KCNJ8 (potassium inwardly rectifying channel subfamily J member 8)

Gene

• Entrez ID: 3764
• Gene name: Potassium inwardly rectifying channel subfamily J member 8
• Gene symbol: KCNJ8
• Synonyms (NCBI Gene): KIR6.1, uKATP-1
• Chromosome: 12
• Chromosome location: 12p12.1
• Summary: Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, whi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT536557	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT536556	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT536555	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT536554	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT536553	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT536552	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT536551	hsa-miR-302e	PAR-CLIP	22012620
MIRT536550	hsa-miR-520b	PAR-CLIP	22012620
MIRT536549	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT536548	hsa-miR-520e	PAR-CLIP	22012620
MIRT536547	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT536546	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT536545	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT536544	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT536543	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT536542	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT536541	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT536540	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT536539	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT536538	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT536537	hsa-miR-5003-3p	PAR-CLIP	22012620
MIRT536536	hsa-miR-512-3p	PAR-CLIP	22012620
MIRT536535	hsa-miR-556-3p	PAR-CLIP	22012620
MIRT536557	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT536556	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT536555	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT536554	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT536553	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT536552	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT536551	hsa-miR-302e	PAR-CLIP	22012620
MIRT536550	hsa-miR-520b	PAR-CLIP	22012620
MIRT536549	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT536548	hsa-miR-520e	PAR-CLIP	22012620
MIRT536547	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT536546	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT536545	hsa-miR-106a-5p	PAR-CLIP	22012620
MIRT536544	hsa-miR-106b-5p	PAR-CLIP	22012620
MIRT536543	hsa-miR-17-5p	PAR-CLIP	22012620
MIRT536542	hsa-miR-20a-5p	PAR-CLIP	22012620
MIRT536541	hsa-miR-20b-5p	PAR-CLIP	22012620
MIRT536540	hsa-miR-519d-3p	PAR-CLIP	22012620
MIRT536539	hsa-miR-526b-3p	PAR-CLIP	22012620
MIRT536538	hsa-miR-93-5p	PAR-CLIP	22012620
MIRT536537	hsa-miR-5003-3p	PAR-CLIP	22012620
MIRT536536	hsa-miR-512-3p	PAR-CLIP	22012620
MIRT536535	hsa-miR-556-3p	PAR-CLIP	22012620
MIRT1081594	hsa-miR-106a	CLIP-seq
MIRT1081595	hsa-miR-106b	CLIP-seq
MIRT1081596	hsa-miR-1197	CLIP-seq
MIRT1081597	hsa-miR-1208	CLIP-seq
MIRT1081598	hsa-miR-1252	CLIP-seq
MIRT1081599	hsa-miR-1273e	CLIP-seq
MIRT1081600	hsa-miR-134	CLIP-seq
MIRT1081601	hsa-miR-17	CLIP-seq
