GCK (glucokinase)

Gene

• Entrez ID: 2645
• Gene name: Glucokinase
• Gene symbol: GCK
• Synonyms (NCBI Gene): FGQTL3, GK, GLK, HHF3, HK4, HKIV, HXKP, LGLK, MODY2, PNDM1
• Chromosome: 7
• Chromosome location: 7p13
• Summary: This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to other forms of hexokinase, this enzyme is not inhibited b

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs77440690	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic upstream transcript variant
rs104894010	A>G	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs104894012	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894014	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894016	C>G,T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs193921338	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs193921340	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922259	T>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs193922261	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs193922262	C>A,G	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, 5 prime UTR variant
rs193922263	G>A	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs193922264	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant
rs193922265	G>A,C,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, 5 prime UTR variant
rs193922266	A>C,T	Likely-pathogenic, uncertain-significance	Initiator codon variant, coding sequence variant, missense variant
rs193922267	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922268	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs193922269	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs193922271	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922272	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922273	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs193922274	GAGACCAGGGCCGCGCCCCGGCCACTGCCCTCCTCCGACTCGATGAAGGTGATCTCGCAGCTGGGCGTCAGCCTGCGCAC>TGTAA	Likely-pathogenic	Coding sequence variant, inframe indel
rs193922275	GC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922277	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs193922278	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922279	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs193922280	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs193922281	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922282	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922283	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs193922284	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs193922286	G>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs193922287	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs193922289	C>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs193922290	T>A	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs193922291	T>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs193922292	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs193922295	G>-	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs193922296	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs193922297	A>G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs193922301	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs193922302	C>T	Likely-pathogenic	Synonymous variant, coding sequence variant, genic upstream transcript variant
rs193922308	G>C,T	Likely-pathogenic	Synonymous variant, missense variant, coding sequence variant, genic upstream transcript variant
rs193922325	A>C,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, genic upstream transcript variant
rs193922329	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs193929374	G>A,C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs193929375	C>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs267601516	C>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs556581174	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, stop gained, 5 prime UTR variant, synonymous variant
rs587780343	C>A,T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs753795627	A>C,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs758737171	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs759072800	C>G,T	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant
rs762263694	G>A	Pathogenic, pathogenic-likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs764232985	C>G,T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs777870079	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs780612692	G>A,T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, synonymous variant
rs781260712	C>A	Pathogenic	Genic upstream transcript variant, splice donor variant
rs794727236	C>T	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs797045595	GGATGGAGTACATCTGG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs876661320	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs878853246	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs886041690	->G	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs886042015	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1057520109	C>A,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1057521092	C>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1057521094	C>T	Pathogenic-likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1057524900	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057524901	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057524902	A>C,T	Pathogenic	Splice donor variant
rs1057524906	A>G	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1064793134	C>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1064793428	->GG	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1064793998	C>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1064794268	T>G	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1064795242	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064796410	A>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1131691416	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1131691483	C>A	Likely-pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1131691505	CAGCGCGCG>-	Uncertain-significance, likely-pathogenic	Inframe deletion, 5 prime UTR variant, coding sequence variant
rs1281712444	G>A	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs1286804191	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1350717554	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs1400535021	C>-,CC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1444739794	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1486280029	G>A,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554334433	->CCG	Pathogenic	Coding sequence variant, inframe insertion
rs1554334579	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554334610	AGCACATGTGCGCAGCG>-	Pathogenic	Initiator codon variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1554335564	A>G	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1554335566	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554335570	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554335585	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554335612	T>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554335616	G>C,T	Likely-pathogenic, uncertain-significance	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554335751	A>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554335752	A>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1554335761	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554335913	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs1554335954	A>C,G,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554335966	T>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs1562711915	C>A	Pathogenic	Coding sequence variant, stop gained
rs1562719029	C>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1562719705	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1583590393	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1583591809	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1583601110	CCACCCGGCCCACCT>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, splice donor variant
rs1583601365	G>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018730	hsa-miR-335-5p	Microarray	18185580
MIRT721960	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT496313	hsa-miR-6733-3p	HITS-CLIP	19536157
MIRT721959	hsa-miR-6072	HITS-CLIP	19536157
MIRT721958	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT721957	hsa-miR-4744	HITS-CLIP	19536157
MIRT721956	hsa-miR-4509	HITS-CLIP	19536157
MIRT721955	hsa-miR-6758-3p	HITS-CLIP	19536157
