Ion channel transport

No Pathway Network information available for Ion channel transport

Pathways in the Ion channel transport SuperPath

#	Name	Source	Genes
1	Ion channel transport	Reactome	ANO1 ANO10 ANO2 ANO3 ANO4 ANO5 ANO6 ANO7 ANO8 ANO9 ASIC1 ASIC2 ASIC3 ASIC4 ASIC5 ASPH 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 ATP6AP1 ATP6V0A1 ATP6V0A2 ATP6V0A4 ATP6V0B ATP6V0C ATP6V0D1 ATP6V0D2 ATP6V0E1 ATP6V0E2 ATP6V1A ATP6V1B1 ATP6V1B2 ATP6V1C1 ATP6V1C2 ATP6V1D ATP6V1E1 ATP6V1E2 ATP6V1F ATP6V1G1 ATP6V1G2 ATP6V1G3 ATP6V1H ATP7A ATP7B ATP8A1 ATP8A2 ATP8B1 ATP8B2 ATP8B3 ATP8B4 ATP9A ATP9B BEST1 BEST2 BEST3 BEST4 BSND CALM1 CALM2 CALM3 CAMK2A CAMK2B CAMK2D CAMK2G CASQ1 CASQ2 CLCA1 CLCA2 CLCA4 CLCN1 CLCN2 CLCN3 CLCN4 CLCN5 CLCN6 CLCN7 CLCNKA CLCNKB CLIC2 CUTC FKBP1B FXYD1 FXYD2 FXYD3 FXYD4 FXYD6 FXYD7 MCOLN1 MCOLN2 MCOLN3 NALCN NEDD4L OSTM1 PDZD11 PLN RAF1 RIPK1 RIPK3 RPS27A RYR1 RYR2 RYR3 SCNN1A SCNN1B SCNN1D SCNN1G SGK1 SGK2 SGK3 SLC17A3 SLC9B1 SLC9B2 SLC9C1 SLC9C2 SLN SRI STOM STOML3 TCIRG1 TPCN1 TPCN2 TRDN TRPA1 TRPC1 TRPC3 TRPC4 TRPC4AP TRPC5 TRPC6 TRPC7 TRPM1 TRPM2 TRPM3 TRPM4 TRPM5 TRPM6 TRPM7 TRPM8 TRPV1 TRPV2 TRPV3 TRPV4 TRPV5 TRPV6 TSC22D3 TTYH1 TTYH2 TTYH3 UBA52 UBB UBC UNC79 UNC80 WNK1 WNK2 WNK3 WNK4 WWP1 (see all 184) (see less)
2	Stimuli-sensing channels	Reactome	ANO1 ANO10 ANO2 ANO3 ANO4 ANO5 ANO6 ANO7 ANO8 ANO9 ASIC1 ASIC2 ASIC3 ASIC4 ASIC5 ASPH BEST1 BEST2 BEST3 BEST4 BSND CALM1 CALM2 CALM3 CASQ1 CASQ2 CLCA1 CLCA2 CLCA4 CLCN1 CLCN2 CLCN3 CLCN4 CLCN5 CLCN6 CLCN7 CLCNKA CLCNKB CLIC2 FKBP1B MCOLN1 MCOLN2 MCOLN3 NALCN NEDD4L OSTM1 RAF1 RIPK1 RIPK3 RPS27A RYR1 RYR2 RYR3 SCNN1A SCNN1B SCNN1D SCNN1G SGK1 SGK2 SGK3 SLC17A3 SLC9B1 SLC9B2 SLC9C1 SLC9C2 SRI STOM STOML3 TPCN1 TPCN2 TRDN TRPA1 TRPC1 TRPC3 TRPC4 TRPC4AP TRPC5 TRPC6 TRPC7 TRPM1 TRPM2 TRPM3 TRPM4 TRPM5 TRPM6 TRPM7 TRPM8 TRPV1 TRPV2 TRPV3 TRPV4 TRPV5 TRPV6 TSC22D3 TTYH1 TTYH2 TTYH3 UBA52 UBB UBC UNC79 UNC80 WNK1 WNK2 WNK3 WNK4 WWP1 (see all 107) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	SGK2	Serum/Glucocorticoid Regulated Kinase 2	Protein Coding	2
2	TRDN	Triadin	Protein Coding	2
3	SLC17A3	Solute Carrier Family 17 Member 3	Protein Coding	2
4	RIPK3	Receptor Interacting Serine/Threonine Kinase 3	Protein Coding	2
5	WWP1	WW Domain Containing E3 Ubiquitin Protein Ligase 1	Protein Coding	2
6	CLCA1	Chloride Channel Accessory 1	Protein Coding	2
7	CLCN1	Chloride Voltage-Gated Channel 1	Protein Coding	2
8	CLCN2	Chloride Voltage-Gated Channel 2	Protein Coding	2
9	CLCN3	Chloride Voltage-Gated Channel 3	Protein Coding	2
10	CLCN4	Chloride Voltage-Gated Channel 4	Protein Coding	2
11	CLCN5	Chloride Voltage-Gated Channel 5	Protein Coding	2
12	CLCN6	Chloride Voltage-Gated Channel 6	Protein Coding	2
13	CLCN7	Chloride Voltage-Gated Channel 7	Protein Coding	2
14	CLCNKA	Chloride Voltage-Gated Channel Ka	Protein Coding	2
15	CLCNKB	Chloride Voltage-Gated Channel Kb	Protein Coding	2
16	CLIC2	Chloride Intracellular Channel 2	Protein Coding	2
17	ANO4	Anoctamin 4	Protein Coding	2
18	SLC9B2	Solute Carrier Family 9 Member B2	Protein Coding	2
19	TRPM6	Transient Receptor Potential Cation Channel Subfamily M Member 6	Protein Coding	2
20	BEST3	Bestrophin 3	Protein Coding	2
21	SLC9B1	Solute Carrier Family 9 Member B1	Protein Coding	2
22	STOML3	Stomatin Like 3	Protein Coding	2
23	TRPV3	Transient Receptor Potential Cation Channel Subfamily V Member 3	Protein Coding	2
24	TSC22D3	TSC22 Domain Family Member 3	Protein Coding	2
25	ANO6	Anoctamin 6	Protein Coding	2
26	ANO5	Anoctamin 5	Protein Coding	2
27	STOM	Stomatin	Protein Coding	2
28	TPCN2	Two Pore Segment Channel 2	Protein Coding	2
29	CLCA4	Chloride Channel Accessory 4	Protein Coding	2
30	FKBP1B	FKBP Prolyl Isomerase 1B	Protein Coding	2
31	NEDD4L	NEDD4 Like E3 Ubiquitin Protein Ligase	Protein Coding	2
32	SGK3	Serum/Glucocorticoid Regulated Kinase Family Member 3	Protein Coding	2
33	MCOLN2	Mucolipin TRP Cation Channel 2	Protein Coding	2
34	NALCN	Sodium Leak Channel, Non-Selective	Protein Coding	2
35	TRPC4AP	Transient Receptor Potential Cation Channel Subfamily C Member 4 Associated Protein	Protein Coding	2
36	BEST4	Bestrophin 4	Protein Coding	2
37	SLC9C2	Solute Carrier Family 9 Member C2 (Putative)	Protein Coding	2
38	UNC80	Unc-80 Subunit Of NALCN Channel Complex	Protein Coding	2
39	SLC9C1	Solute Carrier Family 9 Member C1	Protein Coding	2
40	OSTM1	Osteoclastogenesis Associated Transmembrane Protein 1	Protein Coding	2
41	TRPM5	Transient Receptor Potential Cation Channel Subfamily M Member 5	Protein Coding	2
42	ANO9	Anoctamin 9	Protein Coding	2
43	ASIC2	Acid Sensing Ion Channel Subunit 2	Protein Coding	2
44	ASIC1	Acid Sensing Ion Channel Subunit 1	Protein Coding	2
45	TRPM1	Transient Receptor Potential Cation Channel Subfamily M Member 1	Protein Coding	2
46	ASPH	Aspartate Beta-Hydroxylase	Protein Coding	2
47	ANO7	Anoctamin 7	Protein Coding	2
48	TRPV2	Transient Receptor Potential Cation Channel Subfamily V Member 2	Protein Coding	2