MIRT1081602	hsa-miR-1910	CLIP-seq
MIRT1081603	hsa-miR-20a	CLIP-seq
MIRT1081604	hsa-miR-20b	CLIP-seq
MIRT1081605	hsa-miR-2110	CLIP-seq
MIRT1081606	hsa-miR-2681	CLIP-seq
MIRT1081607	hsa-miR-302a	CLIP-seq
MIRT1081608	hsa-miR-302b	CLIP-seq
MIRT1081609	hsa-miR-302c	CLIP-seq
MIRT1081610	hsa-miR-302d	CLIP-seq
MIRT1081611	hsa-miR-3118	CLIP-seq
MIRT1081612	hsa-miR-3128	CLIP-seq
MIRT1081613	hsa-miR-3130-5p	CLIP-seq
MIRT1081614	hsa-miR-3151	CLIP-seq
MIRT1081615	hsa-miR-3152-3p	CLIP-seq
MIRT1081616	hsa-miR-3154	CLIP-seq
MIRT1081617	hsa-miR-34a	CLIP-seq
MIRT1081618	hsa-miR-34c-5p	CLIP-seq
MIRT1081619	hsa-miR-3591-5p	CLIP-seq
MIRT1081620	hsa-miR-3646	CLIP-seq
MIRT1081621	hsa-miR-3650	CLIP-seq
MIRT1081622	hsa-miR-3662	CLIP-seq
MIRT1081623	hsa-miR-3668	CLIP-seq
MIRT1081624	hsa-miR-371b-3p	CLIP-seq
MIRT1081625	hsa-miR-372	CLIP-seq
MIRT1081626	hsa-miR-373	CLIP-seq
MIRT1081627	hsa-miR-3929	CLIP-seq
MIRT1081628	hsa-miR-4267	CLIP-seq
MIRT1081629	hsa-miR-4271	CLIP-seq
MIRT1081630	hsa-miR-4280	CLIP-seq
MIRT1081631	hsa-miR-4318	CLIP-seq
MIRT1081632	hsa-miR-4419b	CLIP-seq
MIRT1081633	hsa-miR-4434	CLIP-seq
MIRT1081634	hsa-miR-4447	CLIP-seq
MIRT1081635	hsa-miR-4472	CLIP-seq
MIRT1081636	hsa-miR-4478	CLIP-seq
MIRT1081637	hsa-miR-4482	CLIP-seq
MIRT1081638	hsa-miR-449a	CLIP-seq
MIRT1081639	hsa-miR-449b	CLIP-seq
MIRT1081640	hsa-miR-4516	CLIP-seq
MIRT1081641	hsa-miR-4517	CLIP-seq
MIRT1081642	hsa-miR-4720-5p	CLIP-seq
MIRT1081643	hsa-miR-4725-3p	CLIP-seq
MIRT1081644	hsa-miR-4729	CLIP-seq
MIRT1081645	hsa-miR-4768-3p	CLIP-seq
MIRT1081646	hsa-miR-4799-3p	CLIP-seq
MIRT1081647	hsa-miR-490-5p	CLIP-seq
MIRT1081648	hsa-miR-491-5p	CLIP-seq
MIRT1081649	hsa-miR-519d	CLIP-seq
MIRT1081650	hsa-miR-622	CLIP-seq
MIRT1081651	hsa-miR-642b	CLIP-seq
MIRT1081652	hsa-miR-668	CLIP-seq
MIRT1081653	hsa-miR-93	CLIP-seq
MIRT1081654	hsa-miR-943	CLIP-seq
MIRT1081597	hsa-miR-1208	CLIP-seq
MIRT1081598	hsa-miR-1252	CLIP-seq
MIRT1081600	hsa-miR-134	CLIP-seq
MIRT1081611	hsa-miR-3118	CLIP-seq
MIRT1081614	hsa-miR-3151	CLIP-seq
MIRT1081631	hsa-miR-4318	CLIP-seq
MIRT1081634	hsa-miR-4447	CLIP-seq
MIRT1081635	hsa-miR-4472	CLIP-seq
MIRT1550410	hsa-miR-4728-3p	CLIP-seq
MIRT1081648	hsa-miR-491-5p	CLIP-seq
MIRT1081652	hsa-miR-668	CLIP-seq
MIRT1081654	hsa-miR-943	CLIP-seq
MIRT1081597	hsa-miR-1208	CLIP-seq
MIRT1081598	hsa-miR-1252	CLIP-seq
MIRT1081600	hsa-miR-134	CLIP-seq
MIRT1081611	hsa-miR-3118	CLIP-seq
MIRT1081614	hsa-miR-3151	CLIP-seq
MIRT1081631	hsa-miR-4318	CLIP-seq
MIRT1081634	hsa-miR-4447	CLIP-seq
MIRT1081635	hsa-miR-4472	CLIP-seq
MIRT1081648	hsa-miR-491-5p	CLIP-seq
MIRT1081652	hsa-miR-668	CLIP-seq
MIRT1081654	hsa-miR-943	CLIP-seq
MIRT1081597	hsa-miR-1208	CLIP-seq
MIRT1081598	hsa-miR-1252	CLIP-seq
MIRT1081600	hsa-miR-134	CLIP-seq
MIRT1081605	hsa-miR-2110	CLIP-seq
MIRT1081611	hsa-miR-3118	CLIP-seq
MIRT1081614	hsa-miR-3151	CLIP-seq
MIRT1081629	hsa-miR-4271	CLIP-seq
MIRT1081631	hsa-miR-4318	CLIP-seq
MIRT1081634	hsa-miR-4447	CLIP-seq
MIRT1081635	hsa-miR-4472	CLIP-seq
MIRT1081643	hsa-miR-4725-3p	CLIP-seq
MIRT1081648	hsa-miR-491-5p	CLIP-seq
MIRT1081652	hsa-miR-668	CLIP-seq
MIRT1081654	hsa-miR-943	CLIP-seq
