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

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	3767
Gene name	Potassium inwardly rectifying channel subfamily J member 11
Gene symbol	KCNJ11
Synonyms (NCBI Gene)	BIRHHF2IKATPKIR6.2MODY13PHHIPNDM2TNDM3
Chromosome	11
Chromosome location	11p15.1
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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs5219	T>A,C,G	Likely-benign, benign, risk-factor, drug-response, benign-likely-benign	Intron variant, missense variant, 5 prime UTR variant, stop gained, coding sequence variant
rs28936678	A>G	Pathogenic	Coding sequence variant, missense variant
rs74162102	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs74339576	C>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs80356610	A>G	Pathogenic	Missense variant, coding sequence variant, intron variant
rs80356611	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs80356613	C>G,T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs80356615	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs80356616	C>T	Pathogenic	Missense variant, coding sequence variant, intron variant
rs80356617	A>C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs80356618	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs80356620	T>G	Pathogenic	Missense variant, coding sequence variant
rs80356621	T>C	Pathogenic	Missense variant, coding sequence variant
rs80356622	C>G	Pathogenic	Missense variant, coding sequence variant
rs80356624	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs80356625	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894236	G>A,T	Pathogenic, likely-benign	5 prime UTR variant, coding sequence variant, intron variant, synonymous variant, stop gained
rs104894237	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894248	T>C	Pathogenic	Missense variant, coding sequence variant
rs116392938	G>A	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs193922565	A>G	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs193929333	A>C,G	Pathogenic	Coding sequence variant, intron variant, missense variant
rs193929337	T>C	Pathogenic	Coding sequence variant, intron variant, missense variant
rs193929348	T>C	Pathogenic	Coding sequence variant, missense variant
rs193929352	A>G	Pathogenic	Coding sequence variant, missense variant
rs193929353	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs193929355	C>T	Pathogenic	Coding sequence variant, missense variant
rs193929356	T>A,C	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs193929357	A>T	Pathogenic	Coding sequence variant, missense variant
rs193929358	C>T	Pathogenic	Coding sequence variant, missense variant
rs267607196	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs375848765	G>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs377091338	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs387906398	C>A	Pathogenic	5 prime UTR variant, intron variant
rs387906783	A>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, intron variant
rs529946415	A>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, intron variant
rs539975714	C>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	5 prime UTR variant, intron variant
rs547932593	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Intron variant, 5 prime UTR variant
rs587783669	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs587783670	G>C,T	Pathogenic	Coding sequence variant, missense variant
rs587783671	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs587783672	C>T	Pathogenic	Coding sequence variant, missense variant
rs587783673	C>T	Pathogenic	Coding sequence variant, missense variant
rs587783674	G>C	Pathogenic	Coding sequence variant, missense variant, intron variant
rs587783675	A>G	Pathogenic	Coding sequence variant, missense variant
rs750414160	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs752507753	G>A	Uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs766891274	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs780957825	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs797045637	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant
rs879253757	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs954727530	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1057518775	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1337406718	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1371185696	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1404429785	C>T	Pathogenic	Coding sequence variant, missense variant
rs1554901596	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1554901690	->GATGATC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554901718	->T	Uncertain-significance, likely-pathogenic	Coding sequence variant, frameshift variant
rs1554901775	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554901822	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554901829	AAGG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554901854	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1564865232	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1564865302	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1591695840	A>G	Likely-pathogenic	Missense variant, coding sequence variant

