GLUD1 (glutamate dehydrogenase 1)

Gene

• Entrez ID: 2746
• Gene name: Glutamate dehydrogenase 1
• Gene symbol: GLUD1
• Synonyms (NCBI Gene): GDH, GDH1, GLUD, hGDH1
• Chromosome: 10
• Chromosome location: 10q23.2
• Summary: This gene encodes glutamate dehydrogenase, which is a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid-induced insulin secretio

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs56275071	G>A	Pathogenic	Missense variant, coding sequence variant
rs121909730	G>A	Pathogenic	Missense variant, coding sequence variant
rs121909731	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121909732	A>G	Pathogenic	Missense variant, coding sequence variant
rs121909733	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909734	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs121909735	T>G	Pathogenic	Missense variant, coding sequence variant
rs121909736	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909737	C>T	Pathogenic	Missense variant, coding sequence variant
rs797045597	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554906133	T>C	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT048701	hsa-miR-99a-5p	CLASH	23622248
MIRT045359	hsa-miR-185-5p	CLASH	23622248
MIRT041407	hsa-miR-193b-3p	CLASH	23622248
MIRT038802	hsa-miR-93-3p	CLASH	23622248
MIRT724259	hsa-miR-7151-5p	HITS-CLIP	19536157
MIRT724258	hsa-miR-126-5p	HITS-CLIP	19536157
MIRT724257	hsa-miR-885-5p	HITS-CLIP	19536157
MIRT724256	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT724255	hsa-miR-4477a	HITS-CLIP	19536157
MIRT724254	hsa-miR-580-3p	HITS-CLIP	19536157
MIRT724253	hsa-miR-653-5p	HITS-CLIP	19536157
MIRT490455	hsa-miR-3606-3p	PAR-CLIP	23592263
MIRT490454	hsa-miR-513a-3p	PAR-CLIP	23592263
MIRT490453	hsa-miR-513c-3p	PAR-CLIP	23592263
MIRT490452	hsa-miR-7515	PAR-CLIP	23592263
MIRT490451	hsa-miR-3179	PAR-CLIP	23592263
MIRT490450	hsa-miR-4424	PAR-CLIP	23592263
MIRT490449	hsa-miR-609	PAR-CLIP	23592263
MIRT490448	hsa-miR-4694-5p	PAR-CLIP	23592263
MIRT490447	hsa-miR-3152-3p	PAR-CLIP	23592263
MIRT490446	hsa-miR-6864-5p	PAR-CLIP	23592263
MIRT490445	hsa-miR-4762-3p	PAR-CLIP	23592263
MIRT724259	hsa-miR-7151-5p	HITS-CLIP	19536157
MIRT724258	hsa-miR-126-5p	HITS-CLIP	19536157
MIRT724257	hsa-miR-885-5p	HITS-CLIP	19536157
MIRT724256	hsa-miR-4790-3p	HITS-CLIP	19536157
MIRT724255	hsa-miR-4477a	HITS-CLIP	19536157
MIRT724254	hsa-miR-580-3p	HITS-CLIP	19536157
MIRT724253	hsa-miR-653-5p	HITS-CLIP	19536157