MIRT1081597	hsa-miR-1208	CLIP-seq
MIRT1081598	hsa-miR-1252	CLIP-seq
MIRT1081600	hsa-miR-134	CLIP-seq
MIRT1081605	hsa-miR-2110	CLIP-seq
MIRT2252042	hsa-miR-3074-3p	CLIP-seq
MIRT1081611	hsa-miR-3118	CLIP-seq
MIRT1081614	hsa-miR-3151	CLIP-seq
MIRT2252043	hsa-miR-34c-3p	CLIP-seq
MIRT1081629	hsa-miR-4271	CLIP-seq
MIRT1081631	hsa-miR-4318	CLIP-seq
MIRT1081634	hsa-miR-4447	CLIP-seq
MIRT1081635	hsa-miR-4472	CLIP-seq
MIRT2252044	hsa-miR-4666-5p	CLIP-seq
MIRT1081643	hsa-miR-4725-3p	CLIP-seq
MIRT1550410	hsa-miR-4728-3p	CLIP-seq
MIRT1081648	hsa-miR-491-5p	CLIP-seq
MIRT2252045	hsa-miR-494	CLIP-seq
MIRT1081652	hsa-miR-668	CLIP-seq
MIRT1081654	hsa-miR-943	CLIP-seq
MIRT1081597	hsa-miR-1208	CLIP-seq
MIRT1081598	hsa-miR-1252	CLIP-seq
MIRT1081600	hsa-miR-134	CLIP-seq
MIRT1081605	hsa-miR-2110	CLIP-seq
MIRT2252042	hsa-miR-3074-3p	CLIP-seq
MIRT1081611	hsa-miR-3118	CLIP-seq
MIRT1081614	hsa-miR-3151	CLIP-seq
MIRT2252043	hsa-miR-34c-3p	CLIP-seq
MIRT1081629	hsa-miR-4271	CLIP-seq
MIRT1081631	hsa-miR-4318	CLIP-seq
MIRT1081634	hsa-miR-4447	CLIP-seq
MIRT1081635	hsa-miR-4472	CLIP-seq
MIRT2252044	hsa-miR-4666-5p	CLIP-seq
MIRT1081643	hsa-miR-4725-3p	CLIP-seq
MIRT1081648	hsa-miR-491-5p	CLIP-seq
MIRT1081652	hsa-miR-668	CLIP-seq
MIRT1081654	hsa-miR-943	CLIP-seq
MIRT2555393	hsa-miR-105	CLIP-seq
MIRT1081597	hsa-miR-1208	CLIP-seq
MIRT2555394	hsa-miR-129-5p	CLIP-seq
MIRT1081602	hsa-miR-1910	CLIP-seq
MIRT2555395	hsa-miR-1913	CLIP-seq
MIRT2555396	hsa-miR-198	CLIP-seq
MIRT2555397	hsa-miR-205	CLIP-seq
MIRT1081605	hsa-miR-2110	CLIP-seq
MIRT1081606	hsa-miR-2681	CLIP-seq
MIRT2555398	hsa-miR-3124-3p	CLIP-seq
MIRT1081613	hsa-miR-3130-5p	CLIP-seq
MIRT1081614	hsa-miR-3151	CLIP-seq
MIRT2555399	hsa-miR-3152-5p	CLIP-seq
MIRT2555400	hsa-miR-3155	CLIP-seq
MIRT2555401	hsa-miR-3155b	CLIP-seq
MIRT2555402	hsa-miR-3194-3p	CLIP-seq
MIRT2555403	hsa-miR-324-3p	CLIP-seq
MIRT2555404	hsa-miR-3545-3p	CLIP-seq
MIRT1081620	hsa-miR-3646	CLIP-seq
MIRT2555405	hsa-miR-3679-3p	CLIP-seq
MIRT2555406	hsa-miR-3685	CLIP-seq
MIRT1081627	hsa-miR-3929	CLIP-seq
MIRT1081628	hsa-miR-4267	CLIP-seq
MIRT1081629	hsa-miR-4271	CLIP-seq
MIRT1081631	hsa-miR-4318	CLIP-seq
MIRT2555407	hsa-miR-4328	CLIP-seq
MIRT1081632	hsa-miR-4419b	CLIP-seq
MIRT1081633	hsa-miR-4434	CLIP-seq
MIRT2555408	hsa-miR-4436b-5p	CLIP-seq
MIRT2555409	hsa-miR-4446-5p	CLIP-seq
MIRT1081634	hsa-miR-4447	CLIP-seq
MIRT1081635	hsa-miR-4472	CLIP-seq
MIRT1081636	hsa-miR-4478	CLIP-seq
MIRT1081637	hsa-miR-4482	CLIP-seq
MIRT2555410	hsa-miR-4503	CLIP-seq
MIRT1081640	hsa-miR-4516	CLIP-seq
MIRT1081643	hsa-miR-4725-3p	CLIP-seq
MIRT1081645	hsa-miR-4768-3p	CLIP-seq
MIRT2555411	hsa-miR-4774-3p	CLIP-seq
MIRT2555412	hsa-miR-484	CLIP-seq
MIRT1081647	hsa-miR-490-5p	CLIP-seq
MIRT1081648	hsa-miR-491-5p	CLIP-seq
MIRT2555413	hsa-miR-516a-3p	CLIP-seq
MIRT2555414	hsa-miR-520d-5p	CLIP-seq
MIRT2555415	hsa-miR-524-5p	CLIP-seq
MIRT1081652	hsa-miR-668	CLIP-seq
MIRT2555393	hsa-miR-105	CLIP-seq
MIRT1081597	hsa-miR-1208	CLIP-seq
MIRT2683233	hsa-miR-1273f	CLIP-seq
MIRT2555394	hsa-miR-129-5p	CLIP-seq
MIRT2683234	hsa-miR-143	CLIP-seq
MIRT1081602	hsa-miR-1910	CLIP-seq
MIRT2555395	hsa-miR-1913	CLIP-seq
MIRT2555396	hsa-miR-198	CLIP-seq