49	ASIC5	Acid Sensing Ion Channel Subunit Family Member 5	Protein Coding	2
50	TPCN1	Two Pore Segment Channel 1	Protein Coding	2
51	TRPM4	Transient Receptor Potential Cation Channel Subfamily M Member 4	Protein Coding	2
52	TRPM7	Transient Receptor Potential Cation Channel Subfamily M Member 7	Protein Coding	2
53	BEST2	Bestrophin 2	Protein Coding	2
54	ANO1	Anoctamin 1	Protein Coding	2
55	ANO10	Anoctamin 10	Protein Coding	2
56	MCOLN3	Mucolipin TRP Cation Channel 3	Protein Coding	2
57	TRPV6	Transient Receptor Potential Cation Channel Subfamily V Member 6	Protein Coding	2
58	ASIC4	Acid Sensing Ion Channel Subunit Family Member 4	Protein Coding	2
59	TRPV5	Transient Receptor Potential Cation Channel Subfamily V Member 5	Protein Coding	2
60	ANO2	Anoctamin 2	Protein Coding	2
61	TRPC7	Transient Receptor Potential Cation Channel Subfamily C Member 7	Protein Coding	2
62	MCOLN1	Mucolipin TRP Cation Channel 1	Protein Coding	2
63	TTYH1	Tweety Family Member 1	Protein Coding	2
64	UNC79	Unc-79 Subunit Of NALCN Channel Complex	Protein Coding	2
65	ANO8	Anoctamin 8	Protein Coding	2
66	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	2
67	TRPV4	Transient Receptor Potential Cation Channel Subfamily V Member 4	Protein Coding	2
68	RPS27A	Ribosomal Protein S27a	Protein Coding	2
69	RYR1	Ryanodine Receptor 1	Protein Coding	2
70	RYR2	Ryanodine Receptor 2	Protein Coding	2
71	RYR3	Ryanodine Receptor 3	Protein Coding	2
72	SCNN1A	Sodium Channel Epithelial 1 Subunit Alpha	Protein Coding	2
73	SCNN1B	Sodium Channel Epithelial 1 Subunit Beta	Protein Coding	2
74	SCNN1D	Sodium Channel Epithelial 1 Subunit Delta	Protein Coding	2
75	SCNN1G	Sodium Channel Epithelial 1 Subunit Gamma	Protein Coding	2
76	ANO3	Anoctamin 3	Protein Coding	2
77	SGK1	Serum/Glucocorticoid Regulated Kinase 1	Protein Coding	2
78	WNK1	WNK Lysine Deficient Protein Kinase 1	Protein Coding	2
79	WNK4	WNK Lysine Deficient Protein Kinase 4	Protein Coding	2
80	WNK3	WNK Lysine Deficient Protein Kinase 3	Protein Coding	2
81	WNK2	WNK Lysine Deficient Protein Kinase 2	Protein Coding	2
82	SRI	Sorcin	Protein Coding	2
83	TRPC1	Transient Receptor Potential Cation Channel Subfamily C Member 1	Protein Coding	2
84	TRPC3	Transient Receptor Potential Cation Channel Subfamily C Member 3	Protein Coding	2
85	TRPC4	Transient Receptor Potential Cation Channel Subfamily C Member 4	Protein Coding	2
86	TRPC5	Transient Receptor Potential Cation Channel Subfamily C Member 5	Protein Coding	2
87	TRPC6	Transient Receptor Potential Cation Channel Subfamily C Member 6	Protein Coding	2
88	TRPM2	Transient Receptor Potential Cation Channel Subfamily M Member 2	Protein Coding	2
89	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	2
90	UBB	Ubiquitin B	Protein Coding	2
91	UBC	Ubiquitin C	Protein Coding	2
92	BEST1	Bestrophin 1	Protein Coding	2
93	TRPV1	Transient Receptor Potential Cation Channel Subfamily V Member 1	Protein Coding	2
94	BSND	Barttin CLCNK Type Accessory Subunit Beta	Protein Coding	2
95	TRPM8	Transient Receptor Potential Cation Channel Subfamily M Member 8	Protein Coding	2
96	TRPM3	Transient Receptor Potential Cation Channel Subfamily M Member 3	Protein Coding	2
97	CALM1	Calmodulin 1	Protein Coding	2
98	CALM2	Calmodulin 2	Protein Coding	2
99	TTYH3	Tweety Family Member 3	Protein Coding	2
100	CALM3	Calmodulin 3	Protein Coding	2
101	CASQ1	Calsequestrin 1	Protein Coding	2
102	CASQ2	Calsequestrin 2	Protein Coding	2
103	RIPK1	Receptor Interacting Serine/Threonine Kinase 1	Protein Coding	2
104	TRPA1	Transient Receptor Potential Cation Channel Subfamily A Member 1	Protein Coding	2
105	ASIC3	Acid Sensing Ion Channel Subunit 3	Protein Coding	2
106	TTYH2	Tweety Family Member 2	Protein Coding	2
107	CLCA2	Chloride Channel Accessory 2	Protein Coding	2
108	ATP9A	ATPase Phospholipid Transporting 9A	Protein Coding	1
109	TCIRG1	T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3	Protein Coding	1
110	ATP8A1	ATPase Phospholipid Transporting 8A1	Protein Coding	1
111	ATP6V1G3	ATPase H+ Transporting V1 Subunit G3	Protein Coding	1
112	ATP8B3	ATPase Phospholipid Transporting 8B3	Protein Coding	1
113	ATP6V0E2	ATPase H+ Transporting V0 Subunit E2	Protein Coding	1
114	ATP10B	ATPase Phospholipid Transporting 10B (Putative)	Protein Coding	1
115	ATP11B	ATPase Phospholipid Transporting 11B (Putative)	Protein Coding	1
116	ATP11A	ATPase Phospholipid Transporting 11A	Protein Coding	1
117	ATP13A2	ATPase Cation Transporting 13A2	Protein Coding	1
118	ATP6V0A2	ATPase H+ Transporting V0 Subunit A2	Protein Coding	1
119	ATP6V0D2	ATPase H+ Transporting V0 Subunit D2	Protein Coding	1
120	ATP6V1C2	ATPase H+ Transporting V1 Subunit C2	Protein Coding	1
121	ATP2C1	ATPase Secretory Pathway Ca2+ Transporting 1	Protein Coding	1
122	ATP11C	ATPase Phospholipid Transporting 11C (ATP11C Blood Group)	Protein Coding	1
123	ATP13A5	ATPase 13A5	Protein Coding	1
124	ATP9B	ATPase Phospholipid Transporting 9B	Protein Coding	1