545

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miRTarBase ID	miRNA	Experiments	Reference
MIRT616628	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT616627	hsa-miR-5193	HITS-CLIP	19536157
MIRT616626	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT616625	hsa-miR-221-5p	HITS-CLIP	19536157
MIRT616624	hsa-miR-8073	HITS-CLIP	19536157
MIRT616623	hsa-miR-1914-5p	HITS-CLIP	19536157
MIRT616622	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT616621	hsa-miR-4720-5p	HITS-CLIP	19536157
MIRT616620	hsa-miR-4799-3p	HITS-CLIP	19536157
MIRT616619	hsa-miR-5588-5p	HITS-CLIP	19536157
MIRT616618	hsa-miR-6889-3p	HITS-CLIP	19536157
MIRT616617	hsa-miR-1271-3p	HITS-CLIP	19536157
MIRT616616	hsa-miR-550a-3-5p	HITS-CLIP	19536157
MIRT616615	hsa-miR-550a-5p	HITS-CLIP	19536157
MIRT616614	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT616613	hsa-miR-4279	HITS-CLIP	19536157
MIRT616612	hsa-miR-4642	HITS-CLIP	19536157
MIRT616611	hsa-miR-550b-2-5p	HITS-CLIP	19536157
MIRT616610	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT616629	hsa-miR-6779-3p	HITS-CLIP	23824327
MIRT616628	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT616627	hsa-miR-5193	HITS-CLIP	23824327
MIRT616626	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT616625	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT616624	hsa-miR-8073	HITS-CLIP	23824327
MIRT616623	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT616622	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT616621	hsa-miR-4720-5p	HITS-CLIP	23824327
MIRT616620	hsa-miR-4799-3p	HITS-CLIP	23824327
MIRT616619	hsa-miR-5588-5p	HITS-CLIP	23824327
MIRT616618	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT646978	hsa-miR-1233-3p	HITS-CLIP	23824327
MIRT646977	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT616617	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT616616	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT616615	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT616614	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT616613	hsa-miR-4279	HITS-CLIP	23824327
MIRT616612	hsa-miR-4642	HITS-CLIP	23824327
MIRT616611	hsa-miR-550b-2-5p	HITS-CLIP	23824327
MIRT488963	hsa-miR-4673	HITS-CLIP	23824327
MIRT616610	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT616629	hsa-miR-6779-3p	HITS-CLIP	23824327
MIRT616628	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT616627	hsa-miR-5193	HITS-CLIP	23824327
MIRT616626	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT616625	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT616624	hsa-miR-8073	HITS-CLIP	23824327
MIRT616623	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT616622	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT616621	hsa-miR-4720-5p	HITS-CLIP	23824327
MIRT616620	hsa-miR-4799-3p	HITS-CLIP	23824327
MIRT616619	hsa-miR-5588-5p	HITS-CLIP	23824327
MIRT616618	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT616617	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT616616	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT616615	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT616614	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT616613	hsa-miR-4279	HITS-CLIP	23824327
MIRT616612	hsa-miR-4642	HITS-CLIP	23824327
MIRT616611	hsa-miR-550b-2-5p	HITS-CLIP	23824327
MIRT616610	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	20371350
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	20371350
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	20371350
MIRT488966	hsa-miR-4514	PAR-CLIP	20371350
MIRT488964	hsa-miR-4692	PAR-CLIP	20371350
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	20371350
MIRT488963	hsa-miR-4673	PAR-CLIP	20371350
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	20371350
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	20371350
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	20371350
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	20371350
MIRT488966	hsa-miR-4514	PAR-CLIP	20371350
MIRT488964	hsa-miR-4692	PAR-CLIP	20371350
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	20371350
MIRT488963	hsa-miR-4673	PAR-CLIP	20371350
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	20371350
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	20371350
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	20371350
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	20371350
MIRT488966	hsa-miR-4514	PAR-CLIP	20371350
MIRT488964	hsa-miR-4692	PAR-CLIP	20371350
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	20371350
MIRT488963	hsa-miR-4673	PAR-CLIP	20371350
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	20371350
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	20371350
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	20371350
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	20371350
MIRT488966	hsa-miR-4514	PAR-CLIP	20371350
MIRT488964	hsa-miR-4692	PAR-CLIP	20371350
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	20371350
MIRT488963	hsa-miR-4673	PAR-CLIP	20371350
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	20371350
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	22012620
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	22012620
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	22012620
MIRT488966	hsa-miR-4514	PAR-CLIP	22012620
MIRT488964	hsa-miR-4692	PAR-CLIP	22012620
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	22012620
MIRT488963	hsa-miR-4673	PAR-CLIP	22012620
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	22012620
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	23446348
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	23446348
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	23446348
MIRT488966	hsa-miR-4514	PAR-CLIP	23446348
MIRT488964	hsa-miR-4692	PAR-CLIP	23446348
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	23446348
MIRT488963	hsa-miR-4673	PAR-CLIP	23446348
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	23592263
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	23592263
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	23592263
MIRT488966	hsa-miR-4514	PAR-CLIP	23592263
MIRT488964	hsa-miR-4692	PAR-CLIP	23592263
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	23592263
MIRT488963	hsa-miR-4673	PAR-CLIP	23592263
