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KCNJ5 (potassium inwardly rectifying channel subfamily J member 5)

Gene

3762

Potassium inwardly rectifying channel subfamily J member 5

KCNJ5

CIR, GIRK4, KATP1, KIR3.4, LQT13

11q24.3

This gene encodes an integral membrane protein which belongs to one of seven subfamilies of inward-rectifier potassium channel proteins called potassium channel subfamily J. The encoded protein is a subunit of the potassium channel which is homotetrameric

Show/Hide all(9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140697732	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs199830292	G>C	Pathogenic, likely-pathogenic, likely-benign	Coding sequence variant, missense variant
rs200170681	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs386352318	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386352319	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs387906778	A>G	Pathogenic	Missense variant, coding sequence variant
rs587777437	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs587777438	T>G	Pathogenic	Coding sequence variant, missense variant
rs587777439	G>A	Pathogenic	Coding sequence variant, missense variant

Show/Hide all(274)

miRTarBase ID	miRNA	Experiments	Reference
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081548	hsa-miR-1273f	CLIP-seq
MIRT1081549	hsa-miR-128	CLIP-seq
MIRT1081550	hsa-miR-1289	CLIP-seq
MIRT1081551	hsa-miR-143	CLIP-seq
MIRT1081552	hsa-miR-1909	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081559	hsa-miR-3198	CLIP-seq
MIRT1081560	hsa-miR-3689a-3p	CLIP-seq
MIRT1081561	hsa-miR-3689c	CLIP-seq
MIRT1081562	hsa-miR-3689d	CLIP-seq
MIRT1081563	hsa-miR-4294	CLIP-seq
MIRT1081564	hsa-miR-4302	CLIP-seq
MIRT1081565	hsa-miR-4309	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081567	hsa-miR-4534	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081570	hsa-miR-4708-5p	CLIP-seq
MIRT1081571	hsa-miR-4728-5p	CLIP-seq
MIRT1081572	hsa-miR-4770	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081575	hsa-miR-541	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081578	hsa-miR-654-5p	CLIP-seq
MIRT1081579	hsa-miR-720	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT1081550	hsa-miR-1289	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT1081559	hsa-miR-3198	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT1081563	hsa-miR-4294	CLIP-seq
MIRT1081565	hsa-miR-4309	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT1081579	hsa-miR-720	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2020209	hsa-miR-129-5p	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT2020211	hsa-miR-3149	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT2020212	hsa-miR-3182	CLIP-seq
MIRT2020213	hsa-miR-3199	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT2020214	hsa-miR-4269	CLIP-seq
MIRT1081563	hsa-miR-4294	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2020215	hsa-miR-4438	CLIP-seq
MIRT2020216	hsa-miR-4659a-3p	CLIP-seq
MIRT2020217	hsa-miR-4659b-3p	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT2020218	hsa-miR-4727-5p	CLIP-seq
MIRT2020219	hsa-miR-4740-3p	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT2020221	hsa-miR-5095	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT1081579	hsa-miR-720	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1081547	hsa-miR-1193	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2252031	hsa-miR-1254	CLIP-seq
MIRT1081548	hsa-miR-1273f	CLIP-seq
MIRT1081550	hsa-miR-1289	CLIP-seq
MIRT2020209	hsa-miR-129-5p	CLIP-seq
MIRT1081551	hsa-miR-143	CLIP-seq
MIRT1081553	hsa-miR-1976	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT1081556	hsa-miR-2392	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT2252032	hsa-miR-3116	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT2020211	hsa-miR-3149	CLIP-seq
MIRT1081558	hsa-miR-3152-3p	CLIP-seq
MIRT1081559	hsa-miR-3198	CLIP-seq
MIRT2020213	hsa-miR-3199	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT2020214	hsa-miR-4269	CLIP-seq
MIRT1081563	hsa-miR-4294	CLIP-seq
MIRT1081565	hsa-miR-4309	CLIP-seq
MIRT1081566	hsa-miR-433	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2020215	hsa-miR-4438	CLIP-seq
MIRT1081567	hsa-miR-4534	CLIP-seq
MIRT1081568	hsa-miR-4662a-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081570	hsa-miR-4708-5p	CLIP-seq
MIRT2252033	hsa-miR-4715-3p	CLIP-seq
MIRT2252034	hsa-miR-4722-3p	CLIP-seq
MIRT2020218	hsa-miR-4727-5p	CLIP-seq
MIRT2252035	hsa-miR-4735-5p	CLIP-seq
MIRT2020219	hsa-miR-4740-3p	CLIP-seq
MIRT1081572	hsa-miR-4770	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT2252036	hsa-miR-4775	CLIP-seq
MIRT1081573	hsa-miR-483-5p	CLIP-seq
MIRT2020221	hsa-miR-5095	CLIP-seq
MIRT1081574	hsa-miR-5096	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT2252037	hsa-miR-590-3p	CLIP-seq
MIRT1081577	hsa-miR-640	CLIP-seq
MIRT2252038	hsa-miR-661	CLIP-seq
MIRT1081579	hsa-miR-720	CLIP-seq
MIRT2252039	hsa-miR-760	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1081569	hsa-miR-4676-5p	CLIP-seq
MIRT1081576	hsa-miR-575	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2452230	hsa-miR-1915	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2452231	hsa-miR-4726-3p	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2252031	hsa-miR-1254	CLIP-seq
MIRT2020209	hsa-miR-129-5p	CLIP-seq
MIRT2452230	hsa-miR-1915	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT2252032	hsa-miR-3116	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT2020211	hsa-miR-3149	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2252033	hsa-miR-4715-3p	CLIP-seq
MIRT2252034	hsa-miR-4722-3p	CLIP-seq
MIRT2452231	hsa-miR-4726-3p	CLIP-seq
MIRT2252035	hsa-miR-4735-5p	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT2252036	hsa-miR-4775	CLIP-seq
MIRT2555392	hsa-miR-4794	CLIP-seq
MIRT2252037	hsa-miR-590-3p	CLIP-seq
MIRT2252038	hsa-miR-661	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq
MIRT1550405	hsa-miR-122	CLIP-seq
MIRT2252031	hsa-miR-1254	CLIP-seq
MIRT2020209	hsa-miR-129-5p	CLIP-seq
MIRT2452230	hsa-miR-1915	CLIP-seq
MIRT1081554	hsa-miR-199a-3p	CLIP-seq
MIRT1081555	hsa-miR-199b-3p	CLIP-seq
MIRT2020210	hsa-miR-24	CLIP-seq
MIRT2252032	hsa-miR-3116	CLIP-seq
MIRT1081557	hsa-miR-3129-5p	CLIP-seq
MIRT1550406	hsa-miR-3135b	CLIP-seq
MIRT2020211	hsa-miR-3149	CLIP-seq
MIRT1550407	hsa-miR-3622b-5p	CLIP-seq
MIRT1550408	hsa-miR-3652	CLIP-seq
MIRT1550409	hsa-miR-4430	CLIP-seq
MIRT2252033	hsa-miR-4715-3p	CLIP-seq
MIRT2252034	hsa-miR-4722-3p	CLIP-seq
MIRT2452231	hsa-miR-4726-3p	CLIP-seq
MIRT2252035	hsa-miR-4735-5p	CLIP-seq
MIRT2020220	hsa-miR-4772-3p	CLIP-seq
MIRT2252036	hsa-miR-4775	CLIP-seq
MIRT2555392	hsa-miR-4794	CLIP-seq
MIRT2252037	hsa-miR-590-3p	CLIP-seq
MIRT2252038	hsa-miR-661	CLIP-seq
MIRT1081580	hsa-miR-936	CLIP-seq

