KCNJ2 (potassium inwardly rectifying channel subfamily J member 2)

Gene

• Entrez ID: 3759
• Gene name: Potassium inwardly rectifying channel subfamily J member 2
• Gene symbol: KCNJ2
• Synonyms (NCBI Gene): ATFB9, HHBIRK1, HHIRK1, IRK1, KIR2.1, LQT7, SQT3
• Chromosome: 17
• Chromosome location: 17q24.3
• 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

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894575	A>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894578	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894579	G>A,C,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894580	C>A,T	Pathogenic, not-provided	Synonymous variant, missense variant, coding sequence variant
rs104894581	C>A,T	Pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant
rs104894582	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894583	A>C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894584	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs104894585	C>G,T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs141069645	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs147750704	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs199473368	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473369	G>A,C	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199473371	A>G	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473373	C>T	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473377	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473380	G>A,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs199473381	G>A,C,T	Uncertain-significance, not-provided, likely-pathogenic	Missense variant, coding sequence variant
rs199473383	G>A	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473384	G>A,C,T	Uncertain-significance, likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs199473385	G>A,C	Pathogenic, not-provided	Missense variant, coding sequence variant
rs199473387	A>C,G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs199473389	C>T	Likely-pathogenic, not-provided	Missense variant, coding sequence variant
rs199473650	G>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs199473653	G>A	Likely-pathogenic, pathogenic, not-provided	Missense variant, coding sequence variant
rs367560052	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs370111593	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs786205812	T>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs786205813	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs786205817	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205818	A>C,G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs786205820	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs797044841	GCTTTCGTCCTG>-	Pathogenic	Coding sequence variant, inframe deletion
rs797044842	G>C	Pathogenic	Missense variant, coding sequence variant
rs864622292	CCA>TTT	Likely-pathogenic	Missense variant, coding sequence variant
rs876661184	T>G	Pathogenic	Missense variant, coding sequence variant
rs1060500053	C>T	Pathogenic	Coding sequence variant, stop gained
rs1131691475	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555603968	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555603974	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555603994	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1567823248	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598211251	->ATTGGC	Likely-pathogenic	Inframe insertion, coding sequence variant
rs1598211614	G>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001983	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT001983	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT001983	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT001983	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT001983	hsa-miR-1-3p	Luciferase reporter assay	17401374