MIRT721954	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT721953	hsa-miR-3909	HITS-CLIP	19536157
MIRT721952	hsa-miR-6852-3p	HITS-CLIP	19536157
MIRT721951	hsa-miR-4799-5p	HITS-CLIP	19536157
MIRT721950	hsa-miR-4263	HITS-CLIP	19536157
MIRT721949	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT612962	hsa-miR-8485	HITS-CLIP	19536157
MIRT612961	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT612960	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT612959	hsa-miR-603	HITS-CLIP	19536157
MIRT612958	hsa-miR-4789-3p	HITS-CLIP	19536157
MIRT674566	hsa-miR-5580-3p	HITS-CLIP	19536157
MIRT612957	hsa-miR-3941	HITS-CLIP	19536157
MIRT674565	hsa-miR-3924	HITS-CLIP	19536157
MIRT496317	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT612962	hsa-miR-8485	HITS-CLIP	21572407
MIRT612961	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT612960	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT612959	hsa-miR-603	HITS-CLIP	21572407
MIRT612958	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT496314	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT612957	hsa-miR-3941	HITS-CLIP	21572407
MIRT612956	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT612955	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT612962	hsa-miR-8485	HITS-CLIP	23824327
MIRT612961	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612960	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612959	hsa-miR-603	HITS-CLIP	23824327
MIRT612958	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT674566	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT612957	hsa-miR-3941	HITS-CLIP	23824327
MIRT674565	hsa-miR-3924	HITS-CLIP	23824327
MIRT612962	hsa-miR-8485	HITS-CLIP	23824327
MIRT612961	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612960	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612959	hsa-miR-603	HITS-CLIP	23824327
MIRT612958	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT496314	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT612957	hsa-miR-3941	HITS-CLIP	23824327
MIRT612956	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612955	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT496317	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT493787	hsa-miR-8080	PAR-CLIP	20371350
MIRT493786	hsa-miR-6087	PAR-CLIP	20371350
MIRT493785	hsa-miR-4533	PAR-CLIP	20371350
MIRT493784	hsa-miR-3202	PAR-CLIP	20371350
MIRT493783	hsa-miR-92b-5p	PAR-CLIP	20371350
MIRT493782	hsa-miR-3191-3p	PAR-CLIP	20371350
MIRT493781	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT493780	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT496317	hsa-miR-1277-5p	PAR-CLIP	22291592
MIRT496316	hsa-miR-3163	PAR-CLIP	22291592
MIRT496315	hsa-miR-1295b-3p	PAR-CLIP	22291592
MIRT496314	hsa-miR-5011-5p	PAR-CLIP	22291592
MIRT496313	hsa-miR-6733-3p	PAR-CLIP	22291592
MIRT496312	hsa-miR-4302	PAR-CLIP	22291592
MIRT496311	hsa-miR-568	PAR-CLIP	22291592
MIRT493787	hsa-miR-8080	PAR-CLIP	23592263
MIRT493786	hsa-miR-6087	PAR-CLIP	23592263
MIRT493785	hsa-miR-4533	PAR-CLIP	23592263
MIRT493784	hsa-miR-3202	PAR-CLIP	23592263
MIRT493783	hsa-miR-92b-5p	PAR-CLIP	23592263
MIRT493782	hsa-miR-3191-3p	PAR-CLIP	23592263
MIRT493781	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT493780	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT493779	hsa-miR-6079	PAR-CLIP	23592263
MIRT440581	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT440581	hsa-miR-409-3p	HITS-CLIP	24374217
MIRT721960	hsa-miR-4524b-3p	HITS-CLIP	19536157
MIRT496313	hsa-miR-6733-3p	HITS-CLIP	19536157
MIRT721959	hsa-miR-6072	HITS-CLIP	19536157
MIRT721958	hsa-miR-6891-3p	HITS-CLIP	19536157
MIRT721957	hsa-miR-4744	HITS-CLIP	19536157
MIRT721956	hsa-miR-4509	HITS-CLIP	19536157
MIRT721955	hsa-miR-6758-3p	HITS-CLIP	19536157
MIRT721954	hsa-miR-627-3p	HITS-CLIP	19536157
MIRT721953	hsa-miR-3909	HITS-CLIP	19536157
MIRT721952	hsa-miR-6852-3p	HITS-CLIP	19536157
MIRT721951	hsa-miR-4799-5p	HITS-CLIP	19536157
MIRT721950	hsa-miR-4263	HITS-CLIP	19536157
MIRT721949	hsa-miR-576-5p	HITS-CLIP	19536157
MIRT612962	hsa-miR-8485	HITS-CLIP	19536157
MIRT612961	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT612960	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT612959	hsa-miR-603	HITS-CLIP	19536157
MIRT612958	hsa-miR-4789-3p	HITS-CLIP	19536157
MIRT674566	hsa-miR-5580-3p	HITS-CLIP	19536157
MIRT612957	hsa-miR-3941	HITS-CLIP	19536157
MIRT674565	hsa-miR-3924	HITS-CLIP	19536157
MIRT496317	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT612962	hsa-miR-8485	HITS-CLIP	21572407
MIRT612961	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT612960	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT612959	hsa-miR-603	HITS-CLIP	21572407
MIRT612958	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT496314	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT612957	hsa-miR-3941	HITS-CLIP	21572407
MIRT612956	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT612955	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT612962	hsa-miR-8485	HITS-CLIP	23824327
MIRT612961	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612960	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612959	hsa-miR-603	HITS-CLIP	23824327
MIRT612958	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT674566	hsa-miR-5580-3p	HITS-CLIP	23824327
MIRT612957	hsa-miR-3941	HITS-CLIP	23824327
MIRT674565	hsa-miR-3924	HITS-CLIP	23824327
MIRT612962	hsa-miR-8485	HITS-CLIP	23824327
MIRT612961	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT612960	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT612959	hsa-miR-603	HITS-CLIP	23824327
MIRT612958	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT496314	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT612957	hsa-miR-3941	HITS-CLIP	23824327
MIRT612956	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT612955	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT496317	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT493787	hsa-miR-8080	PAR-CLIP	20371350
MIRT493786	hsa-miR-6087	PAR-CLIP	20371350
MIRT493785	hsa-miR-4533	PAR-CLIP	20371350
MIRT493784	hsa-miR-3202	PAR-CLIP	20371350
MIRT493783	hsa-miR-92b-5p	PAR-CLIP	20371350
MIRT493782	hsa-miR-3191-3p	PAR-CLIP	20371350
MIRT493781	hsa-miR-6795-5p	PAR-CLIP	20371350
MIRT493780	hsa-miR-6887-5p	PAR-CLIP	20371350
MIRT496317	hsa-miR-1277-5p	PAR-CLIP	22291592
MIRT496316	hsa-miR-3163	PAR-CLIP	22291592
MIRT496315	hsa-miR-1295b-3p	PAR-CLIP	22291592
MIRT496314	hsa-miR-5011-5p	PAR-CLIP	22291592
MIRT496313	hsa-miR-6733-3p	PAR-CLIP	22291592
MIRT496312	hsa-miR-4302	PAR-CLIP	22291592
MIRT496311	hsa-miR-568	PAR-CLIP	22291592
MIRT493787	hsa-miR-8080	PAR-CLIP	23592263
MIRT493786	hsa-miR-6087	PAR-CLIP	23592263
MIRT493785	hsa-miR-4533	PAR-CLIP	23592263
MIRT493784	hsa-miR-3202	PAR-CLIP	23592263
MIRT493783	hsa-miR-92b-5p	PAR-CLIP	23592263
MIRT493782	hsa-miR-3191-3p	PAR-CLIP	23592263
MIRT493781	hsa-miR-6795-5p	PAR-CLIP	23592263
MIRT493780	hsa-miR-6887-5p	PAR-CLIP	23592263
MIRT493779	hsa-miR-6079	PAR-CLIP	23592263
MIRT1014693	hsa-miR-1200	CLIP-seq
MIRT1014694	hsa-miR-1913	CLIP-seq
MIRT1014695	hsa-miR-1976	CLIP-seq
MIRT1014696	hsa-miR-296-5p	CLIP-seq
MIRT1014697	hsa-miR-3127-3p	CLIP-seq
MIRT1014698	hsa-miR-3170	CLIP-seq
MIRT1014699	hsa-miR-3189-3p	CLIP-seq
MIRT1014700	hsa-miR-324-3p	CLIP-seq
MIRT1014701	hsa-miR-4258	CLIP-seq
MIRT1014702	hsa-miR-4260	CLIP-seq
MIRT1014703	hsa-miR-4265	CLIP-seq
MIRT1014704	hsa-miR-4296	CLIP-seq
MIRT1014705	hsa-miR-4322	CLIP-seq
MIRT1014706	hsa-miR-4324	CLIP-seq
MIRT1014707	hsa-miR-4417	CLIP-seq
MIRT1014708	hsa-miR-4650-5p	CLIP-seq
MIRT1014709	hsa-miR-4659a-3p	CLIP-seq
MIRT1014710	hsa-miR-4659b-3p	CLIP-seq
MIRT1014711	hsa-miR-4722-3p	CLIP-seq
MIRT1014712	hsa-miR-4738-5p	CLIP-seq
MIRT1014713	hsa-miR-4755-3p	CLIP-seq
MIRT1014714	hsa-miR-486-3p	CLIP-seq
MIRT1014715	hsa-miR-544b	CLIP-seq
MIRT1014716	hsa-miR-3126-5p	CLIP-seq
MIRT1014717	hsa-miR-3160-3p	CLIP-seq
MIRT1014718	hsa-miR-4300	CLIP-seq
MIRT1014719	hsa-miR-4419a	CLIP-seq
MIRT1014720	hsa-miR-4510	CLIP-seq
MIRT1014721	hsa-miR-4699-5p	CLIP-seq
MIRT1014712	hsa-miR-4738-5p	CLIP-seq
MIRT1014722	hsa-miR-4747-3p	CLIP-seq
MIRT1014723	hsa-miR-548a-3p	CLIP-seq
MIRT1014724	hsa-miR-548ae	CLIP-seq
MIRT1014725	hsa-miR-548aj	CLIP-seq
MIRT1014726	hsa-miR-548am	CLIP-seq
MIRT1014727	hsa-miR-548e	CLIP-seq
MIRT1014728	hsa-miR-548f	CLIP-seq
MIRT1014729	hsa-miR-548x	CLIP-seq
MIRT1014730	hsa-miR-920	CLIP-seq
MIRT2233958	hsa-miR-2115	CLIP-seq
MIRT2233959	hsa-miR-3180-5p	CLIP-seq
MIRT2233960	hsa-miR-520a-5p	CLIP-seq
MIRT2233961	hsa-miR-525-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HIF1A	Unknown	14612449
HNF4A	Unknown	14612449
PDX1	Activation	8866550
USF1	Activation	9677331

