Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3759
Gene name	Potassium inwardly rectifying channel subfamily J member 2
Gene symbol	KCNJ2
Synonyms (NCBI Gene)	ATFB9HHBIRK1HHIRK1IRK1KIR2.1LQT7SQT3
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

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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

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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	ImmunoblotLuciferase reporter assayqRT-PCR	22880819
MIRT007044	hsa-miR-212-3p	ImmunoblotLuciferase reporter assayqRT-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

Show/Hide all (52)

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

MIM	HGNC	e!Ensembl
600681	6263	ENSG00000123700

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

Interactions

View interactions

	KEGG		Reactome
	Cholinergic synapse Oxytocin signaling pathway Renin secretion Gastric acid secretion		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

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)

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Andersen Tawil syndrome	Likely pathogenic; Pathogenic	rs104894583, rs2144377213, rs199473385, rs786205820, rs199473372, rs864622292, rs104894575, rs104894578, rs104894579, rs2144376746, rs104894580, rs104894581, rs104894582, rs104894584, rs104894585 View all (25 more)	RCV002015482 RCV002021951 RCV001971766 RCV000644779 RCV002894880 View all (43 more)	★★★★★ ★★★★★ 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 View all (7 more)	★★★★★ ★★★★★ 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 View all (10 more)	RCV000058298 RCV000058326 RCV000058332 RCV000058294 RCV000058319 View all (23 more)	★★★★★ ★★★★★ 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 View all (18 more)	RCV002015482 RCV002021951 RCV001971766 RCV003482239 RCV000644779 View all (35 more)	★★★★★ ★★★★★ 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)