MIRT001983	hsa-miR-1-3p	Luciferase reporter assay	19775284
MIRT001983	hsa-miR-1-3p	qRT-PCR	21169019
MIRT007044	hsa-miR-212-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	22880819
MIRT007044	hsa-miR-212-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	22880819
MIRT001983	hsa-miR-1-3p	Reporter assay;Other	17401374
MIRT260199	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT260200	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT288812	hsa-miR-206	PAR-CLIP	20371350
MIRT288813	hsa-miR-613	PAR-CLIP	20371350
MIRT001983	hsa-miR-1-3p	PAR-CLIP	20371350
MIRT288804	hsa-miR-3646	PAR-CLIP	20371350
MIRT288782	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT288811	hsa-miR-203a-3p	PAR-CLIP	20371350
MIRT288807	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT288801	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT288802	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT288803	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT288800	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT288815	hsa-miR-6124	PAR-CLIP	20371350
MIRT260205	hsa-miR-548aw	PAR-CLIP	20371350
MIRT567027	hsa-miR-6505-5p	PAR-CLIP	20371350
MIRT567026	hsa-miR-7850-5p	PAR-CLIP	20371350
MIRT251628	hsa-miR-196b-5p	PAR-CLIP	21572407
MIRT251626	hsa-miR-196a-5p	PAR-CLIP	21572407
MIRT251627	hsa-miR-9-5p	PAR-CLIP	21572407
MIRT251630	hsa-miR-3927-3p	PAR-CLIP	21572407
MIRT251634	hsa-miR-6831-5p	PAR-CLIP	21572407
MIRT260202	hsa-miR-586	PAR-CLIP	21572407
MIRT251632	hsa-miR-5681b	PAR-CLIP	21572407
MIRT547742	hsa-miR-331-5p	PAR-CLIP	21572407
MIRT251633	hsa-miR-6509-5p	PAR-CLIP	21572407
MIRT001983	hsa-miR-1-3p	Western blot	28112313
MIRT260199	hsa-miR-19a-3p	PAR-CLIP	20371350
MIRT260200	hsa-miR-19b-3p	PAR-CLIP	20371350
MIRT288812	hsa-miR-206	PAR-CLIP	20371350
MIRT288813	hsa-miR-613	PAR-CLIP	20371350
MIRT001983	hsa-miR-1-3p	PAR-CLIP	20371350
MIRT288804	hsa-miR-3646	PAR-CLIP	20371350
MIRT288782	hsa-miR-651-3p	PAR-CLIP	20371350
MIRT288811	hsa-miR-203a-3p	PAR-CLIP	20371350
MIRT288807	hsa-miR-548aj-5p	PAR-CLIP	20371350
MIRT288801	hsa-miR-548f-5p	PAR-CLIP	20371350
MIRT288802	hsa-miR-548g-5p	PAR-CLIP	20371350
MIRT288803	hsa-miR-548x-5p	PAR-CLIP	20371350
MIRT288800	hsa-miR-1468-3p	PAR-CLIP	20371350
MIRT288815	hsa-miR-6124	PAR-CLIP	20371350
MIRT260205	hsa-miR-548aw	PAR-CLIP	20371350
MIRT567027	hsa-miR-6505-5p	PAR-CLIP	20371350
MIRT567026	hsa-miR-7850-5p	PAR-CLIP	20371350
MIRT251628	hsa-miR-196b-5p	PAR-CLIP	21572407
MIRT251626	hsa-miR-196a-5p	PAR-CLIP	21572407
MIRT251627	hsa-miR-9-5p	PAR-CLIP	21572407
MIRT251630	hsa-miR-3927-3p	PAR-CLIP	21572407
MIRT251634	hsa-miR-6831-5p	PAR-CLIP	21572407
MIRT260202	hsa-miR-586	PAR-CLIP	21572407
MIRT251632	hsa-miR-5681b	PAR-CLIP	21572407
MIRT547742	hsa-miR-331-5p	PAR-CLIP	21572407
MIRT251633	hsa-miR-6509-5p	PAR-CLIP	21572407
MIRT1081490	hsa-miR-1273e	CLIP-seq
MIRT1081491	hsa-miR-1470	CLIP-seq
MIRT1081492	hsa-miR-193a-3p	CLIP-seq
MIRT1081493	hsa-miR-193b	CLIP-seq
MIRT1081494	hsa-miR-3176	CLIP-seq
MIRT1081495	hsa-miR-3192	CLIP-seq
MIRT1081496	hsa-miR-320a	CLIP-seq
MIRT1081497	hsa-miR-320b	CLIP-seq
MIRT1081498	hsa-miR-320c	CLIP-seq
MIRT1081499	hsa-miR-320d	CLIP-seq
MIRT1081500	hsa-miR-3613-3p	CLIP-seq
MIRT1081501	hsa-miR-371b-5p	CLIP-seq
MIRT1081502	hsa-miR-3922-3p	CLIP-seq
MIRT1081503	hsa-miR-4313	CLIP-seq
MIRT1081504	hsa-miR-4314	CLIP-seq
MIRT1081505	hsa-miR-4328	CLIP-seq
MIRT1081506	hsa-miR-4429	CLIP-seq
MIRT1081507	hsa-miR-4446-5p	CLIP-seq
MIRT1081508	hsa-miR-4461	CLIP-seq
MIRT1081509	hsa-miR-4469	CLIP-seq
MIRT1081510	hsa-miR-4633-5p	CLIP-seq
MIRT1081511	hsa-miR-4646-5p	CLIP-seq
MIRT1081512	hsa-miR-4667-3p	CLIP-seq
MIRT1081513	hsa-miR-4712-5p	CLIP-seq
MIRT1081514	hsa-miR-4755-5p	CLIP-seq
MIRT1081515	hsa-miR-4757-5p	CLIP-seq