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001678	Process	Intracellular glucose homeostasis	IBA
GO:0001678	Process	Intracellular glucose homeostasis	IEA
GO:0001678	Process	Intracellular glucose homeostasis	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004340	Function	Glucokinase activity	IBA
GO:0004340	Function	Glucokinase activity	IDA	8446612, 12941786, 16173921, 22611063
GO:0004340	Function	Glucokinase activity	IEA
GO:0004340	Function	Glucokinase activity	IMP	18322640, 19146401
GO:0004340	Function	Glucokinase activity	TAS
GO:0004396	Function	Hexokinase activity	IEA
GO:0005515	Function	Protein binding	IPI	11522786, 16173921, 32296183
GO:0005524	Function	ATP binding	IDA	8446612, 12941786, 16173921
GO:0005524	Function	ATP binding	IEA
GO:0005536	Function	D-glucose binding	IDA	8446612, 12941786, 16173921
GO:0005536	Function	D-glucose binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006006	Process	Glucose metabolic process	IBA
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006007	Process	Glucose catabolic process	IMP	12941786
GO:0006096	Process	Glycolytic process	IBA
GO:0006096	Process	Glycolytic process	IEA
GO:0006110	Process	Regulation of glycolytic process	NAS	9570959
GO:0006163	Process	Purine nucleotide metabolic process	IEA
GO:0006739	Process	NADP+ metabolic process	IEA
GO:0008865	Function	Fructokinase activity	IBA
GO:0008865	Function	Fructokinase activity	IEA
GO:0009749	Process	Response to glucose	ISS
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016773	Function	Phosphotransferase activity, alcohol group as acceptor	IEA
GO:0019158	Function	Mannokinase activity	IBA
GO:0019158	Function	Mannokinase activity	IEA
GO:0019318	Process	Hexose metabolic process	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IMP	8132752, 8878425
GO:0032869	Process	Cellular response to insulin stimulus	ISS
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	IMP	8132752, 20668700
GO:0043266	Process	Regulation of potassium ion transport	IEA
GO:0044320	Process	Cellular response to leptin stimulus	ISS
GO:0045721	Process	Negative regulation of gluconeogenesis	IMP	8878425
GO:0045725	Process	Positive regulation of glycogen biosynthetic process	IMP	8878425
GO:0046496	Process	Nicotinamide nucleotide metabolic process	IEA
GO:0046835	Process	Carbohydrate phosphorylation	IEA
GO:0050796	Process	Regulation of insulin secretion	IBA
GO:0050796	Process	Regulation of insulin secretion	IEA
GO:0050796	Process	Regulation of insulin secretion	IMP	20668700
GO:0051156	Process	Glucose 6-phosphate metabolic process	IBA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IMP	18322640, 19146401
GO:0061621	Process	Canonical glycolysis	TAS
GO:0070509	Process	Calcium ion import	IEA
GO:0141089	Function	Glucose sensor activity	ISS