Show/Hide all(18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005242	Function	Inward rectifier potassium channel activity	IDA	12297500, 20560207
GO:0005515	Function	Protein binding	IPI	12297500, 32296183
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006813	Process	Potassium ion transport	TAS	8834003
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	20560207
GO:0009897	Component	External side of plasma membrane	IEA
GO:0015467	Function	G-protein activated inward rectifier potassium channel activity	TAS	8834003
GO:0030315	Component	T-tubule	IEA
GO:0034765	Process	Regulation of ion transmembrane transport	IBA	21873635
GO:0086089	Function	Voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization	IMP	20560207
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	20560207
GO:0098914	Process	Membrane repolarization during atrial cardiac muscle cell action potential	IMP	20560207
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IEA
GO:0099625	Process	Ventricular cardiac muscle cell membrane repolarization	IC	20560207
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IC	20560207
GO:1990573	Process	Potassium ion import across plasma membrane	IBA	21873635
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	12297500, 20560207

MIM	HGNC	e!Ensembl
600734	6266	ENSG00000120457

Protein

UniProt ID

P48544

Protein name

G protein-activated inward rectifier potassium channel 4 (GIRK-4) (Cardiac inward rectifier) (CIR) (Heart KATP channel) (Inward rectifier K(+) channel Kir3.4) (IRK-4) (KATP-1) (Potassium channel, inwardly rectifying subfamily J member 5)

Protein function

Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potass

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01007	IRK	54 → 193	Inward rectifier potassium channel transmembrane domain	Domain
PF17655	IRK_C	200 → 372	Inward rectifier potassium channel C-terminal domain	Domain

Sequence

MAGDSRNAMNQDMEIGVTPWDPKKIPKQARDYVPIATDRTRLLAEGKKPRQRYMEKSGKC
NVHHGNVQETYRYLSDLFTTLVDLKWRFNLLVFTMVYTVTWLFFGFIWWLIAYIRGDLDH
VGDQEWIPCVENLSGFVSAFLFSIETETTIGYGFRVITEKCPEGIILLLVQAILGSIVNA
FMVGCMFVKISQPKKRAETLMFSNNAVISMRDEKLCLMFRVGDLRNSHIVEASIRAKLIK
SRQTKEGEFIPLNQTDINVGFDTGDDRLFLVSPLIISHEINQKSPFWEMSQAQLHQEEFE
VVVILEGMVEATGMTCQARSSYMDTEVLWGHRFTPVLTLEKGFYEVDYNTFHDTYETNTP
SCCAKELAEMKREGRLLQYLPSPPLLGGCAEAGLDAEAEQNEEDEPKGLGGSREARGSV

Sequence length

419

Interactions

View interactions

	KEGG		Reactome
	Circadian entrainment Retrograde endocannabinoid signaling Serotonergic synapse Dopaminergic synapse Estrogen signaling pathway Oxytocin signaling pathway Aldosterone synthesis and secretion GnRH secretion Morphine addiction		Activation of G protein gated Potassium channels Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Associated diseases

Show/Hide Causal Diseases (12)