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	23592263
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	26701625
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	26701625
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	26701625
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	26701625
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	26701625
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	26701625
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	26701625
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	26701625
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	26701625
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	26701625
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	26701625
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	26701625
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	26701625
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	26701625
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	26701625
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	26701625
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	26701625
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	26701625
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	26701625
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	26701625
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	26701625
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	26701625
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	26701625
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	26701625
MIRT488966	hsa-miR-4514	PAR-CLIP	26701625
MIRT488966	hsa-miR-4514	PAR-CLIP	26701625
MIRT488966	hsa-miR-4514	PAR-CLIP	26701625
MIRT488966	hsa-miR-4514	PAR-CLIP	26701625
MIRT488966	hsa-miR-4514	PAR-CLIP	26701625
MIRT488966	hsa-miR-4514	PAR-CLIP	26701625
MIRT488966	hsa-miR-4514	PAR-CLIP	26701625
MIRT488966	hsa-miR-4514	PAR-CLIP	26701625
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	26701625
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	26701625
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	26701625
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	26701625
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	26701625
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	26701625
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	26701625
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	26701625
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	26701625
MIRT488963	hsa-miR-4673	PAR-CLIP	26701625
MIRT488963	hsa-miR-4673	PAR-CLIP	26701625
MIRT488963	hsa-miR-4673	PAR-CLIP	26701625
MIRT488963	hsa-miR-4673	PAR-CLIP	26701625
MIRT488963	hsa-miR-4673	PAR-CLIP	26701625
MIRT488963	hsa-miR-4673	PAR-CLIP	26701625
MIRT488963	hsa-miR-4673	PAR-CLIP	26701625
MIRT488963	hsa-miR-4673	PAR-CLIP	26701625
MIRT488963	hsa-miR-4673	PAR-CLIP	26701625
MIRT488964	hsa-miR-4692	PAR-CLIP	26701625
MIRT488964	hsa-miR-4692	PAR-CLIP	26701625
MIRT488964	hsa-miR-4692	PAR-CLIP	26701625
MIRT488964	hsa-miR-4692	PAR-CLIP	26701625
MIRT488964	hsa-miR-4692	PAR-CLIP	26701625
MIRT488964	hsa-miR-4692	PAR-CLIP	26701625
MIRT488964	hsa-miR-4692	PAR-CLIP	26701625
MIRT488964	hsa-miR-4692	PAR-CLIP	26701625
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	26701625
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	26701625
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	26701625
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	26701625
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	26701625
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	26701625
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	26701625
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	26701625
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	27292025
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	27292025
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	27292025
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	27292025
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	27292025
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	27292025
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	27292025
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	27292025
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	27292025
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	27292025
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	27292025
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	27292025
MIRT488966	hsa-miR-4514	PAR-CLIP	27292025
MIRT488966	hsa-miR-4514	PAR-CLIP	27292025
MIRT488966	hsa-miR-4514	PAR-CLIP	27292025
MIRT488966	hsa-miR-4514	PAR-CLIP	27292025
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	27292025
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	27292025
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	27292025
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	27292025
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	27292025
MIRT488963	hsa-miR-4673	PAR-CLIP	27292025
MIRT488963	hsa-miR-4673	PAR-CLIP	27292025
MIRT488963	hsa-miR-4673	PAR-CLIP	27292025
MIRT488963	hsa-miR-4673	PAR-CLIP	27292025
MIRT488963	hsa-miR-4673	PAR-CLIP	27292025
MIRT488964	hsa-miR-4692	PAR-CLIP	27292025
MIRT488964	hsa-miR-4692	PAR-CLIP	27292025
MIRT488964	hsa-miR-4692	PAR-CLIP	27292025
MIRT488964	hsa-miR-4692	PAR-CLIP	27292025
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	27292025
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	27292025
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	27292025
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	27292025
MIRT616628	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT616627	hsa-miR-5193	HITS-CLIP	19536157
MIRT616626	hsa-miR-660-3p	HITS-CLIP	19536157
MIRT616625	hsa-miR-221-5p	HITS-CLIP	19536157
MIRT616624	hsa-miR-8073	HITS-CLIP	19536157
MIRT616623	hsa-miR-1914-5p	HITS-CLIP	19536157
MIRT616622	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT616621	hsa-miR-4720-5p	HITS-CLIP	19536157
MIRT616620	hsa-miR-4799-3p	HITS-CLIP	19536157
MIRT616619	hsa-miR-5588-5p	HITS-CLIP	19536157
MIRT616618	hsa-miR-6889-3p	HITS-CLIP	19536157
MIRT616617	hsa-miR-1271-3p	HITS-CLIP	19536157
MIRT616616	hsa-miR-550a-3-5p	HITS-CLIP	19536157
MIRT616615	hsa-miR-550a-5p	HITS-CLIP	19536157
MIRT616614	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT616613	hsa-miR-4279	HITS-CLIP	19536157