Other IDs

• MIM: 138079
• HGNC: 4195
• e!Ensembl: ENSG00000106633

Protein

• UniProt ID: P35557
• Protein name: Hexokinase-4 (HK4) (EC 2.7.1.1) (Glucokinase) (Hexokinase type IV) (HK IV) (Hexokinase-D)
• Protein function: Catalyzes the phosphorylation of hexose, such as D-glucose, D-fructose and D-mannose, to hexose 6-phosphate (D-glucose 6-phosphate, D-fructose 6-phosphate and D-mannose 6-phosphate, respectively) (PubMed:11916951, PubMed:15277402, PubMed:1708218
• PDB: 1V4S, 1V4T, 3A0I, 3F9M, 3FGU, 3FR0, 3GOI, 3H1V, 3ID8, 3IDH, 3IMX, 3QIC, 3S41, 3VEV, 3VEY, 3VF6, 4DCH, 4DHY, 4ISE, 4ISF, 4ISG, 4IWV, 4IXC, 4L3Q, 4LC9, 4MLE, 4MLH, 4NO7, 4RCH, 5V4W, 5V4X, 6E0E, 6E0I, 7T78, 7T79
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00349	Hexokinase_1	15 → 215	Hexokinase	Domain
  PF03727	Hexokinase_2	221 → 455	Hexokinase	Domain

• Sequence:

  MLDDRARMEAAKKEKVEQILAEFQLQEEDLKKVMRRMQKEMDRGLRLETHEEASVKMLPT
  YVRSTPEGSEVGDFLSLDLGGTNFRVMLVKVGEGEEGQWSVKTKHQMYSIPEDAMTGTAE
  MLFDYISECISDFLDKHQMKHKKLPLGFTFSFPVRHEDIDKGILLNWTKGFKASGAEGNN
  VVGLLRDAIKRRGDFEMDVVAMVNDTVATMISCYYEDHQCEVGMIVGTGCNACYMEEMQN
  VELVEGDEGRMCVNTEWGAFGDSGELDEFLLEYDRLVDESSANPGQQLYEKLIGGKYMGE
  LVRLVLLRLVDENLLFHGEASEQLRTRGAFETRFVSQVESDTGDRKQIYNILSTLGLRPS
  TTDCDIVRRACESVSTRAAHMCSAGLAGVINRMRESRSEDVMRITVGVDGSVYKLHPSFK
  ERFHASVRRLTPSCEITFIESEEGSGRGAALVSAVACKKACMLGQ

• Sequence length: 465

Pathways

KEGG:

Glycolysis / Gluconeogenesis
Galactose metabolism
Starch and sucrose metabolism
Amino sugar and nucleotide sugar metabolism
Neomycin, kanamycin and gentamicin biosynthesis
Metabolic pathways
Carbon metabolism
Biosynthesis of nucleotide sugars
Insulin signaling pathway
Insulin secretion
Prolactin signaling pathway
Glucagon signaling pathway
Type II diabetes mellitus
Maturity onset diabetes of the young
Central carbon metabolism in cancer

Reactome:

Regulation of Glucokinase by Glucokinase Regulatory Protein
Defective GCK causes maturity-onset diabetes of the young 2 (MODY2)
Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
Glycolysis