Causal
Disease name	Disease term	dbSNP ID	References
Hyperaldosteronism	NON RARE IN EUROPE: Aldosterone-producing adenoma, Hyperaldosteronism, HYPERALDOSTERONISM, FAMILIAL, TYPE III, Familial hyperaldosteronism type III	rs28934586, rs104894068, rs387906778, rs386352319, rs587777437, rs587777438, rs587777439, rs786205050, rs771507094, rs1085307938, rs1553853557, rs1553856214, rs1293789661, rs1553857113, rs758379595	22203740, 27099398, 22848660, 22275527, 21311022, 22315453, 22308486, 16301704, 22628607, 19716085, 24037882, 24817817
Adrenocortical adenoma	Adrenal Cortical Adenoma	rs121913035
Andersen tawil syndrome	Andersen-Tawil syndrome	rs104894575, rs104894578, rs104894579, rs2144376746, rs104894580, rs104894581, rs104894582, rs104894583, rs104894585, rs199473650, rs199473387, rs387906778, rs199473368, rs199473371, rs199473373, rs199473653, rs199473378, rs199473382, rs199473384, rs199473389, rs786205820, rs864622292, rs1555603968, rs1598211614
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	29892015, 30061737, 28416818
Atrioventricular block	Atrioventricular Block	rs766840243, rs763809932
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	rs104894069, rs1365173817, rs104894070, rs556794126, rs104894138, rs104894139, rs104894149, rs104894142, rs104894153, rs6471, rs7769409, rs9378251, rs201552310, rs397509367, rs6445, rs387906510, rs1474566961, rs7755898, rs72552754, rs151344503, rs151344504, rs1582299448, rs1582302625, rs72552757, rs80358217, rs80358220, rs80358221, rs121912974, rs28931607, rs72552772, rs72552771, rs28931608, rs786205875, rs121912976, rs1554299737, rs193922538, rs193922539, rs193922541, rs387907572, rs267606756, rs786204728, rs886038207, rs753774484, rs1554304513, rs1554305880, rs1429901248, rs767128094, rs367634557, rs936203749, rs1563435458, rs754609778, rs1563867837, rs776989258, rs1582298980, rs1582309414, rs1582300748, rs781805159, rs782336856, rs373613946, rs770199817, rs1582304457, rs1582304536, rs1582305275, rs182942340, rs1582307951, rs1367112998, rs1582312633, rs779791105, rs72552758, rs1447069098
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Heart block	Heart Block	rs267607142, rs172151858, rs1135401735	26831068
Hypertension	Hypertensive disease	rs13306026, rs13333226
Left ventricular hypertrophy	Left Ventricular Hypertrophy	rs397516037
Long qt syndrome	LONG QT SYNDROME 13	rs121434386, rs120074177, rs104894252, rs120074181, rs120074182, rs120074178, rs120074179, rs120074180, rs12720459, rs120074183, rs120074184, rs120074185, rs120074186, rs17215500, rs120074188, rs387906290, rs1800171, rs120074189, rs120074190, rs120074191, rs120074193, rs120074194, rs120074196, rs116840805, rs116840789, rs116840778, rs1008642, rs104893713, rs104893715, rs121909281, rs28937316, rs28937317, rs137854613, rs137854614, rs137854600, rs137854601, rs397514449, rs137854618, rs121918602, rs281865421, rs28933384, rs121912504, rs121912505, rs28928904, rs121912506, rs1554426258, rs121912507, rs121912508, rs9333649, rs28928905, rs121912509, rs121912510, rs121912511, rs121912512, rs1554424772, rs121912516, rs28933093, rs79891110, rs80315385, rs199472944, rs199472942, rs199476324, rs116840787, rs193922365, rs151344631, rs45546039, rs397507556, rs199472758, rs199472759, rs397508068, rs397508069, rs199472760, rs199472762, rs199472763, rs397508070, rs397508071, rs199473471, rs199472