MIRT1081516	hsa-miR-4773	CLIP-seq
MIRT1081517	hsa-miR-4777-5p	CLIP-seq
MIRT1081518	hsa-miR-518d-5p	CLIP-seq
MIRT1081519	hsa-miR-519b-5p	CLIP-seq
MIRT1081520	hsa-miR-519c-5p	CLIP-seq
MIRT1081521	hsa-miR-520c-5p	CLIP-seq
MIRT1081522	hsa-miR-526a	CLIP-seq
MIRT1081523	hsa-miR-548ac	CLIP-seq
MIRT1081524	hsa-miR-548ae	CLIP-seq
MIRT1081525	hsa-miR-548aj	CLIP-seq
MIRT1081526	hsa-miR-548am	CLIP-seq
MIRT1081527	hsa-miR-548d-3p	CLIP-seq
MIRT1081528	hsa-miR-548x	CLIP-seq
MIRT1081529	hsa-miR-548z	CLIP-seq
MIRT1081530	hsa-miR-578	CLIP-seq
MIRT1081531	hsa-miR-642a	CLIP-seq
MIRT1081532	hsa-miR-770-5p	CLIP-seq
MIRT1081533	hsa-miR-885-5p	CLIP-seq
MIRT1081534	hsa-miR-892b	CLIP-seq
MIRT2020189	hsa-miR-2276	CLIP-seq
MIRT2020190	hsa-miR-3130-5p	CLIP-seq
MIRT2020191	hsa-miR-3173-3p	CLIP-seq
MIRT2020192	hsa-miR-4291	CLIP-seq
MIRT2020193	hsa-miR-4428	CLIP-seq
MIRT2020194	hsa-miR-4477b	CLIP-seq
MIRT2020195	hsa-miR-4482	CLIP-seq
MIRT2020196	hsa-miR-4727-5p	CLIP-seq
MIRT2020197	hsa-miR-4769-3p	CLIP-seq
MIRT1081516	hsa-miR-4773	CLIP-seq
MIRT1081517	hsa-miR-4777-5p	CLIP-seq
MIRT2020198	hsa-miR-513c	CLIP-seq
MIRT2020199	hsa-miR-514b-5p	CLIP-seq
MIRT1081518	hsa-miR-518d-5p	CLIP-seq
MIRT1081519	hsa-miR-519b-5p	CLIP-seq
MIRT1081520	hsa-miR-519c-5p	CLIP-seq
MIRT1081521	hsa-miR-520c-5p	CLIP-seq
MIRT1081522	hsa-miR-526a	CLIP-seq
MIRT2252020	hsa-miR-1238	CLIP-seq
MIRT2252021	hsa-miR-1912	CLIP-seq
MIRT2252022	hsa-miR-19a	CLIP-seq
MIRT2252023	hsa-miR-19b	CLIP-seq
MIRT2252024	hsa-miR-3183	CLIP-seq
MIRT2252025	hsa-miR-3662	CLIP-seq
MIRT2252026	hsa-miR-3667-3p	CLIP-seq
MIRT2252027	hsa-miR-3975	CLIP-seq
MIRT2252028	hsa-miR-4311	CLIP-seq
MIRT2252029	hsa-miR-4698	CLIP-seq
MIRT2252030	hsa-miR-4723-3p	CLIP-seq
MIRT1081516	hsa-miR-4773	CLIP-seq
MIRT1081517	hsa-miR-4777-5p	CLIP-seq
MIRT2020198	hsa-miR-513c	CLIP-seq
MIRT2020199	hsa-miR-514b-5p	CLIP-seq
MIRT1081518	hsa-miR-518d-5p	CLIP-seq
MIRT1081519	hsa-miR-519b-5p	CLIP-seq
MIRT1081520	hsa-miR-519c-5p	CLIP-seq
MIRT1081521	hsa-miR-520c-5p	CLIP-seq
MIRT1081522	hsa-miR-526a	CLIP-seq
MIRT2252022	hsa-miR-19a	CLIP-seq
MIRT2252023	hsa-miR-19b	CLIP-seq
MIRT2555287	hsa-miR-1183	CLIP-seq
MIRT2555288	hsa-miR-1202	CLIP-seq
MIRT2555289	hsa-miR-122	CLIP-seq
MIRT2555290	hsa-miR-1253	CLIP-seq
MIRT2555291	hsa-miR-1276	CLIP-seq
MIRT2555292	hsa-miR-1324	CLIP-seq
MIRT2555293	hsa-miR-135a	CLIP-seq
MIRT2555294	hsa-miR-135b	CLIP-seq
MIRT2555295	hsa-miR-138	CLIP-seq
MIRT2555296	hsa-miR-1587	CLIP-seq
MIRT2555297	hsa-miR-15a	CLIP-seq
MIRT2555298	hsa-miR-15b	CLIP-seq
MIRT2555299	hsa-miR-16	CLIP-seq
MIRT2555300	hsa-miR-186	CLIP-seq
MIRT2555301	hsa-miR-18a	CLIP-seq
MIRT2555302	hsa-miR-18b	CLIP-seq
MIRT2555303	hsa-miR-195	CLIP-seq
MIRT2555304	hsa-miR-2110	CLIP-seq
MIRT2555305	hsa-miR-214	CLIP-seq
MIRT2555306	hsa-miR-219-1-3p	CLIP-seq
MIRT2555307	hsa-miR-219-5p	CLIP-seq
MIRT2555308	hsa-miR-296-3p	CLIP-seq
MIRT2555309	hsa-miR-3064-3p	CLIP-seq
MIRT2555310	hsa-miR-3117-3p	CLIP-seq
MIRT2555311	hsa-miR-3117-5p	CLIP-seq
MIRT2555312	hsa-miR-3121-3p	CLIP-seq
MIRT2020190	hsa-miR-3130-5p	CLIP-seq
MIRT2555313	hsa-miR-3150a-3p	CLIP-seq
MIRT2555314	hsa-miR-3159	CLIP-seq
MIRT2555315	hsa-miR-3169	CLIP-seq
MIRT2020191	hsa-miR-3173-3p	CLIP-seq
MIRT2555316	hsa-miR-3177-5p	CLIP-seq
MIRT2555317	hsa-miR-323-3p	CLIP-seq
MIRT2555318	hsa-miR-3612	CLIP-seq
MIRT2555319	hsa-miR-3618	CLIP-seq
MIRT2555320	hsa-miR-3619-5p	CLIP-seq
MIRT2555321	hsa-miR-3671	CLIP-seq
MIRT2555322	hsa-miR-3688-5p	CLIP-seq
MIRT2555323	hsa-miR-383	CLIP-seq
MIRT2555324	hsa-miR-3911	CLIP-seq
MIRT2555325	hsa-miR-3934	CLIP-seq
MIRT2555326	hsa-miR-3972	CLIP-seq
MIRT2555327	hsa-miR-3973	CLIP-seq
MIRT2555328	hsa-miR-424	CLIP-seq
MIRT2020192	hsa-miR-4291	CLIP-seq
MIRT2555329	hsa-miR-4299	CLIP-seq
MIRT2252028	hsa-miR-4311	CLIP-seq
MIRT2555330	hsa-miR-4417	CLIP-seq
MIRT2020193	hsa-miR-4428	CLIP-seq