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Diabetes mellitus	Likely pathogenic; Pathogenic	rs193922335	RCV002285138	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hyperinsulinism	Likely pathogenic	rs2484491913	RCV003236379	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GCK-related disorder	Likely pathogenic; Pathogenic	rs1167124132, rs1286804191, rs2484493384, rs759072800, rs1372420759, rs1057521094, rs2484628372, rs2484524286, rs80356655, rs104894010, rs1171740250, rs2484535560, rs2484513929, rs1394266353, rs1057524904, rs764232985, rs1085307455, rs1554335441, rs762263694, rs1360415315, rs1554334546, rs193922272, rs148311934, rs193922329, rs193922331, rs193922340, rs1486280029, rs1583591747, rs267601516	RCV003900855 RCV003401708 RCV003395445 RCV003955153 RCV003416862 RCV003400068 RCV003392982 RCV003908985 RCV004751212 RCV004730847 RCV003982667 RCV003893758 RCV003893782 RCV003893876 RCV004751527 RCV003418141 RCV004751564 RCV003403149 RCV004751569 RCV004751574 RCV004751578 RCV003398573 RCV004751227 RCV004751228 RCV004751229 RCV003420270 RCV004751675 RCV004751674 RCV003396574 RCV004751252	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gestational diabetes	Pathogenic; Likely pathogenic	rs587780343, rs587780345, rs587780346, rs587780347, rs193922331	RCV000117127 RCV000117131 RCV000117132 RCV000117134 RCV000117135	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinism due to glucokinase deficiency	Pathogenic; Likely pathogenic	rs142952813, rs587780345, rs2128822695, rs777870079, rs2484535997, rs2484540047, rs769268803, rs2484491553, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs2484535683, rs2484495767, rs1057524904, rs1064793998, rs1085307455, rs1131691416, rs1350717554, rs1360415315, rs193922266, rs1379908545, rs104894011, rs193922283, rs148311934, rs193922335, rs1400535021, rs1185622190, rs1376796469, rs1562717053, rs1486280029, rs80356654, rs267601516	RCV002488347 RCV000763586 RCV002221403 RCV004796119 RCV003224686 RCV003224852 RCV000763583 RCV005047518 RCV003147296 RCV003147298 RCV000017520 RCV000017525 RCV000017526 RCV000017528 RCV005038707 RCV005044651 RCV005034013 RCV002496884 RCV002489206 RCV000499682 RCV000763585 RCV005034062 RCV002476041 RCV002490882 RCV000763582 RCV002477021 RCV002490414 RCV003147513 RCV000764717 RCV005034335 RCV002499286 RCV005046971 RCV005036262 RCV005036263 RCV005031551	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maturity-onset diabetes of the young	Pathogenic; Likely pathogenic	rs2128819280, rs142952813, rs2128821468, rs1286804191, rs747783371, rs587780344, rs587780345, rs587780346, rs1339598338, rs1192394824, rs1376631949, rs2128823091, rs2128821570, rs2128821490, rs2484534844, rs1471992838, rs1376620210, rs2484497008, rs2484497313, rs2484529561, rs2484523834, rs2484522455, rs2484529445, rs2484529224, rs2128821624, rs2484523742, rs1554335421, rs2484514960, rs2484493584, rs1394266353, rs2484506568, rs2484514615, rs769268803, rs2484492011, rs1230892001, rs2484492957, rs2096283124, rs2484498241, rs2484506114, rs1057524902, rs1554334546, rs770231054, rs1583591747, rs2484522183, rs794727775, rs794727839, rs2484496497, rs759072800, rs797045595, rs864321656, rs878853246, rs2484523726, rs886042015, rs886041690, rs886042610, rs2484529426, rs2484523126, rs193922319, rs2484522134, rs1435165422, rs2484512979, rs2484505724, rs2484495238, rs2096283005, rs2484529240, rs2484524530, rs2484514406, rs104894006, rs80356655, rs104894008, rs2484529492, rs2484507251, rs2484540040, rs2484513616, rs2484507211, rs1057521094, rs1057524904, rs1057524905, rs764232985, rs1064793134, rs1064796410, rs1057520109, rs1085307455, rs1131691483, rs1554335441, rs762263694, rs1554334579, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554334539, rs1554334610, rs1554334613, rs193922258, rs1554334894, rs1554334905, rs1554335111, rs1554335132, rs1554335135, rs1332966015, rs746913146, rs1246464603, rs1554335573, rs1554335585, rs1554335966, rs144723656, rs193922254, rs193922259, rs193922263, rs193922264, rs193922265, rs193922267, rs193922268, rs193922269, rs193922272, rs193922273, rs193922275, rs193922280, rs193922281, rs193922284, rs193922289, rs193922290, rs193922291, rs193922295, rs193922300, rs193922302, rs193922304, rs193922307, rs193922313, rs193922314, rs193922316, rs193922317, rs148311934, rs193922320, rs193922329, rs193922330, rs193922331, rs193922336, rs193922339, rs1554335564, rs1400535021, rs1554334872, rs1562711915, rs1562713041, rs1562715296, rs1562715657, rs1562717053, rs1562718043, rs1562719029, rs1562715426, rs1562719705, rs1583592247, rs780612692, rs1583590393, rs1583591700, rs1583591809, rs1583596522, rs1583599303, rs751279776, rs1583601365, rs1281712444, rs1583601110, rs2096270755, rs2096281702, rs2096271597, rs2096271425, rs2096270423, rs2096270699, rs2096271482, rs2096273902, rs2096275721, rs2096278285, rs2096280050, rs2096281776, rs2096278847	RCV002322436 RCV002368554 RCV002368586 RCV005250198 RCV002406905 RCV002336252 RCV002345419 RCV003343641 RCV006302420 RCV002370606 RCV003329421 RCV003329435 RCV003329437 RCV004017916 RCV004017919 RCV002325992 RCV002348865 RCV002355448 RCV002456979 RCV002328413 RCV002347463 RCV002364444 RCV002340196 RCV002338076 RCV002340943 RCV002359763 RCV002359893 RCV002362470 RCV002434767 RCV002416667 RCV002385341 RCV002380111 RCV002400446 RCV002387880 RCV002376867 RCV002380620 RCV002392406 RCV002421967 RCV002432802 RCV002463832 RCV002463834 RCV002463843 RCV004070133 RCV003329455 RCV002354464 RCV002463657 RCV004065743 RCV002464011 RCV002464140 RCV002463661 RCV002464012 RCV003329474 RCV004547644 RCV002463671 RCV002465607 RCV002347992 RCV003283408 RCV003330050 RCV003330053 RCV003330054 RCV003330055 RCV003330056 RCV003330057 RCV003330058 RCV003330059 RCV003330060 RCV003330071 RCV003330073 RCV003330074 RCV004369265 RCV002345246 RCV002362586 RCV001507008 RCV004823246 RCV004823249 RCV004018086 RCV004520629 RCV004520631 RCV002450985 RCV002393068 RCV002319498 RCV002379402 