MIRT616612	hsa-miR-4642	HITS-CLIP	19536157
MIRT616611	hsa-miR-550b-2-5p	HITS-CLIP	19536157
MIRT616610	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT616629	hsa-miR-6779-3p	HITS-CLIP	23824327
MIRT616628	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT616627	hsa-miR-5193	HITS-CLIP	23824327
MIRT616626	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT616625	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT616624	hsa-miR-8073	HITS-CLIP	23824327
MIRT616623	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT616622	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT616621	hsa-miR-4720-5p	HITS-CLIP	23824327
MIRT616620	hsa-miR-4799-3p	HITS-CLIP	23824327
MIRT616619	hsa-miR-5588-5p	HITS-CLIP	23824327
MIRT616618	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT646978	hsa-miR-1233-3p	HITS-CLIP	23824327
MIRT646977	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT616617	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT616616	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT616615	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT616614	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT616613	hsa-miR-4279	HITS-CLIP	23824327
MIRT616612	hsa-miR-4642	HITS-CLIP	23824327
MIRT616611	hsa-miR-550b-2-5p	HITS-CLIP	23824327
MIRT488963	hsa-miR-4673	HITS-CLIP	23824327
MIRT616610	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT616629	hsa-miR-6779-3p	HITS-CLIP	23824327
MIRT616628	hsa-miR-339-5p	HITS-CLIP	23824327
MIRT616627	hsa-miR-5193	HITS-CLIP	23824327
MIRT616626	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT616625	hsa-miR-221-5p	HITS-CLIP	23824327
MIRT616624	hsa-miR-8073	HITS-CLIP	23824327
MIRT616623	hsa-miR-1914-5p	HITS-CLIP	23824327
MIRT616622	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT616621	hsa-miR-4720-5p	HITS-CLIP	23824327
MIRT616620	hsa-miR-4799-3p	HITS-CLIP	23824327
MIRT616619	hsa-miR-5588-5p	HITS-CLIP	23824327
MIRT616618	hsa-miR-6889-3p	HITS-CLIP	23824327
MIRT616617	hsa-miR-1271-3p	HITS-CLIP	23824327
MIRT616616	hsa-miR-550a-3-5p	HITS-CLIP	23824327
MIRT616615	hsa-miR-550a-5p	HITS-CLIP	23824327
MIRT616614	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT616613	hsa-miR-4279	HITS-CLIP	23824327
MIRT616612	hsa-miR-4642	HITS-CLIP	23824327
MIRT616611	hsa-miR-550b-2-5p	HITS-CLIP	23824327
MIRT616610	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	20371350
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	20371350
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	20371350
MIRT488966	hsa-miR-4514	PAR-CLIP	20371350
MIRT488964	hsa-miR-4692	PAR-CLIP	20371350
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	20371350
MIRT488963	hsa-miR-4673	PAR-CLIP	20371350
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	20371350
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	20371350
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	20371350
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	20371350
MIRT488966	hsa-miR-4514	PAR-CLIP	20371350
MIRT488964	hsa-miR-4692	PAR-CLIP	20371350
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	20371350
MIRT488963	hsa-miR-4673	PAR-CLIP	20371350
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	20371350
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	20371350
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	20371350
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	20371350
MIRT488966	hsa-miR-4514	PAR-CLIP	20371350
MIRT488964	hsa-miR-4692	PAR-CLIP	20371350
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	20371350
MIRT488963	hsa-miR-4673	PAR-CLIP	20371350
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	20371350
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	20371350
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	20371350
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	20371350
MIRT488966	hsa-miR-4514	PAR-CLIP	20371350
MIRT488964	hsa-miR-4692	PAR-CLIP	20371350
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	20371350
MIRT488963	hsa-miR-4673	PAR-CLIP	20371350
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	20371350
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	22012620
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	22012620
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	22012620
MIRT488966	hsa-miR-4514	PAR-CLIP	22012620
MIRT488964	hsa-miR-4692	PAR-CLIP	22012620
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	22012620
MIRT488963	hsa-miR-4673	PAR-CLIP	22012620
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	22012620
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	23446348
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	23446348
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	23446348
MIRT488966	hsa-miR-4514	PAR-CLIP	23446348
MIRT488964	hsa-miR-4692	PAR-CLIP	23446348
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	23446348
MIRT488963	hsa-miR-4673	PAR-CLIP	23446348
MIRT488969	hsa-miR-2682-5p	PAR-CLIP	23592263
MIRT488968	hsa-miR-34b-5p	PAR-CLIP	23592263
MIRT488967	hsa-miR-449c-5p	PAR-CLIP	23592263
MIRT488966	hsa-miR-4514	PAR-CLIP	23592263
MIRT488964	hsa-miR-4692	PAR-CLIP	23592263
MIRT488965	hsa-miR-4645-5p	PAR-CLIP	23592263
MIRT488963	hsa-miR-4673	PAR-CLIP	23592263
MIRT488962	hsa-miR-548au-3p	PAR-CLIP	23592263
MIRT1081244	hsa-let-7a	CLIP-seq
MIRT1081245	hsa-let-7b	CLIP-seq
MIRT1081246	hsa-let-7c	CLIP-seq
MIRT1081247	hsa-let-7d	CLIP-seq
MIRT1081248	hsa-let-7e	CLIP-seq
MIRT1081249	hsa-let-7f	CLIP-seq
MIRT1081250	hsa-let-7g	CLIP-seq
MIRT1081251	hsa-let-7i	CLIP-seq
MIRT1081252	hsa-miR-1184	CLIP-seq
MIRT1081253	hsa-miR-1205	CLIP-seq
MIRT1081254	hsa-miR-1266	CLIP-seq
MIRT1081255	hsa-miR-1296	CLIP-seq
MIRT1081256	hsa-miR-188-3p	CLIP-seq
MIRT1081257	hsa-miR-1910	CLIP-seq
MIRT1081258	hsa-miR-202	CLIP-seq
MIRT1081259	hsa-miR-2114	CLIP-seq
MIRT1081260	hsa-miR-3064-5p	CLIP-seq
MIRT1081261	hsa-miR-3074-5p	CLIP-seq
MIRT1081262	hsa-miR-3143	CLIP-seq
MIRT1081263	hsa-miR-3158-5p	CLIP-seq
MIRT1081264	hsa-miR-3169	CLIP-seq
MIRT1081265	hsa-miR-3189-3p	CLIP-seq
MIRT1081266	hsa-miR-3622a-3p	CLIP-seq
MIRT1081267	hsa-miR-3622b-3p	CLIP-seq
MIRT1081268	hsa-miR-3649	CLIP-seq
MIRT1081269	hsa-miR-3652	CLIP-seq
MIRT1081270	hsa-miR-3663-3p	CLIP-seq
MIRT1081271	hsa-miR-3682-5p	CLIP-seq
MIRT1081272	hsa-miR-3688-5p	CLIP-seq
MIRT1081273	hsa-miR-370	CLIP-seq