MIRT2555397	hsa-miR-205	CLIP-seq
MIRT1081605	hsa-miR-2110	CLIP-seq
MIRT1081606	hsa-miR-2681	CLIP-seq
MIRT2555398	hsa-miR-3124-3p	CLIP-seq
MIRT1081613	hsa-miR-3130-5p	CLIP-seq
MIRT1081614	hsa-miR-3151	CLIP-seq
MIRT2555399	hsa-miR-3152-5p	CLIP-seq
MIRT2555400	hsa-miR-3155	CLIP-seq
MIRT2555401	hsa-miR-3155b	CLIP-seq
MIRT2683235	hsa-miR-3171	CLIP-seq
MIRT2555402	hsa-miR-3194-3p	CLIP-seq
MIRT2555403	hsa-miR-324-3p	CLIP-seq
MIRT2555404	hsa-miR-3545-3p	CLIP-seq
MIRT2683236	hsa-miR-3619-3p	CLIP-seq
MIRT1081620	hsa-miR-3646	CLIP-seq
MIRT2555406	hsa-miR-3685	CLIP-seq
MIRT1081627	hsa-miR-3929	CLIP-seq
MIRT1081628	hsa-miR-4267	CLIP-seq
MIRT1081629	hsa-miR-4271	CLIP-seq
MIRT1081631	hsa-miR-4318	CLIP-seq
MIRT2555407	hsa-miR-4328	CLIP-seq
MIRT1081632	hsa-miR-4419b	CLIP-seq
MIRT1081633	hsa-miR-4434	CLIP-seq
MIRT2555408	hsa-miR-4436b-5p	CLIP-seq
MIRT1081634	hsa-miR-4447	CLIP-seq
MIRT1081635	hsa-miR-4472	CLIP-seq
MIRT1081636	hsa-miR-4478	CLIP-seq
MIRT1081637	hsa-miR-4482	CLIP-seq
MIRT2555410	hsa-miR-4503	CLIP-seq
MIRT1081640	hsa-miR-4516	CLIP-seq
MIRT2683237	hsa-miR-4708-5p	CLIP-seq
MIRT1081643	hsa-miR-4725-3p	CLIP-seq
MIRT1081645	hsa-miR-4768-3p	CLIP-seq
MIRT2683238	hsa-miR-4770	CLIP-seq
MIRT2555411	hsa-miR-4774-3p	CLIP-seq
MIRT2683239	hsa-miR-4776-5p	CLIP-seq
MIRT2555412	hsa-miR-484	CLIP-seq
MIRT1081647	hsa-miR-490-5p	CLIP-seq
MIRT1081648	hsa-miR-491-5p	CLIP-seq
MIRT2555413	hsa-miR-516a-3p	CLIP-seq
MIRT2555414	hsa-miR-520d-5p	CLIP-seq
MIRT2555415	hsa-miR-524-5p	CLIP-seq
MIRT1081652	hsa-miR-668	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	ISS
GO:0005739	Component	Mitochondrion	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0006813	Process	Potassium ion transport	TAS	7890693
GO:0007507	Process	Heart development	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	TAS	7890693
GO:0008282	Component	Inward rectifying potassium channel	IEA
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	IBA	21873635
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	IDA	20558321
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	NAS	28842488
GO:0017098	Function	Sulfonylurea receptor binding	IEA
GO:0019829	Function	ATPase-coupled cation transmembrane transporter activity	ISS
GO:0030016	Component	Myofibril	IEA
GO:0031004	Component	Potassium ion-transporting ATPase complex	ISS
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0034765	Process	Regulation of ion transmembrane transport	IBA	21873635
GO:0042383	Component	Sarcolemma	IEA
GO:0043330	Process	Response to exogenous dsRNA	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0071805	Process	Potassium ion transmembrane transport	NAS	28842488
GO:0098662	Process	Inorganic cation transmembrane transport	ISS
GO:0098915	Process	Membrane repolarization during ventricular cardiac muscle cell action potential	IMP	20558321
GO:0150104	Process	Transport across blood-brain barrier	NAS	30280653
GO:1902282	Function	Voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	IMP	20558321
GO:1990573	Process	Potassium ion import across plasma membrane	IBA	21873635
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	20558321