RCV002431386 RCV002464015 RCV002402377 RCV002350083 RCV002463682 RCV002350106 RCV000788107 RCV002463691 RCV002463692 RCV002367690 RCV002464017 RCV002438219 RCV002463696 RCV002463694 RCV002463695 RCV002463693 RCV002463711 RCV002463710 RCV002463707 RCV002413397 RCV002463706 RCV002367714 RCV002367713 RCV002463701 RCV002464021 RCV002464019 RCV002464233 RCV000826165 RCV002390120 RCV002463995 RCV002463593 RCV002321490 RCV002444444 RCV002463594 RCV002285137 RCV002463595 RCV004017269 RCV005562302 RCV002287344 RCV002287345 RCV002381268 RCV002287346 RCV002426523 RCV002465491 RCV002463997 RCV002371785 RCV002336092 RCV002464001 RCV002463598 RCV002463600 RCV002362597 RCV002287347 RCV002371786 RCV002371787 RCV000825615 RCV002463604 RCV002463605 RCV002326691 RCV002463611 RCV000826166 RCV002371788 RCV002463616 RCV002464026 RCV002287429 RCV002463723 RCV002463729 RCV002463728 RCV002463732 RCV002360845 RCV002352232 RCV002464031 RCV002465757 RCV002463737 RCV002332563 RCV002463756 RCV002409317 RCV002287453 RCV002463761 RCV002463760 RCV002463759 RCV002382224 RCV002354899 RCV004017770 RCV002464034 RCV002363516 RCV003106086 RCV002463772 RCV002464038 RCV002463793 RCV002463795 RCV002287492 RCV002287491 RCV002322180 RCV002463804 RCV002463807 RCV002463806 RCV002464040 RCV002465863 RCV003127763	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maturity-onset diabetes of the young type 2	Pathogenic; Likely pathogenic	rs2128819280, rs142952813, rs2128822108, rs2128818859, rs587780345, rs1339598338, rs2128819092, rs2128820620, rs1300199281, rs2128821509, rs2128820597, rs1554334886, rs2128819357, rs2128818820, rs1319364468, rs2128823091, rs2128823089, rs1170194230, rs193922337, rs1470521850, rs2128821490, rs193929376, rs1057524906, rs1583591303, rs1468609625, rs2484535524, rs2484534844, rs2484529399, rs2484524511, rs2484523083, rs1167675604, rs2128820046, rs1198819911, rs2096271616, rs1554335570, rs2484539869, rs2484493384, rs2484513948, rs2484507546, rs2484535943, rs2484506820, rs780716926, rs2484495820, rs794727236, rs794727775, rs794727839, rs759072800, rs797045595, rs864321656, rs876661320, rs777870079, rs878853246, rs2484523726, rs2484535997, rs2484540047, rs769268803, rs886039380, rs886042610, rs2484492578, rs2484492787, rs2484491395, rs2484493563, rs2484493618, rs2484491553, rs1275130611, rs2484522183, rs2484492888, rs2128821468, rs2484492907, rs2484492934, rs2128821587, rs193929374, rs1583599749, rs193922283, rs370464857, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs2484495767, rs2484522862, rs866182415, rs1057521092, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs1085307455, rs1131691416, rs1554335441, rs762263694, rs1554334579, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs193922266, rs1415041911, rs1379908545, rs1554334894, rs1554335421, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922267, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922284, rs193922286, rs193922287, rs193922289, rs193922290, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922304, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922323, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922339, rs193922341, rs1554335564, rs397514580, rs1400535021, rs1554334872, rs1185622190, rs1167124132, rs1471992838, rs193922340, rs1376796469, rs556436603, rs1562715657, rs1562717053, rs1486280029, rs1554335954, rs1562715426, rs556581174, rs781260712, rs1562719705, rs1583592247, rs780612692, rs1476637197, rs751279776, rs1583601110, rs267601516, rs2096281702, rs2096271597, rs2096271425, rs2096270423, rs2096270699, rs193929375, rs2096278847	RCV003388013 RCV001527032 RCV001580191 RCV001732836 RCV000763586 RCV006266922 RCV002052274 RCV002225198 RCV002227421 RCV002227422 RCV002227423 RCV002227424 RCV002227425 RCV002227426 RCV002227427 RCV002227428 RCV002227431 RCV002227432 RCV002227433 RCV002249055 RCV002250012 RCV002272801 RCV002285550 RCV002285551 RCV002285552 RCV002285554 RCV002285555 RCV002285556 RCV002285557 RCV002285558 RCV002285559 RCV002285561 RCV002285562 RCV002286464 RCV002289017 RCV002289142 RCV002289504 RCV002290072 RCV002290224 RCV002290240 RCV002308507 RCV002466918 RCV004798003 RCV004587413 RCV003388832 RCV002272161 RCV002051823 RCV000193215 RCV000193318 RCV000203555 RCV000223803 RCV000225001 RCV000225041 RCV003142422 RCV003224686 RCV003224852 RCV000763583 RCV001844105 RCV002285302 RCV003313354 RCV003313363 RCV003313365 RCV003313366 RCV003313369 RCV005047518 RCV003323266 RCV004719320 RCV003330369 RCV003388272 RCV003397215 RCV003397216 RCV005414293 RCV003445468 RCV003447825 RCV004786963 RCV004786964 RCV000017512 RCV002225072 RCV000020167 RCV000017515 RCV000017516 RCV000017518 RCV000017519 RCV000190348 RCV000017527 RCV003991166 RCV005038707 RCV004545931 RCV004556149 RCV006263933 RCV000754802 RCV000754803 RCV000754801 RCV002285330 RCV000754817 RCV000754804 RCV000754816 RCV002489206 RCV002285343 RCV000503648 RCV000502737 RCV000499613 RCV000504015 RCV000501758 RCV000501175 RCV000502130 RCV000504203 RCV000502155 RCV005034062 RCV005407668 RCV002285351 RCV002468586 RCV002285350 RCV002285354 RCV003152667 RCV000029833 RCV000029834 RCV000029835 RCV000029836 RCV000029837 RCV000029838 RCV000029839 RCV000029840 RCV000029842 RCV000029843 RCV000029844 RCV000029845 RCV000029848 RCV000029851 RCV000029852 RCV000029854 RCV000029858 RCV000029859 RCV000029860 RCV000029861 RCV000029862 RCV000763582 RCV000029864 RCV000029867 RCV000029868 RCV000029872 RCV000029873 RCV000029874 RCV000029879 RCV000029881 RCV004558274 RCV000029887 RCV000029888 RCV000029889 RCV000029893 RCV000029899 RCV000029900 RCV000029901 RCV000029902 RCV000029903 RCV000029904 RCV000029906 RCV000029907 RCV000029908 RCV000029911 RCV000029914 RCV000029919 RCV000029920 RCV000029921 RCV002490414 RCV000029927 RCV000029929 RCV000029930 RCV000029933 RCV002285369 RCV000032978 RCV003147514 RCV000625570 RCV000764717 RCV002285406 RCV005901795 RCV004797865 RCV001420913 RCV002227212 RCV004719971 RCV002499286 RCV002285407 RCV002285408 