MIRT1081274	hsa-miR-3714	CLIP-seq
MIRT1081275	hsa-miR-412	CLIP-seq
MIRT1081276	hsa-miR-4264	CLIP-seq
MIRT1081277	hsa-miR-4270	CLIP-seq
MIRT1081278	hsa-miR-4291	CLIP-seq
MIRT1081279	hsa-miR-4310	CLIP-seq
MIRT1081280	hsa-miR-4324	CLIP-seq
MIRT1081281	hsa-miR-4329	CLIP-seq
MIRT1081282	hsa-miR-4430	CLIP-seq
MIRT1081283	hsa-miR-4441	CLIP-seq
MIRT1081284	hsa-miR-4446-3p	CLIP-seq
MIRT1081285	hsa-miR-4458	CLIP-seq
MIRT1081286	hsa-miR-4461	CLIP-seq
MIRT1081287	hsa-miR-4470	CLIP-seq
MIRT1081288	hsa-miR-4492	CLIP-seq
MIRT1081289	hsa-miR-4498	CLIP-seq
MIRT1081290	hsa-miR-4500	CLIP-seq
MIRT1081291	hsa-miR-4505	CLIP-seq
MIRT1081292	hsa-miR-4512	CLIP-seq
MIRT1081293	hsa-miR-4515	CLIP-seq
MIRT1081294	hsa-miR-4518	CLIP-seq
MIRT1081295	hsa-miR-455-3p	CLIP-seq
MIRT1081296	hsa-miR-4640-5p	CLIP-seq
MIRT1081297	hsa-miR-4649-3p	CLIP-seq
MIRT1081298	hsa-miR-4663	CLIP-seq
MIRT1081299	hsa-miR-4699-3p	CLIP-seq
MIRT1081300	hsa-miR-4712-5p	CLIP-seq
MIRT1081301	hsa-miR-4726-5p	CLIP-seq
MIRT1081302	hsa-miR-4729	CLIP-seq
MIRT1081303	hsa-miR-4768-3p	CLIP-seq
MIRT1081304	hsa-miR-532-3p	CLIP-seq
MIRT1081305	hsa-miR-543	CLIP-seq
MIRT1081306	hsa-miR-548an	CLIP-seq
MIRT1081307	hsa-miR-552	CLIP-seq
MIRT1081308	hsa-miR-579	CLIP-seq
MIRT1081309	hsa-miR-635	CLIP-seq
MIRT1081310	hsa-miR-762	CLIP-seq
MIRT1081311	hsa-miR-770-5p	CLIP-seq
MIRT1081312	hsa-miR-892b	CLIP-seq
MIRT1081313	hsa-miR-98	CLIP-seq
MIRT1081244	hsa-let-7a	CLIP-seq
MIRT1081245	hsa-let-7b	CLIP-seq
MIRT1081246	hsa-let-7c	CLIP-seq
MIRT1081247	hsa-let-7d	CLIP-seq
MIRT1081248	hsa-let-7e	CLIP-seq
MIRT1081249	hsa-let-7f	CLIP-seq
MIRT1081250	hsa-let-7g	CLIP-seq
MIRT1081251	hsa-let-7i	CLIP-seq
MIRT2020142	hsa-miR-1183	CLIP-seq
MIRT2020143	hsa-miR-1233	CLIP-seq
MIRT2020144	hsa-miR-1914	CLIP-seq
MIRT1081258	hsa-miR-202	CLIP-seq
MIRT2020145	hsa-miR-214	CLIP-seq
MIRT1081261	hsa-miR-3074-5p	CLIP-seq
MIRT1081262	hsa-miR-3143	CLIP-seq
MIRT2020146	hsa-miR-3144-5p	CLIP-seq
MIRT2020147	hsa-miR-3191	CLIP-seq
MIRT2020148	hsa-miR-338-3p	CLIP-seq
MIRT2020149	hsa-miR-3619-5p	CLIP-seq
MIRT1081270	hsa-miR-3663-3p	CLIP-seq
MIRT1081273	hsa-miR-370	CLIP-seq
MIRT2020150	hsa-miR-3975	CLIP-seq
MIRT1081281	hsa-miR-4329	CLIP-seq
MIRT1081285	hsa-miR-4458	CLIP-seq
MIRT1081286	hsa-miR-4461	CLIP-seq
MIRT1081290	hsa-miR-4500	CLIP-seq
MIRT2020151	hsa-miR-4530	CLIP-seq
MIRT1081297	hsa-miR-4649-3p	CLIP-seq
MIRT2020152	hsa-miR-4652-5p	CLIP-seq
MIRT1081298	hsa-miR-4663	CLIP-seq
MIRT2020153	hsa-miR-4687-5p	CLIP-seq
MIRT2020154	hsa-miR-4693-5p	CLIP-seq
MIRT1081302	hsa-miR-4729	CLIP-seq
MIRT1081305	hsa-miR-543	CLIP-seq
MIRT1081307	hsa-miR-552	CLIP-seq
MIRT2020155	hsa-miR-571	CLIP-seq
MIRT2020156	hsa-miR-761	CLIP-seq
MIRT1081313	hsa-miR-98	CLIP-seq
MIRT1081244	hsa-let-7a	CLIP-seq
MIRT1081245	hsa-let-7b	CLIP-seq
MIRT1081246	hsa-let-7c	CLIP-seq
MIRT1081247	hsa-let-7d	CLIP-seq
MIRT1081248	hsa-let-7e	CLIP-seq
MIRT1081249	hsa-let-7f	CLIP-seq
MIRT1081250	hsa-let-7g	CLIP-seq
MIRT1081251	hsa-let-7i	CLIP-seq
MIRT2020142	hsa-miR-1183	CLIP-seq
MIRT2020143	hsa-miR-1233	CLIP-seq
MIRT2251961	hsa-miR-15a	CLIP-seq
MIRT2251962	hsa-miR-15b	CLIP-seq
MIRT2251963	hsa-miR-16	CLIP-seq
MIRT2251964	hsa-miR-195	CLIP-seq
MIRT1081258	hsa-miR-202	CLIP-seq
MIRT2020145	hsa-miR-214	CLIP-seq
MIRT1081261	hsa-miR-3074-5p	CLIP-seq
MIRT1081262	hsa-miR-3143	CLIP-seq
MIRT2251965	hsa-miR-3180-5p	CLIP-seq
MIRT2020148	hsa-miR-338-3p	CLIP-seq
MIRT2020149	hsa-miR-3619-5p	CLIP-seq
MIRT2251966	hsa-miR-3622a-5p	CLIP-seq
MIRT1081270	hsa-miR-3663-3p	CLIP-seq
MIRT1081271	hsa-miR-3682-5p	CLIP-seq
MIRT1081273	hsa-miR-370	CLIP-seq
MIRT2020150	hsa-miR-3975	CLIP-seq
MIRT2251967	hsa-miR-424	CLIP-seq
MIRT2251968	hsa-miR-4269	CLIP-seq
MIRT1081278	hsa-miR-4291	CLIP-seq
MIRT1081279	hsa-miR-4310	CLIP-seq
MIRT2251969	hsa-miR-4323	CLIP-seq
MIRT1081281	hsa-miR-4329	CLIP-seq
MIRT1081285	hsa-miR-4458	CLIP-seq
MIRT1081286	hsa-miR-4461	CLIP-seq
MIRT1081290	hsa-miR-4500	CLIP-seq
MIRT2020151	hsa-miR-4530	CLIP-seq
MIRT1081297	hsa-miR-4649-3p	CLIP-seq
MIRT1081298	hsa-miR-4663	CLIP-seq
MIRT2251970	hsa-miR-4690-3p	CLIP-seq
MIRT2251971	hsa-miR-4691-3p	CLIP-seq
MIRT2020154	hsa-miR-4693-5p	CLIP-seq
MIRT1081299	hsa-miR-4699-3p	CLIP-seq
MIRT2251972	hsa-miR-4705	CLIP-seq
MIRT2251973	hsa-miR-4716-5p	CLIP-seq
MIRT1081302	hsa-miR-4729	CLIP-seq
MIRT2251974	hsa-miR-485-3p	CLIP-seq
MIRT2251975	hsa-miR-497	CLIP-seq
MIRT1081305	hsa-miR-543	CLIP-seq
MIRT1081307	hsa-miR-552	CLIP-seq
MIRT2251976	hsa-miR-564	CLIP-seq
MIRT1081308	hsa-miR-579	CLIP-seq
MIRT2020156	hsa-miR-761	CLIP-seq
MIRT2251977	hsa-miR-922	CLIP-seq
MIRT1081313	hsa-miR-98	CLIP-seq
MIRT1081256	hsa-miR-188-3p	CLIP-seq
MIRT1081261	hsa-miR-3074-5p	CLIP-seq
MIRT2020148	hsa-miR-338-3p	CLIP-seq
MIRT1081273	hsa-miR-370	CLIP-seq
MIRT1081297	hsa-miR-4649-3p	CLIP-seq
MIRT1081298	hsa-miR-4663	CLIP-seq
MIRT2389645	hsa-miR-485-5p	CLIP-seq
MIRT1081307	hsa-miR-552	CLIP-seq
MIRT2555240	hsa-miR-1255a	CLIP-seq
MIRT2555241	hsa-miR-1255b	CLIP-seq
MIRT2555242	hsa-miR-1470	CLIP-seq
MIRT2251961	hsa-miR-15a	CLIP-seq
MIRT2251962	hsa-miR-15b	CLIP-seq
MIRT2251963	hsa-miR-16	CLIP-seq
MIRT2555243	hsa-miR-1909	CLIP-seq
MIRT2555244	hsa-miR-194	CLIP-seq
MIRT2251964	hsa-miR-195	CLIP-seq
MIRT2020145	hsa-miR-214	CLIP-seq
MIRT2555245	hsa-miR-331-3p	CLIP-seq
MIRT2555246	hsa-miR-3591-3p	CLIP-seq
MIRT2020149	hsa-miR-3619-5p	CLIP-seq
MIRT2555247	hsa-miR-3620	CLIP-seq
MIRT2251967	hsa-miR-424	CLIP-seq
MIRT2555248	hsa-miR-4290	CLIP-seq
MIRT2555249	hsa-miR-4308	CLIP-seq
MIRT2555250	hsa-miR-4468	CLIP-seq
MIRT2555251	hsa-miR-4667-3p	CLIP-seq
MIRT2251975	hsa-miR-497	CLIP-seq
MIRT2020156	hsa-miR-761	CLIP-seq
MIRT2555240	hsa-miR-1255a	CLIP-seq
MIRT2555241	hsa-miR-1255b	CLIP-seq
MIRT2555242	hsa-miR-1470	CLIP-seq
MIRT2251961	hsa-miR-15a	CLIP-seq
MIRT2251962	hsa-miR-15b	CLIP-seq
MIRT2251963	hsa-miR-16	CLIP-seq
MIRT2555244	hsa-miR-194	CLIP-seq
MIRT2251964	hsa-miR-195	CLIP-seq
MIRT2020145	hsa-miR-214	CLIP-seq
MIRT2555245	hsa-miR-331-3p	CLIP-seq
MIRT2555246	hsa-miR-3591-3p	CLIP-seq
MIRT2020149	hsa-miR-3619-5p	CLIP-seq
MIRT2555247	hsa-miR-3620	CLIP-seq
MIRT2251967	hsa-miR-424	CLIP-seq
MIRT2555248	hsa-miR-4290	CLIP-seq
MIRT2555249	hsa-miR-4308	CLIP-seq
MIRT2555250	hsa-miR-4468	CLIP-seq
MIRT2555251	hsa-miR-4667-3p	CLIP-seq
MIRT2251975	hsa-miR-497	CLIP-seq
MIRT2020156	hsa-miR-761	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
HNF4A	Unknown	17894829

Show/Hide all (68)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001508	Process	Action potential	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0002931	Process	Response to ischemia	IEA
GO:0003229	Process	Ventricular cardiac muscle tissue development	IEA
GO:0005242	Function	Inward rectifier potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IDA	19805355
GO:0005515	Function	Protein binding	IPI	19805355, 32296183
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	ISS	12860923
GO:0005524	Function	ATP binding	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19805355
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8923010
GO:0006006	Process	Glucose metabolic process	IMP	8923010, 15115830
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006950	Process	Response to stress	IEA
GO:0008282	Component	Inward rectifying potassium channel	IDA	19805355, 20610380
GO:0008282	Component	Inward rectifying potassium channel	IEA
GO:0008282	Component	Inward rectifying potassium channel	IPI	29286281
GO:0008282	Component	Inward rectifying potassium channel	ISO
GO:0008282	Component	Inward rectifying potassium channel	ISS
GO:0008340	Process	Determination of adult lifespan	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IMP	18073297
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	IBA
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	IEA
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	ISS
GO:0015272	Function	ATP-activated inward rectifier potassium channel activity	NAS	28842488
GO:0016020	Component	Membrane	IEA
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	ISS
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	ISS
GO:0030506	Function	Ankyrin binding	IEA
GO:0030506	Function	Ankyrin binding	IPI	20610380
GO:0030955	Function	Potassium ion binding	TAS	8923010
GO:0031669	Process	Cellular response to nutrient levels	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033198	Process	Response to ATP	IDA	15583126, 18073297
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:0042391	Process	Regulation of membrane potential	IDA	18073297
GO:0044325	Function	Transmembrane transporter binding	IPI	20610380
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046676	Process	Negative regulation of insulin secretion	IMP	8923010
GO:0046872	Function	Metal ion binding	IEA
GO:0050796	Process	Regulation of insulin secretion	IMP	15115830
GO:0050796	Process	Regulation of insulin secretion	TAS
GO:0050877	Process	Nervous system process	IMP	15115830, 18073297
GO:0061762	Process	CAMKK-AMPK signaling cascade	IEA
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	NAS	28842488
GO:0098662	Process	Inorganic cation transmembrane transport	ISS
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA	18945825
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IEA
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	18945825
GO:0099508	Function	Voltage-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	18945825
GO:1904638	Process	Response to resveratrol	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IDA	19805355
GO:1990573	Process	Potassium ion import across plasma membrane	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	ISO
GO:1990573	Process	Potassium ion import across plasma membrane	ISS

MIM	HGNC	e!Ensembl
600937	6257	ENSG00000187486

Q14654

Protein name

ATP-sensitive inward rectifier potassium channel 11 (IKATP) (Inward rectifier K(+) channel Kir6.2) (Potassium channel, inwardly rectifying subfamily J member 11)

Protein function

Inward rectifier potassium channel that forms the pore of ATP-sensitive potassium channels (KATP), regulating potassium permeability as a function of cytoplasmic ATP and ADP concentrations in many different cells (PubMed:29286281, PubMed:3481534

PDB

6C3O , 6C3P , 7S5T , 7S5X , 7S5Y , 7S5Z , 7S60 , 7S61

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01007	IRK	36 → 174	Inward rectifier potassium channel transmembrane domain	Domain
PF17655	IRK_C	181 → 354	Inward rectifier potassium channel C-terminal domain	Domain

Sequence

MLSRKGIIPEEYVLTRLAEDPAEPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVF
TTLVDLKWPHTLLIFTMSFLCSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSA
FLFSIEVQVTIGFGGRMVTEECPLAILILIVQNIVGLMINAIMLGCIFMKTAQAHRRAET
LIFSKHAVIALRHGRLCFMLRVGDLRKSMIISATIHMQVVRKTTSPEGEVVPLHQVDIPM
ENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQDLEIIVILEGVVETTGITTQA
RTSYLADEILWGQRFVPIVAEEDGRYSVDYSKFGNTIKVPTPLCTARQLDEDHSLLEALT
LASARGPLRKRSVPMAKAKPKFSISPDSLS

Sequence length

390

Interactions

View interactions

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 (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Atopic eczema	Likely pathogenic	rs1057518775	RCV000415398	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes	Likely pathogenic; Pathogenic	rs80356611	RCV004798749	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes mellitus	Pathogenic; Likely pathogenic	rs587783673, rs587783672, rs587783669, rs80356625, rs193929355	RCV000146117 RCV000146115 RCV000146107 RCV000146113 RCV000146122	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes mellitus, permanent neonatal 2	Likely pathogenic; Pathogenic	rs141145502, rs587783673, rs80356624, rs80356616, rs80356625, rs80356611, rs74339576, rs267607196, rs2496411976, rs766891274	RCV002501960 RCV003338421 RCV001089463 RCV000009201 RCV001089465 View all (6 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes mellitus, transient neonatal, 3	Likely pathogenic; Pathogenic	rs141145502, rs587783672, rs80356624, rs80356625, rs80356613, rs74339576, rs267607196, rs766891274, rs954727530, rs1371185696	RCV002501960 RCV001329964 RCV000009200 RCV001530196 RCV000009219 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hyperinsulinism	Likely pathogenic; Pathogenic	rs1554901747, rs775204908, rs377091338, rs1479483693, rs267607196, rs954727530, rs1371185696	RCV005912928 RCV005432803 RCV005925571 RCV005238142 RCV005417424 RCV005431867 RCV005901446 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinemia	Pathogenic; Likely pathogenic	rs80356624, rs1057518775	RCV002227021 RCV000415398	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperinsulinemic hypoglycemia, familial, 2	Likely pathogenic; Pathogenic	rs1554901747, rs141145502, rs797045637, rs104894237, rs74339576, rs267607196, rs2496407300, rs766891274, rs954727530, rs1371185696	RCV001506970 RCV002501960 RCV000194466 RCV000009210 RCV000009220 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypertrichosis	Likely pathogenic	rs1057518775	RCV000415398	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoglycemia	Likely pathogenic	rs1057518775	RCV000415398	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
KCNJ11-related disorder	Likely pathogenic; Pathogenic	rs775204908, rs80356616, rs80356611	RCV003336445 RCV005867735 RCV003335022	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maturity-onset diabetes of the young	Likely pathogenic; Pathogenic	rs587783672, rs80356625, rs104894237, rs74339576, rs267607196, rs1371185696	RCV002227076 RCV002227023 RCV002226640 RCV002227030 RCV002226646 RCV002227197 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maturity-onset diabetes of the young type 13	Likely pathogenic; Pathogenic	rs1554901747, rs141145502, rs587783672, rs74339576, rs267607196, rs766891274, rs1564865302	RCV004719070 RCV002501960 RCV000170299 RCV005042016 RCV000763231 RCV002481620 RCV000754813 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monogenic diabetes	Likely pathogenic; Pathogenic	rs954727530	RCV002225111	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal diabetes mellitus	Likely pathogenic; Pathogenic	rs115716690, rs2133379609, rs193929358, rs587783672, rs80356624, rs80356616, rs80356625, rs80356611	RCV002052018 RCV002052019 RCV002052020 RCV002051813 RCV002051777 RCV002051778 RCV002051779 RCV000030103 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal insulin-dependent diabetes mellitus	Pathogenic; Likely pathogenic	rs587783670, rs587783674, rs80356624, rs80356616, rs193929356	RCV000146108 RCV000146121 RCV000146114 RCV000146104 RCV000146124	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Permanent neonatal diabetes mellitus	Likely pathogenic; Pathogenic	rs141145502, rs2133380076, rs80356624, rs80356616, rs80356625, rs80356611, rs267607196, rs193929355, rs193929356	RCV001832822 RCV005922713 RCV000009198 RCV000030665 RCV000009202 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Permanent neonatal diabetes mellitus 1	Pathogenic; Likely pathogenic	rs74339576, rs954727530, rs1371185696	RCV005430458 RCV005430771 RCV005430432	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Transitory neonatal diabetes mellitus	Pathogenic	rs80356616, rs80356625, rs193929355	RCV002227022 RCV002227024 RCV002227047	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Type 2 diabetes mellitus	Likely pathogenic; Pathogenic	rs141145502, rs587783673, rs104894237, rs74339576, rs267607196, rs2496407839, rs2496409870, rs2496410962, rs2496408893, rs2496411567, rs2496407871, rs2496410564, rs2496409508, rs2496409024, rs1554901822, rs193929356, rs766891274, rs954727530 View all (3 more)	RCV002501960 RCV002226687 RCV003466840 RCV003460444 RCV000763231 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (37)

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.
AUTOSOMAL DOMINANT HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPERINSULINISM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEND syndrome	Conflicting classifications of pathogenicity	ClinVar Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DERMATITIS, ATOPIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes mellitus type 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 20	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NONINSULIN-DEPENDENT	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL, 2	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIAZOXIDE-RESISTANT FOCAL HYPERINSULINISM DUE TO KIR6.2 DEFICIENCY	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glibenclamide response	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinemic hypoglycemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism, Dominant/Recessive	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERMEDIATE DEND SYNDROME	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED PERMANENT NEONATAL DIABETES MELLITUS	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY ONSET DIABETES MELLITUS IN YOUNG	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-onset diabetes of the young type 3	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal hypoglycemia	Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
sulfonylureas response	drug response	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT NEONATAL DIABETES MELLITUS	—	ClinVar, Orphanet ClinVar, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient Neonatal Diabetes, Dominant	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Type 1 diabetes mellitus 20	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (224)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	29492846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29492846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety disorder	Pubtator	27086753	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	24222218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	30169531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	30169531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	11693772	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	24135527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	27555491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27555491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	30377186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	Hyperinsulinism	ORPHANET_DG	18596924, 25733449		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	Hyperinsulinism	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency	Hyperinsulinism	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	27173951		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	28057023, 30819803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG	18025464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cantu syndrome	Cantu syndrome	Pubtator	31119887	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	28057023, 30819803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	18504616, 24222218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17257281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	19345438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	30377186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	37777789, 39826584	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30209346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19578796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 4th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	18021373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34732776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	27223594	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	36273131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21602532	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	18021373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	15115830	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	11018078, 11228046, 11395395, 20943779, 20980454, 21411514, 21536946, 21716120, 21968111, 23266803, 23275527, 23345197, 23563683, 23665564, 23869231 View all (21 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	11395395, 17114887, 17316607, 17466004, 17942822, 17986831, 18250167, 18450771, 19254908, 20215776, 20432820, 20589481, 20685672, 20686794, 20980454 View all (29 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	CTD_human_DG	15579781		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	LHGDN	16332676		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	GENOMICS_ENGLAND_DG	24896178		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital hypoplasia of pancreas	Pancreatic hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	20628649	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	34385509, 35222579, 37175633	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	37175633	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	LHGDN	16455067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEND syndrome	DEND Syndrome	BEFREE	17652641, 19169493, 19686306, 22145471, 23382304, 24150202, 25678012, 27849623, 28480665		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEND syndrome	DEND Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEND syndrome	DEND Syndrome	GENOMICS_ENGLAND_DG	27181099		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEND syndrome	DEND Syndrome	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dermatitis, Atopic	Dermatitis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Delay, Epilepsy, and Neonatal Diabetes	Developmental delay	BEFREE	16670688, 17259376, 17652641, 18073297, 22145471, 23667671, 28943513		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Delay, Epilepsy, and Neonatal Diabetes	Developmental delay	ORPHANET_DG	17652641, 22145471, 22498247, 23382304, 24150202, 24912436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	15115830, 16609879, 19139106, 20022885, 27223594, 27555491, 28943513, 30092901, 34999583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	12540638, 15580558, 15718250, 15784703, 16416420, 16602010, 16609879, 16670688, 16731860, 16873704, 16885550, 17259403, 17490422, 17635943, 17894829 View all (39 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Complications	Diabetes complications	Pubtator	27802092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	30239167, 36313769, 37107681	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12540638, 15580558, 15718250, 15784703, 16416420, 16602010, 16609879, 16670688, 16731860, 16873704, 16885550, 17259403, 17490422, 17635943, 17894829 View all (46 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus	Diabetes Mellitus	LHGDN	15580558, 17213273, 17296510, 17446535, 17635943, 17890419, 17923772, 18544102, 18662362		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus	Diabetes mellitus	Pubtator	16268330, 16609879, 16885549, 16885550, 17213273, 17259403, 17446535, 18025464, 18073297, 18662362, 19656320, 19951851, 20194712, 20548773, 20929593 View all (46 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus	Diabetes Mellitus	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus Permanent Neonatal	Neonatal diabetes mellitus	Pubtator	15115830, 17213273, 17327377, 17446535, 17668386, 17728498, 18162506, 19496967, 19656320, 20220270, 21273495, 21544516, 22796691, 23050777, 23320570 View all (13 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Transient Neonatal 1	Diabetes mellitus transient neonatal	Pubtator	15115830, 16268330, 16609879, 16885549, 17327377, 17446535, 17728498, 18025408, 18073297, 18346985, 18497752, 18556340, 19139106, 19435956, 19951851 View all (37 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	21544516, 28938416, 29361385, 30467975, 36418577	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	14551916, 17020404, 17259403, 17463248, 18426861, 18598350, 18678618, 19020324, 19033397, 19368707, 19401414, 19491206, 19766903, 19862325, 20142250 View all (37 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	14988278, 15504982, 15580558, 16142506, 22573428, 22957706, 28938416, 29361385		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	18025464		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG	18025464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12540637, 12540638, 14722160, 15579791, 15784703, 15797964, 15842514, 16367885, 16595597, 16873704, 17020404, 17257281, 17259403, 17342155, 17431820 View all (76 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	16123366, 22209866		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	17463246, 17463248, 17463249, 18372903, 19056611, 22885922, 24509480, 28869590, 29632382, 30054458		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17463246, 17463248, 17463249, 18372903, 19056611, 21647700, 22158537, 22325160, 22885922, 23300278, 24509480		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	CLINVAR_DG	11395395, 12524280, 15562009, 17446535, 18250167, 20685672, 21422196, 21812132, 22311976, 23275527, 23345197, 27908292		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	UNIPROT_DG	15115830, 15292329, 15448106, 15448107, 15580558, 15583126, 16609879, 16731833, 17213273, 17652641, 17855752, 20022885, 28842488		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	BEFREE	15580558, 15583126, 15718250, 15864298, 16019717, 16602010, 17213273, 17668386, 18279778, 18662362, 19169493, 19351728, 20184447, 20466780, 20546268 View all (20 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	ORPHANET_DG	21844708, 22498247, 24150202, 24468099		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	GENOMICS_ENGLAND_DG	24896178, 27181099		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES	DIABETES MELLITUS, WITH NEUROLOGIC FEATURES	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG	18025464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Transient Neonatal, 1	Diabetes Mellitus	BEFREE	15718250, 17446535, 18497752		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Transient Neonatal, 1	Diabetes Mellitus	ORPHANET_DG	21352428, 21844708, 22498247		★★★★★ ★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)	Diabetes Mellitus	CLINVAR_DG	11395395, 12524280, 15562009, 17446535, 18250167, 20049716, 20589481, 20685672, 21422196, 21812132, 22311976, 23275527, 23345197, 24434300, 25639667, 27908292 View all (1 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)	Diabetes Mellitus	UNIPROT_DG	15718250, 15784703		★★★★★ ★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, TRANSIENT NEONATAL, 3 (disorder)	Diabetes Mellitus	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG	18025464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	LHGDN	15735229		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	17635943, 28173619, 30094785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic ketoacidosis	Pubtator	28173619, 31605659, 34566892, 39420905	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36314849	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30209346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	27253191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Polyneuropathies	Diabetic polyneuropathy	BEFREE	27253191		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	25573672, 30209346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	25573672, 35996512	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	LHGDN	15115830, 16670688, 17259376		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	15115830, 19139106, 20022885, 22694282, 23462667, 26268944, 28943513, 36097778	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	15718250, 16087682, 17635943, 17652641, 21210267, 26590798		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Generalized	Epilepsy	BEFREE	17047922		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	18021373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	21710463, 28962116, 31169684		★★★★★ ★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	18021373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35581384	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	15580558, 15718250, 16087682, 17047922, 17635943, 21210267, 27223594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Harlequin Fetus	Harlequin Ichthyosis	BEFREE	16429405, 20694718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	18504616, 19685080, 24222218, 25114062	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	LHGDN	12196481, 16732049, 18243136, 18290324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	20694718		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	CLINVAR_DG	21054355, 21210267, 22701567, 27033559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	23985558	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	BEFREE	20573158, 21536946, 21674179, 21978130, 22231386, 22308858, 25117148, 25231897, 25915078, 27173951		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinemic hypoglycemia, familial, 1	Hyperinsulinemic hypoglycemia	CTD_human_DG	15579781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia, familial, 2	Hyperinsulinemic hypoglycemia	UNIPROT_DG	10204114, 12364426, 15562009, 15579781, 15807877, 15998776, 16332676, 16357843, 18596924, 19357197, 7847376, 8923010		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinemic hypoglycemia, familial, 2	Hyperinsulinemic hypoglycemia	CLINVAR_DG	11395395, 12524280, 15562009, 17446535, 18250167, 20685672, 21422196, 21812132, 22311976, 23275527, 23345197, 27908292, 8923010		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinemic hypoglycemia, familial, 2	Hyperinsulinemic hypoglycemia	CTD_human_DG	15579781		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinemic hypoglycemia, familial, 2	Hyperinsulinemic hypoglycemia	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinism	Hyperinsulinism	BEFREE	10973248, 15579781, 16416420, 17919182, 18290324, 18767144, 20694718, 29034901		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism	Hyperinsulinism	LHGDN	15562009		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism	Hyperinsulinism	Pubtator	20049716, 20980454, 25555642, 29034901, 29493090, 31464105, 33502730, 33762279, 35674212	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism	Hyperinsulinism	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension	Hypertension	Pubtator	18504616, 21765448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	17257281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoglycemia	Hypoglycemia	LHGDN	12199344		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoglycemia	Hypoglycemia	BEFREE	16142506, 19214942, 20573158, 22591706, 25117148, 29205704, 29396966, 31464105		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoglycemia	Hypoglycemia	Pubtator	31464105, 35456451	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoglycemia	Hypoglycemia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoinsulinaemia (disorder)	Hypoinsulinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23462667	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intermediate DEND syndrome	DEND Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	18021373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	24421282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	22855734, 27555491, 34732776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	18569028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29108994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	11310586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	36410788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Affective Disorder 2	Major depressive disorder	Pubtator	21544516	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	25516658, 29098877		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	28057023, 30819803		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22532870, 28057023		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	19900242, 27103109, 28925365, 30086875, 30447144, 31638168		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	ORPHANET_DG	22701567		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13	Mason type diabetes	CLINVAR_DG	21054355, 21210267, 22701567, 27033559		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13	Mason type diabetes	UNIPROT_DG	22701567		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13	Mason type diabetes	BEFREE	28925365		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13	Mason type diabetes	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory Disorders	Memory disorders	Pubtator	30377186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	27086753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28352326, 28962121		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microvascular Angina	Microvascular angina	Pubtator	24068186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
MODY	Mason type diabetes	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Monogenic Diabetes	BEFREE	19692135, 25877689, 28938416, 29454299		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic diabetes	Monogenic Diabetes	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	20628649	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	14871556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	24068186	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	37175633	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	15115830, 15292329, 15580558, 15718250, 15784703, 16087682, 16339180, 16609879, 16613899, 16670688, 16731833, 16731836, 16925503, 17021801, 17047922 View all (65 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal diabetes mellitus	Diabetes Mellitus	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal diabetes mellitus	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nervous System Diseases	Nervous system disease	Pubtator	22855734	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	20712903, 25612568	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24460047		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	25516658		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28938416	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	36410788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Permanent neonatal diabetes mellitus	Diabetes Mellitus	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	17342155, 18958766, 22389004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	17342155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	22389004	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Secondary growth hormone deficiency	Growth Hormone Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	34732776	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	18021373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep apnea	Pubtator	30092901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	27555491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	32581184	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	37777789	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	39826584	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	18021373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Transient neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	18497752, 21352428, 21953423		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient neonatal diabetes mellitus	Diabetes Mellitus	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient neonatal diabetes mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	28705548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	18021373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin K Deficiency	Vitamin k deficiency	Pubtator	20396605	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	LHGDN	17890419		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolcott-Rallison syndrome	Wolcott-Rallison Syndrome	BEFREE	25306193		★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNJ11 (potassium inwardly rectifying channel subfamily J member 11)