125	ATP1A1	ATPase Na+/K+ Transporting Subunit Alpha 1	Protein Coding	1
126	ATP1A2	ATPase Na+/K+ Transporting Subunit Alpha 2	Protein Coding	1
127	ATP1A3	ATPase Na+/K+ Transporting Subunit Alpha 3	Protein Coding	1
128	ATP12A	ATPase H+/K+ Transporting Non-Gastric Alpha2 Subunit	Protein Coding	1
129	ATP1A4	ATPase Na+/K+ Transporting Subunit Alpha 4	Protein Coding	1
130	ATP1B1	ATPase Na+/K+ Transporting Subunit Beta 1	Protein Coding	1
131	ATP1B2	ATPase Na+/K+ Transporting Subunit Beta 2	Protein Coding	1
132	ATP1B3	ATPase Na+/K+ Transporting Subunit Beta 3	Protein Coding	1
133	FXYD2	FXYD Domain Containing Ion Transport Regulator 2	Protein Coding	1
134	ATP2A1	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 1	Protein Coding	1
135	ATP2A2	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 2	Protein Coding	1
136	ATP2A3	ATPase Sarcoplasmic/Endoplasmic Reticulum Ca2+ Transporting 3	Protein Coding	1
137	ATP2B1	ATPase Plasma Membrane Ca2+ Transporting 1	Protein Coding	1
138	ATP2B2	ATPase Plasma Membrane Ca2+ Transporting 2	Protein Coding	1
139	ATP2B3	ATPase Plasma Membrane Ca2+ Transporting 3	Protein Coding	1
140	ATP2B4	ATPase Plasma Membrane Ca2+ Transporting 4	Protein Coding	1
141	ATP4A	ATPase H+/K+ Transporting Subunit Alpha	Protein Coding	1
142	ATP4B	ATPase H+/K+ Transporting Subunit Beta	Protein Coding	1
143	ATP6V0A4	ATPase H+ Transporting V0 Subunit A4	Protein Coding	1
144	CUTC	CutC Copper Transporter	Protein Coding	1
145	PDZD11	PDZ Domain Containing 11	Protein Coding	1
146	ATP6V1D	ATPase H+ Transporting V1 Subunit D	Protein Coding	1
147	ATP6V1H	ATPase H+ Transporting V1 Subunit H	Protein Coding	1
148	ATP8A2	ATPase Phospholipid Transporting 8A2	Protein Coding	1
149	ATP8B1	ATPase Phospholipid Transporting 8B1	Protein Coding	1
150	ATP6V1A	ATPase H+ Transporting V1 Subunit A	Protein Coding	1
151	ATP6V1B1	ATPase H+ Transporting V1 Subunit B1	Protein Coding	1
152	ATP6V1B2	ATPase H+ Transporting V1 Subunit B2	Protein Coding	1
153	ATP6V0C	ATPase H+ Transporting V0 Subunit C	Protein Coding	1
154	ATP6V1C1	ATPase H+ Transporting V1 Subunit C1	Protein Coding	1
155	ATP6V1E1	ATPase H+ Transporting V1 Subunit E1	Protein Coding	1
156	ATP6V0B	ATPase H+ Transporting V0 Subunit B	Protein Coding	1
157	ATP6V1G2	ATPase H+ Transporting V1 Subunit G2	Protein Coding	1
158	FXYD1	FXYD Domain Containing Ion Transport Regulator 1	Protein Coding	1
159	FXYD3	FXYD Domain Containing Ion Transport Regulator 3	Protein Coding	1
160	ATP6V0A1	ATPase H+ Transporting V0 Subunit A1	Protein Coding	1
161	PLN	Phospholamban	Protein Coding	1
162	ATP6AP1	ATPase H+ Transporting Accessory Protein 1	Protein Coding	1
163	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	1
164	FXYD7	FXYD Domain Containing Ion Transport Regulator 7	Protein Coding	1
165	FXYD6	FXYD Domain Containing Ion Transport Regulator 6	Protein Coding	1
166	FXYD4	FXYD Domain Containing Ion Transport Regulator 4	Protein Coding	1
167	ATP7B	ATPase Copper Transporting Beta	Protein Coding	1
168	ATP13A1	ATPase 13A1	Protein Coding	1
169	ATP10A	ATPase Phospholipid Transporting 10A (Putative)	Protein Coding	1
170	ATP8B2	ATPase Phospholipid Transporting 8B2	Protein Coding	1
171	ATP10D	ATPase Phospholipid Transporting 10D (Putative)	Protein Coding	1
172	SLN	Sarcolipin	Protein Coding	1
173	ATP8B4	ATPase Phospholipid Transporting 8B4 (Putative)	Protein Coding	1
174	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	1
175	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	1
176	CAMK2D	Calcium/Calmodulin Dependent Protein Kinase II Delta	Protein Coding	1
177	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	1
178	ATP13A4	ATPase 13A4	Protein Coding	1
179	ATP6V0E1	ATPase H+ Transporting V0 Subunit E1	Protein Coding	1
180	ATP6V1E2	ATPase H+ Transporting V1 Subunit E2	Protein Coding	1
181	ATP6V0D1	ATPase H+ Transporting V0 Subunit D1	Protein Coding	1
182	ATP6V1F	ATPase H+ Transporting V1 Subunit F	Protein Coding	1
183	ATP6V1G1	ATPase H+ Transporting V1 Subunit G1	Protein Coding	1
184	ATP2C2	ATPase Secretory Pathway Ca2+ Transporting 2	Protein Coding	1

Disorders associated with Ion channel transport SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3, CASQ2, RYR2, TRDN	10.34
2	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1, CASQ2, RYR2, TRDN	7.27
3	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1, CASQ2, RYR2, TRDN	6.60
4	Liddle syndrome 1	Enrichment	SCNN1A, SCNN1B, SCNN1G	6.32
5	Pseudohypoaldosteronism, type ib1, autosomal recessive	Enrichment	SCNN1A, SCNN1B, SCNN1G	6.32
6	Bartter syndrome type 4	Enrichment	BSND, CLCNKA, CLCNKB	6.32
7	Idiopathic bronchiectasis	Enrichment	SCNN1A, SCNN1B, SCNN1G	5.72
8	Autosomal recessive cutis laxa type ii classic type	Enrichment	ATP6V0A2, ATP6V1A, ATP6V1E1	5.61
9	Osteopetrosis	Enrichment	CLCN7, OSTM1, TCIRG1	4.62
10	Renal tubular acidosis, distal, 1	Enrichment	ATP6V0A4, ATP6V1B1, ATP6V1C2	4.32