RCV003987690 RCV000754805 RCV000760157 RCV000778070 RCV000987866 RCV000987868 RCV000991306 RCV002290505 RCV003117664 RCV001248939 RCV004702561 RCV002286425 RCV002285265 RCV001248986 RCV001249069 RCV001249585 RCV001253600 RCV001261199 RCV003399058 RCV003399057 RCV003330326 RCV001293474	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maturity-onset diabetes of the young type 3	Likely pathogenic; Pathogenic	rs2128821570, rs104894008	RCV002244300 RCV003445078	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly, normal intelligence and immunodeficiency	Likely pathogenic	rs1057524900	RCV004539920	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic diabetes	Pathogenic; Likely pathogenic	rs2128819280, rs142952813, rs1441649062, rs2128821589, rs2128821468, rs2096271616, rs749298368, rs2128818859, rs1167124132, rs2128819209, rs1286804191, rs747783371, rs1255911887, rs587780343, rs193922297, rs587780344, rs587780345, rs587780346, rs748554061, rs1235227560, rs1339598338, rs2096278825, rs1376631949, rs2128819136, rs2128820597, rs1319364468, rs1167675604, rs1036483919, rs2484491967, rs2484493384, rs1471992838, rs1376620210, rs2484529445, rs2128821624, rs1230892001, rs2484492957, rs780716926, rs2096283096, rs1583591747, rs2484522183, rs2484529889, rs2484540715, rs794727236, rs794727775, rs794727839, rs759072800, rs797045595, rs193922267, rs864321656, rs876661320, rs777870079, rs2096280084, rs2484523726, rs2484535997, rs769268803, rs886039380, rs2484513635, rs2484524321, rs2484522653, rs2484522642, rs2484534778, rs2484491285, rs886042610, rs2484529426, rs2484491317, rs2484493345, rs2484491745, rs2484491206, rs2484492158, rs1064795242, rs2484492107, rs2484492459, rs2096270569, rs781723641, rs2484493573, rs2484493609, rs2484493651, rs2484491553, rs2484490183, rs2484524391, rs2484491439, rs2484492358, rs193922269, rs193922266, rs2484497707, rs2484491222, rs2484491257, rs2096273902, rs2484514005, rs1375656631, rs2484540129, rs2484492040, rs370464857, rs377247972, rs2484492019, rs2484497875, rs2484523126, rs2484522134, rs1554334613, rs767565869, rs193922272, rs2484493596, rs2484540589, rs2484507006, rs2484493664, rs757281286, rs104894016, rs2484515022, rs2484534928, rs2484540140, rs2484505962, rs2484505927, rs2484492810, rs2128821587, rs556436603, rs2484506435, rs193929374, rs2484498603, rs2484529399, rs765007563, rs2484498146, rs2484539759, rs755498926, rs2484497283, rs193922313, rs1476637197, rs1064794268, rs2484524286, rs2484522141, rs1554334539, rs2128820605, rs2484530226, rs80356655, rs104894008, rs80356654, rs193922283, rs2096271511, rs2484529492, rs2484535560, rs193922299, rs1057524900, rs1441779135, rs2484507251, rs2484495896, rs2484495664, rs193929376, rs193929375, rs193929373, rs193922282, rs2096280050, rs2484495767, rs2484496778, rs193922268, rs2484497519, rs193922311, rs2484523947, rs2096271467, rs1057520109, rs1057521093, rs1057521092, rs1057524901, rs1057524902, rs1057524903, rs1057524904, rs1057524905, rs764232985, rs1064793134, rs1064793998, rs1085307455, rs1554335441, rs762263694, rs370375148, rs1360415315, rs1554335616, rs1554334546, rs1400535021, rs1554334610, rs193922265, rs1415041911, rs556581174, rs193922258, rs1379908545, rs1554334894, rs1554334905, rs1554335111, rs104894011, rs1554335132, rs1332966015, rs746913146, rs1554335573, rs1554335966, rs144723656, rs193922254, rs193922257, rs193922260, rs193922262, rs193922263, rs193922264, rs193921338, rs193922273, rs193922275, rs193922278, rs193922280, rs193922284, rs193922286, rs193922289, rs193922291, rs193922300, rs193922302, rs193922307, rs193922315, rs193922317, rs148311934, rs193922319, rs193922323, rs193922331, rs193922335, rs397514580, rs1562711915, rs1185622190, rs1562713041, rs193922340, rs1562715657, rs1562717053, rs1562718043, rs193922292, rs1444739794, rs1486280029, rs1554335954, rs1583590393, rs1583591700, rs1583591809, rs1583596522, rs1583599303, rs2096270755, rs2096271597, rs2096271482, rs756251613, rs2096275721	RCV003330328 RCV003399324 RCV002271659 RCV003994308 RCV004699421 RCV003318508 RCV003993682 RCV003313229 RCV003326000 RCV004527429 RCV003313230 RCV005623446 RCV003326005 RCV003325949 RCV003226201 RCV003318498 RCV005229917 RCV001844042 RCV003446984 RCV003318510 RCV003326004 RCV003446980 RCV005924091 RCV004527442 RCV002509759 RCV004526193 RCV006255387 RCV003883194 RCV003313269 RCV003445164 RCV003330331 RCV005417392 RCV004527446 RCV003883198 RCV003235717 RCV003330332 RCV005430861 RCV003493961 RCV005417393 RCV005647403 RCV005401999 RCV004992457 RCV003318514 RCV005054175 RCV003883139 RCV003445614 RCV001248968 RCV003993878 RCV005862540 RCV004527370 RCV005621923 RCV003226260 RCV003326023 RCV004527452 RCV004798038 RCV003987481 RCV006255633 RCV003230883 RCV003230885 RCV003234753 RCV003234754 RCV003234755 RCV003234756 RCV002222471 RCV004527455 RCV003313352 RCV003313355 RCV003313356 RCV003313357 RCV003313358 RCV003313359 RCV003313360 RCV003313361 RCV003313362 RCV003313364 RCV003313367 RCV003313368 RCV003313371 RCV003313373 RCV003313374 RCV003318522 RCV003318523 RCV003318524 RCV003318525 RCV003318526 RCV003318527 RCV003318528 RCV003326073 RCV003326074 RCV003326075 RCV003326076 RCV003326077 RCV003326078 RCV003326079 RCV003326080 RCV003326081 RCV003326083 RCV003326084 RCV003326085 RCV003326086 RCV003326087 RCV003326088 RCV005931134 RCV005647407 RCV005647408 RCV005931135 RCV003330366 RCV003330367 RCV003330368 RCV003330370 RCV003330371 RCV003331710 RCV003388354 RCV003388393 RCV003397217 RCV003397219 RCV003397220 RCV003397221 RCV003445236 RCV003445456 RCV003445458 RCV003445459 RCV003445460 RCV003445461 RCV003445462 RCV003445463 RCV003445464 RCV003479526 RCV003479790 RCV003481516 RCV003481517 RCV003481518 RCV003481520 RCV004690419 RCV005402037 RCV003494020 RCV003494021 RCV003494022 RCV003494023 RCV003494024 RCV003494025 RCV003494026 RCV003494028 RCV004527459 RCV003883222 RCV006255902 RCV003993693 RCV003883118 RCV003325940 RCV003318493 RCV003325941 RCV003883452 RCV003883453 RCV003883454 