765, rs397508072, rs397508075, rs12720458, rs199473411, rs199473410, rs199473663, rs199472767, rs397508077, rs397508078, rs199472771, rs397508082, rs397508083, rs397508085, rs397508087, rs397508090, rs397508091, rs397508093, rs397508096, rs199473479, rs199472790, rs397508097, rs138551008, rs199472795, rs199473480, rs199472800, rs199472804, rs199472805, rs199472807, rs199472806, rs397508099, rs199473483, rs199472814, rs199472815, rs397508103, rs397508104, rs199472678, rs199473448, rs199472679, rs397508110, rs397508111, rs397508112, rs397508113, rs179489, rs397508114, rs199472693, rs139042529, rs199472696, rs199472697, rs397508115, rs199473394, rs199473397, rs397508116, rs397508117, rs199473662, rs397508118, rs397508120, rs199472702, rs199473456, rs199472708, rs199473457, rs199472709, rs199472710, rs199472712, rs199472713, rs199472716, rs199472719, rs199472720, rs199472722, rs199472721, rs397508125, rs199473460, rs199472726, rs199472727, rs397508126, rs397508127, rs199472730, rs199473462, rs397508129, rs199473466, rs397508130, rs199472743, rs199472745, rs199472748, rs74462309, rs104894255, rs199472749, rs199472751, rs199473470, rs199472754, rs199472755, rs199472756, rs397508134, rs199472794, rs199472801, rs199472687, rs199473661, rs199473398, rs199472701, rs199472823, rs199472705, rs199472706, rs199473459, rs199472718, rs199472734, rs199472740, rs199472750, rs199472753, rs199472895, rs199472836, rs199472911, rs199472912, rs199472916, rs199472918, rs199472919, rs199472845, rs199472921, rs199472922, rs199472926, rs199473423, rs199473413, rs199473426, rs199473428, rs199472934, rs199472936, rs199473522, rs199472939, rs199472941, rs199473524, rs199472945, rs199472946, rs199472947, rs199472948, rs199472950, rs199472953, rs199472954, rs199473039, rs199472957, rs41307295, rs199472961, rs199472968, rs199472970, rs199472971, rs199472979, rs199473665, rs199473419, rs199473420, rs199473421, rs199472986, rs199472990, rs199472995, rs199472999, rs199473538, rs199473005, rs199473004, rs199473018, rs199472859, rs199472862, rs199472830, rs199472884, rs199473108, rs72549410, rs199473584, rs199473225, rs199473623, rs199473631, rs199473311, rs199473072, rs386352319, rs398124647, rs398124648, rs398124650, rs398124649, rs199473354, rs587777437, rs587782933, rs189014161, rs730880374, rs730880116, rs730880043, rs730882252, rs199744595, rs730882253, rs730882254, rs786204101, rs786204395, rs786204839, rs786205745, rs786205748, rs786205753, rs794728721, rs794728740, rs794728783, rs749697698, rs397514251, rs1553694247, rs794728849, rs794728473, rs794728470, rs794728466, rs794728469, rs794728468, rs794728467, rs794728403, rs794728504, rs794728401, rs794728464, rs748706373, rs794728459, rs794728462, rs794728503, rs794728458, rs794728399, rs794728456, rs794728455, rs794728502, rs794728449, rs794728446, rs1554425149, rs794728391, rs794728382, rs794728381, rs1137617, rs794728488, rs794728380, rs794728487, rs794728442, rs794728377, rs794728483, rs794728440, rs794728481, rs794728438, rs201268831, rs794728498, rs794728366, rs794728478, rs794728365, rs770047651, rs794728364, rs794728431, rs794728429, rs794728427, rs794728422, rs794728425, rs794728496, rs794728423, rs794728420, rs761863251, rs794728489, rs754921704, rs794728508, rs794728409, rs794728506, rs794728475, rs794728406, rs794728416, rs794728563, rs1554958092, rs397508109