11	Distal renal tubular acidosis	Enrichment	ATP6V0A4, ATP6V1B1, ATP6V1C2	4.32
12	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	Enrichment	NALCN, UNC80	4.21
13	Ventricular tachycardia, catecholaminergic polymorphic, 2	Enrichment	CASQ2, RYR2	4.21
14	Exercise-induced malignant hyperthermia	Enrichment	ASPH, RYR1	4.21
15	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3, TRDN	4.07
16	Long qt syndrome	Enrichment	CALM1, CALM2, CASQ2, RYR2	4.01
17	Developmental and epileptic encephalopathy 93	Enrichment	ATP6V1A, ATP7B	3.74
18	Hypomagnesemia 1, intestinal	Enrichment	TRPM6, TRPM7	3.74
19	Bartter syndrome, type 4b, neonatal, with sensorineural deafness	Enrichment	CLCNKA, CLCNKB	3.44
20	Malignant hyperthermia	Enrichment	ASPH, RYR1	3.44
21	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	Enrichment	ATP6V0A4, ATP6V1B1	3.26
22	Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	Enrichment	ATP6V1B2, ATP6V1C1	3.26
23	Osteopetrosis, autosomal recessive 6	Enrichment	CLCN7, TCIRG1	3.26
24	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	ATP2B1, RYR1, TRPV4	3.20
25	Clubfoot	Enrichment	ATP2B1, RYR1, TRPV4	3.20
26	Autosomal recessive osteopetrosis	Enrichment	CLCN7, TCIRG1	2.97
27	Bartter disease	Enrichment	BSND, CLCNKB	2.90
28	Hydrops fetalis	Enrichment	RYR1, RYR3	2.67
29	Autosomal recessive distal renal tubular acidosis	Enrichment	ATP6V0A4, ATP6V1B1	2.58
30	Myopathy	Enrichment	ANO5, CLCN1, RYR1	2.42
31	Alternating hemiplegia of childhood	Enrichment	ATP1A2, ATP1A3	2.31
32	Rasopathy	Enrichment	ATP6V1E1, CLCN1, RAF1	2.29
33	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	RYR1, RYR2	2.16
34	Macular dystrophy, vitelliform, 1	Enrichment	BEST1	2.10
35	Metatropic dysplasia	Enrichment	TRPV4	2.10
36	Osteopetrosis, autosomal dominant 2	Enrichment	CLCN7	2.10
37	Gnathodiaphyseal dysplasia	Enrichment	ANO5	2.10
38	Parastremmatic dwarfism	Enrichment	TRPV4	2.10
39	Spondylometaphyseal dysplasia, kozlowski type	Enrichment	TRPV4	2.10
40	Traboulsi syndrome	Enrichment	ASPH	2.10
41	Bartter syndrome, type 4a, neonatal, with sensorineural deafness	Enrichment	BSND	2.10
42	Noonan syndrome 5	Enrichment	RAF1	2.10
43	Neuronopathy, distal hereditary motor, autosomal dominant 8	Enrichment	TRPV4	2.10
44	Scott syndrome	Enrichment	ANO6	2.10
45	Uric acid concentration, serum, quantitative trait locus 4	Enrichment	SLC17A3	2.10
46	Bronchiectasis with or without elevated sweat chloride 2	Enrichment	SCNN1A	2.10
47	Bronchiectasis with or without elevated sweat chloride 3	Enrichment	SCNN1G	2.10
48	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.10
49	Brachyolmia type 3	Enrichment	TRPV4	2.10
50	Sodium serum level quantitative trait locus 1	Enrichment	TRPV4	2.10
51	Focal segmental glomerulosclerosis 2	Enrichment	TRPC6	2.10
52	Spondyloepiphyseal dysplasia, maroteaux type	Enrichment	TRPV4	2.10
53	Scapuloperoneal spinal muscular atrophy	Enrichment	TRPV4	2.10
54	Congenital contractures of the limbs and face, hypotonia, and developmental delay	Enrichment	NALCN	2.10
55	Miyoshi muscular dystrophy 3	Enrichment	ANO5	2.10
56	Avascular necrosis of femoral head, primary, 2	Enrichment	TRPV4	2.10
57	Spinocerebellar ataxia 41	Enrichment	TRPC3	2.10
58	Cardiac arrhythmia syndrome, with or without skeletal muscle weakness	Enrichment	TRDN	2.10
59	Pseudohypoaldosteronism, type iib	Enrichment	WNK4	2.10
60	Dystonia 24	Enrichment	ANO3	2.10
61	Neurodevelopmental disorder with seizures and brain abnormalities	Enrichment	CLCN3	2.10
62	Pseudohypoaldosteronism, type ib2, autosomal recessive	Enrichment	SCNN1B	2.10
63	Congenital myopathy 20	Enrichment	RYR3	2.10
64	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	Enrichment	TRPM3	2.10
65	Liddle syndrome 2	Enrichment	SCNN1G	2.10
66	Hypopigmentation, organomegaly, and delayed myelination and development	Enrichment	CLCN7	2.10
67	Moyamoya disease 7	Enrichment	ANO1	2.10
68	Prieto syndrome	Enrichment	WNK3	2.10
69	Spinocerebellar ataxia, autosomal recessive 10	Enrichment	ANO10	2.10
70	Raynaud-claes syndrome	Enrichment	CLCN4	2.10
71	Progressive familial heart block, type ib	Enrichment	TRPM4	2.10
72	Autosomal recessive limb-girdle muscular dystrophy type 2l	Enrichment	ANO5	2.10
73	Liddle syndrome 3	Enrichment	SCNN1A	2.10
74	Pseudohypoaldosteronism, type iic	Enrichment	WNK1	2.10
75	Erythrokeratodermia variabilis et progressiva 6	Enrichment	TRPM4	2.10
76	Bartter disease type 4a	Enrichment	BSND	2.10
77	Temporal lobe epilepsy	Enrichment	ANO4	2.10
78	Muscular dystrophy, limb-girdle, autosomal recessive 12	Enrichment	ANO5	2.10
79	Intestinal dysmotility syndrome	Enrichment	ANO1	2.10
80	Skin/hair/eye pigmentation, variation in, 10	Enrichment	TPCN2	2.10
81	Skeletal dysplasia and progressive central nervous system degeneration, lethal	Enrichment	TRPV4	2.10
82	Digital arthropathy-brachydactyly, familial	Enrichment	TRPV4	2.10
83	Epilepsy, idiopathic generalized 11	Enrichment	CLCN2	2.10
84	Leopard syndrome 2	Enrichment	RAF1	2.10