MIRT490455	hsa-miR-3606-3p	PAR-CLIP	23592263
MIRT490454	hsa-miR-513a-3p	PAR-CLIP	23592263
MIRT490453	hsa-miR-513c-3p	PAR-CLIP	23592263
MIRT490452	hsa-miR-7515	PAR-CLIP	23592263
MIRT490451	hsa-miR-3179	PAR-CLIP	23592263
MIRT490450	hsa-miR-4424	PAR-CLIP	23592263
MIRT490449	hsa-miR-609	PAR-CLIP	23592263
MIRT490448	hsa-miR-4694-5p	PAR-CLIP	23592263
MIRT490447	hsa-miR-3152-3p	PAR-CLIP	23592263
MIRT490446	hsa-miR-6864-5p	PAR-CLIP	23592263
MIRT490445	hsa-miR-4762-3p	PAR-CLIP	23592263
MIRT1021882	hsa-miR-103a	CLIP-seq
MIRT1021883	hsa-miR-107	CLIP-seq
MIRT1021884	hsa-miR-1226	CLIP-seq
MIRT1021885	hsa-miR-1269	CLIP-seq
MIRT1021886	hsa-miR-1269b	CLIP-seq
MIRT1021887	hsa-miR-1273g	CLIP-seq
MIRT1021888	hsa-miR-1277	CLIP-seq
MIRT1021889	hsa-miR-1288	CLIP-seq
MIRT1021890	hsa-miR-15a	CLIP-seq
MIRT1021891	hsa-miR-15b	CLIP-seq
MIRT1021892	hsa-miR-16	CLIP-seq
MIRT1021893	hsa-miR-185	CLIP-seq
MIRT1021894	hsa-miR-195	CLIP-seq
MIRT1021895	hsa-miR-2053	CLIP-seq
MIRT1021896	hsa-miR-219-5p	CLIP-seq
MIRT1021897	hsa-miR-2355-5p	CLIP-seq
MIRT1021898	hsa-miR-3117-5p	CLIP-seq
MIRT1021899	hsa-miR-3119	CLIP-seq
MIRT1021900	hsa-miR-3120-3p	CLIP-seq
MIRT1021901	hsa-miR-3136-5p	CLIP-seq
MIRT1021902	hsa-miR-3140-3p	CLIP-seq
MIRT1021903	hsa-miR-3144-5p	CLIP-seq
MIRT1021904	hsa-miR-3147	CLIP-seq
MIRT1021905	hsa-miR-3148	CLIP-seq
MIRT1021906	hsa-miR-3153	CLIP-seq
MIRT1021907	hsa-miR-3163	CLIP-seq
MIRT1021908	hsa-miR-3167	CLIP-seq
MIRT1021909	hsa-miR-3173-3p	CLIP-seq
MIRT1021910	hsa-miR-3188	CLIP-seq
MIRT1021911	hsa-miR-3191	CLIP-seq
MIRT1021912	hsa-miR-320a	CLIP-seq
MIRT1021913	hsa-miR-320b	CLIP-seq
MIRT1021914	hsa-miR-320c	CLIP-seq
MIRT1021915	hsa-miR-320d	CLIP-seq
MIRT1021916	hsa-miR-345	CLIP-seq
MIRT1021917	hsa-miR-3647-3p	CLIP-seq
MIRT1021918	hsa-miR-3657	CLIP-seq
MIRT1021919	hsa-miR-3660	CLIP-seq
MIRT1021920	hsa-miR-3665	CLIP-seq
MIRT1021921	hsa-miR-3941	CLIP-seq
MIRT1021922	hsa-miR-3978	CLIP-seq
MIRT1021923	hsa-miR-409-5p	CLIP-seq
MIRT1021924	hsa-miR-424	CLIP-seq
MIRT1021925	hsa-miR-4256	CLIP-seq
MIRT1021926	hsa-miR-4279	CLIP-seq
MIRT1021927	hsa-miR-4302	CLIP-seq
MIRT1021928	hsa-miR-4306	CLIP-seq
MIRT1021929	hsa-miR-4326	CLIP-seq
MIRT1021930	hsa-miR-4328	CLIP-seq
MIRT1021931	hsa-miR-4425	CLIP-seq
MIRT1021932	hsa-miR-4429	CLIP-seq
MIRT1021933	hsa-miR-4433	CLIP-seq
MIRT1021934	hsa-miR-4439	CLIP-seq
MIRT1021935	hsa-miR-4445	CLIP-seq
MIRT1021936	hsa-miR-4459	CLIP-seq
MIRT1021937	hsa-miR-4484	CLIP-seq
MIRT1021938	hsa-miR-450b-5p	CLIP-seq