Other IDs

• MIM: 600935
• HGNC: 6269
• e!Ensembl: ENSG00000121361

Protein

• UniProt ID: Q15842
• Protein name: ATP-sensitive inward rectifier potassium channel 8 (Inward rectifier K(+) channel Kir6.1) (Potassium channel, inwardly rectifying subfamily J member 8) (uKATP-1)
• 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 (PubMed:20558321, PubMed:21836131, PubMed:24700710, PubMed:28842488). Their voltage dependence is regulate
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01007	IRK	37 → 184	Inward rectifier potassium channel transmembrane domain	Domain
  PF17655	IRK_C	191 → 363	Inward rectifier potassium channel C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Predominantly detected in fetal and adult heart. {ECO:0000269|PubMed:9573340}.
• Sequence:

  MLARKSIIPEEYVLARIAAENLRKPRIRDRLPKARFIAKSGACNLAHKNIREQGRFLQDI
  FTTLVDLKWRHTLVIFTMSFLCSWLLFAIMWWLVAFAHGDIYAYMEKSGMEKSGLESTVC
  VTNVRSFTSAFLFSIEVQVTIGFGGRMMTEECPLAITVLILQNIVGLIINAVMLGCIFMK
  TAQAHRRAETLIFSRHAVIAVRNGKLCFMFRVGDLRKSMIISASVRIQVVKKTTTPEGEV
  VPIHQLDIPVDNPIESNNIFLVAPLIICHVIDKRSPLYDISATDLANQDLEVIVILEGVV
  ETTGITTQARTSYIAEEIQWGHRFVSIVTEEEGVYSVDYSKFGNTVKVAAPRCSARELDE
  KPSILIQTLQKSELSHQNSLRKRNSMRRNNSMRRNNSIRRNNSSLMVPKVQFMTPEGNQN
  TSES

• Sequence length: 424

Pathways

KEGG:

cGMP-PKG signaling pathway

Reactome:

ATP sensitive Potassium channels

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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	27283775
Atrioventricular block	First degree atrioventricular block	rs766840243, rs763809932
Brugada syndrome	Brugada Syndrome (disorder), Brugada Syndrome 1, Brugada syndrome	rs104894718, rs397514252, rs397514446, rs137854613, rs137854601, rs397514449, rs137854604, rs28937318, rs137854611, rs137854612, rs137854615, rs137854618, rs137854620, rs72554632, rs121912776, rs199473282, rs16969925, rs199473096, rs199473565, rs199473097, rs199473566, rs199473101, rs199473153, rs199473584, rs199473168, rs199473587, rs199473170, rs199473172, rs199473175, rs199473055, rs199473556, rs199473058, rs199473225, rs199473613, rs199473271, rs199473062, rs199473623, rs199473304, rs199473305, rs199473629, rs199473072, rs199473083, rs483353016, rs587777457, rs587777742, rs727505158, rs727503411, rs730880210, rs786204839, rs786205830, rs138450474, rs794727487, rs794727637, rs794728924, rs749697698, rs794728918, rs794728917, rs794728914, rs397514450, rs794728912, rs794728906, rs794728849, rs794728843, rs794728846, rs796065312, rs796065311, rs863225273, rs869025522, rs869025520, rs777689378, rs886037903, rs754221948, rs199473284, rs886039072, rs1057519275, rs1060501130, rs759924541, rs1060501136, rs1060500103, rs1064794424, rs756159737, rs1135401773, rs1553695282, rs1553605932, rs1555475434, rs1553695764, rs1553700699, rs1553705586, rs1417036453, rs1204915217, rs761505217, rs1559727990, rs1559414131, rs755356387, rs1559729142, rs587781159, rs1559738598, rs1553699766, rs1237724419, rs1060500107, rs1575719863, rs1480085793, rs1575706847, rs199473620, rs1575751854, rs1207394743, rs1369632373, rs2061229370, rs2061654524, rs1274495820, rs2064222084, rs2064208734	22056721, 22840528, 20558321, 24367007, 11984590, 19120683
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377, rs2856655, rs587776700, rs387906397, rs104894204, rs121434470, rs104894828, rs121964855, rs121964856, rs121964858, rs74315380, rs104894724, rs104894725, rs104894727, rs104894728, rs104894729, rs104894730, rs267607127, rs2147283135, rs267607128, rs267607125, rs104894502, rs104894503, rs104894504, rs28933405, rs111033560, rs121434594, rs80338797, rs104893748, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs121913633, rs121913634, rs3218714, rs121913636, rs121913637, rs121913638, rs121913639, rs121913641, rs121913642, rs121913643, rs121913647, rs121913650, rs121913651, rs36211715, rs121913654, rs267606911, rs267606908, rs730880850, rs121912675, rs267606629, rs193922680, rs1600482909, rs387906898, rs199476398, rs387907079, rs199474815, rs199474703, rs199476305, rs199476306, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922649, rs36211723, rs187830361, rs193922383, rs193922386, rs193922390, rs193922697, rs387907267, rs397507520, rs727505017, rs397515888, rs397515889, rs397515891, rs397515893, rs397515894, rs397515895, rs397515896, rs397515897, rs397515903, rs397515905, rs375882485, rs397515907, rs397515910, rs397515912, rs397515916, rs397515920, rs397515925, rs397515926, rs397515931, rs397515933, rs397515934, rs397515935, rs397515937, rs397515942, rs397515943, rs397515944, rs397515947, rs397515948, rs397515952, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515965, rs397515966, rs397515970, rs397515972, rs397515973, rs397515974, rs397515975, rs397515977, rs376395543, rs397515979, rs397515982, rs397515987, rs397515990, rs397515991, rs397515992, rs397515995, rs397515997, rs397516001, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs397516010, rs397516013, rs397516014, rs373746463, rs397516019, rs397516020, rs397516022, rs397516023, rs397516029, rs397516031, rs397516032, rs397516035, rs397516037, rs397516038, rs397516040, rs397516042, rs397516044, rs397516047, rs397516049, rs397516052, rs397516056, rs397516057, rs397516058, rs397516059, rs397516061, rs397516067, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs201078659, rs397516082, rs397516083, rs1555122751, rs397516088, rs397516089, rs397516095, rs397516098, rs397516101, rs397516103, rs397516110, rs397516127, rs371898076, rs397516132, rs397516134, rs397516142, rs3218716, rs397516153, rs397516154, rs397516155, rs397516156, rs397516157, rs397516160, rs397516161, rs397516165, rs397516166, rs397516170, rs397516171, rs397516172, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516238, rs397516248, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516266, rs397516269, rs397516340, rs397516347, rs121917760, rs397516349, rs397516353, rs397516354, rs397516355, rs397516357, rs397516373, rs397516406, rs397516455, rs397516456, rs397516457, rs397516463, rs397516464, rs45525839, rs397516470, rs397516471, rs45578238, rs111377893, rs397516736, rs397516738, rs397516739, rs397516751, rs397516752, rs397516784, rs397517283, rs397514752, rs143697995, rs267607490, rs199472948, rs138193236, rs398123279, rs869320740, rs606231340, rs606231324, rs587779392, rs587779393, rs587782951, rs587782957, rs587782958, rs587782962, rs587782965, rs138049878, rs376897125, rs368765949, rs727504247, rs376923877, rs727504277, rs727504255, rs727504246, rs727504331, rs727503513, rs727504392, rs397516039, rs727504271, rs727504321, rs727504289, rs727504305, rs727503172, rs573821685, rs727503176, rs727503178, rs727504423, rs727503180, rs727504333, rs727503182, rs727504265, rs727503184, rs727503186, rs727503187, rs727504252, rs727504864, rs727504334, rs727503192, rs397515932, rs727504366, rs727504248, rs727504287, rs200411226, rs727503204, rs727504329, rs727504269, rs573916965, rs367947846, rs727503210, rs730880335, rs727503166, rs727504390, rs730880361, rs727504276, rs111683277, rs727503174, rs727503175, rs727504349, rs727504314, rs727504371, rs730880341, rs727504293, rs727503195, rs111437311, rs727503202, rs727503203, rs727504279, rs727505152, rs727503209, rs727503211, rs727503212, rs727503217, rs727503219, rs730880366, rs727503220, rs727504356, rs727504311, rs727503261, rs727503264, rs727504238, rs148808089, rs727503271, rs727504409, rs727503276, rs727504283, rs727503296, rs45544633, rs727503246, rs727503252, rs727503253, rs202141173, rs2754158, rs727504310, rs727503260, rs727504272, rs727504240, rs727503263, rs727504239, rs727504925, rs727504237, rs727