MIRT2555331	hsa-miR-4443	CLIP-seq
MIRT2555332	hsa-miR-4445	CLIP-seq
MIRT2555333	hsa-miR-4450	CLIP-seq
MIRT2555334	hsa-miR-4475	CLIP-seq
MIRT2555335	hsa-miR-4477a	CLIP-seq
MIRT2020194	hsa-miR-4477b	CLIP-seq
MIRT2020195	hsa-miR-4482	CLIP-seq
MIRT2555336	hsa-miR-4490	CLIP-seq
MIRT2555337	hsa-miR-4492	CLIP-seq
MIRT2555338	hsa-miR-4494	CLIP-seq
MIRT2555339	hsa-miR-4498	CLIP-seq
MIRT2555340	hsa-miR-4499	CLIP-seq
MIRT2555341	hsa-miR-4517	CLIP-seq
MIRT2555342	hsa-miR-455-3p	CLIP-seq
MIRT2555343	hsa-miR-4642	CLIP-seq
MIRT2555344	hsa-miR-4645-3p	CLIP-seq
MIRT2555345	hsa-miR-4645-5p	CLIP-seq
MIRT2555346	hsa-miR-4656	CLIP-seq
MIRT2555347	hsa-miR-4663	CLIP-seq
MIRT2555348	hsa-miR-4673	CLIP-seq
MIRT2555349	hsa-miR-4675	CLIP-seq
MIRT2555350	hsa-miR-4681	CLIP-seq
MIRT2252029	hsa-miR-4698	CLIP-seq
MIRT2555351	hsa-miR-4725-5p	CLIP-seq
MIRT2555352	hsa-miR-4729	CLIP-seq
MIRT2555353	hsa-miR-4735-3p	CLIP-seq
MIRT2555354	hsa-miR-4736	CLIP-seq
MIRT2555355	hsa-miR-4741	CLIP-seq
MIRT2555356	hsa-miR-4742-5p	CLIP-seq
MIRT2555357	hsa-miR-4759	CLIP-seq
MIRT2555358	hsa-miR-4772-5p	CLIP-seq
MIRT2555359	hsa-miR-4782-3p	CLIP-seq
MIRT2555360	hsa-miR-4797-5p	CLIP-seq
MIRT2555361	hsa-miR-493	CLIP-seq
MIRT2555362	hsa-miR-495	CLIP-seq
MIRT2555363	hsa-miR-497	CLIP-seq
MIRT2555364	hsa-miR-504	CLIP-seq
MIRT2020198	hsa-miR-513c	CLIP-seq
MIRT2020199	hsa-miR-514b-5p	CLIP-seq
MIRT2555365	hsa-miR-541	CLIP-seq
MIRT2555366	hsa-miR-548a-5p	CLIP-seq
MIRT2555367	hsa-miR-548ab	CLIP-seq
MIRT1081523	hsa-miR-548ac	CLIP-seq
MIRT1081524	hsa-miR-548ae	CLIP-seq
MIRT1081525	hsa-miR-548aj	CLIP-seq
MIRT2555368	hsa-miR-548ak	CLIP-seq
MIRT1081526	hsa-miR-548am	CLIP-seq
MIRT2555369	hsa-miR-548b-5p	CLIP-seq
MIRT2555370	hsa-miR-548c-5p	CLIP-seq
MIRT1081527	hsa-miR-548d-3p	CLIP-seq
MIRT2555371	hsa-miR-548d-5p	CLIP-seq
MIRT2555372	hsa-miR-548h	CLIP-seq
MIRT2555373	hsa-miR-548i	CLIP-seq
MIRT2555374	hsa-miR-548j	CLIP-seq
MIRT2555375	hsa-miR-548w	CLIP-seq
MIRT1081528	hsa-miR-548x	CLIP-seq
MIRT2555376	hsa-miR-548y	CLIP-seq
MIRT1081529	hsa-miR-548z	CLIP-seq
MIRT2555377	hsa-miR-559	CLIP-seq
MIRT2555378	hsa-miR-583	CLIP-seq
MIRT2555379	hsa-miR-595	CLIP-seq
MIRT2555380	hsa-miR-606	CLIP-seq
MIRT2555381	hsa-miR-628-5p	CLIP-seq
MIRT2555382	hsa-miR-629	CLIP-seq
MIRT2555383	hsa-miR-644	CLIP-seq
MIRT2555384	hsa-miR-650	CLIP-seq
MIRT2555385	hsa-miR-654-5p	CLIP-seq
MIRT2555386	hsa-miR-760	CLIP-seq
MIRT2555387	hsa-miR-761	CLIP-seq
MIRT2555388	hsa-miR-762	CLIP-seq
MIRT2555389	hsa-miR-877	CLIP-seq
MIRT2555390	hsa-miR-922	CLIP-seq
MIRT2555391	hsa-miR-934	CLIP-seq
MIRT2555288	hsa-miR-1202	CLIP-seq
MIRT2555289	hsa-miR-122	CLIP-seq
MIRT2252020	hsa-miR-1238	CLIP-seq
MIRT2555290	hsa-miR-1253	CLIP-seq
MIRT2555291	hsa-miR-1276	CLIP-seq
MIRT2555293	hsa-miR-135a	CLIP-seq
MIRT2555294	hsa-miR-135b	CLIP-seq
MIRT2555300	hsa-miR-186	CLIP-seq
MIRT2555304	hsa-miR-2110	CLIP-seq
MIRT2555306	hsa-miR-219-1-3p	CLIP-seq
MIRT2555307	hsa-miR-219-5p	CLIP-seq
MIRT2555308	hsa-miR-296-3p	CLIP-seq
MIRT2555313	hsa-miR-3150a-3p	CLIP-seq
MIRT2683227	hsa-miR-3152-5p	CLIP-seq
MIRT2555314	hsa-miR-3159	CLIP-seq
MIRT2683228	hsa-miR-3182	CLIP-seq
MIRT2252024	hsa-miR-3183	CLIP-seq
MIRT2683229	hsa-miR-3607-3p	CLIP-seq
MIRT2252026	hsa-miR-3667-3p	CLIP-seq
MIRT2555321	hsa-miR-3671	CLIP-seq
MIRT2683230	hsa-miR-3686	CLIP-seq
MIRT2555326	hsa-miR-3972	CLIP-seq
MIRT2555327	hsa-miR-3973	CLIP-seq
MIRT2252028	hsa-miR-4311	CLIP-seq
MIRT2683231	hsa-miR-4423-5p	CLIP-seq
MIRT2555332	hsa-miR-4445	CLIP-seq
MIRT2555333	hsa-miR-4450	CLIP-seq
MIRT2555334	hsa-miR-4475	CLIP-seq
MIRT2555335	hsa-miR-4477a	CLIP-seq
MIRT2555336	hsa-miR-4490	CLIP-seq
MIRT2555341	hsa-miR-4517	CLIP-seq
MIRT2555347	hsa-miR-4663	CLIP-seq
MIRT2555350	hsa-miR-4681	CLIP-seq
MIRT2252030	hsa-miR-4723-3p	CLIP-seq
MIRT2555351	hsa-miR-4725-5p	CLIP-seq
MIRT2555352	hsa-miR-4729	CLIP-seq
