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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5238
Gene name	Phosphoglucomutase 3
Gene symbol	PGM3
Synonyms (NCBI Gene)	AGM1IMD23PAGMPGM 3
Chromosome	6
Chromosome location	6q14.1
Summary	This gene encodes a member of the phosphohexose mutase family. The encoded protein mediates both glycogen formation and utilization by catalyzing the interconversion of glucose-1-phosphate and glucose-6-phosphate. A non-synonymous single nucleotide polymo

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SNP ID	Visualize variation	Clinical significance	Consequence
rs267608259	TTC>-	Pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs267608260	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs587777414	AAGTT>-	Pathogenic	Non coding transcript variant, intron variant, frameshift variant, coding sequence variant
rs587777415	A>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs587777416	ACT>-	Pathogenic	Non coding transcript variant, inframe indel, coding sequence variant
rs587777562	T>C	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs587777564	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs587777565	T>C	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs745508510	A>G	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs762678772	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs869312886	C>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1404084330	TGAAAGTTTCTCACTG>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023451	hsa-miR-30b-5p	Sequencing	20371350
MIRT024516	hsa-miR-215-5p	Microarray	19074876
MIRT026705	hsa-miR-192-5p	Microarray	19074876
MIRT032419	hsa-let-7b-5p	Proteomics	18668040
MIRT045722	hsa-miR-125a-5p	CLASH	23622248
MIRT037885	hsa-miR-455-3p	CLASH	23622248
MIRT707956	hsa-miR-548ac	HITS-CLIP	21572407
MIRT707955	hsa-miR-548bb-3p	HITS-CLIP	21572407
MIRT707954	hsa-miR-548d-3p	HITS-CLIP	21572407
MIRT707953	hsa-miR-548h-3p	HITS-CLIP	21572407
MIRT707952	hsa-miR-548z	HITS-CLIP	21572407
MIRT707951	hsa-miR-548at-3p	HITS-CLIP	21572407
MIRT707950	hsa-miR-548ay-3p	HITS-CLIP	21572407
MIRT707949	hsa-miR-4714-3p	HITS-CLIP	21572407
MIRT707947	hsa-miR-4275	HITS-CLIP	21572407
MIRT707948	hsa-miR-1282	HITS-CLIP	21572407
MIRT707946	hsa-miR-767-5p	HITS-CLIP	21572407
MIRT707945	hsa-miR-500a-3p	HITS-CLIP	21572407
MIRT707944	hsa-miR-507	HITS-CLIP	21572407
MIRT707943	hsa-miR-557	HITS-CLIP	21572407
MIRT622766	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT622768	hsa-miR-193a-3p	HITS-CLIP	23824327
MIRT622767	hsa-miR-193b-3p	HITS-CLIP	23824327
MIRT622766	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT622765	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT622764	hsa-miR-6072	HITS-CLIP	23824327
MIRT622763	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT622761	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT622762	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT622760	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT622759	hsa-miR-4252	HITS-CLIP	23824327
MIRT622758	hsa-miR-7703	HITS-CLIP	23824327
MIRT622757	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT622756	hsa-miR-588	HITS-CLIP	23824327
MIRT547154	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT023451	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT547153	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT547152	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT547151	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT555661	hsa-miR-216b-5p	PAR-CLIP	21572407
MIRT555660	hsa-miR-20a-3p	PAR-CLIP	21572407
MIRT555659	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT555658	hsa-miR-33a-5p	PAR-CLIP	21572407
MIRT555657	hsa-miR-33b-5p	PAR-CLIP	21572407
MIRT547154	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT023451	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT547153	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT547152	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT547151	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT547150	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT547149	hsa-miR-944	PAR-CLIP	21572407
MIRT547148	hsa-miR-4496	PAR-CLIP	21572407
MIRT547147	hsa-miR-1245a	PAR-CLIP	21572407
MIRT547146	hsa-miR-8079	PAR-CLIP	21572407
MIRT547144	hsa-miR-8062	PAR-CLIP	21572407
MIRT547145	hsa-miR-126-5p	PAR-CLIP	21572407
MIRT547143	hsa-miR-3145-3p	PAR-CLIP	21572407
MIRT547142	hsa-miR-3689a-5p	PAR-CLIP	21572407
MIRT547141	hsa-miR-3689b-5p	PAR-CLIP	21572407
MIRT547140	hsa-miR-3689e	PAR-CLIP	21572407
MIRT547139	hsa-miR-3689f	PAR-CLIP	21572407
MIRT547138	hsa-miR-331-5p	PAR-CLIP	21572407
MIRT547137	hsa-miR-6509-5p	PAR-CLIP	21572407
MIRT707956	hsa-miR-548ac	HITS-CLIP	21572407
MIRT707955	hsa-miR-548bb-3p	HITS-CLIP	21572407
MIRT707954	hsa-miR-548d-3p	HITS-CLIP	21572407
MIRT707953	hsa-miR-548h-3p	HITS-CLIP	21572407
MIRT707952	hsa-miR-548z	HITS-CLIP	21572407
MIRT707951	hsa-miR-548at-3p	HITS-CLIP	21572407
MIRT707950	hsa-miR-548ay-3p	HITS-CLIP	21572407
MIRT707949	hsa-miR-4714-3p	HITS-CLIP	21572407
MIRT707947	hsa-miR-4275	HITS-CLIP	21572407
MIRT707948	hsa-miR-1282	HITS-CLIP	21572407
MIRT707946	hsa-miR-767-5p	HITS-CLIP	21572407
MIRT707945	hsa-miR-500a-3p	HITS-CLIP	21572407
MIRT707944	hsa-miR-507	HITS-CLIP	21572407
MIRT707943	hsa-miR-557	HITS-CLIP	21572407
MIRT622766	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT622768	hsa-miR-193a-3p	HITS-CLIP	23824327
MIRT622767	hsa-miR-193b-3p	HITS-CLIP	23824327
MIRT622766	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT622765	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT622764	hsa-miR-6072	HITS-CLIP	23824327
MIRT622763	hsa-miR-6891-3p	HITS-CLIP	23824327
MIRT622761	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT622762	hsa-miR-3190-5p	HITS-CLIP	23824327
MIRT622760	hsa-miR-676-5p	HITS-CLIP	23824327
MIRT622759	hsa-miR-4252	HITS-CLIP	23824327
MIRT622758	hsa-miR-7703	HITS-CLIP	23824327
MIRT622757	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT622756	hsa-miR-588	HITS-CLIP	23824327
MIRT547154	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT023451	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT547153	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT547152	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT547151	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT555661	hsa-miR-216b-5p	PAR-CLIP	21572407
MIRT555660	hsa-miR-20a-3p	PAR-CLIP	21572407
MIRT555659	hsa-miR-340-5p	PAR-CLIP	21572407
MIRT555658	hsa-miR-33a-5p	PAR-CLIP	21572407
MIRT555657	hsa-miR-33b-5p	PAR-CLIP	21572407
MIRT547154	hsa-miR-30c-5p	PAR-CLIP	21572407
MIRT023451	hsa-miR-30b-5p	PAR-CLIP	21572407
MIRT547153	hsa-miR-30a-5p	PAR-CLIP	21572407
MIRT547152	hsa-miR-30d-5p	PAR-CLIP	21572407
MIRT547151	hsa-miR-30e-5p	PAR-CLIP	21572407
MIRT547150	hsa-miR-7844-5p	PAR-CLIP	21572407
MIRT547149	hsa-miR-944	PAR-CLIP	21572407
MIRT547148	hsa-miR-4496	PAR-CLIP	21572407
MIRT547147	hsa-miR-1245a	PAR-CLIP	21572407
MIRT547146	hsa-miR-8079	PAR-CLIP	21572407
MIRT547144	hsa-miR-8062	PAR-CLIP	21572407
MIRT547145	hsa-miR-126-5p	PAR-CLIP	21572407
MIRT547143	hsa-miR-3145-3p	PAR-CLIP	21572407
MIRT547142	hsa-miR-3689a-5p	PAR-CLIP	21572407
MIRT547141	hsa-miR-3689b-5p	PAR-CLIP	21572407
MIRT547140	hsa-miR-3689e	PAR-CLIP	21572407
MIRT547139	hsa-miR-3689f	PAR-CLIP	21572407
MIRT547138	hsa-miR-331-5p	PAR-CLIP	21572407
MIRT547137	hsa-miR-6509-5p	PAR-CLIP	21572407
MIRT1227790	hsa-miR-1200	CLIP-seq
MIRT1227791	hsa-miR-1273e	CLIP-seq
MIRT1227792	hsa-miR-1278	CLIP-seq
MIRT1227793	hsa-miR-1287	CLIP-seq
MIRT1227794	hsa-miR-1290	CLIP-seq
MIRT1227795	hsa-miR-134	CLIP-seq
MIRT1227796	hsa-miR-142-5p	CLIP-seq
MIRT1227797	hsa-miR-186	CLIP-seq
MIRT1227798	hsa-miR-203	CLIP-seq
MIRT1227799	hsa-miR-216b	CLIP-seq
MIRT1227800	hsa-miR-219-1-3p	CLIP-seq
MIRT1227801	hsa-miR-219-2-3p	CLIP-seq
MIRT1227802	hsa-miR-2355-3p	CLIP-seq
MIRT1227803	hsa-miR-2964a-3p	CLIP-seq
MIRT1227804	hsa-miR-296-5p	CLIP-seq
MIRT1227805	hsa-miR-30a	CLIP-seq
MIRT1227806	hsa-miR-30b	CLIP-seq
MIRT1227807	hsa-miR-30c	CLIP-seq
MIRT1227808	hsa-miR-30d	CLIP-seq
MIRT1227809	hsa-miR-30e	CLIP-seq
MIRT1227810	hsa-miR-3118	CLIP-seq
MIRT1227811	hsa-miR-3133	CLIP-seq
MIRT1227812	hsa-miR-3136-5p	CLIP-seq
MIRT1227813	hsa-miR-3167	CLIP-seq
MIRT1227814	hsa-miR-3174	CLIP-seq
MIRT1227815	hsa-miR-3190	CLIP-seq
MIRT1227816	hsa-miR-320e	CLIP-seq
MIRT1227817	hsa-miR-323-3p	CLIP-seq
MIRT1227818	hsa-miR-330-3p	CLIP-seq
MIRT1227819	hsa-miR-33a	CLIP-seq
MIRT1227820	hsa-miR-33b	CLIP-seq
MIRT1227821	hsa-miR-340	CLIP-seq
MIRT1227822	hsa-miR-3591-5p	CLIP-seq
MIRT1227823	hsa-miR-3606	CLIP-seq
MIRT1227824	hsa-miR-3653	CLIP-seq
MIRT1227825	hsa-miR-3658	CLIP-seq
MIRT1227826	hsa-miR-3667-3p	CLIP-seq
MIRT1227827	hsa-miR-3672	CLIP-seq
MIRT1227828	hsa-miR-375	CLIP-seq
MIRT1227829	hsa-miR-3914	CLIP-seq
MIRT1227830	hsa-miR-3926	CLIP-seq
MIRT1227831	hsa-miR-3929	CLIP-seq
MIRT1227832	hsa-miR-4255	CLIP-seq
MIRT1227833	hsa-miR-4299	CLIP-seq
MIRT1227834	hsa-miR-4301	CLIP-seq
MIRT1227835	hsa-miR-4307	CLIP-seq
MIRT1227836	hsa-miR-4324	CLIP-seq
MIRT1227837	hsa-miR-4326	CLIP-seq
MIRT1227838	hsa-miR-4419b	CLIP-seq
MIRT1227839	hsa-miR-4422	CLIP-seq
MIRT1227840	hsa-miR-4439	CLIP-seq
MIRT1227841	hsa-miR-4446-5p	CLIP-seq
MIRT1227842	hsa-miR-4456	CLIP-seq
MIRT1227843	hsa-miR-4478	CLIP-seq
MIRT1227844	hsa-miR-4499	CLIP-seq
MIRT1227845	hsa-miR-450b-5p	CLIP-seq
MIRT1227846	hsa-miR-4513	CLIP-seq
MIRT1227847	hsa-miR-4652-3p	CLIP-seq
MIRT1227848	hsa-miR-4677-3p	CLIP-seq
MIRT1227849	hsa-miR-4679	CLIP-seq
MIRT1227850	hsa-miR-4680-3p	CLIP-seq
MIRT1227851	hsa-miR-4682	CLIP-seq
MIRT1227852	hsa-miR-4686	CLIP-seq
MIRT1227853	hsa-miR-4712-5p	CLIP-seq
MIRT1227854	hsa-miR-4752	CLIP-seq
MIRT1227855	hsa-miR-4755-5p	CLIP-seq
MIRT1227856	hsa-miR-4768-5p	CLIP-seq
MIRT1227857	hsa-miR-4769-3p	CLIP-seq
MIRT1227858	hsa-miR-4778-5p	CLIP-seq
MIRT1227859	hsa-miR-4803	CLIP-seq
MIRT1227860	hsa-miR-511	CLIP-seq
MIRT1227861	hsa-miR-520d-5p	CLIP-seq
MIRT1227862	hsa-miR-524-5p	CLIP-seq
MIRT1227863	hsa-miR-539	CLIP-seq
MIRT1227864	hsa-miR-544b	CLIP-seq
MIRT1227865	hsa-miR-548a-3p	CLIP-seq
MIRT1227866	hsa-miR-548e	CLIP-seq
MIRT1227867	hsa-miR-548f	CLIP-seq
MIRT1227868	hsa-miR-548g	CLIP-seq
MIRT1227869	hsa-miR-548q	CLIP-seq
MIRT1227870	hsa-miR-548s	CLIP-seq
MIRT1227871	hsa-miR-568	CLIP-seq
MIRT1227872	hsa-miR-571	CLIP-seq
MIRT1227873	hsa-miR-582-5p	CLIP-seq
MIRT1227874	hsa-miR-670	CLIP-seq
MIRT1227875	hsa-miR-671-5p	CLIP-seq
MIRT1227876	hsa-miR-676	CLIP-seq
MIRT1227877	hsa-miR-770-5p	CLIP-seq
MIRT1227878	hsa-miR-876-5p	CLIP-seq
MIRT1227879	hsa-miR-885-5p	CLIP-seq
MIRT1227880	hsa-miR-921	CLIP-seq
MIRT1227881	hsa-miR-1295	CLIP-seq
MIRT1227882	hsa-miR-19a	CLIP-seq
MIRT1227883	hsa-miR-19b	CLIP-seq
MIRT1227884	hsa-miR-302f	CLIP-seq
MIRT1227814	hsa-miR-3174	CLIP-seq
MIRT1227817	hsa-miR-323-3p	CLIP-seq
MIRT1227823	hsa-miR-3606	CLIP-seq
MIRT1227827	hsa-miR-3672	CLIP-seq
MIRT1227885	hsa-miR-4470	CLIP-seq
MIRT1227844	hsa-miR-4499	CLIP-seq
MIRT1227886	hsa-miR-4717-5p	CLIP-seq
MIRT1227887	hsa-miR-4760-5p	CLIP-seq
MIRT1227888	hsa-miR-548a-5p	CLIP-seq
MIRT1227889	hsa-miR-548ab	CLIP-seq
MIRT1227890	hsa-miR-548ak	CLIP-seq
MIRT1227891	hsa-miR-548b-5p	CLIP-seq
MIRT1227892	hsa-miR-548c-5p	CLIP-seq
MIRT1227893	hsa-miR-548d-5p	CLIP-seq
MIRT1227894	hsa-miR-548h	CLIP-seq
MIRT1227895	hsa-miR-548i	CLIP-seq
MIRT1227896	hsa-miR-548j	CLIP-seq
MIRT1227897	hsa-miR-548n	CLIP-seq
MIRT1227898	hsa-miR-548w	CLIP-seq
MIRT1227899	hsa-miR-548y	CLIP-seq
MIRT1227900	hsa-miR-559	CLIP-seq
MIRT1227901	hsa-miR-577	CLIP-seq
MIRT1227880	hsa-miR-921	CLIP-seq
MIRT1227902	hsa-miR-1184	CLIP-seq
MIRT1227903	hsa-miR-1205	CLIP-seq
MIRT1227904	hsa-miR-1305	CLIP-seq
MIRT1227905	hsa-miR-193b	CLIP-seq
MIRT1227906	hsa-miR-3065-5p	CLIP-seq
MIRT1227907	hsa-miR-3158-5p	CLIP-seq
MIRT1227822	hsa-miR-3591-5p	CLIP-seq
MIRT1227824	hsa-miR-3653	CLIP-seq
MIRT1227825	hsa-miR-3658	CLIP-seq
MIRT1227908	hsa-miR-421	CLIP-seq
MIRT1227832	hsa-miR-4255	CLIP-seq
MIRT1227909	hsa-miR-513a-3p	CLIP-seq
MIRT1227910	hsa-miR-518d-5p	CLIP-seq
MIRT1227911	hsa-miR-519b-5p	CLIP-seq
MIRT1227912	hsa-miR-519c-5p	CLIP-seq
MIRT1227913	hsa-miR-520c-5p	CLIP-seq
MIRT1227914	hsa-miR-526a	CLIP-seq
MIRT1227915	hsa-miR-544	CLIP-seq
MIRT1227916	hsa-miR-877	CLIP-seq
MIRT1227805	hsa-miR-30a	CLIP-seq
MIRT1227806	hsa-miR-30b	CLIP-seq
MIRT1227807	hsa-miR-30c	CLIP-seq
MIRT1227808	hsa-miR-30d	CLIP-seq
MIRT1227809	hsa-miR-30e	CLIP-seq
MIRT1227819	hsa-miR-33a	CLIP-seq
MIRT1227820	hsa-miR-33b	CLIP-seq
MIRT1227821	hsa-miR-340	CLIP-seq
MIRT1227831	hsa-miR-3929	CLIP-seq
MIRT1227838	hsa-miR-4419b	CLIP-seq
MIRT1227843	hsa-miR-4478	CLIP-seq
MIRT1227794	hsa-miR-1290	CLIP-seq
MIRT1227796	hsa-miR-142-5p	CLIP-seq
MIRT2066683	hsa-miR-2110	CLIP-seq
MIRT1227803	hsa-miR-2964a-3p	CLIP-seq
MIRT2066684	hsa-miR-3129-3p	CLIP-seq
MIRT2066685	hsa-miR-3137	CLIP-seq
MIRT2066686	hsa-miR-3150a-3p	CLIP-seq
MIRT1227821	hsa-miR-340	CLIP-seq
MIRT2066687	hsa-miR-3686	CLIP-seq
MIRT2066688	hsa-miR-369-3p	CLIP-seq
MIRT2066689	hsa-miR-374a	CLIP-seq
MIRT2066690	hsa-miR-374b	CLIP-seq
MIRT1227835	hsa-miR-4307	CLIP-seq
MIRT1227837	hsa-miR-4326	CLIP-seq
MIRT2066691	hsa-miR-4450	CLIP-seq
MIRT2066692	hsa-miR-4522	CLIP-seq
MIRT1227847	hsa-miR-4652-3p	CLIP-seq
MIRT1227852	hsa-miR-4686	CLIP-seq
MIRT2066693	hsa-miR-4700-3p	CLIP-seq
MIRT1227856	hsa-miR-4768-5p	CLIP-seq
MIRT2066694	hsa-miR-4775	CLIP-seq
MIRT1227859	hsa-miR-4803	CLIP-seq
MIRT2066695	hsa-miR-509-3p	CLIP-seq
MIRT2066696	hsa-miR-513a-5p	CLIP-seq
MIRT1227865	hsa-miR-548a-3p	CLIP-seq
MIRT1227866	hsa-miR-548e	CLIP-seq
MIRT1227867	hsa-miR-548f	CLIP-seq
MIRT1227871	hsa-miR-568	CLIP-seq
MIRT2066697	hsa-miR-590-3p	CLIP-seq
MIRT2294294	hsa-miR-1267	CLIP-seq
MIRT2294295	hsa-miR-140-3p	CLIP-seq
MIRT2294296	hsa-miR-145	CLIP-seq
MIRT1227797	hsa-miR-186	CLIP-seq
MIRT2294297	hsa-miR-25	CLIP-seq
MIRT1227805	hsa-miR-30a	CLIP-seq
MIRT1227806	hsa-miR-30b	CLIP-seq
MIRT1227807	hsa-miR-30c	CLIP-seq
MIRT1227808	hsa-miR-30d	CLIP-seq
MIRT1227809	hsa-miR-30e	CLIP-seq
MIRT2294298	hsa-miR-3160-3p	CLIP-seq
MIRT2294299	hsa-miR-32	CLIP-seq
MIRT2294300	hsa-miR-324-5p	CLIP-seq
MIRT1227819	hsa-miR-33a	CLIP-seq
MIRT1227820	hsa-miR-33b	CLIP-seq
MIRT2294301	hsa-miR-3619-3p	CLIP-seq
MIRT2294302	hsa-miR-363	CLIP-seq
MIRT2294303	hsa-miR-3652	CLIP-seq
MIRT2294304	hsa-miR-367	CLIP-seq
MIRT1227831	hsa-miR-3929	CLIP-seq
MIRT2294305	hsa-miR-4263	CLIP-seq
MIRT1227838	hsa-miR-4419b	CLIP-seq
MIRT2294306	hsa-miR-4430	CLIP-seq
MIRT2294307	hsa-miR-4457	CLIP-seq
MIRT2294308	hsa-miR-4461	CLIP-seq
MIRT2294309	hsa-miR-4477a	CLIP-seq
MIRT1227843	hsa-miR-4478	CLIP-seq
MIRT2294310	hsa-miR-4487	CLIP-seq
MIRT2294311	hsa-miR-4493	CLIP-seq
MIRT1227847	hsa-miR-4652-3p	CLIP-seq
MIRT2294312	hsa-miR-4729	CLIP-seq
MIRT1227887	hsa-miR-4760-5p	CLIP-seq
MIRT2066694	hsa-miR-4775	CLIP-seq
MIRT2294313	hsa-miR-4776-5p	CLIP-seq
MIRT1227859	hsa-miR-4803	CLIP-seq
MIRT2294314	hsa-miR-5096	CLIP-seq
MIRT2294315	hsa-miR-513b	CLIP-seq
MIRT2294316	hsa-miR-548l	CLIP-seq
MIRT1227897	hsa-miR-548n	CLIP-seq
MIRT2294317	hsa-miR-548t	CLIP-seq
MIRT2294318	hsa-miR-558	CLIP-seq
MIRT1227872	hsa-miR-571	CLIP-seq
MIRT2294319	hsa-miR-576-5p	CLIP-seq
MIRT1227901	hsa-miR-577	CLIP-seq
MIRT2066697	hsa-miR-590-3p	CLIP-seq
MIRT2294320	hsa-miR-591	CLIP-seq
MIRT2294321	hsa-miR-92a	CLIP-seq
MIRT2294322	hsa-miR-92b	CLIP-seq
MIRT2294323	hsa-miR-4795-3p	CLIP-seq
MIRT1227790	hsa-miR-1200	CLIP-seq
MIRT1227800	hsa-miR-219-1-3p	CLIP-seq
MIRT1227802	hsa-miR-2355-3p	CLIP-seq
MIRT1227805	hsa-miR-30a	CLIP-seq
MIRT1227806	hsa-miR-30b	CLIP-seq
MIRT1227807	hsa-miR-30c	CLIP-seq
MIRT1227808	hsa-miR-30d	CLIP-seq
MIRT1227809	hsa-miR-30e	CLIP-seq
MIRT1227819	hsa-miR-33a	CLIP-seq
MIRT1227820	hsa-miR-33b	CLIP-seq
MIRT1227831	hsa-miR-3929	CLIP-seq
MIRT1227836	hsa-miR-4324	CLIP-seq
MIRT1227838	hsa-miR-4419b	CLIP-seq
MIRT1227843	hsa-miR-4478	CLIP-seq
MIRT1227851	hsa-miR-4682	CLIP-seq
MIRT1227853	hsa-miR-4712-5p	CLIP-seq
MIRT1227860	hsa-miR-511	CLIP-seq
MIRT1227910	hsa-miR-518d-5p	CLIP-seq
MIRT1227911	hsa-miR-519b-5p	CLIP-seq
MIRT1227912	hsa-miR-519c-5p	CLIP-seq
MIRT1227913	hsa-miR-520c-5p	CLIP-seq
MIRT1227914	hsa-miR-526a	CLIP-seq
MIRT1227864	hsa-miR-544b	CLIP-seq
MIRT1227872	hsa-miR-571	CLIP-seq
MIRT1227876	hsa-miR-676	CLIP-seq
MIRT1227877	hsa-miR-770-5p	CLIP-seq
MIRT2066693	hsa-miR-4700-3p	CLIP-seq
MIRT2465833	hsa-miR-4704-3p	CLIP-seq
MIRT2066696	hsa-miR-513a-5p	CLIP-seq
MIRT2592226	hsa-miR-101	CLIP-seq
MIRT2592227	hsa-miR-1238	CLIP-seq
MIRT2592228	hsa-miR-1266	CLIP-seq
MIRT1227796	hsa-miR-142-5p	CLIP-seq
MIRT2592229	hsa-miR-144	CLIP-seq
MIRT2294296	hsa-miR-145	CLIP-seq
MIRT1227797	hsa-miR-186	CLIP-seq
MIRT2592230	hsa-miR-1912	CLIP-seq
MIRT2592231	hsa-miR-192	CLIP-seq
MIRT1227905	hsa-miR-193b	CLIP-seq
MIRT2592232	hsa-miR-199a-3p	CLIP-seq
MIRT2592233	hsa-miR-199b-3p	CLIP-seq
MIRT2592234	hsa-miR-2113	CLIP-seq
MIRT2592235	hsa-miR-2117	CLIP-seq
MIRT2592236	hsa-miR-215	CLIP-seq
MIRT1227801	hsa-miR-219-2-3p	CLIP-seq
MIRT1227803	hsa-miR-2964a-3p	CLIP-seq
MIRT2592237	hsa-miR-2964a-5p	CLIP-seq
MIRT2592238	hsa-miR-3124-3p	CLIP-seq
MIRT2592239	hsa-miR-3129-5p	CLIP-seq
MIRT1227811	hsa-miR-3133	CLIP-seq
MIRT2066685	hsa-miR-3137	CLIP-seq
MIRT1227814	hsa-miR-3174	CLIP-seq
MIRT2592240	hsa-miR-3189-3p	CLIP-seq
MIRT1227817	hsa-miR-323-3p	CLIP-seq
MIRT1227821	hsa-miR-340	CLIP-seq
MIRT1227822	hsa-miR-3591-5p	CLIP-seq
MIRT1227823	hsa-miR-3606	CLIP-seq
MIRT2592241	hsa-miR-3664-3p	CLIP-seq
MIRT1227827	hsa-miR-3672	CLIP-seq
MIRT2066687	hsa-miR-3686	CLIP-seq
MIRT1227828	hsa-miR-375	CLIP-seq
MIRT2592242	hsa-miR-409-5p	CLIP-seq
MIRT1227832	hsa-miR-4255	CLIP-seq
MIRT2592243	hsa-miR-4273	CLIP-seq
MIRT1227837	hsa-miR-4326	CLIP-seq
MIRT2592244	hsa-miR-4328	CLIP-seq
MIRT1227839	hsa-miR-4422	CLIP-seq
MIRT1227844	hsa-miR-4499	CLIP-seq
MIRT2592245	hsa-miR-4518	CLIP-seq
MIRT2592246	hsa-miR-4528	CLIP-seq
MIRT2592247	hsa-miR-4540	CLIP-seq
MIRT2592248	hsa-miR-4645-3p	CLIP-seq
MIRT1227847	hsa-miR-4652-3p	CLIP-seq
MIRT2592249	hsa-miR-4660	CLIP-seq
MIRT2592250	hsa-miR-4691-5p	CLIP-seq
MIRT2066694	hsa-miR-4775	CLIP-seq
MIRT1227858	hsa-miR-4778-5p	CLIP-seq
MIRT2592251	hsa-miR-4781-3p	CLIP-seq
MIRT2592252	hsa-miR-490-3p	CLIP-seq
MIRT1227909	hsa-miR-513a-3p	CLIP-seq
MIRT2592253	hsa-miR-513c	CLIP-seq
MIRT2592254	hsa-miR-514b-5p	CLIP-seq
MIRT2592255	hsa-miR-548u	CLIP-seq
MIRT2592256	hsa-miR-554	CLIP-seq
MIRT1227871	hsa-miR-568	CLIP-seq
MIRT1227873	hsa-miR-582-5p	CLIP-seq
MIRT2066697	hsa-miR-590-3p	CLIP-seq
MIRT2592257	hsa-miR-599	CLIP-seq
MIRT2592258	hsa-miR-635	CLIP-seq
MIRT2592259	hsa-miR-654-3p	CLIP-seq
MIRT2592260	hsa-miR-758	CLIP-seq
MIRT1227916	hsa-miR-877	CLIP-seq
MIRT1227880	hsa-miR-921	CLIP-seq
MIRT2592227	hsa-miR-1238	CLIP-seq
MIRT1227796	hsa-miR-142-5p	CLIP-seq
MIRT1227797	hsa-miR-186	CLIP-seq
MIRT2592230	hsa-miR-1912	CLIP-seq
MIRT2592231	hsa-miR-192	CLIP-seq
MIRT2592234	hsa-miR-2113	CLIP-seq
MIRT2592235	hsa-miR-2117	CLIP-seq
MIRT2592236	hsa-miR-215	CLIP-seq
MIRT1227801	hsa-miR-219-2-3p	CLIP-seq
MIRT1227803	hsa-miR-2964a-3p	CLIP-seq
MIRT2592238	hsa-miR-3124-3p	CLIP-seq
MIRT1227811	hsa-miR-3133	CLIP-seq
MIRT2066685	hsa-miR-3137	CLIP-seq
MIRT1227814	hsa-miR-3174	CLIP-seq
MIRT2592240	hsa-miR-3189-3p	CLIP-seq
MIRT1227817	hsa-miR-323-3p	CLIP-seq
MIRT1227821	hsa-miR-340	CLIP-seq
MIRT1227822	hsa-miR-3591-5p	CLIP-seq
MIRT1227823	hsa-miR-3606	CLIP-seq
MIRT1227824	hsa-miR-3653	CLIP-seq
MIRT1227825	hsa-miR-3658	CLIP-seq
MIRT1227827	hsa-miR-3672	CLIP-seq
MIRT2066687	hsa-miR-3686	CLIP-seq
MIRT1227828	hsa-miR-375	CLIP-seq
MIRT2592242	hsa-miR-409-5p	CLIP-seq
MIRT1227832	hsa-miR-4255	CLIP-seq
MIRT2592243	hsa-miR-4273	CLIP-seq
MIRT1227837	hsa-miR-4326	CLIP-seq
MIRT1227839	hsa-miR-4422	CLIP-seq
MIRT1227844	hsa-miR-4499	CLIP-seq
MIRT2592247	hsa-miR-4540	CLIP-seq
MIRT1227847	hsa-miR-4652-3p	CLIP-seq
MIRT2592250	hsa-miR-4691-5p	CLIP-seq
MIRT1227856	hsa-miR-4768-5p	CLIP-seq
MIRT2066694	hsa-miR-4775	CLIP-seq
MIRT1227858	hsa-miR-4778-5p	CLIP-seq
MIRT2592251	hsa-miR-4781-3p	CLIP-seq
MIRT1227909	hsa-miR-513a-3p	CLIP-seq
MIRT2592256	hsa-miR-554	CLIP-seq
MIRT1227871	hsa-miR-568	CLIP-seq
MIRT2066697	hsa-miR-590-3p	CLIP-seq
MIRT2687747	hsa-miR-649	CLIP-seq
MIRT2592260	hsa-miR-758	CLIP-seq
MIRT1227916	hsa-miR-877	CLIP-seq
MIRT1227880	hsa-miR-921	CLIP-seq
MIRT1227880	hsa-miR-921	CLIP-seq

Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IEA
GO:0004610	Function	Phosphoacetylglucosamine mutase activity	IBA
GO:0004610	Function	Phosphoacetylglucosamine mutase activity	IDA	11004509
GO:0004610	Function	Phosphoacetylglucosamine mutase activity	IEA
GO:0004610	Function	Phosphoacetylglucosamine mutase activity	IMP	24589341
GO:0004610	Function	Phosphoacetylglucosamine mutase activity	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006041	Process	Glucosamine metabolic process	NAS	11004509
GO:0006048	Process	UDP-N-acetylglucosamine biosynthetic process	IBA
GO:0006048	Process	UDP-N-acetylglucosamine biosynthetic process	IEA
GO:0006048	Process	UDP-N-acetylglucosamine biosynthetic process	IEA
GO:0006048	Process	UDP-N-acetylglucosamine biosynthetic process	IMP	24589341
GO:0006048	Process	UDP-N-acetylglucosamine biosynthetic process	TAS
GO:0006487	Process	Protein N-linked glycosylation	IMP	24589341
GO:0006493	Process	Protein O-linked glycosylation	IMP	24589341
GO:0007283	Process	Spermatogenesis	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016868	Function	Intramolecular phosphotransferase activity	IEA
GO:0030097	Process	Hemopoiesis	IBA
GO:0030097	Process	Hemopoiesis	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
172100	8907	ENSG00000013375