85	Olmsted syndrome 1	Enrichment	TRPV3	2.10
86	Myopathy, vacuolar, with casq1 aggregates	Enrichment	CASQ1	2.10
87	Long qt syndrome 16	Enrichment	CALM3	2.10
88	Hyperparathyroidism	Enrichment	TRPV6	2.10
89	Palmoplantar keratoderma, nonepidermolytic, focal 2	Enrichment	TRPV3	2.10
90	Periventricular nodular heterotopia 7	Enrichment	NEDD4L	2.10
91	Autoinflammation with episodic fever and lymphadenopathy	Enrichment	RIPK1	2.10
92	Ceroid lipofuscinosis, neuronal, 15	Enrichment	CLCN6	2.10
93	Trigonitis	Enrichment	RAF1	2.10
94	Neurodevelopmental disorder with hypotonia and brain abnormalities	Enrichment	CLCN3	2.10
95	Hyperparathyroidism, transient neonatal	Enrichment	TRPV6	2.10
96	Congenital myopathy with myasthenic-like onset	Enrichment	RYR1	2.10
97	Pseudohypoaldosteronism, type ib3, autosomal recessive	Enrichment	SCNN1G	2.10
98	Long qt syndrome 15	Enrichment	CALM2	2.10
99	Myopathy due to calsequestrin and serca1 protein overload	Enrichment	CASQ1	2.10
100	Cataract 50 with or without glaucoma	Enrichment	TRPM3	2.10
101	Mrcs syndrome	Enrichment	BEST1	2.10
102	Catecholaminergic polymorphic ventricular tachycardia 5	Enrichment	TRDN	2.10
103	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	Enrichment	CLIC2	2.10
104	Motor stereotypies	Enrichment	WNK3	2.10
105	Asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome	Enrichment	ANO5	2.10
106	Hypotonia, infantile, with psychomotor retardation and characteristic facies	Enrichment	UNC80	2.10
107	Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy	Enrichment	RYR1	2.10
108	Cramp-fasciculation syndrome	Enrichment	TRPA1	2.10
109	Trpv4-related bone disorder	Enrichment	TRPV4	2.10
110	Benign samaritan congenital myopathy	Enrichment	RYR1	2.10
111	Beckwith-wiedemann syndrome	Enrichment	RYR1, TRPV4	2.06
112	Neuromuscular disease	Enrichment	RYR1, TRPV4	2.06
113	Cardiac conduction defect	Enrichment	PLN, RYR2	1.96
114	Cutis laxa	Enrichment	ATP6V0A2, ATP6V1E1	1.96
115	Dystonia	Enrichment	ANO3, ATP1A3, CAMK2B	1.93
116	Deafness, congenital, with onychodystrophy, autosomal dominant	Enrichment	ATP6V1B2	1.87
117	Wolff syndrome	Enrichment	ATP7B	1.87
118	Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss	Enrichment	ATP1A3	1.87
119	Neuronopathy, distal hereditary motor, x-linked	Enrichment	ATP7A	1.87
120	Hailey-hailey disease	Enrichment	ATP2C1	1.87
121	Cutis laxa, autosomal recessive, type iid	Enrichment	ATP6V1A	1.87
122	Alternating hemiplegia of childhood 2	Enrichment	ATP1A3	1.87
123	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	Enrichment	ATP1A2	1.87
124	Spastic paraplegia 78, autosomal recessive	Enrichment	ATP13A2	1.87
125	Intellectual developmental disorder, autosomal dominant 66	Enrichment	ATP2B1	1.87
126	Neurodevelopmental disorder with poor growth and behavioral abnormalities	Enrichment	ATP9A	1.87
127	Developmental and epileptic encephalopathy 99	Enrichment	ATP1A3	1.87
128	Hemolytic anemia, congenital, x-linked	Enrichment	ATP11C	1.87
129	Deafness, autosomal dominant 82	Enrichment	ATP2B2	1.87
130	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	1.87
131	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	1.87
132	Deafness, autosomal dominant 33	Enrichment	ATP11A	1.87
133	Occipital horn syndrome	Enrichment	ATP7A	1.87
134	Leukodystrophy, hypomyelinating, 24	Enrichment	ATP11A	1.87
135	Kufor-rakeb syndrome	Enrichment	ATP13A2	1.87
136	Zimmermann-laband syndrome 2	Enrichment	ATP6V1B2	1.87
137	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4	Enrichment	ATP8A2	1.87
138	Developmental and epileptic encephalopathy 98	Enrichment	ATP1A2	1.87
139	Cutis laxa, autosomal recessive, type iic	Enrichment	ATP6V1E1	1.87
140	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	1.87
141	Intellectual disability, wolff type	Enrichment	ATP7B	1.87
142	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	1.87
143	Developmental and epileptic encephalopathy 104	Enrichment	ATP6V0A1	1.87
144	Neurodevelopmental disorder with epilepsy and brain atrophy	Enrichment	ATP6V0A1	1.87
145	Auditory neuropathy, autosomal dominant 2	Enrichment	ATP11A	1.87
146	Atp1a3-related disorder	Enrichment	ATP1A3	1.87
147	Epilepsy, early-onset, 3, with or without developmental delay	Enrichment	ATP6V0C	1.87
148	Rhabdomyolysis 2	Enrichment	ATP2A2	1.87
149	Oculogyric crisis	Enrichment	ATP1A3	1.87
150	Hemiplegia	Enrichment	ATP1A3	1.87
151	Autosomal dominant deafness - onychodystrophy syndrome	Enrichment	ATP6V1B2	1.87
152	Familial gastric type 1 neuroendocrine tumor	Enrichment	ATP4A	1.87
153	Parkinsonism due to atp13a2 deficiency	Enrichment	ATP13A2	1.87
154	Fetal akinesia deformation sequence 1	Enrichment	ATP2B3, NALCN, RYR1	1.87
155	Periventricular nodular heterotopia	Enrichment	ATP2B1, NEDD4L	1.83
156	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	PLN, RYR2	1.83
157	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	Enrichment	TRPM7	1.80
158	Malignant hyperthermia 1	Enrichment	RYR1	1.80
159	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Enrichment	RYR2	1.80
160	Arthrogryposis, distal, type 2a	Enrichment	NALCN	1.80
161	Vitreoretinochoroidopathy	Enrichment	BEST1	1.80
162	Batten-turner congenital myopathy	Enrichment	CLCN1	1.80
163	Fructose intolerance, hereditary	Enrichment	ANO5	1.80
164	Hyperparathyroidism, neonatal severe	Enrichment	TRPV6	1.80
165	Chanarin-dorfman syndrome	Enrichment	ANO10	1.80
166	Dent disease 1	Enrichment	CLCN5	1.80
167	Polymyoclonus, infantile	Enrichment	SCNN1B	1.80
168	Bartter syndrome, type 3	Enrichment	CLCNKB	1.80
169	Hyperaldosteronism, familial, type ii	Enrichment	CLCN2	1.80
170	Osteopetrosis, autosomal recessive 4	Enrichment	CLCN7	1.80
171	Nephrolithiasis, x-linked recessive, with renal failure	Enrichment	CLCN5	1.80
172	Hereditary motor and sensory neuropathy, type iic	Enrichment	TRPV4	1.80
173	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	1.80
174	Birk-barel syndrome	Enrichment	TRPM3	1.80
175	Retinitis pigmentosa 50	Enrichment	BEST1	1.80
176	Retinal dystrophy and iris coloboma with or without cataract	Enrichment	TRPM3	1.80
177	Mucolipidosis iv	Enrichment	MCOLN1	1.80
178	Osteopetrosis, autosomal recessive 5	Enrichment	OSTM1	1.80
179	Palmoplantar keratoderma, nonepidermolytic, focal 1	Enrichment	TRPV3	1.80
180	Long qt syndrome 14	Enrichment	CALM1	1.80
181	Leukoencephalopathy with ataxia	Enrichment	CLCN2	1.80
182	Hypophosphatemic rickets, x-linked recessive	Enrichment	CLCN5	1.80
183	Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	Enrichment	CLCN5	1.80
184	Corneal dystrophy, lisch epithelial	Enrichment	MCOLN1	1.80
185	King-denborough syndrome	Enrichment	RYR1	1.80
186	Neurogenic bladder	Enrichment	CLCN6	1.80
187	Respiratory system disease	Enrichment	CLCN6	1.80
188	Familial avascular necrosis of the femoral head	Enrichment	TRPV4	1.80
189	Immunodeficiency 57 with autoinflammation	Enrichment	RIPK1	1.80
190	Clcn2-related leukoencephalopathy	Enrichment	CLCN2	1.80
191	Neurodegeneration with brain iron accumulation 9	Enrichment	BEST1	1.80
192	Osteosclerosis	Enrichment	CLCN7	1.80
193	Pseudohypoaldosteronism	Enrichment	SCNN1A	1.80
194	Mitochondrial dna depletion syndrome 20	Enrichment	ASIC2	1.80
195	Infantile osteopetrosis with neuroaxonal dysplasia	Enrichment	OSTM1	1.80
196	Sleep apnea	Enrichment	WNK3	1.80
197	Submucosal cleft palate	Enrichment	UBB	1.80
198	Cleft hard palate	Enrichment	UBB	1.80
199	Autism	Enrichment	ATP2B1, ATP6V0A1, CAMK2G, WNK3	1.78
200	Brugada syndrome	Enrichment	SCNN1A, TRPM4	1.75
201	Distal arthrogryposis	Enrichment	ATP2B3, NALCN, RYR1	1.72
202	Sudden infant death syndrome	Enrichment	CALM2, PLN	1.66
203	Laryngomalacia	Enrichment	WNK3	1.63
204	Myotonia congenita, autosomal dominant	Enrichment	CLCN1	1.63
205	Myotonia congenita, autosomal recessive	Enrichment	CLCN1	1.63
206	Uvula, bifid	Enrichment	UBB	1.63
207	Osteopetrosis, autosomal dominant 1	Enrichment	CLCNKB	1.63
208	Cleft soft palate	Enrichment	UBB	1.63
209	Wolfram syndrome 2	Enrichment	SLC9B1	1.63
210	Chromosome 5q14.3 deletion syndrome, distal	Enrichment	NEDD4L	1.63
211	Episodic pain syndrome, familial, 1	Enrichment	TRPA1	1.63
212	Lynch syndrome 5	Enrichment	RYR1	1.63
213	Dent disease	Enrichment	CLCN5	1.63
214	Bronchopulmonary dysplasia	Enrichment	RYR1	1.63
215	Mucolipidosis	Enrichment	MCOLN1	1.63
216	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	Enrichment	TRPV3	1.63
217	Periventricular leukomalacia	Enrichment	MCOLN1	1.63
218	Seizures, benign familial neonatal, 1	Enrichment	ATP1A3	1.57
219	Hypomagnesemia 2, renal	Enrichment	FXYD2	1.57
220	Acrokeratosis verruciformis	Enrichment	ATP2A2	1.57
221	Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	Enrichment	ATP6V1B1	1.57
222	Spinocerebellar ataxia, x-linked 1	Enrichment	ATP2B3	1.57
223	Brody disease	Enrichment	ATP2A1	1.57
224	Migraine, familial hemiplegic, 2	Enrichment	ATP1A2	1.57
225	Spinocerebellar ataxia, x-linked 5	Enrichment	ATP2B3	1.57
226	Alternating hemiplegia of childhood 1	Enrichment	ATP1A2	1.57
227	Cardiomyopathy, dilated, 1p	Enrichment	PLN	1.57
228	Cardiomyopathy, familial hypertrophic, 18	Enrichment	PLN	1.57
229	Wrinkly skin syndrome	Enrichment	ATP6V0A2	1.57
230	Deafness, autosomal recessive 109	Enrichment	ATP7B	1.57
231	Charcot-marie-tooth disease, axonal, type 2dd	Enrichment	ATP1A1	1.57
232	Osteopetrosis, autosomal recessive 1	Enrichment	TCIRG1	1.57
233	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome	Enrichment	ATP8A2	1.57
234	Familial hemiplegic migraine	Enrichment	ATP1A2	1.57
235	Renal tubular acidosis	Enrichment	ATP6V1B1	1.57
236	Hypomagnesemia, seizures, and impaired intellectual development 2	Enrichment	ATP1A1	1.57
237	Deafness, autosomal dominant 84	Enrichment	ATP11A	1.57
238	Dental caries	Enrichment	ATP2B3	1.57
239	Childhood-onset epilepsy syndrome	Enrichment	ATP6V0C	1.57
240	Autosomal dominant non-syndromic intellectual disability	Enrichment	CAMK2A, CAMK2B, TRPM3	1.52
241	Left ventricular noncompaction	Enrichment	RAF1, RYR2	1.51
242	Congenital myopathy 1a, autosomal dominant, with malignant hyperthermia	Enrichment	RYR1	1.51
243	Mulibrey nanism	Enrichment	TRPM3	1.51
244	Neuropathy, hereditary sensory and autonomic, type iia	Enrichment	WNK1	1.51
245	Myopathy, centronuclear, 2	Enrichment	RYR1	1.51
246	Sacral defect with anterior meningocele	Enrichment	RYR1	1.51
247	Hypophosphatemic rickets, x-linked dominant	Enrichment	CLCN5	1.51
248	Amyotrophy, monomelic	Enrichment	RYR3	1.51
249	Smith-lemli-opitz syndrome	Enrichment	CLCN1	1.51
250	Ventricular fibrillation, paroxysmal familial, 1	Enrichment	RYR2	1.51
251	Macular dystrophy, vitelliform, 3	Enrichment	BEST1	1.51
252	Bestrophinopathy, autosomal recessive	Enrichment	BEST1	1.51
253	Hyperkalemic periodic paralysis	Enrichment	CLCN1	1.51
254	Pregnancy loss, recurrent 3	Enrichment	ASIC5	1.51
255	Bone mineral density quantitative trait locus 15	Enrichment	TRPV6	1.51
256	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	Enrichment	UNC80	1.51
257	Intellectual developmental disorder, autosomal dominant 26	Enrichment	RYR1	1.51
258	Hereditary sensory and autonomic neuropathy type 2	Enrichment	WNK1	1.51
259	Congenital myopathy 1a	Enrichment	RYR1	1.51
260	Noonan syndrome with multiple lentigines	Enrichment	RAF1	1.51
261	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	Enrichment	ANO6	1.51
262	Hereditary progressive cardiac conduction defect	Enrichment	TRPM4	1.51
263	Paroxysmal familial ventricular fibrillation	Enrichment	RYR2	1.51
264	Spastic ataxia	Enrichment	ATP1A2, ATP2B3, ATP7B	1.46
265	Cerebral palsy	Enrichment	CLCN1, CLCN2	1.42
266	Macular dystrophy, vitelliform, 2	Enrichment	BEST1	1.41
267	Congenital myopathy 1b, autosomal recessive	Enrichment	RYR1	1.41
268	Gitelman syndrome	Enrichment	CLCNKB	1.41
269	Arthrogryposis, distal, type 2b1	Enrichment	NALCN	1.41
270	Night blindness, congenital stationary, type 1c	Enrichment	TRPM1	1.41
271	Autosomal recessive cerebellar ataxia	Enrichment	ANO10	1.41
272	Heart conduction disease	Enrichment	RYR2	1.41
273	Night blindness	Enrichment	TRPM1	1.41
274	Genetic motor neuron disease	Enrichment	TRPV4	1.41
275	Darier-white disease	Enrichment	ATP2A2	1.40
276	Cholestasis, intrahepatic, of pregnancy, 1	Enrichment	ATP8B1	1.40
277	Dystonia 12	Enrichment	ATP1A3	1.40
278	Zimmermann-laband syndrome 1	Enrichment	ATP6V1B2	1.40
279	Choreoacanthocytosis	Enrichment	TCIRG1	1.40
280	Cutis laxa, autosomal recessive, type iia	Enrichment	ATP6V0A2	1.40
281	Cholestasis, benign recurrent intrahepatic, 1	Enrichment	ATP8B1	1.40
282	Neutropenia, severe congenital, 1, autosomal dominant	Enrichment	TCIRG1	1.40
283	Dysosteosclerosis	Enrichment	TCIRG1	1.40
284	Wilson disease	Enrichment	ATP7B	1.40
285	Menkes disease	Enrichment	ATP7A	1.40
286	Breast-ovarian cancer, familial 5	Enrichment	ATP7B	1.40
287	Intrinsic cardiomyopathy	Enrichment	PLN	1.40
288	Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities	Enrichment	ATP2B1	1.40
289	Muscular atrophy	Enrichment	ATP2B3	1.40
290	Angelman syndrome due to imprinting defect in 15q11-q13	Enrichment	ATP10A	1.40
291	Atp6v0a2-related cutis laxa	Enrichment	ATP6V0A2	1.40
292	Undetermined early-onset epileptic encephalopathy	Enrichment	ATP1A2, ATP1A3, ATP6V1A	1.39
293	Nephrotic syndrome	Enrichment	CLCN5, TRPC6	1.35
294	Hypokalemic periodic paralysis, type 1	Enrichment	CLCN1	1.33
295	Myopathy, centronuclear, 1	Enrichment	RYR1	1.33
296	Metachromatic leukodystrophy	Enrichment	CLCN1	1.33
297	Inflammatory bowel disease 25, autosomal recessive	Enrichment	RIPK1	1.33
298	Il10-related early-onset inflammatory bowel disease	Enrichment	RIPK1	1.33
299	Intrahepatic cholestasis of pregnancy	Enrichment	ATP8B1	1.27
300	Familial or sporadic hemiplegic migraine	Enrichment	ATP1A2	1.27
301	Epilepsy, familial focal, with variable foci 1	Enrichment	CLCNKB	1.27
302	Noonan syndrome 3	Enrichment	RAF1	1.27
303	Pilomyxoid astrocytoma	Enrichment	RAF1	1.27
304	Arthrogryposis, distal, type 1a	Enrichment	NALCN	1.21
305	Melanocytic nevus syndrome, congenital	Enrichment	RAF1	1.21
306	Erythrokeratodermia variabilis et progressiva 1	Enrichment	TRPM4	1.21
307	Myopathy, tubular aggregate, 1	Enrichment	CASQ1	1.21
308	Multiple pterygium syndrome, lethal type	Enrichment	RYR1	1.21
309	Congenital muscular dystrophy	Enrichment	RYR1	1.21
310	Congenital disorder of glycosylation, type il	Enrichment	ATP6V0A2	1.18
311	Cardiac arrest	Enrichment	PLN	1.18
312	Alg9-congenital disorder of glycosylation	Enrichment	ATP6V0A2	1.18
313	Autosomal dominant severe congenital neutropenia	Enrichment	TCIRG1	1.18
314	Bronchiectasis with or without elevated sweat chloride 1	Enrichment	SCNN1B	1.16
315	Autosomal dominant macrothrombocytopenia	Enrichment	TRPM7	1.12
316	Primary bone dysplasia	Enrichment	TRPV4	1.12
317	Cholestasis, progressive familial intrahepatic, 1	Enrichment	ATP8B1	1.10
318	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	Enrichment	ATP8A2	1.10