504236, rs727505202, rs727504267, rs727503278, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504264, rs727504275, rs727503500, rs727503503, rs727503120, rs730880336, rs730880337, rs730880362, rs730880210, rs730880143, rs730880159, rs730881116, rs730881122, rs730880162, rs730880605, rs730880604, rs730880600, rs730880702, rs730880598, rs730880597, rs730880699, rs730880592, rs730880675, rs730880720, rs730880719, rs730880672, rs730880668, rs730880718, rs730880666, rs730880586, rs730880584, rs11570112, rs730880578, rs730880576, rs730880660, rs730880657, rs730880655, rs730880654, rs730880653, rs730880652, rs730880714, rs730880651, rs730880558, rs730880649, rs730880647, rs730880713, rs730880646, rs730880546, rs727503197, rs730880695, rs730880644, rs730880640, rs730880712, rs730880544, rs730880542, rs730880541, rs730880538, rs730880533, rs730880531, rs730880641, rs730880639, rs397515890, rs730880724, rs730880635, rs730880723, rs730880686, rs730880631, rs730880678, rs730880629, rs730880684, rs368121566, rs730880621, rs730880681, rs375607980, rs730880618, rs730880680, rs730880679, rs730880677, rs730880704, rs730880703, rs730880721, rs730880698, rs730880664, rs730880663, rs730880662, rs730880659, rs730880916, rs727504558, rs730880759, rs730880756, rs730880750, rs730880749, rs730880748, rs730880736, rs727504241, rs727504299, rs730880732, rs730880883, rs730880930, rs730880929, rs730880875, rs370310929, rs730880926, rs730880864, rs730880856, rs397516268, rs730880922, rs730880845, rs730880388, rs730881091, rs786204352, rs786204339, rs786204338, rs786204336, rs786204329, rs2069544, rs281865416, rs773317399, rs121913648, rs730880809, rs863224483, rs863224899, rs863224900, rs863225120, rs863225121, rs863225107, rs863225114, rs863225113, rs863225104, rs863225105, rs863225112, rs863225106, rs863225109, rs863225111, rs863225100, rs863225103, rs863225102, rs863225097, rs863225101, rs730880876, rs863225272, rs863225271, rs190228518, rs863225269, rs761507504, rs864622224, rs1057515421, rs869025470, rs869025469, rs869025461, rs869025468, rs869025460, rs869025467, rs869025466, rs869025465, rs869025464, rs869025463, rs869025459, rs869025462, rs727503512, rs876657706, rs876657705, rs876657703, rs876657702, rs727503213, rs876657884, rs878854428, rs878853831, rs878853842, rs1562999443, rs1563003848, rs1562991002, rs879255639, rs886037900, rs886037902, rs886037901, rs886038822, rs886039030, rs886039185, rs754664923, rs141019458, rs1057517766, rs1057517767, rs779650200, rs1057518030, rs1057517711, rs1057519503, rs1057520814, rs1060499673, rs1060501480, rs1060501484, rs1060501481, rs1060501478, rs1064792936, rs1060501475, rs1060501479, rs1064792935, rs1060501436, rs1060501448, rs1060501443, rs1060501452, rs1060505018, rs1060499604, rs781135153, rs1064796231, rs1064793202, rs977277400, rs1064793429, rs771929829, rs745811346, rs1114167419, rs1114167361, rs1555409659, rs1555123389, rs1131691514, rs1131692185, rs1131692058, rs1553279294, rs1555120920, rs1555121924, rs1555338319, rs1555120300, rs1555121488, rs373792537, rs1444727212, rs1555338462, rs1555120937, rs1555123629, rs794727046, rs1555123633, rs1555121172, rs1555123438, rs1555336467, rs1555338658, rs1213930919, rs1432810664, rs1555122188, rs764743402, rs974671846, rs1420159591, rs745688425, rs1555338080, rs200889953, rs1555120258, rs1298025872, rs767039057, rs1555120529, rs1555121247, rs774521272, rs1555122156, rs1555123473, rs1555123496, rs1555123597, rs1555337701, rs2856897, rs869312381, rs1555122928, rs1555123743, rs1554401581, rs1555120651, rs868819340, rs1555122053, rs730880742, rs758891557, rs1555337794, rs1555338378, rs1555338758, rs1245885836, rs1566530698, rs1566513862, rs1565629792, rs730880751, rs727504294, rs1563001548, rs1565622952, rs1565625473, rs1565626409, rs1565627536, rs1565628062, rs1565628486, rs1565631430, rs1391622163, rs1131691685, rs749007293, rs1566535491, rs1565624090, rs1565625777, rs1565631428, rs1568858210, rs1566537070, rs1565627566, rs1567864804, rs1563161306, rs1565622703, rs190765116, rs1595843598, rs1565625795, rs1565628078, rs774316050, rs1565631381, rs1565631424, rs1566531421, rs730880872, rs730880870, rs1566536418, rs1566536436, rs1565623216, rs1265248322, rs113276889, rs1562998062, rs1419032418, rs1565627615, rs1565624196, rs1595843640, rs1595846398, rs764950910, rs1600448065, rs1600462474, rs1417887060, rs1600477808, rs1600480573, rs1050997719, rs1420394583, rs1595840648, rs1595841063, rs1595843549, rs1595843758, rs1595845565, rs1595845888, rs1595846344, rs1595846475, rs1595849931, rs1595070747, rs1246272841, rs730880741, rs1173617248, rs1595085409, rs730880879, rs1299079662, rs1595848628, rs1595849603, rs1450218521, rs1571627587, rs1603037717, rs1603038411, rs1595850762, rs777702465, rs1595841736, rs1595842238, rs1595845204, rs1025692267, rs1595070689, rs1198682781, rs2095879705, rs201911056, rs727504425, rs141414377, rs1596303148, rs1595841206, rs1595844714, rs1595842632, rs1595843828, rs113709679, rs1595841552, rs1595849742, rs754529157, rs1709195189, rs1342121466, rs2095880935, rs2095883508, rs2095884984, rs2095889902, rs2095891411, rs2095898532, rs780625785, rs1892592854, rs1892948780, rs2095879167, rs1956121988, rs2095893477, rs2095894178, rs1801002279, rs1892956157
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Mental retardation	Mild Mental Retardation	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Osteochondrodysplasia	Osteochondrodysplasias	rs386833498, rs104893919, rs104893916, rs386833492, rs121908078, rs386833497, rs386833507, rs200963884, rs121908077, rs786204675, rs763198695, rs1554095433, rs766836061
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Sick sinus syndrome	Sick Sinus Syndrome	rs104894488, rs1057519015, rs121908411, rs869025519, rs1057519274, rs794727637, rs1057519275, rs1057519276
Skeletal dysplasia	Skeletal dysplasia	rs121912632, rs121912633, rs121912634, rs121912636, rs121912637, rs267607147, rs387906324, rs267607150, rs397514473, rs398123438, rs515726153, rs515726154, rs515726162, rs515726163, rs515726172, rs757011098
Ventricular fibrillation	Ventricular Fibrillation	rs137854604, rs587782933, rs190140598	19120683
Ventricular tachycardia	Tachycardia, Ventricular	rs137853228, rs397517025, rs199473373, rs727504432, rs1450434935, rs1592847299	27283775