MIRT1021939	hsa-miR-4515	CLIP-seq
MIRT1021940	hsa-miR-452	CLIP-seq
MIRT1021941	hsa-miR-4520b-3p	CLIP-seq
MIRT1021942	hsa-miR-4522	CLIP-seq
MIRT1021943	hsa-miR-4526	CLIP-seq
MIRT1021944	hsa-miR-4529-3p	CLIP-seq
MIRT1021945	hsa-miR-4643	CLIP-seq
MIRT1021946	hsa-miR-4644	CLIP-seq
MIRT1021947	hsa-miR-4645-3p	CLIP-seq
MIRT1021948	hsa-miR-4652-3p	CLIP-seq
MIRT1021949	hsa-miR-4652-5p	CLIP-seq
MIRT1021950	hsa-miR-4656	CLIP-seq
MIRT1021951	hsa-miR-466	CLIP-seq
MIRT1021952	hsa-miR-4668-5p	CLIP-seq
MIRT1021953	hsa-miR-4669	CLIP-seq
MIRT1021954	hsa-miR-4672	CLIP-seq
MIRT1021955	hsa-miR-4676-3p	CLIP-seq
MIRT1021956	hsa-miR-4691-5p	CLIP-seq
MIRT1021957	hsa-miR-4695-5p	CLIP-seq
MIRT1021958	hsa-miR-4699-5p	CLIP-seq
MIRT1021959	hsa-miR-4708-3p	CLIP-seq
MIRT1021960	hsa-miR-4733-3p	CLIP-seq
MIRT1021961	hsa-miR-4740-5p	CLIP-seq
MIRT1021962	hsa-miR-4761-5p	CLIP-seq
MIRT1021963	hsa-miR-4768-3p	CLIP-seq
MIRT1021964	hsa-miR-4782-3p	CLIP-seq
MIRT1021965	hsa-miR-4789-3p	CLIP-seq
MIRT1021966	hsa-miR-4799-5p	CLIP-seq
MIRT1021967	hsa-miR-487a	CLIP-seq
MIRT1021968	hsa-miR-497	CLIP-seq
MIRT1021969	hsa-miR-507	CLIP-seq
MIRT1021970	hsa-miR-508-3p	CLIP-seq
MIRT1021971	hsa-miR-548an	CLIP-seq
MIRT1021972	hsa-miR-548c-3p	CLIP-seq
MIRT1021973	hsa-miR-556-3p	CLIP-seq
MIRT1021974	hsa-miR-557	CLIP-seq
MIRT1021975	hsa-miR-561	CLIP-seq
MIRT1021976	hsa-miR-577	CLIP-seq
MIRT1021977	hsa-miR-580	CLIP-seq
MIRT1021978	hsa-miR-582-5p	CLIP-seq
MIRT1021979	hsa-miR-590-3p	CLIP-seq
MIRT1021980	hsa-miR-600	CLIP-seq
MIRT1021981	hsa-miR-627	CLIP-seq
MIRT1021982	hsa-miR-628-5p	CLIP-seq
MIRT1021983	hsa-miR-653	CLIP-seq
MIRT1021984	hsa-miR-656	CLIP-seq
MIRT1021985	hsa-miR-657	CLIP-seq
MIRT1021986	hsa-miR-876-5p	CLIP-seq
MIRT1021987	hsa-miR-890	CLIP-seq
MIRT1021988	hsa-miR-9	CLIP-seq
MIRT1021989	hsa-miR-943	CLIP-seq
MIRT1021990	hsa-miR-944	CLIP-seq
MIRT1021884	hsa-miR-1226	CLIP-seq
MIRT2002820	hsa-miR-1244	CLIP-seq
MIRT1021887	hsa-miR-1273g	CLIP-seq
MIRT1021893	hsa-miR-185	CLIP-seq
MIRT1021898	hsa-miR-3117-5p	CLIP-seq
MIRT1021899	hsa-miR-3119	CLIP-seq
MIRT1021903	hsa-miR-3144-5p	CLIP-seq
MIRT1021904	hsa-miR-3147	CLIP-seq
MIRT1021906	hsa-miR-3153	CLIP-seq
MIRT1021908	hsa-miR-3167	CLIP-seq
MIRT1021911	hsa-miR-3191	CLIP-seq
MIRT2002821	hsa-miR-3646	CLIP-seq
MIRT2002822	hsa-miR-377	CLIP-seq
MIRT1021921	hsa-miR-3941	CLIP-seq
MIRT2002823	hsa-miR-3973	CLIP-seq
MIRT1021923	hsa-miR-409-5p	CLIP-seq
MIRT1021926	hsa-miR-4279	CLIP-seq
MIRT1021928	hsa-miR-4306	CLIP-seq
MIRT1021931	hsa-miR-4425	CLIP-seq
MIRT1021933	hsa-miR-4433	CLIP-seq
MIRT2002824	hsa-miR-4452	CLIP-seq
MIRT2002825	hsa-miR-4454	CLIP-seq
MIRT1021936	hsa-miR-4459	CLIP-seq
MIRT2002826	hsa-miR-4495	CLIP-seq
MIRT1021940	hsa-miR-452	CLIP-seq
MIRT1021942	hsa-miR-4522	CLIP-seq
MIRT1021945	hsa-miR-4643	CLIP-seq
MIRT1021946	hsa-miR-4644	CLIP-seq
MIRT1021948	hsa-miR-4652-3p	CLIP-seq
MIRT1021949	hsa-miR-4652-5p	CLIP-seq
MIRT1021950	hsa-miR-4656	CLIP-seq
MIRT1021951	hsa-miR-466	CLIP-seq
MIRT2002827	hsa-miR-4666-5p	CLIP-seq
MIRT1021952	hsa-miR-4668-5p	CLIP-seq
MIRT1021954	hsa-miR-4672	CLIP-seq
MIRT1021955	hsa-miR-4676-3p	CLIP-seq
MIRT1021959	hsa-miR-4708-3p	CLIP-seq
MIRT1021960	hsa-miR-4733-3p	CLIP-seq
MIRT1021963	hsa-miR-4768-3p	CLIP-seq
MIRT2002828	hsa-miR-4775	CLIP-seq
MIRT1021965	hsa-miR-4789-3p	CLIP-seq
MIRT2002829	hsa-miR-512-5p	CLIP-seq
MIRT2002830	hsa-miR-520d-5p	CLIP-seq
MIRT2002831	hsa-miR-524-5p	CLIP-seq
MIRT1021980	hsa-miR-600	CLIP-seq
MIRT1021984	hsa-miR-656	CLIP-seq
MIRT1021986	hsa-miR-876-5p	CLIP-seq
MIRT1021987	hsa-miR-890	CLIP-seq
MIRT2002832	hsa-miR-935	CLIP-seq
MIRT1021882	hsa-miR-103a	CLIP-seq
MIRT1021883	hsa-miR-107	CLIP-seq
MIRT2235820	hsa-miR-1208	CLIP-seq
MIRT2235821	hsa-miR-1224-5p	CLIP-seq
MIRT1021884	hsa-miR-1226	CLIP-seq
MIRT2002820	hsa-miR-1244	CLIP-seq
MIRT1021887	hsa-miR-1273g	CLIP-seq
MIRT2235822	hsa-miR-1302	CLIP-seq
MIRT2235823	hsa-miR-140-5p	CLIP-seq
MIRT1021890	hsa-miR-15a	CLIP-seq
MIRT1021891	hsa-miR-15b	CLIP-seq
MIRT1021892	hsa-miR-16	CLIP-seq
MIRT2235824	hsa-miR-182	CLIP-seq
MIRT1021894	hsa-miR-195	CLIP-seq
MIRT1021895	hsa-miR-2053	CLIP-seq
MIRT1021896	hsa-miR-219-5p	CLIP-seq
MIRT1021897	hsa-miR-2355-5p	CLIP-seq
MIRT2235825	hsa-miR-30a	CLIP-seq
MIRT2235826	hsa-miR-30b	CLIP-seq
MIRT2235827	hsa-miR-30c	CLIP-seq
MIRT2235828	hsa-miR-30d	CLIP-seq
MIRT2235829	hsa-miR-30e	CLIP-seq
MIRT1021898	hsa-miR-3117-5p	CLIP-seq
MIRT1021900	hsa-miR-3120-3p	CLIP-seq
MIRT1021903	hsa-miR-3144-5p	CLIP-seq
MIRT2235830	hsa-miR-3145-5p	CLIP-seq
MIRT1021904	hsa-miR-3147	CLIP-seq
MIRT1021906	hsa-miR-3153	CLIP-seq
MIRT2235831	hsa-miR-3157-5p	CLIP-seq
MIRT1021908	hsa-miR-3167	CLIP-seq
MIRT2235832	hsa-miR-3174	CLIP-seq
MIRT1021911	hsa-miR-3191	CLIP-seq
MIRT2235833	hsa-miR-3192	CLIP-seq
MIRT2235834	hsa-miR-3194-5p	CLIP-seq
MIRT2235835	hsa-miR-3614-5p	CLIP-seq
MIRT2002821	hsa-miR-3646	CLIP-seq
MIRT1021918	hsa-miR-3657	CLIP-seq
MIRT1021920	hsa-miR-3665	CLIP-seq
MIRT2235836	hsa-miR-3680	CLIP-seq
MIRT2235837	hsa-miR-3689a-5p	CLIP-seq
MIRT2235838	hsa-miR-3689b	CLIP-seq
MIRT2235839	hsa-miR-3689e	CLIP-seq
MIRT2235840	hsa-miR-3689f	CLIP-seq
MIRT2002822	hsa-miR-377	CLIP-seq
MIRT2235841	hsa-miR-3915	CLIP-seq
MIRT2235842	hsa-miR-3928	CLIP-seq
MIRT2002823	hsa-miR-3973	CLIP-seq
MIRT1021923	hsa-miR-409-5p	CLIP-seq
MIRT1021924	hsa-miR-424	CLIP-seq
MIRT2235843	hsa-miR-4270	CLIP-seq
MIRT1021926	hsa-miR-4279	CLIP-seq
MIRT2235844	hsa-miR-4298	CLIP-seq
MIRT1021927	hsa-miR-4302	CLIP-seq
MIRT2235845	hsa-miR-4314	CLIP-seq
MIRT1021929	hsa-miR-4326	CLIP-seq
MIRT2235846	hsa-miR-4420	CLIP-seq
MIRT1021931	hsa-miR-4425	CLIP-seq
MIRT2235847	hsa-miR-4441	CLIP-seq
MIRT1021935	hsa-miR-4445	CLIP-seq
MIRT1021937	hsa-miR-4484	CLIP-seq
MIRT2002826	hsa-miR-4495	CLIP-seq
MIRT1021938	hsa-miR-450b-5p	CLIP-seq
MIRT1021940	hsa-miR-452	CLIP-seq
MIRT2235848	hsa-miR-4646-5p	CLIP-seq
MIRT1021948	hsa-miR-4652-3p	CLIP-seq
MIRT1021949	hsa-miR-4652-5p	CLIP-seq
MIRT1021950	hsa-miR-4656	CLIP-seq
MIRT2002827	hsa-miR-4666-5p	CLIP-seq
MIRT1021952	hsa-miR-4668-5p	CLIP-seq
MIRT1021953	hsa-miR-4669	CLIP-seq
MIRT1021955	hsa-miR-4676-3p	CLIP-seq
MIRT2235849	hsa-miR-4689	CLIP-seq
MIRT1021956	hsa-miR-4691-5p	CLIP-seq
MIRT1021959	hsa-miR-4708-3p	CLIP-seq
MIRT1021960	hsa-miR-4733-3p	CLIP-seq
MIRT2235850	hsa-miR-4751	CLIP-seq
MIRT1021962	hsa-miR-4761-5p	CLIP-seq
MIRT2002828	hsa-miR-4775	CLIP-seq
MIRT1021964	hsa-miR-4782-3p	CLIP-seq
MIRT1021968	hsa-miR-497	CLIP-seq
MIRT1021969	hsa-miR-507	CLIP-seq
MIRT1021970	hsa-miR-508-3p	CLIP-seq
MIRT2002829	hsa-miR-512-5p	CLIP-seq
MIRT2002830	hsa-miR-520d-5p	CLIP-seq
MIRT2002831	hsa-miR-524-5p	CLIP-seq
MIRT1021971	hsa-miR-548an	CLIP-seq
MIRT1021973	hsa-miR-556-3p	CLIP-seq
MIRT1021974	hsa-miR-557	CLIP-seq
MIRT1021977	hsa-miR-580	CLIP-seq
MIRT1021978	hsa-miR-582-5p	CLIP-seq
MIRT1021979	hsa-miR-590-3p	CLIP-seq
MIRT1021981	hsa-miR-627	CLIP-seq
MIRT1021983	hsa-miR-653	CLIP-seq
MIRT1021984	hsa-miR-656	CLIP-seq
MIRT1021985	hsa-miR-657	CLIP-seq
MIRT1021986	hsa-miR-876-5p	CLIP-seq
MIRT1021987	hsa-miR-890	CLIP-seq
MIRT2235851	hsa-miR-921	CLIP-seq
MIRT2002832	hsa-miR-935	CLIP-seq
MIRT1021990	hsa-miR-944	CLIP-seq
MIRT2539717	hsa-miR-1287	CLIP-seq
MIRT1021899	hsa-miR-3119	CLIP-seq
MIRT2539718	hsa-miR-3135b	CLIP-seq
MIRT2539719	hsa-miR-3158-3p	CLIP-seq
MIRT2539720	hsa-miR-346	CLIP-seq
MIRT1021917	hsa-miR-3647-3p	CLIP-seq
MIRT1021920	hsa-miR-3665	CLIP-seq
MIRT2539721	hsa-miR-4288	CLIP-seq
MIRT1021930	hsa-miR-4328	CLIP-seq
MIRT1021938	hsa-miR-450b-5p	CLIP-seq
MIRT2539722	hsa-miR-4638-3p	CLIP-seq
MIRT1021947	hsa-miR-4645-3p	CLIP-seq
MIRT1021958	hsa-miR-4699-5p	CLIP-seq
MIRT1021969	hsa-miR-507	CLIP-seq
MIRT1021974	hsa-miR-557	CLIP-seq
MIRT2539723	hsa-miR-632	CLIP-seq
MIRT2539724	hsa-miR-654-3p	CLIP-seq
MIRT1021985	hsa-miR-657	CLIP-seq
MIRT1021990	hsa-miR-944	CLIP-seq
MIRT2539717	hsa-miR-1287	CLIP-seq
MIRT1021899	hsa-miR-3119	CLIP-seq
MIRT2539718	hsa-miR-3135b	CLIP-seq
MIRT2539719	hsa-miR-3158-3p	CLIP-seq
MIRT2681667	hsa-miR-3161	CLIP-seq
MIRT1021907	hsa-miR-3163	CLIP-seq
MIRT2539720	hsa-miR-346	CLIP-seq
MIRT2002821	hsa-miR-3646	CLIP-seq
MIRT1021917	hsa-miR-3647-3p	CLIP-seq
MIRT1021920	hsa-miR-3665	CLIP-seq
MIRT2539721	hsa-miR-4288	CLIP-seq
MIRT1021930	hsa-miR-4328	CLIP-seq
MIRT1021938	hsa-miR-450b-5p	CLIP-seq
MIRT2539722	hsa-miR-4638-3p	CLIP-seq
MIRT1021947	hsa-miR-4645-3p	CLIP-seq
MIRT1021958	hsa-miR-4699-5p	CLIP-seq
MIRT1021969	hsa-miR-507	CLIP-seq
MIRT1021972	hsa-miR-548c-3p	CLIP-seq
MIRT1021974	hsa-miR-557	CLIP-seq
MIRT2539723	hsa-miR-632	CLIP-seq
MIRT2539724	hsa-miR-654-3p	CLIP-seq
MIRT1021985	hsa-miR-657	CLIP-seq
MIRT1021990	hsa-miR-944	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004352	Function	Glutamate dehydrogenase (NAD+) activity	IBA	21873635
GO:0004352	Function	Glutamate dehydrogenase (NAD+) activity	IDA	11903050, 15578726
GO:0004353	Function	Glutamate dehydrogenase [NAD(P)+] activity	IDA	11032875
GO:0005515	Function	Protein binding	IPI	16959573
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IDA	11032875
GO:0005737	Component	Cytoplasm	IDA	18688271
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	15578726, 19448744
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA	19448744
GO:0006537	Process	Glutamate biosynthetic process	IDA	11032875
GO:0006538	Process	Glutamate catabolic process	IBA	21873635
GO:0006538	Process	Glutamate catabolic process	IDA	6121377, 11032875
GO:0006541	Process	Glutamine metabolic process	ISS
GO:0008652	Process	Cellular amino acid biosynthetic process	TAS
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0032024	Process	Positive regulation of insulin secretion	IMP	11502802
GO:0042802	Function	Identical protein binding	TAS	11903050
GO:0043531	Function	ADP binding	IDA	12742085
GO:0070403	Function	NAD+ binding	IDA	12193607
GO:0070728	Function	Leucine binding	IDA	12742085
GO:0072350	Process	Tricarboxylic acid metabolic process	ISS

Other IDs

• MIM: 138130
• HGNC: 4335
• e!Ensembl: ENSG00000148672

Protein

• UniProt ID: P00367
• Protein name: Glutamate dehydrogenase 1, mitochondrial (GDH 1) (EC 1.4.1.3)
• Protein function: Mitochondrial glutamate dehydrogenase that catalyzes the conversion of L-glutamate into alpha-ketoglutarate. Plays a key role in glutamine anaplerosis by producing alpha-ketoglutarate, an important intermediate in the tricarboxylic acid cycle (P
• PDB: 1L1F, 1NR1, 6DQG, 7UZM, 8KGY, 8SK8, 8W4J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02812	ELFV_dehydrog_N	112 → 242	Glu/Leu/Phe/Val dehydrogenase, dimerisation domain	Domain
  PF00208	ELFV_dehydrog	263 → 467	Glutamate/Leucine/Phenylalanine/Valine dehydrogenase	Domain

• Sequence:

  MYRYLGEALLLSRAGPAALGSASADSAALLGWARGQPAAAPQPGLALAARRHYSEAVADR
  EDDPNFFKMVEGFFDRGASIVEDKLVEDLRTRESEEQKRNRVRGILRIIKPCNHVLSLSF
  PIRRDDGSWEVIEGYRAQHSQHRTPCKGGIRYSTDVSVDEVKALASLMTYKCAVVDVPFG
  GAKAGVKINPKNYTDNELEKITRRFTMELAKKGFIGPGIDVPAPDMSTGEREMSWIADTY
  ASTIGHYDINAHACVTGKPISQGGIHGRISATGRGVFHGIENFINEASYMSILGMTPGFG
  DKTFVVQGFGNVGLHSMRYLHRFGAKCIAVGESDGSIWNPDGIDPKELEDFKLQHGSILG
  FPKAKPYEGSILEADCDILIPAASEKQLTKSNAPRVKAKIIAEGANGPTTPEADKIFLER
  NIMVIPDLYLNAGGVTVSYFEWLKNLNHVSYGRLTFKYERDSNYHLLMSVQESLERKFGK
  HGGTIPIVPTAEFQDRISGASEKDIVHSGLAYTMERSARQIMRTAMKYNLGLDLRTAAYV
  NAIEKVFKVYNEAGVTFT

• Sequence length: 558

Pathways

KEGG:

Arginine biosynthesis
Alanine, aspartate and glutamate metabolism
Nitrogen metabolism
Metabolic pathways
Carbon metabolism
Necroptosis
Proximal tubule bicarbonate reclamation

Reactome:

Transcriptional activation of mitochondrial biogenesis
Glutamate and glutamine metabolism

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Attention deficit hyperactivity disorder	Attention deficit hyperactivity disorder	rs786205019
Hyperinsulinemic hypoglycemia	Congenital Hyperinsulinism, Hyperinsulinemic hypoglycemia, familial, 6, Hyperinsulinemic hypoglycemia	rs137853103, rs2126234459, rs104894237, rs267607196, rs387906407, rs151344623, rs28936370, rs28938469, rs28936371, rs137852671, rs137852672, rs72559723, rs193922400, rs137852676, rs193922402, rs980458021, rs375717077, rs786200932, rs587783169, rs72559713, rs72559716, rs786204542, rs541269678, rs570388861, rs72559722, rs786204676, rs151344624, rs797045637, rs797045212, rs797045211, rs797045207, rs797045213, rs761749884, rs863225280, rs139964066, rs886039877, rs886041392, rs886041391, rs746480424, rs1057516281, rs1057516317, rs576684889, rs764613146, rs773306994, rs1057516946, rs1057517139, rs1057516591, rs201682634, rs766891274, rs193922405, rs72559715, rs769518471, rs757171524, rs139328569, rs768951263, rs72559718, rs1260178539, rs200670692, rs72559734, rs1554910610, rs1554924035, rs372307320, rs1446306735, rs925231098, rs1554913069, rs1554923999, rs765090096, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1554949176, rs1411638309, rs1008906426, rs758844607, rs1554924540, rs755259997, rs769569410, rs72559730, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1398546361, rs781617345	9571255, 11214910, 25008049, 10636977, 26759084, 23869231, 11297618, 27604308, 27188453, 30306091, 25733449, 20936362
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Epilepsy	Epilepsy	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	11214910
Hyperinsulinism	Hyperinsulinism	rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209, rs761749884, rs797045624, rs863225280, rs139964066, rs1057516281, rs1057516317, rs576684889, rs201682634, rs1350717554, rs768951263, rs1260178539, rs200670692, rs72559734, rs1400535021, rs372307320, rs1554923999, rs751279984, rs1008906426, rs367850779, rs1382448285, rs1564977373, rs750586210, rs1599937180	9571255
Hyperinsulinism-hyperammonemia syndrome	Hyperinsulinism-hyperammonemia syndrome	rs121909730, rs121909731, rs121909734, rs121909735, rs56275071, rs121909737
Mental retardation	Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131

Unknown
Disease term	Disease name	Evidence	References	Source
Specific learning disorder	Specific learning disability			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Adenoma	Associate	27447554
Alzheimer Disease	Associate	19072283
Carcinoma Ductal	Associate	25053597
Carcinoma Hepatocellular	Associate	30176945
Carcinoma Lobular	Associate	25053597
Carcinoma Non Small Cell Lung	Associate	36216131, 36615660
Carcinoma Renal Cell	Inhibit	38245763
Chromosome 3 Linked Frontotemporal Dementia	Associate	32928252
Cognition Disorders	Associate	26759084
Colorectal Neoplasms	Associate	25947346, 27924922, 29416026
Congenital Abnormalities	Associate	30306091
Congenital Hyperinsulinism	Associate	11201367, 23275527, 23345197, 23869231, 25008049, 26758964, 30306091
Death	Associate	24923598
Developmental Disabilities	Associate	26759084
Diabetic Foot	Associate	38287255
Epilepsies Myoclonic	Associate	18321734
Epilepsy	Associate	18321734, 19046187, 19690084, 26759084, 30306091
Epstein Barr Virus Infections	Associate	32727118
Farber Lipogranulomatosis	Associate	27447554
Fatigue Syndrome Chronic	Associate	33669532
Fetal Growth Retardation	Inhibit	19500843
Fibrosis	Associate	36376267
Frontotemporal Dementia	Associate	32928252
Glioblastoma	Associate	36834778, 37100462
Glioma	Associate	36809279, 39272024
HAIR AN syndrome	Associate	18321734, 19690084, 32143698
Harlequin type ichthyosis	Associate	18321734, 19690084, 30306091, 32143698
Hepatitis C	Stimulate	23636801
Hyperammonemia	Associate	11201367, 18321734, 20164212, 28165182, 29648519
Hyperinsulinemic hypoglycemia familial 6	Associate	11600502, 18321734, 26759084, 26839063, 28165182, 28621098, 30367518, 32143698, 35752848
Hyperinsulinism	Associate	19046187, 19690084, 20164212, 28165182, 28621098, 29493090, 30306091, 32143698
Hypoglycemia	Associate	18321734, 28165182, 29648519
hypoglycemic encephalopathy	Associate	30306091
Hypoxia	Associate	32945480
Intellectual Disability	Associate	11201367
Learning Disabilities	Associate	19046187
Leukemia Myeloid Acute	Associate	26785729
Liver Failure	Associate	32945480
Liver Failure Acute	Associate	24923598
Liver Neoplasms	Associate	30176945
Lung Neoplasms	Associate	36216131, 36516759
Mitochondrial Diseases	Associate	24923598
Multiple System Atrophy	Associate	2573605
Neoplasm Metastasis	Associate	25947346, 36516759
Neoplasms	Associate	25053597, 25670081, 25947346, 27447554, 27462778, 27924922, 28811348, 32727118, 36376267, 36615660
Neoplasms	Inhibit	27133130, 38245763
Neoplasms Unknown Primary	Associate	24387319
Neurodegenerative Diseases	Associate	2573605
Oncogene Addiction	Associate	28811348
Ophthalmoplegia painful	Associate	38233749
Ovarian Neoplasms	Associate	36207479
Pheochromocytoma	Associate	35008989
Prostatic Neoplasms	Associate	27462778
Pulmonary Arterial Hypertension	Associate	35145193
Seizures	Associate	11201367, 19046187, 26759084, 28165182, 28621098
Thyroid Cancer Papillary	Associate	27447554
Thyroid Neoplasms	Associate	27447554
Triple Negative Breast Neoplasms	Associate	24427351
Uterine Cervical Neoplasms	Associate	35595754