MIRT2555354	hsa-miR-4736	CLIP-seq
MIRT2555359	hsa-miR-4782-3p	CLIP-seq
MIRT2555360	hsa-miR-4797-5p	CLIP-seq
MIRT2555362	hsa-miR-495	CLIP-seq
MIRT2555364	hsa-miR-504	CLIP-seq
MIRT2555366	hsa-miR-548a-5p	CLIP-seq
MIRT2555367	hsa-miR-548ab	CLIP-seq
MIRT1081523	hsa-miR-548ac	CLIP-seq
MIRT1081524	hsa-miR-548ae	CLIP-seq
MIRT1081525	hsa-miR-548aj	CLIP-seq
MIRT2555368	hsa-miR-548ak	CLIP-seq
MIRT1081526	hsa-miR-548am	CLIP-seq
MIRT2683232	hsa-miR-548b-3p	CLIP-seq
MIRT2555369	hsa-miR-548b-5p	CLIP-seq
MIRT2555370	hsa-miR-548c-5p	CLIP-seq
MIRT1081527	hsa-miR-548d-3p	CLIP-seq
MIRT2555371	hsa-miR-548d-5p	CLIP-seq
MIRT2555372	hsa-miR-548h	CLIP-seq
MIRT2555373	hsa-miR-548i	CLIP-seq
MIRT2555374	hsa-miR-548j	CLIP-seq
MIRT2555375	hsa-miR-548w	CLIP-seq
MIRT1081528	hsa-miR-548x	CLIP-seq
MIRT2555376	hsa-miR-548y	CLIP-seq
MIRT1081529	hsa-miR-548z	CLIP-seq
MIRT2555377	hsa-miR-559	CLIP-seq
MIRT2555378	hsa-miR-583	CLIP-seq
MIRT2555381	hsa-miR-628-5p	CLIP-seq
MIRT2555386	hsa-miR-760	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005242	Function	Inward rectifier potassium channel activity	IBA
GO:0005242	Function	Inward rectifier potassium channel activity	IDA	7696590, 7840300, 8821791, 9490857, 9533862, 11371347, 12086641, 20921230, 36149965
GO:0005242	Function	Inward rectifier potassium channel activity	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IMP	15761194, 15922306, 16571646, 17324964, 36149965
GO:0005515	Function	Protein binding	IPI	30126976, 32296183, 32541000
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IDA	12086641, 36149965
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	9533862
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7696590
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IDA	20921230
GO:0006813	Process	Potassium ion transport	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	12086641
GO:0014704	Component	Intercalated disc	IEA
GO:0014861	Process	Regulation of skeletal muscle contraction via regulation of action potential	IMP	11371347
GO:0015693	Process	Magnesium ion transport	IEA
GO:0016020	Component	Membrane	IDA	20921230
GO:0016020	Component	Membrane	IEA
GO:0030007	Process	Intracellular potassium ion homeostasis	TAS	20086079
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	ISS
GO:0030425	Component	Dendrite	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0034765	Process	Regulation of monoatomic ion transmembrane transport	IBA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0043025	Component	Neuronal cell body	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051289	Process	Protein homotetramerization	IDA	20921230, 36149965
GO:0055119	Process	Relaxation of cardiac muscle	IMP	11371347
GO:0060075	Process	Regulation of resting membrane potential	TAS	20086079
GO:0060306	Process	Regulation of membrane repolarization	IDA	11371347
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	12086641, 36149965
GO:0086001	Process	Cardiac muscle cell action potential	IEA
GO:0086002	Process	Cardiac muscle cell action potential involved in contraction	IMP	11371347
GO:0086004	Process	Regulation of cardiac muscle cell contraction	IEA
GO:0086008	Function	Voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	IMP	11371347
GO:0086011	Process	Membrane repolarization during action potential	IMP	11371347
GO:0086012	Process	Membrane depolarization during cardiac muscle cell action potential	TAS	20086079
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	IMP	11371347
GO:0086013	Process	Membrane repolarization during cardiac muscle cell action potential	TAS	20086079
GO:0086091	Process	Regulation of heart rate by cardiac conduction	IMP	15761194
GO:0090076	Process	Relaxation of skeletal muscle	IMP	11371347
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	11371347