O95394

Protein name

Phosphoacetylglucosamine mutase (PAGM) (EC 5.4.2.3) (Acetylglucosamine phosphomutase) (N-acetylglucosamine-phosphate mutase) (Phosphoglucomutase-3) (PGM 3)

Protein function

Catalyzes the conversion of GlcNAc-6-P into GlcNAc-1-P during the synthesis of uridine diphosphate/UDP-GlcNAc, a sugar nucleotide critical to multiple glycosylation pathways including protein N- and O-glycosylation. {ECO:0000303|PubMed:24589341,

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02878	PGM_PMM_I	44 → 102	Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I	Domain
PF02878	PGM_PMM_I	103 → 198	Phosphoglucomutase/phosphomannomutase, alpha/beta/alpha domain I	Domain
PF00408	PGM_PMM_IV	431 → 528	Phosphoglucomutase/phosphomannomutase, C-terminal domain	Family

Tissue specificity

TISSUE SPECIFICITY: Found in many tissues except lung. Relatively high expression in pancreas, heart, liver, and placenta, and relatively low expression in brain, skeletal muscle and kidney. {ECO:0000269|PubMed:10721701}.

Sequence

MDLGAITKYSALHAKPNGLILQYGTAGFRTKAEHLDHVMFRMGLLAVLRSKQTKSTIGVM
VTASHNPEEDNGVKLVDPLGEMLAPSWEEHATCLANAEEQDMQRVLIDISEKEAVNLQQD
AFVVIGRDTRPSSEKLSQSVIDGVTVLGGQFHDYGLLTTPQLHYMVYCRNTGGRYGKATI
EGYYQKLSKAFVELTKQASCSGDEYRSLKVDCANGIGALKLREMEHYFSQGLSVQLFNDG
SKGKLNHLCGADFVKSHQKPPQGMEIKSNERCCSFDGDADRIVYYYHDADGHFHLIDGDK
IATLISSFLKELLVEIGESLNIGVVQTAYANGSSTRYLEEVMKVPVYCTKTGVKHLHHKA
QEFDIGVYFEANGHGTALFSTAVEMKIKQSAEQLEDKKRKAAKMLENIIDLFNQAAGDAI
SDMLVIEAILALKGLTVQQWDALYTDLPNRQLKVQVADRRVISTTDAERQAVTPPGLQEA
INDLVKKYKLSRAFVRPSGTEDVVRVYAEADSQESADHLAHEVSLAVFQLAGGIGERPQP
GF

Sequence length

542

Interactions

View interactions

	KEGG		Reactome
	Amino sugar and nucleotide sugar metabolism Metabolic pathways Biosynthesis of nucleotide sugars		Synthesis of UDP-N-acetyl-glucosamine

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 (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hyper-IgE syndrome	Pathogenic; Likely pathogenic	rs267608260, rs267608261, rs267608259	RCV000144537 RCV000144536 RCV000144535	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Immunodeficiency 23	Pathogenic; Likely pathogenic	rs1293351659, rs2128497316, rs2128504331, rs565900346, rs777118863, rs587777413, rs587777414, rs587777415, rs587777416, rs267608260, rs267608261, rs1483237450, rs2128509412, rs2128506370, rs587777562 View all (38 more)	RCV001383959 RCV001386408 RCV001383524 RCV003746597 RCV001910246 View all (49 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PGM3-related disorder	Pathogenic	rs759187140, rs1404084330	RCV004755013 RCV003900362	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe combined immunodeficiency disease	Likely pathogenic; Pathogenic	rs565900346, rs587777562, rs1786839596, rs2538234398, rs764377394, rs759187140, rs144104577	RCV001733378 RCV004700435 RCV002266321 RCV003155837 RCV003487265 RCV004765963 RCV003226337 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (5)

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.
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE COMBINED IMMUNODEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (79)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Allergic rhinitis (disorder)	Allergic rhinitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	24589341	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	25956014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	28543917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29515119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortex myoclonus	Cerebral Cortex Myoclonus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	25956014		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	39596612	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35723049	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	24931394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	24589341, 24931394, 26482871, 31231132	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	24931394, 27393411, 28704707, 31095764, 31231132		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	1190732, 8902481		★★★★★ ★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	24589341	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	26687240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Desbuquois syndrome	Desbuquois Syndrome	BEFREE	28543917		★★★★★ ★☆☆☆☆ Found in Text Mining only
Desbuquois syndrome	Desbuquois syndrome	Pubtator	28543917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	24698316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	25365149, 26687240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	30157810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis, Membranoproliferative	Glomerulonephritis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	26482871	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	28543917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyper-Immunoglobulin E Syndrome, Autosomal Dominant	STAT3 Deficiency	BEFREE	30043993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	28543917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	24589341, 34653276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 23	Immunodeficiency	ORPHANET_DG	24589341, 24931394		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 23	Immunodeficiency	UNIPROT_DG	24589341, 24698316, 24931394		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 23	Immunodeficiency	GENOMICS_ENGLAND_DG	24698316, 24931394, 25529582		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 23	Immunodeficiency	CLINVAR_DG	24931394		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 23	Immunodeficiency	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	26482871, 30157810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	24589341, 24931394, 30157810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25529582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	28543917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Obstruction	Intestinal obstruction	Pubtator	28543917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lactose Intolerance	Lactose Intolerance	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Promyelocytic Acute	Promyelocytic leukemia	Pubtator	9354674	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	28543917	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29515119		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29329103		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	24931394	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	24931394, 28543917, 30157810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	28543917		★★★★★ ★☆☆☆☆ Found in Text Mining only
PGM3-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	26482871		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	24698316	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	28543917	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	24931394, 28543917, 30157810		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	30157810	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vasculitis of the skin	Vasculitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PGM3 (phosphoglucomutase 3)