RCV003883455 RCV003883456 RCV003883457 RCV003883458 RCV003883459 RCV003883460 RCV005430867 RCV003993702 RCV003993704 RCV003993705 RCV003994909 RCV004526308 RCV004579626 RCV003883121 RCV003325943 RCV003318494 RCV003398550 RCV004527567 RCV004527568 RCV004527569 RCV004527570 RCV004527571 RCV004527572 RCV004527573 RCV004527575 RCV004527576 RCV004527578 RCV004574977 RCV004574978 RCV004584572 RCV005230315 RCV005646947 RCV003325955 RCV000445420 RCV000445487 RCV000445532 RCV000445412 RCV000445484 RCV000445383 RCV000445457 RCV003325957 RCV003493592 RCV003325956 RCV004689754 RCV001731711 RCV003318499 RCV003228938 RCV003403150 RCV003330317 RCV002282182 RCV003883151 RCV003403165 RCV003993664 RCV004527382 RCV004527381 RCV004797826 RCV003883153 RCV003318501 RCV003330318 RCV003318500 RCV003403213 RCV003325960 RCV003993666 RCV005629912 RCV003325965 RCV003325964 RCV003403215 RCV004689772 RCV003325963 RCV003325962 RCV001248971 RCV003493616 RCV004527384 RCV003993667 RCV004992296 RCV005418192 RCV003317047 RCV003493413 RCV003993657 RCV003493414 RCV003493415 RCV004797766 RCV003325945 RCV003318495 RCV002281721 RCV005417380 RCV004527298 RCV003883122 RCV001248970 RCV003330312 RCV001248969 RCV004527301 RCV003313031 RCV004527303 RCV003313033 RCV004527304 RCV002271378 RCV003325946 RCV003325948 RCV001248967 RCV004991978 RCV003993658 RCV004527305 RCV003234538 RCV004700287 RCV003445084 RCV003318496 RCV003445085 RCV003155041 RCV003155042 RCV003398574 RCV005646845 RCV005430858 RCV004689428 RCV003883126 RCV005646971 RCV001844229 RCV003493719 RCV003318504 RCV003325971 RCV003993676 RCV001805831 RCV003330319 RCV002298750 RCV003155293 RCV003480802 RCV003993677 RCV003480801 RCV003480800 RCV003325972 RCV005430860 RCV003325973 RCV003318505 RCV003313161 RCV004527404 RCV005417385 RCV003318507 RCV003883165 RCV003446565 RCV003493767 RCV002265919 RCV006256218 RCV003313165 RCV003330325 RCV003325991 RCV003883169 RCV003446686 RCV003331105 RCV005401820 RCV003493840 RCV003446687 RCV004527419	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pancytopenia-developmental delay syndrome	Pathogenic	rs193922340	RCV004813133	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Permanent neonatal diabetes mellitus	Pathogenic; Likely pathogenic	rs587780345, rs769268803, rs80356654, rs193929376, rs193929374, rs193929375, rs193929373, rs1360415315, rs193922283, rs1185622190	RCV000763586 RCV000763583 RCV000017521 RCV000020164 RCV000020165 RCV000020166 RCV000020168 RCV000763585 RCV000763582 RCV000764717	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Permanent neonatal diabetes mellitus 1	Likely pathogenic; Pathogenic	rs2128822614, rs142952813, rs777870079, rs2484535997, rs2484540047, rs2484491553, rs80356655, rs104894010, rs80356654, rs193929373, rs2484495767, rs1057524904, rs1064793998, rs1085307455, rs1131691416, rs193922266, rs1379908545, rs104894011, rs148311934, rs193922335, rs1400535021, rs1376796469, rs1562717053, rs1486280029, rs267601516	RCV002290704 RCV002488347 RCV004796119 RCV003224686 RCV003224852 RCV005047518 RCV001269032 RCV003147299 RCV001281107 RCV005646843 RCV005038707 RCV005044651 RCV005034013 RCV002496884 RCV002489206 RCV005034062 RCV002476041 RCV002490882 RCV002477021 RCV002490414 RCV003147515 RCV005034335 RCV002499286 RCV004819230 RCV005036262 RCV005036263 RCV005031551	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs193922257	RCV005888728	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Type 2 diabetes mellitus	Pathogenic; Likely pathogenic	rs142952813, rs587780345, rs777870079, rs2484535997, rs2484540047, rs769268803, rs2484491553, rs104894006, rs80356655, rs104894010, rs2484495767, rs1057524904, rs1064793998, rs1085307455, rs1131691416, rs1360415315, rs193922266, rs1379908545, rs104894011, rs193922283, rs148311934, rs193922331, rs193922335, rs1400535021, rs1185622190, rs1376796469, rs1562717053, rs1486280029, rs80356654, rs267601516	RCV002488347 RCV000763586 RCV004796119 RCV003224686 RCV003224852 RCV000763583 RCV005047518 RCV000017513 RCV003147295 RCV003147297 RCV005038707 RCV005044651 RCV005034013 RCV002496884 RCV002489206 RCV000763585 RCV005034062 RCV002476041 RCV002490882 RCV000763582 RCV002477021 RCV002467500 RCV002490414 RCV003147512 RCV000764717 RCV005034335 RCV002499286 RCV005046971 RCV005036262 RCV005036263 RCV005031551	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BONE MARROW FAILURE SYNDROME 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARBOHYDRATE METABOLISM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL GLUCOKINASE-RELATED HYPERINSULINISM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HYPERINSULINISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 2	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS AUTOSOMAL DOMINANT TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ 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	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL, 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM DUE TO DEFICIENCY OF GLUCOKINASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinism, Dominant	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGLYCEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTESTINAL DISACCHARIDE DEFICIENCY AND DISACCHARIDE MALABSORPTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED PERMANENT NEONATAL DIABETES MELLITUS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ 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 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal diabetes mellitus	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREDIABETES SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSIENT NEONATAL DIABETES MELLITUS	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transient Neonatal Diabetes, Recessive	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Uncertain risk allele	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSITORY NEONATAL DIABETES MELLITUS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations