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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	18
Gene name	4-aminobutyrate aminotransferase
Gene symbol	ABAT
Synonyms (NCBI Gene)	GABA-ATGABATNPD009
Chromosome	16
Chromosome location	16p13.2
Summary	4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD

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SNP ID	Visualize variation	Clinical significance	Consequence
rs121434578	G>A	Pathogenic	Coding sequence variant, missense variant
rs150914629	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs724159990	C>T	Pathogenic	Missense variant, coding sequence variant
rs724159991	T>C	Pathogenic	Missense variant, coding sequence variant
rs724159992	G>A	Pathogenic	Missense variant, coding sequence variant
rs781555217	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs786205496	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057523345	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1330995774	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555492932	A>G	Pathogenic	Splice acceptor variant
rs1555494322	T>C	Pathogenic	Missense variant, coding sequence variant
rs1567300736	G>A	Pathogenic	Splice donor variant
rs1567310537	C>T	Pathogenic	Missense variant, coding sequence variant
rs1567312671	T>G	Pathogenic	Missense variant, coding sequence variant

511

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017324	hsa-miR-335-5p	Microarray	18185580
MIRT724395	hsa-miR-143-3p	HITS-CLIP	19536157
MIRT724394	hsa-miR-4770	HITS-CLIP	19536157
MIRT724393	hsa-miR-6088	HITS-CLIP	19536157
MIRT724392	hsa-miR-3188	HITS-CLIP	19536157
MIRT724391	hsa-miR-516a-3p	HITS-CLIP	19536157
MIRT724390	hsa-miR-516b-3p	HITS-CLIP	19536157
MIRT724389	hsa-miR-7162-5p	HITS-CLIP	19536157
MIRT724388	hsa-miR-4709-3p	HITS-CLIP	19536157
MIRT724387	hsa-miR-4520-3p	HITS-CLIP	19536157
MIRT724386	hsa-miR-4520-2-3p	HITS-CLIP	19536157
MIRT724385	hsa-miR-4529-3p	HITS-CLIP	19536157
MIRT724384	hsa-miR-7850-5p	HITS-CLIP	19536157
MIRT724395	hsa-miR-143-3p	HITS-CLIP	19536157
MIRT724394	hsa-miR-4770	HITS-CLIP	19536157
MIRT724393	hsa-miR-6088	HITS-CLIP	19536157
MIRT724392	hsa-miR-3188	HITS-CLIP	19536157
MIRT724391	hsa-miR-516a-3p	HITS-CLIP	19536157
MIRT724390	hsa-miR-516b-3p	HITS-CLIP	19536157
MIRT724389	hsa-miR-7162-5p	HITS-CLIP	19536157
MIRT724388	hsa-miR-4709-3p	HITS-CLIP	19536157
MIRT724387	hsa-miR-4520-3p	HITS-CLIP	19536157
MIRT724386	hsa-miR-4520-2-3p	HITS-CLIP	19536157
MIRT724385	hsa-miR-4529-3p	HITS-CLIP	19536157
MIRT724384	hsa-miR-7850-5p	HITS-CLIP	19536157
MIRT757642	hsa-miR-1264	CLIP-seq
MIRT757643	hsa-miR-1283	CLIP-seq
MIRT757644	hsa-miR-1321	CLIP-seq
MIRT757645	hsa-miR-200b	CLIP-seq
MIRT757646	hsa-miR-200c	CLIP-seq
MIRT757647	hsa-miR-2110	CLIP-seq
MIRT757648	hsa-miR-3150a-3p	CLIP-seq
MIRT757649	hsa-miR-3192	CLIP-seq
MIRT757650	hsa-miR-3194-3p	CLIP-seq
MIRT757651	hsa-miR-3605-5p	CLIP-seq
MIRT757652	hsa-miR-3611	CLIP-seq
MIRT757653	hsa-miR-3653	CLIP-seq
MIRT757654	hsa-miR-3658	CLIP-seq
MIRT757655	hsa-miR-3670	CLIP-seq
MIRT757656	hsa-miR-3689d	CLIP-seq
MIRT757657	hsa-miR-421	CLIP-seq
MIRT757658	hsa-miR-4251	CLIP-seq
MIRT757659	hsa-miR-4260	CLIP-seq
MIRT757660	hsa-miR-4270	CLIP-seq
MIRT757661	hsa-miR-4271	CLIP-seq
MIRT757662	hsa-miR-429	CLIP-seq
MIRT757663	hsa-miR-4307	CLIP-seq
MIRT757664	hsa-miR-4419a	CLIP-seq
MIRT757665	hsa-miR-4441	CLIP-seq
MIRT757666	hsa-miR-4497	CLIP-seq
MIRT757667	hsa-miR-4505	CLIP-seq
MIRT757668	hsa-miR-4510	CLIP-seq
MIRT757669	hsa-miR-4663	CLIP-seq
MIRT757670	hsa-miR-4682	CLIP-seq
MIRT757671	hsa-miR-4709-5p	CLIP-seq
MIRT757672	hsa-miR-4716-5p	CLIP-seq
MIRT757673	hsa-miR-4720-3p	CLIP-seq
MIRT757674	hsa-miR-4725-3p	CLIP-seq
MIRT757675	hsa-miR-4739	CLIP-seq
MIRT757676	hsa-miR-4756-5p	CLIP-seq
MIRT757677	hsa-miR-4779	CLIP-seq
MIRT757678	hsa-miR-4802-5p	CLIP-seq
MIRT757679	hsa-miR-485-5p	CLIP-seq
MIRT757680	hsa-miR-505	CLIP-seq
MIRT757681	hsa-miR-526b	CLIP-seq
MIRT757682	hsa-miR-555	CLIP-seq
MIRT757683	hsa-miR-634	CLIP-seq
MIRT757684	hsa-miR-765	CLIP-seq
MIRT757685	hsa-miR-1200	CLIP-seq
MIRT757686	hsa-miR-1205	CLIP-seq
MIRT757687	hsa-miR-1238	CLIP-seq
MIRT757688	hsa-miR-124	CLIP-seq
MIRT757689	hsa-miR-1246	CLIP-seq
MIRT757690	hsa-miR-1254	CLIP-seq
MIRT757691	hsa-miR-1257	CLIP-seq
MIRT757642	hsa-miR-1264	CLIP-seq
MIRT757692	hsa-miR-1266	CLIP-seq
MIRT757693	hsa-miR-1271	CLIP-seq
MIRT757694	hsa-miR-1272	CLIP-seq
MIRT757695	hsa-miR-1273e	CLIP-seq
MIRT757643	hsa-miR-1283	CLIP-seq
MIRT757696	hsa-miR-1284	CLIP-seq
MIRT757697	hsa-miR-1286	CLIP-seq
MIRT757698	hsa-miR-1322	CLIP-seq
MIRT757699	hsa-miR-136	CLIP-seq
MIRT757700	hsa-miR-139-5p	CLIP-seq
MIRT757701	hsa-miR-143	CLIP-seq
MIRT757702	hsa-miR-146b-3p	CLIP-seq
MIRT757703	hsa-miR-148a	CLIP-seq
MIRT757704	hsa-miR-148b	CLIP-seq
MIRT757705	hsa-miR-152	CLIP-seq
MIRT757706	hsa-miR-155	CLIP-seq
MIRT757707	hsa-miR-183	CLIP-seq
MIRT757708	hsa-miR-190	CLIP-seq
MIRT757709	hsa-miR-190b	CLIP-seq
MIRT757710	hsa-miR-1913	CLIP-seq
MIRT757711	hsa-miR-21	CLIP-seq
MIRT757712	hsa-miR-216a	CLIP-seq
MIRT757713	hsa-miR-216b	CLIP-seq
MIRT757714	hsa-miR-219-2-3p	CLIP-seq
MIRT757715	hsa-miR-223	CLIP-seq
MIRT757716	hsa-miR-2355-5p	CLIP-seq
MIRT757717	hsa-miR-300	CLIP-seq
MIRT757718	hsa-miR-3074-5p	CLIP-seq
MIRT757719	hsa-miR-3116	CLIP-seq
MIRT757720	hsa-miR-3134	CLIP-seq
MIRT757721	hsa-miR-3138	CLIP-seq
MIRT757722	hsa-miR-3140-3p	CLIP-seq
MIRT757723	hsa-miR-3147	CLIP-seq
MIRT757648	hsa-miR-3150a-3p	CLIP-seq
MIRT757724	hsa-miR-3155	CLIP-seq
MIRT757725	hsa-miR-3155b	CLIP-seq
MIRT757726	hsa-miR-3170	CLIP-seq
MIRT757727	hsa-miR-3173-5p	CLIP-seq
MIRT757728	hsa-miR-3175	CLIP-seq
MIRT757729	hsa-miR-3180-5p	CLIP-seq
MIRT757730	hsa-miR-3189-5p	CLIP-seq
MIRT757731	hsa-miR-3190	CLIP-seq
MIRT757650	hsa-miR-3194-3p	CLIP-seq
MIRT757732	hsa-miR-323-3p	CLIP-seq
MIRT757733	hsa-miR-324-3p	CLIP-seq
MIRT757734	hsa-miR-331-5p	CLIP-seq
MIRT757735	hsa-miR-339-5p	CLIP-seq
MIRT757736	hsa-miR-33a	CLIP-seq
MIRT757737	hsa-miR-33b	CLIP-seq
MIRT757652	hsa-miR-3611	CLIP-seq
MIRT757738	hsa-miR-3646	CLIP-seq
MIRT757739	hsa-miR-3657	CLIP-seq
MIRT757740	hsa-miR-3662	CLIP-seq
MIRT757741	hsa-miR-3664-3p	CLIP-seq
MIRT757742	hsa-miR-3668	CLIP-seq
MIRT757655	hsa-miR-3670	CLIP-seq
MIRT757743	hsa-miR-3690	CLIP-seq
MIRT757744	hsa-miR-369-3p	CLIP-seq
MIRT757745	hsa-miR-371b-3p	CLIP-seq
MIRT757746	hsa-miR-374c	CLIP-seq
MIRT757747	hsa-miR-377	CLIP-seq
MIRT757748	hsa-miR-381	CLIP-seq
MIRT757749	hsa-miR-3909	CLIP-seq
MIRT757750	hsa-miR-3914	CLIP-seq
MIRT757751	hsa-miR-3935	CLIP-seq
MIRT757752	hsa-miR-409-5p	CLIP-seq
MIRT757657	hsa-miR-421	CLIP-seq
MIRT757658	hsa-miR-4251	CLIP-seq
MIRT757753	hsa-miR-4261	CLIP-seq
MIRT757754	hsa-miR-4264	CLIP-seq
MIRT757755	hsa-miR-4308	CLIP-seq
MIRT757756	hsa-miR-4320	CLIP-seq
MIRT757757	hsa-miR-4327	CLIP-seq
MIRT757758	hsa-miR-4418	CLIP-seq
MIRT757759	hsa-miR-448	CLIP-seq
MIRT757760	hsa-miR-4490	CLIP-seq
MIRT757761	hsa-miR-4494	CLIP-seq
MIRT757762	hsa-miR-450b-3p	CLIP-seq
MIRT757763	hsa-miR-450b-5p	CLIP-seq
MIRT757764	hsa-miR-4518	CLIP-seq
MIRT757765	hsa-miR-4520a-3p	CLIP-seq
MIRT757766	hsa-miR-4520b-3p	CLIP-seq
MIRT757767	hsa-miR-4534	CLIP-seq
MIRT757768	hsa-miR-4633-5p	CLIP-seq
MIRT757769	hsa-miR-4638-3p	CLIP-seq
MIRT757669	hsa-miR-4663	CLIP-seq
MIRT757770	hsa-miR-4669	CLIP-seq
MIRT757771	hsa-miR-4678	CLIP-seq
MIRT757670	hsa-miR-4682	CLIP-seq
MIRT757772	hsa-miR-4691-5p	CLIP-seq
MIRT757773	hsa-miR-4697-3p	CLIP-seq
MIRT757774	hsa-miR-4698	CLIP-seq
MIRT757775	hsa-miR-4704-3p	CLIP-seq
MIRT757671	hsa-miR-4709-5p	CLIP-seq
MIRT757672	hsa-miR-4716-5p	CLIP-seq
MIRT757673	hsa-miR-4720-3p	CLIP-seq
MIRT757776	hsa-miR-4722-5p	CLIP-seq
MIRT757777	hsa-miR-4729	CLIP-seq
MIRT757778	hsa-miR-4731-3p	CLIP-seq
MIRT757779	hsa-miR-4731-5p	CLIP-seq
MIRT757780	hsa-miR-4738-3p	CLIP-seq
MIRT757781	hsa-miR-4757-5p	CLIP-seq
MIRT757782	hsa-miR-4758-3p	CLIP-seq
MIRT757783	hsa-miR-4761-5p	CLIP-seq
MIRT757784	hsa-miR-4768-5p	CLIP-seq
MIRT757785	hsa-miR-4778-3p	CLIP-seq
MIRT757786	hsa-miR-4789-5p	CLIP-seq
MIRT757787	hsa-miR-4798-5p	CLIP-seq
MIRT757788	hsa-miR-4800-5p	CLIP-seq
MIRT757789	hsa-miR-4801	CLIP-seq
MIRT757790	hsa-miR-484	CLIP-seq
MIRT757680	hsa-miR-505	CLIP-seq
MIRT757791	hsa-miR-506	CLIP-seq
MIRT757792	hsa-miR-507	CLIP-seq
MIRT757793	hsa-miR-509-3-5p	CLIP-seq
MIRT757794	hsa-miR-509-5p	CLIP-seq
MIRT757795	hsa-miR-510	CLIP-seq
MIRT757796	hsa-miR-512-5p	CLIP-seq
MIRT757797	hsa-miR-520a-5p	CLIP-seq
MIRT757798	hsa-miR-525-5p	CLIP-seq
MIRT757681	hsa-miR-526b	CLIP-seq
MIRT757799	hsa-miR-532-5p	CLIP-seq
MIRT757800	hsa-miR-548c-3p	CLIP-seq
MIRT757801	hsa-miR-548v	CLIP-seq
MIRT757802	hsa-miR-556-5p	CLIP-seq
MIRT757803	hsa-miR-557	CLIP-seq
MIRT757804	hsa-miR-579	CLIP-seq
MIRT757805	hsa-miR-580	CLIP-seq
MIRT757806	hsa-miR-582-5p	CLIP-seq
MIRT757807	hsa-miR-584	CLIP-seq
MIRT757808	hsa-miR-590-5p	CLIP-seq
MIRT757809	hsa-miR-618	CLIP-seq
MIRT757810	hsa-miR-655	CLIP-seq
MIRT757811	hsa-miR-659	CLIP-seq
MIRT757812	hsa-miR-661	CLIP-seq
MIRT757813	hsa-miR-664	CLIP-seq
MIRT757814	hsa-miR-767-5p	CLIP-seq
MIRT757815	hsa-miR-769-3p	CLIP-seq
MIRT757816	hsa-miR-873	CLIP-seq
MIRT757817	hsa-miR-874	CLIP-seq
MIRT757818	hsa-miR-892b	CLIP-seq
MIRT757819	hsa-miR-939	CLIP-seq
MIRT757820	hsa-miR-96	CLIP-seq
MIRT1923442	hsa-miR-1193	CLIP-seq
MIRT1923443	hsa-miR-1208	CLIP-seq
MIRT757689	hsa-miR-1246	CLIP-seq
MIRT1923444	hsa-miR-1251	CLIP-seq
MIRT757691	hsa-miR-1257	CLIP-seq
MIRT1923445	hsa-miR-125a-3p	CLIP-seq
MIRT1923446	hsa-miR-1262	CLIP-seq
MIRT1923447	hsa-miR-1269	CLIP-seq
MIRT1923448	hsa-miR-1269b	CLIP-seq
MIRT757694	hsa-miR-1272	CLIP-seq
MIRT1923449	hsa-miR-1273f	CLIP-seq
MIRT757643	hsa-miR-1283	CLIP-seq
MIRT757696	hsa-miR-1284	CLIP-seq
MIRT1923450	hsa-miR-1287	CLIP-seq
MIRT1923451	hsa-miR-1288	CLIP-seq
MIRT1923452	hsa-miR-1291	CLIP-seq
MIRT1923453	hsa-miR-1297	CLIP-seq
MIRT1923454	hsa-miR-1301	CLIP-seq
MIRT757698	hsa-miR-1322	CLIP-seq
MIRT1923455	hsa-miR-141	CLIP-seq
MIRT757701	hsa-miR-143	CLIP-seq
MIRT757702	hsa-miR-146b-3p	CLIP-seq
MIRT1923456	hsa-miR-153	CLIP-seq
MIRT757706	hsa-miR-155	CLIP-seq
MIRT757707	hsa-miR-183	CLIP-seq
MIRT1923457	hsa-miR-184	CLIP-seq
MIRT757710	hsa-miR-1913	CLIP-seq
MIRT1923458	hsa-miR-1915	CLIP-seq
MIRT1923459	hsa-miR-200a	CLIP-seq
MIRT757645	hsa-miR-200b	CLIP-seq
MIRT757646	hsa-miR-200c	CLIP-seq
MIRT757711	hsa-miR-21	CLIP-seq
MIRT757714	hsa-miR-219-2-3p	CLIP-seq
MIRT1923460	hsa-miR-22	CLIP-seq
MIRT1923461	hsa-miR-26a	CLIP-seq
MIRT1923462	hsa-miR-26b	CLIP-seq
MIRT1923463	hsa-miR-2861	CLIP-seq
MIRT1923464	hsa-miR-3117-5p	CLIP-seq
MIRT1923465	hsa-miR-3119	CLIP-seq
MIRT757720	hsa-miR-3134	CLIP-seq
MIRT1923466	hsa-miR-3135b	CLIP-seq
MIRT1923467	hsa-miR-3136-5p	CLIP-seq
MIRT757722	hsa-miR-3140-3p	CLIP-seq
MIRT757727	hsa-miR-3173-5p	CLIP-seq
MIRT757729	hsa-miR-3180-5p	CLIP-seq
MIRT1923468	hsa-miR-3189-3p	CLIP-seq
MIRT757649	hsa-miR-3192	CLIP-seq
MIRT757732	hsa-miR-323-3p	CLIP-seq
MIRT757733	hsa-miR-324-3p	CLIP-seq
MIRT1923469	hsa-miR-328	CLIP-seq
MIRT757734	hsa-miR-331-5p	CLIP-seq
MIRT1923470	hsa-miR-3620	CLIP-seq
MIRT1923471	hsa-miR-365	CLIP-seq
MIRT1923472	hsa-miR-3652	CLIP-seq
MIRT757653	hsa-miR-3653	CLIP-seq
MIRT757654	hsa-miR-3658	CLIP-seq
MIRT1923473	hsa-miR-3665	CLIP-seq
MIRT757742	hsa-miR-3668	CLIP-seq
MIRT757743	hsa-miR-3690	CLIP-seq
MIRT757744	hsa-miR-369-3p	CLIP-seq
MIRT1923474	hsa-miR-380	CLIP-seq
MIRT757749	hsa-miR-3909	CLIP-seq
MIRT1923475	hsa-miR-3918	CLIP-seq
MIRT757751	hsa-miR-3935	CLIP-seq
MIRT1923476	hsa-miR-3944-5p	CLIP-seq
MIRT1923477	hsa-miR-3978	CLIP-seq
MIRT757752	hsa-miR-409-5p	CLIP-seq
MIRT757657	hsa-miR-421	CLIP-seq
MIRT1923478	hsa-miR-425	CLIP-seq
MIRT757753	hsa-miR-4261	CLIP-seq
MIRT1923479	hsa-miR-4289	CLIP-seq
MIRT757662	hsa-miR-429	CLIP-seq
MIRT757663	hsa-miR-4307	CLIP-seq
MIRT757755	hsa-miR-4308	CLIP-seq
MIRT757756	hsa-miR-4320	CLIP-seq
MIRT1923480	hsa-miR-4420	CLIP-seq
MIRT1923481	hsa-miR-4430	CLIP-seq
MIRT1923482	hsa-miR-4437	CLIP-seq
MIRT1923483	hsa-miR-4439	CLIP-seq
MIRT1923484	hsa-miR-4459	CLIP-seq
MIRT1923485	hsa-miR-4465	CLIP-seq
MIRT757759	hsa-miR-448	CLIP-seq
MIRT757761	hsa-miR-4494	CLIP-seq
MIRT1923486	hsa-miR-4496	CLIP-seq
MIRT1923487	hsa-miR-4504	CLIP-seq
MIRT757667	hsa-miR-4505	CLIP-seq
MIRT757763	hsa-miR-450b-5p	CLIP-seq
MIRT1923488	hsa-miR-4512	CLIP-seq
MIRT1923489	hsa-miR-4515	CLIP-seq
MIRT757765	hsa-miR-4520a-3p	CLIP-seq
MIRT757767	hsa-miR-4534	CLIP-seq
MIRT757768	hsa-miR-4633-5p	CLIP-seq
MIRT757769	hsa-miR-4638-3p	CLIP-seq
MIRT1923490	hsa-miR-4660	CLIP-seq
MIRT757669	hsa-miR-4663	CLIP-seq
MIRT1923491	hsa-miR-4676-5p	CLIP-seq
MIRT757771	hsa-miR-4678	CLIP-seq
MIRT1923492	hsa-miR-4680-5p	CLIP-seq
MIRT757670	hsa-miR-4682	CLIP-seq
MIRT1923493	hsa-miR-4685-5p	CLIP-seq
MIRT1923494	hsa-miR-4695-5p	CLIP-seq
MIRT1923495	hsa-miR-4701-3p	CLIP-seq
MIRT1923496	hsa-miR-4708-5p	CLIP-seq
MIRT757672	hsa-miR-4716-5p	CLIP-seq
MIRT1923497	hsa-miR-4719	CLIP-seq
MIRT1923498	hsa-miR-4725-5p	CLIP-seq
MIRT1923499	hsa-miR-4726-3p	CLIP-seq
MIRT757778	hsa-miR-4731-3p	CLIP-seq
MIRT1923500	hsa-miR-4740-5p	CLIP-seq
MIRT757781	hsa-miR-4757-5p	CLIP-seq
MIRT1923501	hsa-miR-4760-3p	CLIP-seq
MIRT757785	hsa-miR-4778-3p	CLIP-seq
MIRT1923502	hsa-miR-4780	CLIP-seq
MIRT757786	hsa-miR-4789-5p	CLIP-seq
MIRT757789	hsa-miR-4801	CLIP-seq
MIRT1923503	hsa-miR-4804-5p	CLIP-seq
MIRT1923504	hsa-miR-490-5p	CLIP-seq
MIRT1923505	hsa-miR-502-5p	CLIP-seq
MIRT1923506	hsa-miR-504	CLIP-seq
MIRT1923507	hsa-miR-5047	CLIP-seq
MIRT757792	hsa-miR-507	CLIP-seq
MIRT757797	hsa-miR-520a-5p	CLIP-seq
MIRT757798	hsa-miR-525-5p	CLIP-seq
MIRT757681	hsa-miR-526b	CLIP-seq
MIRT757799	hsa-miR-532-5p	CLIP-seq
MIRT1923508	hsa-miR-542-3p	CLIP-seq
MIRT757800	hsa-miR-548c-3p	CLIP-seq
MIRT757802	hsa-miR-556-5p	CLIP-seq
MIRT757803	hsa-miR-557	CLIP-seq
MIRT1923509	hsa-miR-575	CLIP-seq
MIRT757804	hsa-miR-579	CLIP-seq
MIRT757807	hsa-miR-584	CLIP-seq
MIRT757808	hsa-miR-590-5p	CLIP-seq
MIRT757809	hsa-miR-618	CLIP-seq
MIRT1923510	hsa-miR-623	CLIP-seq
MIRT1923511	hsa-miR-624	CLIP-seq
MIRT757683	hsa-miR-634	CLIP-seq
MIRT1923512	hsa-miR-647	CLIP-seq
MIRT1923513	hsa-miR-657	CLIP-seq
MIRT757812	hsa-miR-661	CLIP-seq
MIRT757813	hsa-miR-664	CLIP-seq
MIRT1923514	hsa-miR-665	CLIP-seq
MIRT1923515	hsa-miR-758	CLIP-seq
MIRT757816	hsa-miR-873	CLIP-seq
MIRT757817	hsa-miR-874	CLIP-seq
MIRT757818	hsa-miR-892b	CLIP-seq
MIRT1923516	hsa-miR-938	CLIP-seq
MIRT1923517	hsa-miR-943	CLIP-seq
MIRT757710	hsa-miR-1913	CLIP-seq
MIRT1923464	hsa-miR-3117-5p	CLIP-seq
MIRT757733	hsa-miR-324-3p	CLIP-seq
MIRT1923518	hsa-miR-3609	CLIP-seq
MIRT1923519	hsa-miR-378g	CLIP-seq
MIRT1923520	hsa-miR-4292	CLIP-seq
MIRT1923486	hsa-miR-4496	CLIP-seq
MIRT1923521	hsa-miR-548ah	CLIP-seq
MIRT2164916	hsa-miR-1183	CLIP-seq
MIRT1923443	hsa-miR-1208	CLIP-seq
MIRT2164917	hsa-miR-1229	CLIP-seq
MIRT757689	hsa-miR-1246	CLIP-seq
MIRT1923445	hsa-miR-125a-3p	CLIP-seq
MIRT2164918	hsa-miR-1268	CLIP-seq
MIRT2164919	hsa-miR-1268b	CLIP-seq
MIRT1923447	hsa-miR-1269	CLIP-seq
MIRT1923448	hsa-miR-1269b	CLIP-seq
MIRT757693	hsa-miR-1271	CLIP-seq
MIRT757694	hsa-miR-1272	CLIP-seq
MIRT757695	hsa-miR-1273e	CLIP-seq
MIRT2164920	hsa-miR-128	CLIP-seq
MIRT1923450	hsa-miR-1287	CLIP-seq
MIRT2164921	hsa-miR-129-3p	CLIP-seq
MIRT757698	hsa-miR-1322	CLIP-seq
MIRT2164922	hsa-miR-1343	CLIP-seq
MIRT757702	hsa-miR-146b-3p	CLIP-seq
MIRT2164923	hsa-miR-1470	CLIP-seq
MIRT1923456	hsa-miR-153	CLIP-seq
MIRT757707	hsa-miR-183	CLIP-seq
MIRT1923457	hsa-miR-184	CLIP-seq
MIRT2164924	hsa-miR-197	CLIP-seq
MIRT2164925	hsa-miR-198	CLIP-seq
MIRT757645	hsa-miR-200b	CLIP-seq
MIRT757646	hsa-miR-200c	CLIP-seq
MIRT2164926	hsa-miR-2053	CLIP-seq
MIRT757714	hsa-miR-219-2-3p	CLIP-seq
MIRT757716	hsa-miR-2355-5p	CLIP-seq
MIRT2164927	hsa-miR-2467-3p	CLIP-seq
MIRT2164928	hsa-miR-27a	CLIP-seq
MIRT2164929	hsa-miR-27b	CLIP-seq
MIRT2164930	hsa-miR-2909	CLIP-seq
MIRT1923464	hsa-miR-3117-5p	CLIP-seq
MIRT757720	hsa-miR-3134	CLIP-seq
MIRT1923466	hsa-miR-3135b	CLIP-seq
MIRT2164931	hsa-miR-3141	CLIP-seq
MIRT757723	hsa-miR-3147	CLIP-seq
MIRT2164932	hsa-miR-3151	CLIP-seq
MIRT2164933	hsa-miR-3160-5p	CLIP-seq
MIRT2164934	hsa-miR-3180	CLIP-seq
MIRT2164935	hsa-miR-3180-3p	CLIP-seq
MIRT757729	hsa-miR-3180-5p	CLIP-seq
MIRT757649	hsa-miR-3192	CLIP-seq
MIRT2164936	hsa-miR-3196	CLIP-seq
MIRT2164937	hsa-miR-3200-3p	CLIP-seq
MIRT757735	hsa-miR-339-5p	CLIP-seq
MIRT757652	hsa-miR-3611	CLIP-seq
MIRT2164938	hsa-miR-3612	CLIP-seq
MIRT2164939	hsa-miR-3614-5p	CLIP-seq
MIRT1923470	hsa-miR-3620	CLIP-seq
MIRT1923472	hsa-miR-3652	CLIP-seq
MIRT757653	hsa-miR-3653	CLIP-seq
MIRT757654	hsa-miR-3658	CLIP-seq
MIRT1923473	hsa-miR-3665	CLIP-seq
MIRT2164940	hsa-miR-3678-3p	CLIP-seq
MIRT2164941	hsa-miR-3686	CLIP-seq
MIRT2164942	hsa-miR-3689a-3p	CLIP-seq
MIRT2164943	hsa-miR-3689c	CLIP-seq
MIRT2164944	hsa-miR-3920	CLIP-seq
MIRT757657	hsa-miR-421	CLIP-seq
MIRT757753	hsa-miR-4261	CLIP-seq
MIRT2164945	hsa-miR-4278	CLIP-seq
MIRT1923479	hsa-miR-4289	CLIP-seq
MIRT757662	hsa-miR-429	CLIP-seq
MIRT757756	hsa-miR-4320	CLIP-seq
MIRT757757	hsa-miR-4327	CLIP-seq
MIRT1923480	hsa-miR-4420	CLIP-seq
MIRT2164946	hsa-miR-4425	CLIP-seq
MIRT1923481	hsa-miR-4430	CLIP-seq
MIRT2164947	hsa-miR-4436b-3p	CLIP-seq
MIRT2164948	hsa-miR-4450	CLIP-seq
MIRT2164949	hsa-miR-4457	CLIP-seq
MIRT1923484	hsa-miR-4459	CLIP-seq
MIRT757759	hsa-miR-448	CLIP-seq
MIRT2164950	hsa-miR-4481	CLIP-seq
MIRT757761	hsa-miR-4494	CLIP-seq
MIRT1923486	hsa-miR-4496	CLIP-seq
MIRT757667	hsa-miR-4505	CLIP-seq
MIRT757762	hsa-miR-450b-3p	CLIP-seq
MIRT2164951	hsa-miR-4525	CLIP-seq
MIRT757767	hsa-miR-4534	CLIP-seq
MIRT2164952	hsa-miR-4649-5p	CLIP-seq
MIRT2164953	hsa-miR-4652-3p	CLIP-seq
MIRT2164954	hsa-miR-4667-3p	CLIP-seq
MIRT2164955	hsa-miR-4667-5p	CLIP-seq
MIRT1923492	hsa-miR-4680-5p	CLIP-seq
MIRT1923493	hsa-miR-4685-5p	CLIP-seq
MIRT757772	hsa-miR-4691-5p	CLIP-seq
MIRT2164956	hsa-miR-4693-3p	CLIP-seq
MIRT2164957	hsa-miR-4700-5p	CLIP-seq
MIRT757671	hsa-miR-4709-5p	CLIP-seq
MIRT2164958	hsa-miR-4713-3p	CLIP-seq
MIRT2164959	hsa-miR-4716-3p	CLIP-seq
MIRT2164960	hsa-miR-4723-5p	CLIP-seq
MIRT1923499	hsa-miR-4726-3p	CLIP-seq
MIRT2164961	hsa-miR-4728-5p	CLIP-seq
MIRT757777	hsa-miR-4729	CLIP-seq
MIRT2164962	hsa-miR-4745-5p	CLIP-seq
MIRT1923501	hsa-miR-4760-3p	CLIP-seq
MIRT757783	hsa-miR-4761-5p	CLIP-seq
MIRT1923503	hsa-miR-4804-5p	CLIP-seq
MIRT2164963	hsa-miR-490-3p	CLIP-seq
MIRT1923504	hsa-miR-490-5p	CLIP-seq
MIRT2164964	hsa-miR-499-3p	CLIP-seq
MIRT2164965	hsa-miR-499a-3p	CLIP-seq
MIRT757680	hsa-miR-505	CLIP-seq
MIRT2164966	hsa-miR-513a-5p	CLIP-seq
MIRT2164967	hsa-miR-513b	CLIP-seq
MIRT757797	hsa-miR-520a-5p	CLIP-seq
MIRT757798	hsa-miR-525-5p	CLIP-seq
MIRT2164968	hsa-miR-549	CLIP-seq
MIRT2164969	hsa-miR-574-5p	CLIP-seq
MIRT757804	hsa-miR-579	CLIP-seq
MIRT757809	hsa-miR-618	CLIP-seq
MIRT2164970	hsa-miR-638	CLIP-seq
MIRT2164971	hsa-miR-642a	CLIP-seq
MIRT1923512	hsa-miR-647	CLIP-seq
MIRT2164972	hsa-miR-650	CLIP-seq
MIRT1923513	hsa-miR-657	CLIP-seq
MIRT757813	hsa-miR-664	CLIP-seq
MIRT2164973	hsa-miR-764	CLIP-seq
MIRT757814	hsa-miR-767-5p	CLIP-seq
MIRT757815	hsa-miR-769-3p	CLIP-seq
MIRT757819	hsa-miR-939	CLIP-seq
MIRT757820	hsa-miR-96	CLIP-seq
MIRT2442887	hsa-miR-361-3p	CLIP-seq
MIRT2442887	hsa-miR-361-3p	CLIP-seq
MIRT757642	hsa-miR-1264	CLIP-seq
MIRT757652	hsa-miR-3611	CLIP-seq
MIRT757657	hsa-miR-421	CLIP-seq
MIRT757671	hsa-miR-4709-5p	CLIP-seq
MIRT757673	hsa-miR-4720-3p	CLIP-seq
MIRT757680	hsa-miR-505	CLIP-seq
MIRT757802	hsa-miR-556-5p	CLIP-seq
MIRT757807	hsa-miR-584	CLIP-seq

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0007620	Process	Copulation	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008483	Function	Transaminase activity	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009448	Process	Gamma-aminobutyric acid metabolic process	IDA	15528998
GO:0009448	Process	Gamma-aminobutyric acid metabolic process	IEA
GO:0009449	Process	Gamma-aminobutyric acid biosynthetic process	IEA
GO:0009450	Process	Gamma-aminobutyric acid catabolic process	IBA
GO:0010039	Process	Response to iron ion	IEA
GO:0014053	Process	Negative regulation of gamma-aminobutyric acid secretion	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IBA
GO:0030170	Function	Pyridoxal phosphate binding	IDA	15650327
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0031652	Process	Positive regulation of heat generation	IEA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0032144	Component	4-aminobutyrate transaminase complex	IDA	15528998
GO:0032145	Function	Succinate-semialdehyde dehydrogenase binding	ISS
GO:0033602	Process	Negative regulation of dopamine secretion	IEA
GO:0034386	Function	4-aminobutyrate:2-oxoglutarate transaminase activity	IDA	15528998
GO:0034386	Function	4-aminobutyrate:2-oxoglutarate transaminase activity	IDA	10407778
GO:0034386	Function	4-aminobutyrate:2-oxoglutarate transaminase activity	IEA
GO:0035094	Process	Response to nicotine	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0042802	Function	Identical protein binding	IPI	15528998
GO:0045471	Process	Response to ethanol	IEA
GO:0045776	Process	Negative regulation of blood pressure	IEA
GO:0045964	Process	Positive regulation of dopamine metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047298	Function	(S)-3-amino-2-methylpropionate transaminase activity	IEA
GO:0050877	Process	Nervous system process	IEA
GO:0050877	Process	Nervous system process	ISS
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0070474	Process	Positive regulation of uterine smooth muscle contraction	IEA
GO:0097151	Process	Positive regulation of inhibitory postsynaptic potential	IEA
GO:1902722	Process	Positive regulation of prolactin secretion	IEA
GO:1904450	Process	Positive regulation of aspartate secretion	IEA

MIM	HGNC	e!Ensembl
137150	23	ENSG00000183044

P80404

Protein name

4-aminobutyrate aminotransferase, mitochondrial (EC 2.6.1.19) ((S)-3-amino-2-methylpropionate transaminase) (EC 2.6.1.22) (GABA aminotransferase) (GABA-AT) (Gamma-amino-N-butyrate transaminase) (GABA transaminase) (GABA-T) (L-AIBAT)

Protein function

Catalyzes the conversion of gamma-aminobutyrate and L-beta-aminoisobutyrate to succinate semialdehyde and methylmalonate semialdehyde, respectively (PubMed:10407778, PubMed:15528998). Can also convert delta-aminovalerate and beta-alanine (By sim

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00202	Aminotran_3	65 → 496	Aminotransferase class-III	Domain

Tissue specificity

TISSUE SPECIFICITY: Liver > pancreas > brain > kidney > heart > placenta. {ECO:0000269|PubMed:7851425}.

Sequence

MASMLLAQRLACSFQHSYRLLVPGSRHISQAAAKVDVEFDYDGPLMKTEVPGPRSQELMK
QLNIIQNAEAVHFFCNYEESRGNYLVDVDGNRMLDLYSQISSVPIGYSHPALLKLIQQPQ
NASMFVNRPALGILPPENFVEKLRQSLLSVAPKGMSQLITMACGSCSNENALKTIFMWYR
SKERGQRGFSQEELETCMINQAPGCPDYSILSFMGAFHGRTMGCLATTHSKAIHKIDIPS
FDWPIAPFPRLKYPLEEFVKENQQEEARCLEEVEDLIVKYRKKKKTVAGIIVEPIQSEGG
DNHASDDFFRKLRDIARKHGCAFLVDEVQTGGGCTGKFWAHEHWGLDDPADVMTFSKKMM
TGGFFHKEEFRPNAPYRIFNTWLGDPSKNLLLAEVINIIKREDLLNNAAHAGKALLTGLL
DLQARYPQFISRVRGRGTFCSFDTPDDSIRNKLILIARNKGVVLGGCGDKSIRFRPTLVF
RDHHAHLFLNIFSDILADFK

Sequence length

500

Interactions

View interactions

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

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Gamma-aminobutyric acid transaminase deficiency	Likely pathogenic; Pathogenic	rs1596472500, rs939876800, rs2142947295, rs724159992, rs724159990, rs724159991, rs748719662, rs2549115450, rs2549024989, rs1383146093, rs2549024674, rs2549102675, rs775360286, rs1428777126, rs1355739310 View all (17 more)	RCV001379089 RCV001969528 RCV002009491 RCV000149900 RCV000149898 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (27)

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.
ABAT-related disorder	Likely benign; Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMERS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRONCHOPULMONARY DYSPLASIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DYSPLASIA OF THE HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HUNTINGTON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOMOTOR DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (58)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	33187258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	15864560		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30240781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29500101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	15830322		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	15830322		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	15830322	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Diseases	Brain disease	Pubtator	24395782	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24395782, 33962648, 34172056	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37918014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33865459, 37918014	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32093682	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	10407778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	10407778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31534049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29631977	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Psychomotor Disorders	Psychomotor Disorders	CTD_human_DG	10407778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31428911		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	10407778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28937628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gamma aminobutyric acid transaminase deficiency	Gamma Aminobutyric Acid Transaminase Deficiency	ORPHANET_DG	10407778, 9746906		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gamma aminobutyric acid transaminase deficiency	Gamma Aminobutyric Acid Transaminase Deficiency	GENOMICS_ENGLAND_DG	10407778, 25738457, 27604308, 27903293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gamma aminobutyric acid transaminase deficiency	Gamma Aminobutyric Acid Transaminase Deficiency	CTD_human_DG	10407778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gamma aminobutyric acid transaminase deficiency	Gamma Aminobutyric Acid Transaminase Deficiency	UNIPROT_DG	10407778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gamma aminobutyric acid transaminase deficiency	Gamma Aminobutyric Acid Transaminase Deficiency	CLINVAR_DG	20052547, 25738457, 27903293, 31133775		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gamma-aminobutyric acid transaminase deficiency	Gamma Aminobutyric Acid Transaminase Deficiency	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	21552517		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	CTD_human_DG	21552517		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Generalized seizures	Seizure	CTD_human_DG	10407778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28245795	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	27903293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30535457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	30535457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	28427564		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	37122729	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	10407778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lennox-Gastaut syndrome	Lennox-Gastaut Syndrome	BEFREE	28846756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30535457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	GWASCAT_DG	30277654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30662552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	22225676		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	30535457, 31173260		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	30535457	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	31173260	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CTD_human_DG	10407778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28245795, 30662552		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31706267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	31029018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychomotor Disorders	CTD_human_DG	10407778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Single Seizure	Seizure	CTD_human_DG	10407778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	10407778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia	Visceral neuropathy	Pubtator	25738457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	10407778		★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	28427564		★★★★★ ★☆☆☆☆ Found in Text Mining only

ABAT (4-aminobutyrate aminotransferase)