Unknown
Disease term	Disease name	Evidence	References	Source
Hypertrichotic osteochondrodysplasia	hypertrichotic osteochondrodysplasia Cantu type			GenCC
Brugada Syndrome	Brugada syndrome 1			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Abnormalities Drug Induced	Associate	22562657
Amyotrophic Lateral Sclerosis	Associate	29492846
Arrhythmias Cardiac	Associate	22562657
Atrial Fibrillation	Associate	22562657
Brugada Syndrome	Associate	20558321, 22056721, 22840528
Cantu syndrome	Associate	24176758, 24700710, 29327300, 31175705, 31828977, 32100467, 34056838, 37527933
Cardiomegaly	Associate	37527933
Cardiomyopathy Dilated	Associate	24339868
Cardiovascular Diseases	Associate	33686948
Carotid Stenosis	Associate	33686948
Cerebral Infarction	Associate	33686948
Constriction Pathologic	Associate	33259239
Death Sudden Cardiac	Associate	24176758
Developmental Disabilities	Associate	19139106
Diabetes Mellitus Transient Neonatal 1	Associate	19139106
Early Onset Glaucoma	Associate	20558321, 22056721
Epilepsy	Associate	19139106, 36097778
Esophageal Neoplasms	Associate	26631031
Glaucoma 1 Open Angle J	Associate	20558321, 22562657, 23632791, 24176758
Graft Occlusion Vascular	Associate	33259239
Heart Failure	Associate	37909603
Inflammation	Associate	37909603
Leiomyoma	Associate	18569028
Lymphedema	Associate	37527933
Nasopharyngeal Neoplasms	Associate	37538797
Neoplasms	Associate	26631031
Sarcopenia	Associate	37909603
Vascular Diseases	Associate	24176758
Ventricular Fibrillation	Associate	24176758