SNAP25 (synaptosome associated protein 25)

Gene

• Entrez ID: 6616
• Gene name: Synaptosome associated protein 25
• Gene symbol: SNAP25
• Synonyms (NCBI Gene): CMS18, DEE117, RIC-4, RIC4, SEC9, SNAP, SNAP-25, SUP, bA416N4.2, dJ1068F16.2
• Chromosome: 20
• Chromosome location: 20p12.2
• Summary: Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE comple

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs797044873	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555794286	T>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1600807788	G>C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438002	hsa-miR-641	Luciferase reporter assay	24391914
MIRT438002	hsa-miR-641	Luciferase reporter assay	24391914
MIRT438002	hsa-miR-641	Luciferase reporter assay	24391914
MIRT438002	hsa-miR-641	Luciferase reporter assay	24391914
MIRT438002	hsa-miR-641	Luciferase reporter assay	24391914
MIRT438002	hsa-miR-641	Luciferase reporter assay	24391914
MIRT438002	hsa-miR-641	Luciferase reporter assay	24391914
MIRT438002	hsa-miR-641	Luciferase reporter assay	24391914
MIRT724621	hsa-miR-6819-3p	HITS-CLIP	19536157
MIRT724620	hsa-miR-6877-3p	HITS-CLIP	19536157
MIRT724619	hsa-miR-194-3p	HITS-CLIP	19536157
MIRT724618	hsa-miR-1825	HITS-CLIP	19536157
MIRT724617	hsa-miR-199a-5p	HITS-CLIP	19536157
MIRT724616	hsa-miR-199b-5p	HITS-CLIP	19536157
MIRT724615	hsa-miR-766-3p	HITS-CLIP	19536157
MIRT724614	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT724613	hsa-miR-6728-3p	HITS-CLIP	19536157
MIRT724612	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT724611	hsa-miR-3157-5p	HITS-CLIP	19536157
MIRT724610	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT724609	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT497005	hsa-miR-208a-5p	PAR-CLIP	22291592
MIRT497004	hsa-miR-208b-5p	PAR-CLIP	22291592
MIRT497003	hsa-miR-29b-1-5p	PAR-CLIP	22291592
MIRT497002	hsa-miR-4480	PAR-CLIP	22291592
MIRT497001	hsa-miR-19a-5p	PAR-CLIP	22291592
MIRT497000	hsa-miR-19b-1-5p	PAR-CLIP	22291592
MIRT496999	hsa-miR-19b-2-5p	PAR-CLIP	22291592
MIRT496998	hsa-miR-192-3p	PAR-CLIP	22291592
MIRT496997	hsa-miR-4776-3p	PAR-CLIP	22291592
MIRT439576	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT439576	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT724621	hsa-miR-6819-3p	HITS-CLIP	19536157
MIRT724620	hsa-miR-6877-3p	HITS-CLIP	19536157
MIRT724619	hsa-miR-194-3p	HITS-CLIP	19536157
MIRT724618	hsa-miR-1825	HITS-CLIP	19536157
MIRT724617	hsa-miR-199a-5p	HITS-CLIP	19536157
MIRT724616	hsa-miR-199b-5p	HITS-CLIP	19536157
MIRT724615	hsa-miR-766-3p	HITS-CLIP	19536157
MIRT724614	hsa-miR-3925-3p	HITS-CLIP	19536157
MIRT724613	hsa-miR-6728-3p	HITS-CLIP	19536157
MIRT724612	hsa-miR-103a-2-5p	HITS-CLIP	19536157
MIRT724611	hsa-miR-3157-5p	HITS-CLIP	19536157
MIRT724610	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT724609	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT497005	hsa-miR-208a-5p	PAR-CLIP	22291592
MIRT497004	hsa-miR-208b-5p	PAR-CLIP	22291592
MIRT497003	hsa-miR-29b-1-5p	PAR-CLIP	22291592
MIRT497002	hsa-miR-4480	PAR-CLIP	22291592
MIRT497001	hsa-miR-19a-5p	PAR-CLIP	22291592
MIRT497000	hsa-miR-19b-1-5p	PAR-CLIP	22291592
MIRT496999	hsa-miR-19b-2-5p	PAR-CLIP	22291592
MIRT496998	hsa-miR-192-3p	PAR-CLIP	22291592
MIRT496997	hsa-miR-4776-3p	PAR-CLIP	22291592
MIRT1374946	hsa-miR-1252	CLIP-seq
MIRT1374947	hsa-miR-186	CLIP-seq
MIRT1374948	hsa-miR-28-3p	CLIP-seq
MIRT1374949	hsa-miR-28-5p	CLIP-seq
MIRT1374950	hsa-miR-3139	CLIP-seq
MIRT1374951	hsa-miR-3166	CLIP-seq
MIRT1374952	hsa-miR-369-3p	CLIP-seq
MIRT1374953	hsa-miR-3944-5p	CLIP-seq
MIRT1374954	hsa-miR-421	CLIP-seq
MIRT1374955	hsa-miR-4422	CLIP-seq
MIRT1374956	hsa-miR-4633-3p	CLIP-seq
MIRT1374957	hsa-miR-4709-5p	CLIP-seq
MIRT1374958	hsa-miR-4771	CLIP-seq
MIRT1374959	hsa-miR-488	CLIP-seq
MIRT1374960	hsa-miR-539	CLIP-seq
MIRT1374961	hsa-miR-577	CLIP-seq
MIRT1374962	hsa-miR-708	CLIP-seq
MIRT2334646	hsa-miR-425	CLIP-seq
MIRT2334647	hsa-miR-4436a	CLIP-seq
MIRT2334648	hsa-miR-4700-3p	CLIP-seq
MIRT2334649	hsa-miR-642b	CLIP-seq
MIRT2460093	hsa-miR-548u	CLIP-seq
MIRT2460093	hsa-miR-548u	CLIP-seq
MIRT2628757	hsa-miR-1	CLIP-seq
MIRT2628758	hsa-miR-105	CLIP-seq
MIRT2628759	hsa-miR-1179	CLIP-seq
MIRT1374946	hsa-miR-1252	CLIP-seq
MIRT2628760	hsa-miR-1267	CLIP-seq
MIRT2628761	hsa-miR-1269	CLIP-seq
MIRT2628762	hsa-miR-1269b	CLIP-seq
MIRT2628763	hsa-miR-128	CLIP-seq
MIRT2628764	hsa-miR-1288	CLIP-seq
MIRT2628765	hsa-miR-130a	CLIP-seq
MIRT2628766	hsa-miR-130b	CLIP-seq
MIRT2628767	hsa-miR-138	CLIP-seq
MIRT2628768	hsa-miR-140-3p	CLIP-seq
MIRT2628769	hsa-miR-147	CLIP-seq
MIRT2628770	hsa-miR-151-5p	CLIP-seq
MIRT2628771	hsa-miR-151b	CLIP-seq
MIRT2628772	hsa-miR-181a	CLIP-seq
MIRT2628773	hsa-miR-181b	CLIP-seq
MIRT2628774	hsa-miR-181c	CLIP-seq
MIRT2628775	hsa-miR-181d	CLIP-seq
MIRT2628776	hsa-miR-185	CLIP-seq
MIRT1374947	hsa-miR-186	CLIP-seq
MIRT2628777	hsa-miR-200b	CLIP-seq
MIRT2628778	hsa-miR-200c	CLIP-seq
MIRT2628779	hsa-miR-2052	CLIP-seq
MIRT2628780	hsa-miR-206	CLIP-seq
MIRT2628781	hsa-miR-2113	CLIP-seq
MIRT2628782	hsa-miR-217	CLIP-seq
MIRT2628783	hsa-miR-27a	CLIP-seq
MIRT2628784	hsa-miR-27b	CLIP-seq
MIRT1374948	hsa-miR-28-3p	CLIP-seq
MIRT1374949	hsa-miR-28-5p	CLIP-seq
MIRT2628785	hsa-miR-301a	CLIP-seq
MIRT2628786	hsa-miR-301b	CLIP-seq
MIRT2628787	hsa-miR-3117-5p	CLIP-seq
MIRT1374950	hsa-miR-3139	CLIP-seq
MIRT2628788	hsa-miR-3146	CLIP-seq
MIRT2628789	hsa-miR-3150b-3p	CLIP-seq
MIRT2628790	hsa-miR-3152-3p	CLIP-seq
MIRT1374951	hsa-miR-3166	CLIP-seq
MIRT2628791	hsa-miR-3168	CLIP-seq
MIRT2628792	hsa-miR-3190	CLIP-seq
MIRT2628793	hsa-miR-34a	CLIP-seq
MIRT2628794	hsa-miR-34c-5p	CLIP-seq
MIRT2628795	hsa-miR-3591-5p	CLIP-seq
MIRT2628796	hsa-miR-3646	CLIP-seq
MIRT2628797	hsa-miR-3662	CLIP-seq
MIRT2628798	hsa-miR-3664-5p	CLIP-seq
MIRT2628799	hsa-miR-3666	CLIP-seq
MIRT2628800	hsa-miR-3673	CLIP-seq
MIRT2628801	hsa-miR-3688-3p	CLIP-seq
MIRT2628802	hsa-miR-3691-5p	CLIP-seq
MIRT2628803	hsa-miR-3692	CLIP-seq
MIRT1374952	hsa-miR-369-3p	CLIP-seq
MIRT2628804	hsa-miR-380	CLIP-seq
MIRT2628805	hsa-miR-3924	CLIP-seq
MIRT1374953	hsa-miR-3944-5p	CLIP-seq
MIRT2628806	hsa-miR-3978	CLIP-seq
MIRT1374954	hsa-miR-421	CLIP-seq
MIRT2628807	hsa-miR-4262	CLIP-seq
MIRT2628808	hsa-miR-4273	CLIP-seq
MIRT2628809	hsa-miR-429	CLIP-seq
MIRT2628810	hsa-miR-4291	CLIP-seq
MIRT2628811	hsa-miR-4295	CLIP-seq
MIRT2628812	hsa-miR-4306	CLIP-seq
MIRT2628813	hsa-miR-4310	CLIP-seq
MIRT2628814	hsa-miR-4318	CLIP-seq
MIRT2628815	hsa-miR-4325	CLIP-seq
MIRT2628816	hsa-miR-4328	CLIP-seq
MIRT2628817	hsa-miR-4418	CLIP-seq
MIRT1374955	hsa-miR-4422	CLIP-seq
MIRT2334647	hsa-miR-4436a	CLIP-seq
MIRT2628818	hsa-miR-4443	CLIP-seq
MIRT2628819	hsa-miR-4459	CLIP-seq
MIRT2628820	hsa-miR-4473	CLIP-seq
MIRT2628821	hsa-miR-4495	CLIP-seq
MIRT2628822	hsa-miR-449a	CLIP-seq
MIRT2628823	hsa-miR-449b	CLIP-seq
MIRT2628824	hsa-miR-4515	CLIP-seq
MIRT2628825	hsa-miR-454	CLIP-seq
MIRT1374956	hsa-miR-4633-3p	CLIP-seq
MIRT2628826	hsa-miR-4644	CLIP-seq
MIRT2628827	hsa-miR-4645-3p	CLIP-seq
MIRT2628828	hsa-miR-4651	CLIP-seq
MIRT2628829	hsa-miR-4652-3p	CLIP-seq
MIRT2628830	hsa-miR-4666-5p	CLIP-seq
MIRT2628831	hsa-miR-4671-3p	CLIP-seq
MIRT2628832	hsa-miR-4677-5p	CLIP-seq
MIRT2628833	hsa-miR-4693-5p	CLIP-seq
MIRT2334648	hsa-miR-4700-3p	CLIP-seq
MIRT1374957	hsa-miR-4709-5p	CLIP-seq
MIRT2628834	hsa-miR-4715-3p	CLIP-seq
MIRT2628835	hsa-miR-4740-5p	CLIP-seq
MIRT2628836	hsa-miR-4752	CLIP-seq
MIRT1374958	hsa-miR-4771	CLIP-seq
MIRT2628837	hsa-miR-4774-5p	CLIP-seq
MIRT2628838	hsa-miR-4784	CLIP-seq
MIRT2628839	hsa-miR-4793-3p	CLIP-seq
MIRT1374959	hsa-miR-488	CLIP-seq
MIRT2628840	hsa-miR-490-5p	CLIP-seq
MIRT2628841	hsa-miR-495	CLIP-seq
MIRT2628842	hsa-miR-499-3p	CLIP-seq
MIRT2628843	hsa-miR-499a-3p	CLIP-seq
MIRT2628844	hsa-miR-509-3-5p	CLIP-seq
MIRT2628845	hsa-miR-509-5p	CLIP-seq
MIRT2628846	hsa-miR-513b	CLIP-seq
MIRT2628847	hsa-miR-522	CLIP-seq
MIRT1374960	hsa-miR-539	CLIP-seq
MIRT2628848	hsa-miR-541	CLIP-seq
MIRT2628849	hsa-miR-543	CLIP-seq
MIRT2628850	hsa-miR-545	CLIP-seq
MIRT2628851	hsa-miR-548c-3p	CLIP-seq
MIRT2460093	hsa-miR-548u	CLIP-seq
MIRT2628852	hsa-miR-561	CLIP-seq
MIRT2628853	hsa-miR-562	CLIP-seq
MIRT1374961	hsa-miR-577	CLIP-seq
MIRT2628854	hsa-miR-599	CLIP-seq
MIRT2628855	hsa-miR-602	CLIP-seq
MIRT2628856	hsa-miR-608	CLIP-seq
MIRT2628857	hsa-miR-613	CLIP-seq
MIRT2628858	hsa-miR-618	CLIP-seq
MIRT2334649	hsa-miR-642b	CLIP-seq
MIRT2628859	hsa-miR-654-5p	CLIP-seq
MIRT1374962	hsa-miR-708	CLIP-seq
MIRT2628860	hsa-miR-765	CLIP-seq
MIRT2628861	hsa-miR-888	CLIP-seq
MIRT2628862	hsa-miR-889	CLIP-seq
MIRT2628863	hsa-miR-892a	CLIP-seq
MIRT2628757	hsa-miR-1	CLIP-seq
MIRT2628758	hsa-miR-105	CLIP-seq
MIRT2628759	hsa-miR-1179	CLIP-seq
MIRT1374946	hsa-miR-1252	CLIP-seq
MIRT2628760	hsa-miR-1267	CLIP-seq
MIRT2628761	hsa-miR-1269	CLIP-seq
MIRT2628762	hsa-miR-1269b	CLIP-seq
MIRT2628763	hsa-miR-128	CLIP-seq
MIRT2628764	hsa-miR-1288	CLIP-seq
MIRT2628765	hsa-miR-130a	CLIP-seq
MIRT2628766	hsa-miR-130b	CLIP-seq
MIRT2628767	hsa-miR-138	CLIP-seq
MIRT2628769	hsa-miR-147	CLIP-seq
MIRT2628770	hsa-miR-151-5p	CLIP-seq
MIRT2628771	hsa-miR-151b	CLIP-seq
MIRT2628772	hsa-miR-181a	CLIP-seq
MIRT2628773	hsa-miR-181b	CLIP-seq
MIRT2628774	hsa-miR-181c	CLIP-seq
MIRT2628775	hsa-miR-181d	CLIP-seq
MIRT2628776	hsa-miR-185	CLIP-seq
MIRT1374947	hsa-miR-186	CLIP-seq
MIRT2628777	hsa-miR-200b	CLIP-seq
MIRT2628778	hsa-miR-200c	CLIP-seq
MIRT2628779	hsa-miR-2052	CLIP-seq
MIRT2628780	hsa-miR-206	CLIP-seq
MIRT2628781	hsa-miR-2113	CLIP-seq
MIRT2628782	hsa-miR-217	CLIP-seq
MIRT2628783	hsa-miR-27a	CLIP-seq
MIRT2628784	hsa-miR-27b	CLIP-seq
MIRT1374948	hsa-miR-28-3p	CLIP-seq
MIRT1374949	hsa-miR-28-5p	CLIP-seq
MIRT2628785	hsa-miR-301a	CLIP-seq
MIRT2628786	hsa-miR-301b	CLIP-seq
MIRT2628787	hsa-miR-3117-5p	CLIP-seq
MIRT1374950	hsa-miR-3139	CLIP-seq
MIRT2628788	hsa-miR-3146	CLIP-seq
MIRT2628789	hsa-miR-3150b-3p	CLIP-seq
MIRT2628790	hsa-miR-3152-3p	CLIP-seq
MIRT1374951	hsa-miR-3166	CLIP-seq
MIRT2628791	hsa-miR-3168	CLIP-seq
MIRT2628792	hsa-miR-3190	CLIP-seq
MIRT2628793	hsa-miR-34a	CLIP-seq
MIRT2628794	hsa-miR-34c-5p	CLIP-seq
MIRT2628795	hsa-miR-3591-5p	CLIP-seq
MIRT2628798	hsa-miR-3664-5p	CLIP-seq
MIRT2628799	hsa-miR-3666	CLIP-seq
MIRT2628800	hsa-miR-3673	CLIP-seq
MIRT2628801	hsa-miR-3688-3p	CLIP-seq
MIRT2628802	hsa-miR-3691-5p	CLIP-seq
MIRT2628803	hsa-miR-3692	CLIP-seq
MIRT1374952	hsa-miR-369-3p	CLIP-seq
MIRT2628804	hsa-miR-380	CLIP-seq
MIRT2628805	hsa-miR-3924	CLIP-seq
MIRT1374953	hsa-miR-3944-5p	CLIP-seq
MIRT2628806	hsa-miR-3978	CLIP-seq
MIRT1374954	hsa-miR-421	CLIP-seq
MIRT2628807	hsa-miR-4262	CLIP-seq
MIRT2628808	hsa-miR-4273	CLIP-seq
MIRT2628809	hsa-miR-429	CLIP-seq
MIRT2628810	hsa-miR-4291	CLIP-seq
MIRT2628811	hsa-miR-4295	CLIP-seq
MIRT2628812	hsa-miR-4306	CLIP-seq
MIRT2628813	hsa-miR-4310	CLIP-seq
MIRT2628814	hsa-miR-4318	CLIP-seq
MIRT2628815	hsa-miR-4325	CLIP-seq
MIRT2628816	hsa-miR-4328	CLIP-seq
MIRT2628817	hsa-miR-4418	CLIP-seq
MIRT1374955	hsa-miR-4422	CLIP-seq
MIRT2334647	hsa-miR-4436a	CLIP-seq
MIRT2628818	hsa-miR-4443	CLIP-seq
MIRT2628820	hsa-miR-4473	CLIP-seq
MIRT2628821	hsa-miR-4495	CLIP-seq
MIRT2628822	hsa-miR-449a	CLIP-seq
MIRT2628823	hsa-miR-449b	CLIP-seq
MIRT2628824	hsa-miR-4515	CLIP-seq
MIRT2628825	hsa-miR-454	CLIP-seq
MIRT1374956	hsa-miR-4633-3p	CLIP-seq
MIRT2628826	hsa-miR-4644	CLIP-seq
MIRT2628827	hsa-miR-4645-3p	CLIP-seq
MIRT2628828	hsa-miR-4651	CLIP-seq
MIRT2628829	hsa-miR-4652-3p	CLIP-seq
MIRT2628831	hsa-miR-4671-3p	CLIP-seq
MIRT2628832	hsa-miR-4677-5p	CLIP-seq
MIRT2691596	hsa-miR-4691-3p	CLIP-seq
MIRT2628833	hsa-miR-4693-5p	CLIP-seq
MIRT2334648	hsa-miR-4700-3p	CLIP-seq
MIRT1374957	hsa-miR-4709-5p	CLIP-seq
MIRT2628834	hsa-miR-4715-3p	CLIP-seq
MIRT2628835	hsa-miR-4740-5p	CLIP-seq
MIRT2628836	hsa-miR-4752	CLIP-seq
MIRT1374958	hsa-miR-4771	CLIP-seq
MIRT2628837	hsa-miR-4774-5p	CLIP-seq
MIRT2628838	hsa-miR-4784	CLIP-seq
MIRT2628839	hsa-miR-4793-3p	CLIP-seq
MIRT1374959	hsa-miR-488	CLIP-seq
MIRT2628840	hsa-miR-490-5p	CLIP-seq
MIRT2628842	hsa-miR-499-3p	CLIP-seq
MIRT2628843	hsa-miR-499a-3p	CLIP-seq
MIRT2628844	hsa-miR-509-3-5p	CLIP-seq
MIRT2628845	hsa-miR-509-5p	CLIP-seq
MIRT2628846	hsa-miR-513b	CLIP-seq
MIRT1374960	hsa-miR-539	CLIP-seq
MIRT2628848	hsa-miR-541	CLIP-seq
MIRT2628849	hsa-miR-543	CLIP-seq
MIRT2628850	hsa-miR-545	CLIP-seq
MIRT2628851	hsa-miR-548c-3p	CLIP-seq
MIRT2460093	hsa-miR-548u	CLIP-seq
MIRT2628852	hsa-miR-561	CLIP-seq
MIRT2628853	hsa-miR-562	CLIP-seq
MIRT1374961	hsa-miR-577	CLIP-seq
MIRT2628854	hsa-miR-599	CLIP-seq
MIRT2628855	hsa-miR-602	CLIP-seq
MIRT2628856	hsa-miR-608	CLIP-seq
MIRT2628857	hsa-miR-613	CLIP-seq
MIRT2628858	hsa-miR-618	CLIP-seq
MIRT2334649	hsa-miR-642b	CLIP-seq
MIRT2628859	hsa-miR-654-5p	CLIP-seq
MIRT1374962	hsa-miR-708	CLIP-seq
MIRT2628860	hsa-miR-765	CLIP-seq
MIRT2628861	hsa-miR-888	CLIP-seq
MIRT2628863	hsa-miR-892a	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	18194215

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IEA
GO:0001504	Process	Neurotransmitter uptake	NAS	8760387
GO:0001917	Component	Photoreceptor inner segment	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005484	Function	SNAP receptor activity	IBA
GO:0005484	Function	SNAP receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	8692999, 11438518, 15603740, 16169070, 16189514, 19546860, 20798282, 21785412, 21785414, 26030875, 26635000, 30610939, 32296183, 32814053, 36217029
GO:0005737	Component	Cytoplasm	IDA	24327345
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IDA	24327345
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IEA
GO:0006887	Process	Exocytosis	IBA
GO:0007268	Process	Chemical synaptic transmission	NAS	8760387
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	ISS
GO:0008289	Function	Lipid binding	EXP	30916996
GO:0008306	Process	Associative learning	IEA
GO:0010975	Process	Regulation of neuron projection development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016079	Process	Synaptic vesicle exocytosis	IEA
GO:0016079	Process	Synaptic vesicle exocytosis	TAS	15217342
GO:0016081	Process	Synaptic vesicle docking	NAS	8760387
GO:0016082	Process	Synaptic vesicle priming	IBA
GO:0017075	Function	Syntaxin-1 binding	IBA
GO:0017075	Function	Syntaxin-1 binding	IEA
GO:0017075	Function	Syntaxin-1 binding	IPI	12730201
GO:0030424	Component	Axon	IEA
GO:0030426	Component	Growth cone	ISS
GO:0031083	Component	BLOC-1 complex	IDA	19546860
GO:0031201	Component	SNARE complex	IDA	12130530, 12730201, 19546860
GO:0031201	Component	SNARE complex	IEA
GO:0031201	Component	SNARE complex	ISS
GO:0031201	Component	SNARE complex	TAS	15217342
GO:0031629	Process	Synaptic vesicle fusion to presynaptic active zone membrane	IBA
GO:0031982	Component	Vesicle	IDA	15459722
GO:0035579	Component	Specific granule membrane	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0036477	Component	Somatodendritic compartment	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	TAS	15217342
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0045202	Component	Synapse	IEA
GO:0048306	Function	Calcium-dependent protein binding	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050796	Process	Regulation of insulin secretion	TAS	15537656
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0070032	Component	Synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex	IBA
GO:0070032	Component	Synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex	IEA
GO:0070201	Process	Regulation of establishment of protein localization	IEA
GO:0070201	Process	Regulation of establishment of protein localization	IEA
GO:0070821	Component	Tertiary granule membrane	IEA
GO:0070821	Component	Tertiary granule membrane	TAS
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0097470	Component	Ribbon synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099525	Process	Presynaptic dense core vesicle exocytosis	IEA