319	Pierre robin syndrome	Enrichment	ATP2B1	1.10
320	Deafness, autosomal recessive 12	Enrichment	ATP2B2	1.10
321	Migraine with or without aura 1	Enrichment	CLCN1	1.08
322	Epilepsy, myoclonic juvenile	Enrichment	CLCN2	1.08
323	Immune deficiency disease	Enrichment	RIPK1	1.08
324	Nanophthalmos	Enrichment	BEST1	1.08
325	Osteochondrodysplasia	Enrichment	TRPV4	1.08
326	Movement disease	Enrichment	CLCN6	1.08
327	Non-syndromic x-linked intellectual disability	Enrichment	ATP6AP1, CLCN4	1.07
328	Complex neurodevelopmental disorder	Enrichment	ATP2B1, ATP6V0A1, ATP9A, CLCN3	1.05
329	Deafness, autosomal recessive	Enrichment	BSND, CLCNKA	1.05
330	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	RYR2	1.04
331	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	RYR2	1.04
332	Autosomal recessive nonsyndromic deafness	Enrichment	BSND, CLCNKA	1.04
333	Progressive familial intrahepatic cholestasis	Enrichment	ATP8B1	1.04
334	Epilepsy	Enrichment	ATP1A2, ATP1A3	0.99
335	Immunodeficiency 47	Enrichment	ATP6AP1	0.98
336	Severe congenital neutropenia	Enrichment	TCIRG1	0.98
337	Generalized epilepsy with febrile seizures plus	Enrichment	ANO4	0.98
338	Isolated macular dystrophy	Enrichment	BEST1	0.98
339	Congenital myopathy 4a, autosomal dominant	Enrichment	RYR1	0.95
340	Noonan syndrome and noonan-related syndrome	Enrichment	RAF1	0.95
341	Arrhythmogenic right ventricular dysplasia, familial, 9	Enrichment	PLN	0.94
342	Creatine phosphokinase, elevated serum	Enrichment	ANO5	0.92
343	Wolff-parkinson-white syndrome	Enrichment	CASQ2	0.92
344	Isolated elevated serum creatine phosphokinase levels	Enrichment	ANO5	0.92
345	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ATP2B2, BSND, CLCNKA	0.92
346	Pancreatitis, hereditary	Enrichment	TRPV6	0.90
347	Neurodegeneration with brain iron accumulation	Enrichment	ATP13A2	0.89
348	Polymicrogyria	Enrichment	ATP1A2	0.89
349	Nephrocalcinosis	Enrichment	ATP6V1B1	0.89
350	Nephrolithiasis	Enrichment	ATP6V1B1	0.89
351	Polycystic kidney disease	Enrichment	ANO5	0.88
352	Sensorineural hearing loss	Enrichment	ATP6V0A4, CLCNKA	0.86
353	Congenital myopathy	Enrichment	RYR1	0.85
354	Autosomal recessive limb-girdle muscular dystrophy	Enrichment	ANO5	0.85
355	Focal segmental glomerulosclerosis	Enrichment	TRPC6	0.83
356	Epicanthus	Enrichment	ATP1A3	0.82
357	Centronuclear myopathy	Enrichment	RYR1	0.81
358	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ATP11A, ATP2B2	0.80
359	Myocardial infarction	Enrichment	CLCN1	0.80
360	Skin disease	Enrichment	CLCN6	0.80
361	Familial isolated dilated cardiomyopathy	Enrichment	PLN, RAF1	0.79
362	Noonan syndrome 1	Enrichment	RAF1	0.78
363	Congenital stationary night blindness	Enrichment	TRPM1	0.78
364	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	0.76
365	Scoliosis	Enrichment	RYR1	0.76
366	Muscular dystrophy	Enrichment	ANO5	0.76
367	Congenital nervous system abnormality	Enrichment	CAMK2B, MCOLN1, NALCN	0.76
368	Nervous system disease	Enrichment	CAMK2B, MCOLN1, NALCN	0.76
369	Polydactyly, postaxial, type a1	Enrichment	ATP6V1B1	0.73
370	Strabismus	Enrichment	NALCN	0.72
371	Hydrocephalus, congenital, 1	Enrichment	ATP1A3	0.71
372	Hypertension, essential	Enrichment	ATP1B1	0.68
373	Interstitial lung disease 2	Enrichment	ATP11A	0.68
374	Stargardt disease 1	Enrichment	BEST1	0.67
375	Cystic fibrosis	Enrichment	CLCA4	0.65
376	Connective tissue disease	Enrichment	TRPV4	0.65
377	Usher syndrome	Enrichment	SLC9B1	0.64
378	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.64
379	Microcephaly	Enrichment	ATP2B3, ATP6V0A1, CAMK2B	0.63
380	Genetic steroid-resistant nephrotic syndrome	Enrichment	TRPC6	0.63
381	Eye disease	Enrichment	TRPM6	0.62
382	Developmental and epileptic encephalopathy	Enrichment	ANO4	0.60
383	Charcot-marie-tooth disease	Enrichment	TRPV4	0.56
384	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	ASPH	0.53
385	Dilated cardiomyopathy	Enrichment	PLN, RAF1	0.53
386	Hirschsprung disease 1	Enrichment	ATP7A	0.49
387	Hereditary breast ovarian cancer syndrome	Enrichment	RIPK1	0.45
388	Myeloma, multiple	Enrichment	SGK1	0.45
389	Primary ovarian insufficiency	Enrichment	RYR3	0.43
390	Hypertrophic cardiomyopathy	Enrichment	PLN	0.35
391	Colorectal cancer	Enrichment	SGK2	0.30
392	Retinitis pigmentosa	Enrichment	BEST1, TRPM6	0.30
393	Rare genetic deafness	Enrichment	ATP6V1B1	0.18
394	Hereditary retinal dystrophy	Enrichment	BEST1, TRPM1	0.17
395	Fundus dystrophy	Enrichment	BEST1, TRPM1	0.17

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

Ion channel transport

Pathway Network for Ion channel transport

Member Pathways for Ion channel transport

Pathways in the Ion channel transport SuperPath

Associated Genes for Ion channel transport

Associated Disorders for Ion channel transport

Disorders associated with Ion channel transport SuperPath

STRING Interaction Network for Ion channel transport

Sources for Ion channel transport