Show/Hide Unknown Diseases (41)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
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
CONGENITAL SHORT QT SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (135)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Andersen Syndrome	Andersen Syndrome	CLINVAR_DG	11371347, 12086641, 12148092, 12163457, 12796536, 12909315, 14522976, 15911703, 16217063, 16818210, 17074642, 17074643, 17119796, 17211524, 17221872 View all (16 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Andersen Syndrome	Andersen Syndrome	UNIPROT_DG	11371347, 12148092, 12163457, 16571646, 17324964		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Andersen Syndrome	Andersen Syndrome	LHGDN	12032359, 12148092, 12163457, 16541386, 17324964, 18690034		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Andersen Syndrome	Andersen Syndrome	BEFREE	12045162, 12148092, 12163457, 12689820, 12796536, 14522976, 15176421, 15176430, 15276028, 15466642, 15911703, 15922306, 16217063, 16500306, 16541386 View all (45 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Andersen Syndrome	Andersen-tawil syndrome	Pubtator	12148092, 14522976, 17119796, 17341397, 21148745, 21703452, 22166941, 23516313, 24047492, 24861851, 26109178, 28315637, 28336205, 29017447, 30516532 View all (11 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Andersen Syndrome	Andersen Syndrome	GENOMICS_ENGLAND_DG	12163457, 12796536, 16217063, 25691870, 27761157		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Andersen Syndrome	Andersen Syndrome	ORPHANET_DG	16571646		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Andersen Syndrome	Andersen Syndrome	CTD_human_DG	17399643, 19931173		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Andersen-Tawil syndrome	Andersen Tawil Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	12148092, 17341397, 24047492, 24561538, 24861851, 35762211, 39969299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arsenic Encephalopathy	Arsenic Encephalopathy	CTD_human_DG	16835338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	22342860	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	15922306, 16887036, 21555883, 23440193, 24460807, 28609477, 31270966		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	LHGDN	15922306		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial fibrillation	Pubtator	20657029, 23440193, 24460807, 28609477, 28711067, 34332113	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	GENOMICS_ENGLAND_DG	25691870		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial fibrillation	Pubtator	31270966	Stimulate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	Atrial Fibrillation	ORPHANET_DG	15922306		★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRIAL FIBRILLATION, FAMILIAL, 9	Atrial Fibrillation	GENOMICS_ENGLAND_DG	12163457, 25691870, 27761157		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATRIAL FIBRILLATION, FAMILIAL, 9	Atrial Fibrillation	UNIPROT_DG	15922306		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATRIAL FIBRILLATION, FAMILIAL, 9	Atrial Fibrillation	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATRIAL FIBRILLATION, FAMILIAL, 9	Atrial Fibrillation	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Atrioventricular Block	Atrioventricular block	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	30304693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	12148092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharophimosis	Blepharophimosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	26230511	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26710323		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	26710323, 35762211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	26710323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37061738	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	37184279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	22166941		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	26503814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronobiology Disorders	Chronobiology disorder	Pubtator	32328155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	12148092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	BEFREE	17119796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	BEFREE	17119796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33668367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	17341397, 24861851	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	19603079	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	16835338		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	28804970	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	Pubtator	37184279	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	12045162, 16541386, 17211524, 17341397, 21493816, 22589293, 24861851, 26103554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	Pubtator	29863285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	29863285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29863285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial atrial fibrillation	Atrial Fibrillation	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial Periodic Paralysis	Periodic Paralysis	BEFREE	12045162, 12148092, 16541386, 17211524, 17324964, 17341397, 21493816, 24849934, 24861851, 26103554		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Periodic Paralysis	Periodic Paralysis	LHGDN	12045162		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Periodic Paralysis	Periodic Paralysis	GENOMICS_ENGLAND_DG	16217063		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial short QT syndrome	Short QT Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gingival Hyperplasia	Gingival diseases	Pubtator	39257002	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type IV	Glycogen storage disease	Pubtator	19570891, 29813186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	24849934, 28008586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	17119796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	14642002		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32541000	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis	Hypokalemic Periodic Paralysis	BEFREE	29606556, 31483760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypokalemic periodic paralysis type 1	Hypokalemic Periodic Paralysis	BEFREE	29606556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypokalemic Periodic Paralysis, Type 2	Hypokalemic Periodic Paralysis	GENOMICS_ENGLAND_DG	16217063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	32184906	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	26663529		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	28930970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	28930970	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	39969299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	12741719, 14642002, 15276028, 20809527, 21875779, 24383070, 28003625		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT Syndrome	Long qt syndrome	Pubtator	19029296, 19305409, 20809527, 22342860, 24561134, 28003625, 29326130, 39969299, 40159220	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Long QT Syndrome	Long qt syndrome	Pubtator	37061738	Stimulate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	39290707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25880778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	BEFREE	17119796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	Pubtator	17119796	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	39290707	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic dysplastic kidney	Pubtator	12148092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	35762211	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	14522976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10103089, 9535729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	27116676	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	21179278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Paralysis Hyperkalemic Periodic	Paralysis	Pubtator	33345742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodic hypokalemic paresis	Periodic hypokalemic paresis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
periodic paralysis (finding)	Periodic Paralysis	BEFREE	12148092, 16541386, 17211524, 17324964, 17341397, 21493816, 24849934, 24861851, 26103554		★★★★★ ★☆☆☆☆ Found in Text Mining only
periodic paralysis (finding)	Periodic Paralysis	GENOMICS_ENGLAND_DG	16217063		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymorphic catecholergic ventricular tachycardia	Polymorphic catecholaminergic ventricular tachycardia	Pubtator	21148745, 23595086, 24561538, 34557911, 35892314	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	39324181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	12148092, 24023777	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Short Qt Syndrome	Short QT Syndrome	BEFREE	15761194, 16226079, 22155372, 22308236, 28592292, 28609477, 29290967, 31194727		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short QT Syndrome 1	Short QT Syndrome	ORPHANET_DG	15761194		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short QT Syndrome 1	Short qt syndrome	Pubtator	28592292, 28609477, 32328155, 34557911, 39769116	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT QT SYNDROME 2 (disorder)	Short QT Syndrome	BEFREE	23677719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Short QT Syndrome 3	Short QT Syndrome	CLINVAR_DG	11371347, 12086641, 12148092, 12163457, 12796536, 12909315, 14522976, 15911703, 16217063, 16818210, 17119796, 17211524, 17221872, 17341397, 17568571 View all (13 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short QT Syndrome 3	Short QT Syndrome	GENOMICS_ENGLAND_DG	12163457, 25691870, 27761157		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short QT Syndrome 3	Short QT Syndrome	BEFREE	15761194, 23440193, 23677719, 29290967		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short QT Syndrome 3	Short QT Syndrome	UNIPROT_DG	15761194		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short QT Syndrome 3	Short qt syndrome	Pubtator	23440193, 28711067, 39769116	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short QT Syndrome 3	Short QT Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sick Sinus Syndrome 1 Autosomal Recessive	Sick sinus syndrome	Pubtator	32328155	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Sleep apnea	Pubtator	17119796, 27543307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	17119796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	25880778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Supraventricular tachycardia	Supraventricular tachycardia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndactyly	Syndactyly	Pubtator	12148092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	17341397, 21148745, 24561538, 26710323, 39969299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	15851159, 17582433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	CTD_human_DG	17546530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	21179278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	34212982	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	34212982	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyrotoxic periodic paralysis	Thyrotoxic Periodic Paralysis	BEFREE	22863731, 24849934, 26935888, 28008586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	BEFREE	28315637		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	24383070, 24861851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	12045162, 12148092, 12163457, 15851159, 17221872, 22589293, 24047492, 24561538, 24861851, 25496985		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	26710323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	BEFREE	21875779, 22739561		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	23440193, 24427266, 32328155	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ventricular Premature Complexes	Ventricular ectopy	Pubtator	32328155, 39969299	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	BEFREE	19843922, 21148745, 22589293, 24025405, 24561538, 30615235		★★★★★ ★☆☆☆☆ Found in Text Mining only
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder)	Catecholaminergic polymorphic ventricular tachycardia	GENOMICS_ENGLAND_DG	27761157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular tachycardia, polymorphic	Ventricular tachycardia	BEFREE	15851159		★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNJ2 (potassium inwardly rectifying channel subfamily J member 2)