Other IDs

• MIM: 600681
• HGNC: 6263
• e!Ensembl: ENSG00000123700

Protein

• UniProt ID: P63252
• Protein name: Inward rectifier potassium channel 2 (Cardiac inward rectifier potassium channel) (Inward rectifier K(+) channel Kir2.1) (IRK-1) (hIRK1) (Potassium channel, inwardly rectifying subfamily J member 2)
• 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:36149965, PubMed:7590287, PubMed:9490857). Their voltage dependence is regulated by the concentrat
• PDB: 6SPZ, 7ZDZ, 8QQL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08466	IRK_N	1 → 47	Inward rectifier potassium channel N-terminal	Family
  PF01007	IRK	48 → 186	Inward rectifier potassium channel transmembrane domain	Domain
  PF17655	IRK_C	193 → 366	Inward rectifier potassium channel C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Heart, brain, placenta, lung, skeletal muscle, and kidney. Diffusely distributed throughout the brain.
• Sequence:

  MGSVRTNRYSIVSSEEDGMKLATMAVANGFGNGKSKVHTRQQCRSRFVKKDGHCNVQFIN
  VGEKGQRYLADIFTTCVDIRWRWMLVIFCLAFVLSWLFFGCVFWLIALLHGDLDASKEGK
  ACVSEVNSFTAAFLFSIETQTTIGYGFRCVTDECPIAVFMVVFQSIVGCIIDAFIIGAVM
  AKMAKPKKRNETLVFSHNAVIAMRDGKLCLMWRVGNLRKSHLVEAHVRAQLLKSRITSEG
  EYIPLDQIDINVGFDSGIDRIFLVSPITIVHEIDEDSPLYDLSKQDIDNADFEIVVILEG
  MVEATAMTTQCRSSYLANEILWGHRYEPVLFEEKHYYKVDYSRFHKTYEVPNTPLCSARD
  LAEKKYILSNANSFCYENEVALTSKEEDDSENGVPESTSTDTPPDIDLHNQASVPLEPRP
  LRRESEI

• Sequence length: 427

Pathways

KEGG:

Cholinergic synapse
Oxytocin signaling pathway
Renin secretion
Gastric acid secretion

Reactome:

Activation of G protein gated Potassium channels
Classical Kir channels
Phase 4 - resting membrane potential
Inhibition of voltage gated Ca2+ channels via Gbeta/gamma subunits

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Andersen Tawil syndrome	Likely pathogenic; Pathogenic	rs104894583, rs2144377213, rs199473385, rs786205820, rs199473372, rs864622292, rs104894575, rs104894578, rs104894579, rs2144376746, rs104894580, rs104894581, rs104894582, rs104894584, rs104894585, rs2509920970, rs199473650, rs199473387, rs1060500053, rs199473384, rs1555603974, rs1555603994, rs1555603968, rs1567823248, rs1598211614, rs786205817, rs199473368, rs199473371, rs199473373, rs199473653, rs199473378, rs199473377, rs199473654, rs199473382, rs199473383, rs199473388, rs199473389, rs2074387117, rs2074388917, rs2074390325	RCV002015482 RCV002021951 RCV001971766 RCV000644779 RCV002894880 RCV000206325 RCV000009473 RCV000009474 RCV000009475 RCV000009476 RCV000009478 RCV000009479 RCV000009480 RCV000009481 RCV001384722 RCV000009483 RCV004515764 RCV000023027 RCV000023028 RCV001382646 RCV001856985 RCV001389262 RCV000644782 RCV002291286 RCV000689975 RCV000790973 RCV000808465 RCV000850566 RCV001218636 RCV000644783 RCV001246254 RCV000157272 RCV000535797 RCV000466653 RCV001382882 RCV000644780 RCV001057585 RCV003764731 RCV001258374 RCV001388390 RCV000157273 RCV000194837 RCV001068766 RCV002513764 RCV001055449 RCV001064131 RCV001233893 RCV001260872	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrial fibrillation, familial, 1	Pathogenic	rs199473377	RCV001824594	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Atrial fibrillation, familial, 9	Likely pathogenic; Pathogenic	rs104894578, rs104894580, rs786205817, rs199473377, rs199473384	RCV005222677 RCV000763415 RCV000850566 RCV001535632 RCV002483105	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cardiac arrhythmia	Likely pathogenic; Pathogenic	rs1555603994, rs199473653, rs199473387	RCV002282268 RCV004700362 RCV001841764	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs2509921093, rs786205820, rs104894578, rs104894579, rs104894580, rs1555603994, rs1555603894, rs104894585, rs199473373, rs199473653, rs199473384, rs199473389	RCV002329933 RCV005647977 RCV004018605 RCV004629139 RCV002415408 RCV000620128 RCV005400740 RCV004629147 RCV002453375 RCV000619060 RCV002362693 RCV004992005	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital long QT syndrome	Pathogenic; Likely pathogenic	rs104894575, rs104894578, rs104894579, rs104894580, rs104894581, rs104894582, rs104894583, rs104894585, rs199473387, rs199473368, rs199473369, rs199473372, rs199473371, rs199473653, rs199473376, rs199473378, rs199473377, rs199473654, rs199473381, rs199473382, rs199473383, rs199473384, rs199473385, rs199473388, rs199473389	RCV000058298 RCV000058326 RCV000058332 RCV000058294 RCV000058319 RCV000058333 RCV000058324 RCV000058301 RCV000058335 RCV000058295 RCV000058297 RCV000058302 RCV000058303 RCV000058304 RCV000058306 RCV000058310 RCV000058311 RCV000058312 RCV000058313 RCV000058314 RCV000058320 RCV000058321 RCV000058323 RCV000058327 RCV000058329 RCV000058330 RCV000058338 RCV000058339	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial periodic paralysis	Pathogenic	rs199473650	RCV000058293	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KCNJ2-related disorder	Likely pathogenic; Pathogenic	rs199473389	RCV003390761	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short QT syndrome	Pathogenic	rs104894584	RCV000058318	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short QT syndrome type 1	Pathogenic	rs199473377	RCV001824594	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short QT syndrome type 3	Likely pathogenic; Pathogenic	rs104894583, rs2144377213, rs199473385, rs786205817, rs786205820, rs199473372, rs864622292, rs876661184, rs104894575, rs104894578, rs104894579, rs104894580, rs104894584, rs104894585, rs1060500053, rs199473384, rs1555603974, rs1555603994, rs1567823248, rs104894581, rs199473368, rs199473373, rs199473653, rs199473378, rs199473377, rs199473654, rs199473383, rs199473387, rs199473388, rs199473389, rs2074387117, rs2074388917, rs2074390325	RCV002015482 RCV002021951 RCV001971766 RCV003482239 RCV000644779 RCV002894880 RCV001379062 RCV002288908 RCV001851763 RCV000684775 RCV002512943 RCV000763415 RCV000009482 RCV001851764 RCV003481514 RCV001382646 RCV001856985 RCV001389262 RCV000644782 RCV000689975 RCV000808465 RCV000850566 RCV001218636 RCV000644783 RCV001246254 RCV000535797 RCV000791354 RCV001382882 RCV000644780 RCV001057585 RCV003764731 RCV001388390 RCV000791452 RCV003764732 RCV001068766 RCV002513764 RCV001055449 RCV001064131 RCV001233893 RCV001379609	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Supraventricular tachycardia	Pathogenic	rs199473373	RCV000678808	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ventricular tachycardia	Pathogenic	rs199473373	RCV000058305	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDERSEN SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDERSEN-TAWIL SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMIAS, CARDIAC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial fibrillation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATRIAL FIBRILLATION, FAMILIAL 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 10	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 11	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 12	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 13	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 14	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 15	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 5	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 6	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 7	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION, FAMILIAL, 8	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial atrial fibrillation	Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL LONG QT SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ATRIAL FIBRILLATION	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