, rs794728549, rs794728565, rs794728566, rs762814879, rs794728547, rs794728580, rs794728569, rs775479779, rs794728517, rs794728581, rs794728523, rs794728571, rs794728527, rs775537394, rs794728558, rs794728561, rs794728531, rs794728535, rs794728562, rs794728576, rs794728537, rs794728540, rs779760381, rs796052171, rs755287627, rs796052197, rs796052198, rs796052196, rs796052199, rs796052200, rs796052166, rs878854347, rs794728568, rs878854349, rs878854350, rs878854348, rs863224478, rs863225288, rs864622309, rs864622174, rs773724817, rs199473441, rs199472951, rs869025448, rs869025447, rs878853771, rs199473412, rs763462603, rs886037906, rs886039183, rs886039045, rs530612385, rs886039385, rs750349088, rs199472893, rs773204795, rs1057518151, rs1057517743, rs1057517742, rs1057517711, rs1057520558, rs1057520598, rs1057520623, rs746877365, rs1060500662, rs1060500661, rs1060500670, rs1554425527, rs1060500621, rs199956744, rs1060500628, rs765169367, rs1060500626, rs1060500627, rs1060500623, rs1060500629, rs397508105, rs786205771, rs1060502608, rs1060502607, rs756159737, rs1554424044, rs1064793434, rs1064794793, rs1064793832, rs794728477, rs199472844, rs1554958132, rs1064795333, rs1064793159, rs1085307620, rs1554425498, rs1554425569, rs1131691762, rs1131692183, rs1131692327, rs199473442, rs1135401944, rs886039043, rs1555843898, rs199473310, rs1554423863, rs1554920580, rs1435990592, rs1554892994, rs1554894448, rs1554424079, rs1554426219, rs1554427317, rs1554428173, rs1554424062, rs1554425320, rs1554425486, rs1554424083, rs1554425226, rs1554425284, rs1554893228, rs1555814427, rs1553431702, rs1554424688, rs1553698563, rs1554424063, rs1554430908, rs1554423871, rs1554424070, rs1554424091, rs1554424390, rs1554424620, rs1385959174, rs1554424849, rs1554426244, rs1554427596, rs1554430850, rs1554893091, rs199472833, rs1554894445, rs1554424138, rs1554427931, rs1554958043, rs1554428170, rs1554427943, rs1554431441, rs1554424671, rs199473517, rs1554895166, rs1555843953, rs758346045, rs1244688796, rs779124360, rs1564821090, rs1563152963, rs1563156868, rs1325525794, rs199472924, rs1563193513, rs1558693760, rs761585108, rs1563156461, rs1564067737, rs199473430, rs1563161565, rs1563169296, rs1564820729, rs397508133, rs199472770, rs1564886323, rs1564820372, rs1564820786, rs1564824264, rs1564886349, rs1563148264, rs749211387, rs1563160541, rs1564825414, rs1568835906, rs1563161538, rs750835733, rs1568469857, rs1569139160, rs199473259, rs1584843033, rs1590081467, rs1584885912, rs1573214371, rs1584841841, rs1584842021, rs1584845263, rs1584846819, rs1584850710, rs1584856544, rs1584883087, rs1584883377, rs1584883517, rs1589884185, rs1589957719, rs1589957756, rs1589957233, rs1584852351, rs1590081328, rs794728578, rs1589931156, rs1584843078, rs1584847173, rs1584855956, rs552508881, rs1584852174, rs1589968661, rs1599759554, rs1599759598, rs1573214163, rs1584863723, rs1589957697, rs1800946921, rs1800958758, rs1801008727, rs1801183828, rs1801406108, rs1801444435, rs1801462423, rs1801935667, rs1848344878, rs1848346228, rs1848360153, rs1554894743, rs1848613641, rs199472974, rs1801941580, rs775362401, rs1846542419, rs1848316236, rs1848322089, rs767921776	16301704, 20560207, 19716085
Sick sinus syndrome	Sick Sinus Syndrome	rs104894488, rs1057519015, rs121908411, rs869025519, rs1057519274, rs794727637, rs1057519275, rs1057519276	26831068

