7	Enrichment	TCAP	1.82
365	Bleeding disorder, platelet-type, 25	Enrichment	TPM4	1.82
366	Neurodevelopmental disorder with speech impairment and with or without seizures	Enrichment	CACNA1I	1.82
367	Knobloch syndrome 2	Enrichment	PAK2	1.82
368	Congenital myopathy 8	Enrichment	ACTN2	1.82
369	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	1.82
370	Cardiomyopathy, dilated, 3b	Enrichment	DMD	1.82
371	Atrial fibrillation, familial, 18	Enrichment	MYL4	1.82
372	Alcohol sensitivity, acute	Enrichment	ALDH2	1.82
373	Cardiomyopathy, dilated, 1w	Enrichment	VCL	1.82
374	Epilepsy, childhood absence 6	Enrichment	CACNA1H	1.82
375	Actn3 deficiency	Enrichment	ACTN3	1.82
376	Visceral neuropathy, familial, 3, autosomal dominant	Enrichment	ACTG2	1.82
377	Cardiomyopathy, familial hypertrophic, 14	Enrichment	MYH6	1.82
378	Autosomal recessive limb-girdle muscular dystrophy type 2g	Enrichment	TCAP	1.82
379	Cardiomyopathy, familial hypertrophic, 15	Enrichment	VCL	1.82
380	Congenital myopathy 2b, severe infantile, autosomal recessive	Enrichment	ACTA1	1.82
381	Moyamoya disease 6 with or without achalasia	Enrichment	GUCY1A1	1.82
382	Autosomal dominant familial visceral neuropathy	Enrichment	ACTG2	1.82
383	Spinocerebellar ataxia 42	Enrichment	CACNA1G	1.82
384	Cardiomyopathy, dilated, 1z	Enrichment	TNNC1	1.82
385	Cardiomyopathy, familial hypertrophic, 13	Enrichment	TNNC1	1.82
386	Arthrogryposis, distal, type 1b	Enrichment	MYBPC1	1.82
387	Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits	Enrichment	CACNA1G	1.82
388	Hyperaldosteronism, familial, type iv	Enrichment	CACNA1H	1.82
389	Congenital myopathy 15	Enrichment	TNNC2	1.82
390	Congenital myopathy 2c, severe infantile, autosomal dominant	Enrichment	ACTA1	1.82
391	Myopathy, distal, 6, adult-onset, autosomal dominant	Enrichment	ACTN2	1.82
392	Congenital myopathy 14	Enrichment	MYL1	1.82
393	Nemaline myopathy 5b, autosomal recessive, childhood-onset	Enrichment	TNNT1	1.82
394	Moyamoya disease with early-onset achalasia	Enrichment	GUCY1A1	1.82
395	Megacystis-microcolon-intestinal hypoperistalsis syndrome 3	Enrichment	LMOD1	1.82
396	Arthrogryposis, distal, type 2b2	Enrichment	TNNT3	1.82
397	Nemaline myopathy 5a	Enrichment	TNNT1	1.82
398	Mybpc1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Enrichment	MYBPC1	1.82
399	Symptomatic form of muscular dystrophy of duchenne and becker in female carriers	Enrichment	DMD	1.82
400	Conn's syndrome	Enrichment	CACNA1H	1.82
401	Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome	Enrichment	TTN	1.82
402	Zebra body myopathy	Enrichment	ACTA1	1.82
403	Capillary leak syndrome	Enrichment	TLN1	1.82
404	Duchenne and becker muscular dystrophy	Enrichment	DMD	1.82
405	Actin-accumulation myopathy	Enrichment	ACTA1	1.82
406	Premature aging	Enrichment	VIM	1.82
407	Myopathic intestinal pseudoobstruction	Enrichment	ACTG2	1.82
408	Congenital generalized hypercontractile muscle stiffness syndrome	Enrichment	TPM3	1.82
409	Distal nebulin myopathy	Enrichment	NEB	1.82
410	Qualitative or quantitative defects of dystrophin	Enrichment	DMD	1.82
411	Actg2 visceral myopathy	Enrichment	ACTG2	1.82
412	Congenital myopathy, paradas type	Enrichment	DYSF	1.82
413	Ear malformation	Enrichment	KCNQ1	1.80
414	Hypertension	Enrichment	CORIN	1.79
415	Congenital myopathy 1a, autosomal dominant, with malignant hyperthermia	Enrichment	RYR1	1.78
416	Myotonic dystrophy 1	Enrichment	DMPK	1.78
417	Sacral defect with anterior meningocele	Enrichment	RYR1	1.78
418	Dermatitis, atopic	Enrichment	KCNJ11	1.78
419	Amyotrophy, monomelic	Enrichment	RYR3	1.78
420	Myopathy, autophagic vacuolar, infantile-onset	Enrichment	STIM1	1.78
421	Spinocerebellar ataxia 15	Enrichment	ITPR1	1.78
422	Intellectual developmental disorder, autosomal dominant 26	Enrichment	RYR1	1.78
423	Neonatal diabetes mellitus	Enrichment	KCNJ11	1.78
424	Congenital myopathy 1a	Enrichment	RYR1	1.78
425	Idiopathic achalasia	Enrichment	NOS1	1.78
426	Intrahepatic cholestasis of pregnancy	Enrichment	ATP8B1	1.78
427	Atrial standstill 1	Enrichment	SCN5A	1.71
428	Progressive familial heart block, type ia	Enrichment	SCN5A	1.71
429	Paramyotonia congenita	Enrichment	SCN4A	1.71
430	Batten-turner congenital myopathy	Enrichment	SCN4A	1.71
431	Indifference to pain, congenital, autosomal recessive	Enrichment	SCN9A	1.71
432	Seizures, benign familial infantile, 3	Enrichment	SCN2A	1.71
433	Sick sinus syndrome 1	Enrichment	SCN5A	1.71
434	Myotonia, potassium-aggravated	Enrichment	SCN4A	1.71
435	Atrial fibrillation, familial, 10	Enrichment	SCN5A	1.71
436	Migraine, familial hemiplegic, 3	Enrichment	SCN1A	1.71
437	Cognitive impairment with or without cerebellar ataxia	Enrichment	SCN8A	1.71
438	Long qt syndrome 3	Enrichment	SCN5A	1.71
439	Developmental and epileptic encephalopathy 6b	Enrichment	SCN1A	1.71
440	Sinoatrial node disease	Enrichment	SCN5A	1.71
441	Congenital myopathy 22a, classic	Enrichment	SCN4A	1.71
442	Congenital myopathy 22b, severe fetal	Enrichment	SCN4A	1.71
443	Myasthenic syndrome, congenital, 16	Enrichment	SCN4A	1.71
444	Benign familial neonatal epilepsy	Enrichment	SCN2A	1.71
445	Developmental and epileptic encephalopathy 30	Enrichment	SCN2A	1.71
446	Hypokalemic periodic paralysis, type 2	Enrichment	SCN4A	1.71
447	Scn1a seizure disorders	Enrichment	SCN1A	1.71
448	Seizures, benign familial infantile, 5	Enrichment	SCN8A	1.71
449	Malignant migrating partial seizures of infancy	Enrichment	SCN2A	1.71
450	Developmental and epileptic encephalopathy 76	Enrichment	SCN1A	1.71
451	Small fiber neuropathy	Enrichment	SCN9A	1.71
452	Benign neonatal seizures	Enrichment	SCN2A	1.71
453	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	MME	1.71
454	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ATP11A, ATP2B2	1.70
455	Craniosynostosis	Enrichment	NPR2	1.69
456	Transient neonatal diabetes mellitus	Enrichment	KCNJ11	1.69
457	Hypoglycemia	Enrichment	KCNJ11	1.69
458	Developmental and epileptic encephalopathy 1	Enrichment	SCN1A, SCN8A	1.61
459	Myopathy, centronuclear, 1	Enrichment	RYR1	1.61
460	Hyperinsulinemic hypoglycemia, familial, 1	Enrichment	KCNJ11	1.61
461	Pierre robin syndrome	Enrichment	ATP2B1	1.61
462	Deafness, autosomal recessive 12	Enrichment	ATP2B2	1.61
463	Kleefstra syndrome 1	Enrichment	ABCC9	1.61
464	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	1.61
465	Patent ductus arteriosus	Enrichment	ABCC9	1.61
466	Hypertrichosis	Enrichment	KCNJ11	1.61
467	Nonsyndromic genetic hyperinsulinism	Enrichment	KCNJ11	1.61
468	Cholestasis, progressive familial intrahepatic, 1	Enrichment	ATP8B1	1.60
469	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	Enrichment	ATP8A2	1.60
470	Bethlem myopathy 1a	Enrichment	DMPK	1.54
471	Megacolon	Enrichment	SLC8A1	1.54
472	Generalized epilepsy with febrile seizures plus, type 2	Enrichment	SCN1A	1.54
473	Developmental and epileptic encephalopathy 13	Enrichment	SCN8A	1.54
474	Generalized epilepsy with febrile seizures plus, type 7	Enrichment	SCN9A	1.54
475	Tremor, hereditary essential, 6	Enrichment	SCN4A	1.54
476	Hereditary episodic ataxia	Enrichment	SCN2A	1.54
477	Progressive familial intrahepatic cholestasis	Enrichment	ATP8B1	1.54
478	Aortic aneurysm, familial thoracic 4	Enrichment	MYH11	1.52
479	Arthrogryposis, distal, type 2a	Enrichment	MYH3	1.52
480	Miyoshi muscular dystrophy 1	Enrichment	DYSF	1.52
481	Lethal congenital contracture syndrome 3	Enrichment	MYBPC1	1.52
482	Aortic aneurysm, familial thoracic 2	Enrichment	ACTA2	1.52
483	Cardiomyopathy, dilated, 1r	Enrichment	ACTC1	1.52
484	Arthrogryposis, distal, type 7	Enrichment	MYH8	1.52
485	Cardiomyopathy, familial hypertrophic, 11	Enrichment	ACTC1	1.52
486	Smooth muscle dysfunction syndrome	Enrichment	ACTA2	1.52
487	Aortic aneurysm, familial thoracic 6	Enrichment	ACTA2	1.52
488	Moyamoya disease 5	Enrichment	ACTA2	1.52
489	Cardiomyopathy, dilated, 1dd	Enrichment	TNNT2	1.52
490	Atrial septal defect 5	Enrichment	ACTC1	1.52
491	Amed syndrome, digenic	Enrichment	ALDH2	1.52
492	Arthrogryposis, distal, type 2b3	Enrichment	MYH3	1.52
493	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2	Enrichment	MYH11	1.52
494	Cardiomyopathy, dilated, 1d	Enrichment	TNNT2	1.52
495	Nemaline myopathy 5c, autosomal dominant	Enrichment	TNNT1	1.52
496	Atrial septal defect 3	Enrichment	MYH6	1.52
497	Progressive familial heart block	Enrichment	DES	1.52
498	Cataract 30	Enrichment	VIM	1.52
499	Cardiomyopathy, familial hypertrophic, 10	Enrichment	MYL2	1.52
500	Visceral myopathy 2	Enrichment	MYH11	1.52
501	Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	Enrichment	MYL2	1.52
502	Arthrogryposis, distal, type 1c	Enrichment	MYL11	1.52
503	Megacystis-microcolon-intestinal hypoperistalsis syndrome 4	Enrichment	MYL9	1.52
504	Inclusion myopathy	Enrichment	TTN	1.52
505	Qualitative or quantitative defects of caveolin-3	Enrichment	CAV3	1.52
506	Intestinal obstruction	Enrichment	ACTG2	1.52
507	Carney complex - trismus - pseudocamptodactyly syndrome	Enrichment	MYH8	1.52
508	Sensorineural hearing loss	Enrichment	KCNE1	1.50
509	Peripheral nervous system disease	Enrichment	MME	1.49
510	Neuropathy	Enrichment	MME	1.49
511	Fanconi anemia, complementation group c	Enrichment	ABCC9	1.49
512	Permanent neonatal diabetes mellitus	Enrichment	KCNJ11	1.49
513	Body mass index quantitative trait locus 11	Enrichment	KCNH2	1.49
514	Complex neurodevelopmental disorder	Enrichment	ATP2B1, CACNA1C, SCN2A, SCN8A	1.48
515	Ellis-van creveld syndrome	Enrichment	PRKACA	1.44
516	Neuropathy, hereditary sensory and autonomic, type iia	Enrichment	SCN9A	1.42
517	Hyperkalemic periodic paralysis	Enrichment	SCN4A	1.42
518	Developmental and epileptic encephalopathy 12	Enrichment	SCN2A	1.42
519	Hereditary sensory and autonomic neuropathy type 2	Enrichment	SCN9A	1.42
520	Developmental and epileptic encephalopathy 52	Enrichment	SCN1B	1.42
521	Sotos syndrome 1	Enrichment	SCN4A	1.42
522	Episodic ataxia	Enrichment	SCN2A	1.42
523	Sick sinus syndrome	Enrichment	SCN5A	1.42
524	Neurodegeneration with brain iron accumulation	Enrichment	ATP13A2	1.38
525	Cerebral palsy	Enrichment	CACNA1C	1.37
526	Diabetes mellitus	Enrichment	KCNJ11	1.35
527	Muscular dystrophy, duchenne type	Enrichment	DMD	1.35
528	Rippling muscle disease 2	Enrichment	CAV3	1.35
529	Spondylocarpotarsal synostosis syndrome	Enrichment	MYH3	1.35
530	Long qt syndrome 9	Enrichment	CAV3	1.35
531	Nonaka myopathy	Enrichment	TTN	1.35
532	Aortic aneurysm, familial thoracic 7	Enrichment	MYLK	1.35
533	Myopathy, distal, tateyama type	Enrichment	CAV3	1.35
534	Arthrogryposis multiplex congenita 6	Enrichment	NEB	1.35
535	Tricuspid valve insufficiency	Enrichment	MYH11	1.35
536	Dysferlinopathy	Enrichment	DYSF	1.35
537	Sotos syndrome	Enrichment	SCN4A	1.32
538	Convulsions, familial infantile, with paroxysmal choreoathetosis	Enrichment	SCN8A	1.32
539	Sensory peripheral neuropathy	Enrichment	SCN11A	1.32
540	Multiple sclerosis	Enrichment	ITPR1	1.25
541	Periventricular nodular heterotopia	Enrichment	ATP2B1	1.25
542	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	GATA4	1.25
543	Pain disorder	Enrichment	SCN4A	1.24
544	Autoimmune lymphoproliferative syndrome	Enrichment	ACTA2	1.23
545	Carney complex variant	Enrichment	MYH8	1.23
546	Left ventricular noncompaction 2	Enrichment	TTN	1.23
547	Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1b	Enrichment	MYH3	1.23
548	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	MYH11	1.23
549	Knobloch syndrome	Enrichment	PAK2	1.23
550	Anterior segment dysgenesis	Enrichment	ITPR1	1.22
551	Hydrocephalus, congenital, 1	Enrichment	ATP1A3	1.19
552	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	SCN3A	1.18
553	Hypertension, essential	Enrichment	ATP1B1	1.17
554	Interstitial lung disease 2	Enrichment	ATP11A	1.16
555	Feingold syndrome 1	Enrichment	TTN	1.13
556	Arrhythmogenic right ventricular dysplasia, familial, 1	Enrichment	TTN	1.13
557	Knobloch syndrome 1	Enrichment	PAK2	1.13
558	Autosomal recessive limb-girdle muscular dystrophy type 2b	Enrichment	DYSF	1.13
559	Arrhythmogenic right ventricular dysplasia 1	Enrichment	TTN	1.13
560	Histiocytoid hemangioma	Enrichment	VIM	1.13
561	Lennox-gastaut syndrome	Enrichment	SCN1A	1.12
562	Maturity-onset diabetes of the young	Enrichment	KCNJ11	1.10
563	Myoclonic-atonic epilepsy	Enrichment	SCN1A	1.07