POLYMORPHIC CATECHOLERGIC VENTRICULAR TACHYCARDIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT QT SYNDROME 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT QT SYNDROME 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT QT SYNDROME 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUDDEN INFANT DEATH SYNDROME	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular fibrillation	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Wolff-Parkinson-White pattern	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLFF-PARKINSON-WHITE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Andersen Syndrome	Associate	12148092, 14522976, 17119796, 17341397, 21148745, 21703452, 22166941, 23516313, 24047492, 24861851, 26109178, 28315637, 28336205, 29017447, 30516532, 31137226, 31311787, 31724784, 32299589, 32541000, 32843460, 33074188, 33345742, 34620975, 35892314, 39969299	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmias Cardiac	Associate	12148092, 17341397, 24047492, 24561538, 24861851, 35762211, 39969299	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Associate	22342860	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Associate	20657029, 23440193, 24460807, 28609477, 28711067, 34332113	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Stimulate	31270966	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Remodeling	Associate	28609477	★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Associate	12148092	★☆☆☆☆ Found in Text Mining only
Body Dysmorphic Disorders	Associate	17119796	★☆☆☆☆ Found in Text Mining only
Brachydactyly type A3	Associate	12148092, 17119796	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Associate	26230511	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cardiomyopathies	Associate	26710323, 35762211	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Associate	26710323	★☆☆☆☆ Found in Text Mining only
Cardiotoxicity	Stimulate	37061738	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Stimulate	37061738	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Associate	37184279	★☆☆☆☆ Found in Text Mining only
Channelopathies	Associate	32541000	★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Associate	32328155	★☆☆☆☆ Found in Text Mining only
Ciuffo Syndrome	Associate	12148092	★☆☆☆☆ Found in Text Mining only
Cleft Palate	Associate	12148092	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Associate	33668367	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Associate	17341397, 24861851	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Associate	19603079	★☆☆☆☆ Found in Text Mining only
Death	Associate	32328155	★☆☆☆☆ Found in Text Mining only
Death Sudden Cardiac	Associate	24861851	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Stimulate	28804970	★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Associate	37184279	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Associate	29863285	★☆☆☆☆ Found in Text Mining only
Epstein Barr Virus Infections	Associate	37434198	★☆☆☆☆ Found in Text Mining only
Erythema Infectiosum	Associate	17119796	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Associate	29863285	★☆☆☆☆ Found in Text Mining only
Fibrosis	Associate	32184906, 37184279	★☆☆☆☆ Found in Text Mining only
Gingival Hyperplasia	Associate	39257002	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Associate	19570891, 29813186	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Associate	17119796	★☆☆☆☆ Found in Text Mining only
Heart Arrest	Associate	24047492, 32328155	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Associate	32541000	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Associate	32184906	★☆☆☆☆ Found in Text Mining only
Inflammation	Associate	35363405	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Associate	28930970	★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Associate	39969299	★☆☆☆☆ Found in Text Mining only
Leukemia Monocytic Acute	Associate	26689595	★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Associate	19029296, 19305409, 20809527, 22342860, 24561134, 28003625, 29326130, 39969299, 40159220	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT Syndrome	Stimulate	37061738	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lupus Erythematosus Systemic	Associate	39290707	★☆☆☆☆ Found in Text Mining only
Malocclusion Angle Class II	Associate	39257002	★☆☆☆☆ Found in Text Mining only
Micrognathism	Associate	17119796	★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Associate	39290707	★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Associate	12148092	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Inhibit	35762211	★☆☆☆☆ Found in Text Mining only
Neointima	Associate	26689595	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Stimulate	36864422	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	33050503, 36323230	★☆☆☆☆ Found in Text Mining only
Neurologic Manifestations	Associate	28336205	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Associate	27116676	★☆☆☆☆ Found in Text Mining only
Paralyses Familial Periodic	Associate	12148092, 17341397, 24047492, 24861851, 31068157, 33345742	★☆☆☆☆ Found in Text Mining only
Paralysis Hyperkalemic Periodic	Associate	33345742	★☆☆☆☆ Found in Text Mining only
Pierre Robin Syndrome	Associate	17551083	★☆☆☆☆ Found in Text Mining only
Polymorphic catecholergic ventricular tachycardia	Associate	21148745, 23595086, 24561538, 34557911, 35892314	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Associate	39324181	★☆☆☆☆ Found in Text Mining only
Romano Ward Syndrome	Associate	39769116	★☆☆☆☆ Found in Text Mining only
Scoliosis	Associate	12148092, 24023777	★☆☆☆☆ Found in Text Mining only
Short QT Syndrome 1	Associate	28592292, 28609477, 32328155, 34557911, 39769116	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short QT Syndrome 3	Associate	23440193, 28711067, 39769116	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome 1 Autosomal Recessive	Associate	32328155	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Associate	17119796, 27543307	★☆☆☆☆ Found in Text Mining only
Syncope	Associate	31311787	★☆☆☆☆ Found in Text Mining only
Syndactyly	Associate	12148092	★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Associate	17341397, 21148745, 24561538, 26710323, 39969299	★☆☆☆☆ Found in Text Mining only
Taste Disorders	Associate	30060620	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Associate	21179278	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Stimulate	34212982	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Associate	34212982	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Associate	26710323	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Associate	23440193, 24427266, 32328155	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ventricular Premature Complexes	Associate	32328155, 39969299	★☆☆☆☆ Found in Text Mining only