Show/Hide Unknown Diseases (12)

Unknown
Disease name	Disease term	dbSNP ID	References
Adenoma	Adenoma, Adenoma, Basal Cell, Follicular adenoma, Adenoma, Microcystic, Adenoma, Monomorphic, Adenoma, Trabecular		23913004, 23913001, 23913001, 23913004
Adrenal hyperplasia	Adrenal hyperplasia
Andersen syndrome	Andersen Syndrome		24574546
Congestive heart failure	Congestive heart failure	rs2301610, rs3833910, rs12301951, rs201674674, rs186741807, rs150140412, rs786205727, rs757840030, rs552050895, rs759465783, rs201978086, rs572757800, rs1572143354, rs749160569
Coronary arteriosclerosis	Coronary Arteriosclerosis
Glucocortocoid-insensitive hyperaldosteronism	Glucocortocoid-insensitive primary hyperaldosteronism
Metabolic alkalosis	Metabolic alkalosis
Papillary adenoma	Papillary adenoma		23913004, 23913001
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	rs199865688, rs397515994, rs757096307	29892015, 30061737
Romano-ward syndrome	Romano-Ward Syndrome		24093767
Sinus node dysfunction	Sinus Node Dysfunction (disorder)		26831068
Torsades de pointes	Torsades de Pointes	rs36210421, rs36210419, rs36210415, rs36210416, rs36210420

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