564	Bilateral perisylvian polymicrogyria	Enrichment	SCN3A	1.07
565	Familial isolated arrhythmogenic right ventricular dysplasia	Enrichment	SCN5A	1.07
566	Alcohol dependence	Enrichment	ALDH2	1.06
567	Childhood absence epilepsy	Enrichment	CACNA1H	1.06
568	Microcephaly	Enrichment	ATP2B3, CAMK2B	1.04
569	Scoliosis	Enrichment	RYR1	1.02
570	Myofibrillar myopathy	Enrichment	DES	1.00
571	Movement disease	Enrichment	SCN2A	0.99
572	Postsynaptic congenital myasthenic syndromes	Enrichment	SCN4A	0.96
573	Orthostatic intolerance	Enrichment	TTN	0.94
574	Hirschsprung disease 1	Enrichment	ATP7A	0.94
575	Orofacial cleft 1	Enrichment	TTN	0.89
576	Primary hyperaldosteronism	Enrichment	CACNA1H	0.89
577	Limb-girdle muscular dystrophy	Enrichment	TTN	0.89
578	Cataract 30, multiple types	Enrichment	VIM	0.85
579	Tibial muscular dystrophy, tardive	Enrichment	TTN	0.85
580	Myopathy, myofibrillar, 9, with early respiratory failure	Enrichment	TTN	0.85
581	Tibial muscular dystrophy	Enrichment	TTN	0.85
582	Autosomal dominant macrothrombocytopenia	Enrichment	TPM4	0.85
583	Pectus excavatum	Enrichment	DMD	0.81
584	Cardiomyopathy, familial hypertrophic, 9	Enrichment	TTN	0.81
585	Type 2 diabetes mellitus	Enrichment	KCNJ11	0.80
586	Muscular dystrophy, limb-girdle, autosomal recessive 2	Enrichment	DYSF	0.78
587	Congenital myopathy 5 with cardiomyopathy	Enrichment	TTN	0.75
588	Lung cancer susceptibility 3	Enrichment	ACTA2	0.72
589	Malaria	Enrichment	SCN8A	0.70
590	Myopia	Enrichment	MYH11	0.69
591	Primary ovarian insufficiency	Enrichment	RYR3	0.66
592	Muscular dystrophy, limb-girdle, autosomal recessive 10	Enrichment	TTN	0.60
593	Autosomal recessive limb-girdle muscular dystrophy	Enrichment	DYSF	0.60
594	Autosomal recessive limb-girdle muscular dystrophy type 2j	Enrichment	TTN	0.56
595	Cardiomyopathy, dilated, 1g	Enrichment	TTN	0.55
596	Myocardial infarction	Enrichment	GUCY1A1	0.55
597	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ATP2B2	0.51
598	Hydrops fetalis, nonimmune	Enrichment	ACTA1	0.49
599	Congenital nervous system abnormality	Enrichment	CAMK2B	0.45
600	Nervous system disease	Enrichment	CAMK2B	0.45
601	Non-immune hydrops fetalis	Enrichment	ACTA1	0.42
602	Lung cancer	Enrichment	ACTA2	0.41
603	Connective tissue disease	Enrichment	ACTA2	0.41
604	Fanconi anemia, complementation group a	Enrichment	DMD	0.38
605	Non-syndromic x-linked intellectual disability	Enrichment	DMD	0.37
606	Schizophrenia	Enrichment	DMD	0.23
607	Autism spectrum disorder	Enrichment	SCN2A	0.18
608	Colorectal cancer	Enrichment	DMD	0.13

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

Cardiac conduction

Pathway Network for Cardiac conduction

Pathway network for the Cardiac conduction SuperPath

Member Pathways for Cardiac conduction

Pathways in the Cardiac conduction SuperPath

Gene overlap in member pathways for Cardiac conduction SuperPath

Associated Genes for Cardiac conduction

Associated Disorders for Cardiac conduction

Disorders associated with Cardiac conduction SuperPath

STRING Interaction Network for Cardiac conduction

Sources for Cardiac conduction