Other IDs

• MIM: 600322
• HGNC: 11132
• e!Ensembl: ENSG00000132639

Protein

• UniProt ID: P60880
• Protein name: Synaptosomal-associated protein 25 (SNAP-25) (Super protein) (SUP) (Synaptosomal-associated 25 kDa protein)
• Protein function: t-SNARE involved in the molecular regulation of neurotransmitter release. May play an important role in the synaptic function of specific neuronal systems. Associates with proteins involved in vesicle docking and membrane fusion. Regulates plasm
• PDB: 1KIL, 1XTG, 2N1T, 3DDA, 3DDB, 3RK2, 3RK3, 3RL0, 3ZUR, 5W7I, 5W7J, 6JLH, 8BAN, 8BAV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00835	SNAP-25	91 → 141	SNAP-25 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Neurons of the neocortex, hippocampus, piriform cortex, anterior thalamic nuclei, pontine nuclei, and granule cells of the cerebellum.
• Sequence:

  MAEDADMRNELEEMQRRADQLADESLESTRRMLQLVEESKDAGIRTLVMLDEQGEQLERI
  EEGMDQINKDMKEAEKNLTDLGKFCGLCVCPCNKLKSSDAYKKAWGNNQDGVVASQPARV
  VDEREQMAISGGFIRRVTNDARENEMDENLEQVSGIIGNLRHMALDMGNEIDTQNRQIDR
  IMEKADSNKTRIDEANQRATKMLGSG

• Sequence length: 206

Pathways

KEGG:

Synaptic vesicle cycle
Insulin secretion

Reactome:

Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
Glutamate Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Acetylcholine Neurotransmitter Release Cycle
Other interleukin signaling
Toxicity of botulinum toxin type A (BoNT/A)
Toxicity of botulinum toxin type C (BoNT/C)
Toxicity of botulinum toxin type E (BoNT/E)
Neutrophil degranulation
GABA synthesis, release, reuptake and degradation

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital myasthenic syndrome 18	Likely pathogenic; Pathogenic	rs2064355563, rs2123063830, rs2123120544, rs2123159234, rs2123159470, rs2123120184, rs2514853451, rs2514785213, rs1555794286, rs2514853517, rs2514853315, rs2514853554, rs1600807788, rs2064355122	RCV001377079 RCV005414276 RCV005414277 RCV005414278 RCV005414279 RCV002249176 RCV002294544 RCV003033870 RCV000170319 RCV003751803 RCV003752065 RCV004551167 RCV000990282 RCV001267654	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs2064355563, rs2123063802, rs2123063830, rs2123063984, rs2123120184, rs2123120544, rs2123159234, rs2123159261, rs2123159524, rs2123205099, rs2123205311, rs2123003858, rs2123019421, rs2123159470, rs797044873, rs1555794286, rs2064355122	RCV001706731 RCV001706735 RCV001706873 RCV001706874 RCV001706875 RCV001706878 RCV001706879 RCV001706880 RCV001706881 RCV001706882 RCV001706883 RCV001706884 RCV001706885 RCV001706886 RCV001706164 RCV001706282 RCV001706728	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental and epileptic encephalopathy, 2	Pathogenic	rs2123205311	RCV002286496	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy with generalized tonic-clonic seizures	Likely pathogenic	rs797044873	RCV000190683	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Focal epilepsy	Likely pathogenic	rs797044873	RCV000190683	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs2123063802	RCV001526593	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs797044873	RCV000190683	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2064355122	RCV004594262	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Presynaptic congenital myasthenic syndrome	Likely pathogenic	rs2514833199	RCV002287617	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Severe intellectual disability	Likely pathogenic; Pathogenic	rs2123205311	RCV003223425	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SNAP25 related neurodevelopmental disorder	Likely pathogenic	rs2064355563	RCV001810043	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SNAP25-related developmental delays and epileptic encephalopathies	Likely pathogenic; Pathogenic	rs2123063830	RCV005868304	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SNAP25-related disorder	Likely pathogenic	rs2064355122	RCV004727065	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SNAP25-related early-onset developmental and epileptic encephalopathy	Likely pathogenic	rs2064355122	RCV001724282	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unilateral Hypotonia	Likely pathogenic	rs797044873	RCV000190683	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGEN MYASTHENIC SYNDROMES PRESYNAPTIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYCLIN-DEPENDENT KINASE-LIKE 5 DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSION, BIPOLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 117	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DOWN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSIES, PARTIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	CTD, ClinGen	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 18	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic atrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stereotypic movement disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONIC-CLONIC EPILEPSY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Inflammatory Demyelinating Polyneuropathy	Inflammatory Demyelinating Polyneuropathy	BEFREE	29940481		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	17471166, 20470859, 25812605, 28000876, 30380185		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	21303427		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11280778		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18457912		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	18633321		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	31705888		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20470859, 25812605, 28000876, 30380185		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	11004694		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	28339008, 31520595		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	3025859		★☆☆☆☆ Found in Text Mining only
Alagille Syndrome	Alagille Syndrome	BEFREE	9268641		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18194215, 26395074, 30342961, 30846386, 33765432, 36807763, 39650656, 40613333	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32776690, 36129947	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	30846386		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16410746, 30929165		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial Personality Disorder	BEFREE	21756448		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	21756448	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	36379720	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	3258841		★☆☆☆☆ Found in Text Mining only
Ataxias, Hereditary	Ataxia	BEFREE	10411345		★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	27888397		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	27888397		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	22832958	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	18194215, 20679152, 21756448, 22562805, 22773342, 27338073, 31426340, 36068994, 37285328	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	10889551, 11920846, 12232787, 12660803, 15578613, 15717291, 15719398, 16088329, 17455213, 17979583, 17980763, 19352218, 20002519, 20599404, 20679152, 21996783, 22584804, 22825876, 23872233, 25445064, 25629685, 25650683, 26821215, 26941099, 27338073, 27627841, 28130000, 28155241, 28761431, 28783930, 29694241, 30092259, 30452083, 30711898, 31352739		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32661233, 37762342	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21497654, 25629685, 27888397		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	24866414, 25629685		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	37762342	Associate	★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Lymphoblastic Leukemia	BEFREE	11097354, 22895079, 26317515, 2833755, 29578162		★☆☆☆☆ Found in Text Mining only
Behavioral tic	Tourette syndrome	CTD_human_DG	17023870		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	14708030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	18726138, 19125158		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	18726138, 19125158, 23064108		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	19125158, 28525603	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder Neoplasm	Bladder Neoplasm	BEFREE	11062688, 16357168		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	30914946		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	36008522	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35296631	Associate	★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11740050		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	11062688, 11435891, 16357168		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	28586351		★☆☆☆☆ Found in Text Mining only
Cataplexy	Cataplexy	BEFREE	30149182		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	30914946		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	36008522	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	20470859, 25812605, 28000876, 30380185		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	28339008, 31520595		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	25024311, 25629685, 29850799		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32776690, 36068994	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36129947	Inhibit	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	24885975	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms Hereditary Nonpolyposis	Lynch syndrome	Pubtator	35149954	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	29491473		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	3469019		★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Postsynaptic	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Presynaptic	Myasthenic Syndrome	ORPHANET_DG	25381298, 25792100		★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Presynaptic	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	10889551, 12660803, 16088329, 23593184, 26941099, 8825900		★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	19914852		★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	36379720	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	22832958	Inhibit	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30528858, 30914946		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	40613333	Associate	★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	30483048		★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	14708030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depression, Neurotic	Mental Depression	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	CTD_human_DG	14708030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	19679075		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	35468096	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Syndrome	Mental Depression	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	17980763, 30571671		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36379720	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16443778		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16443778, 23899607		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26779543	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	16123366		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26779543, 28163042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	27184832		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	24391914	Associate	★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	12499044		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down Syndrome	LHGDN	12499044		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Down Syndrome	Down syndrome	Pubtator	34302786	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35149954	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	33299146	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	33299146	Associate	★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	30071277		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	10436342		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	40613333	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	21073671		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	28575017	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	32412599	Inhibit	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hodgkin Disease	Hodgkin Disease	BEFREE	11004694, 2554995		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	17877635		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	17877635	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	36129947	Inhibit	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	16316340, 23899607		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	29548989		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	25893345		★☆☆☆☆ Found in Text Mining only
HYPERTRICHOSIS, CONGENITAL GENERALIZED	HYPERTRICHOSIS	BEFREE	27990727		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	39236027	Inhibit	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	18347838, 20002519, 25024311, 25629685, 30115118, 30374679, 30483048, 30914946		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	19557857, 22762387		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	22762387, 33299146	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ki-1+ Anaplastic Large Cell Lymphoma	Anaplastic Lymphoma	BEFREE	15588951, 30545064		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26317515, 30611980		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	11997524		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	36129947	Inhibit	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	40613333	Associate	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	28855684	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	29613842		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	39236027	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30188005, 7691638		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	17455213, 25650683		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	27301493		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	11062688, 16357168		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	3469019		★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	28339008, 31520595		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	28339008	Inhibit	★☆☆☆☆ Found in Text Mining only
Melancholia	Melancholia	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	27301493		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	36068994	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	19679075		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	24391914, 24885975, 28972123, 30790667		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	19557857		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30071277, 30790667		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25867398	Inhibit	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	25867398		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	37380951	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	29562515, 30115118, 30144541, 30528858, 30914946, 30958380		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	33299146	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30582321, 31121055		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30582321	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 18	Myasthenic Syndrome	UNIPROT_DG	25381298		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 18	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	27472506, 30914295		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 18	Myasthenic Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	36379720	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital, Slow Channel	Myasthenic Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	30545064		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	31192914		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	31192914	Associate	★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	28978487		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12778082, 20449589, 22479502, 27211102, 27301493, 28469959, 29613842, 3469019		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	19161380, 27734716, 29056461		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18617262, 27121208, 30389764		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	27121208	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30342961, 34638726	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	36129947	Inhibit	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	12499044, 28623007		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropathy	Neuropathy	BEFREE	30887907		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	18957941		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C1	Sphingomyelinase deficiency	BEFREE	26818574		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	36379720	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30071277, 31060275, 31570929		★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	BEFREE	10411345		★☆☆☆☆ Found in Text Mining only
Oppositional Defiant Disorder	Oppositional Defiant Disorder	BEFREE	21550019, 24481934, 30236592		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36736467	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	38527595	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	30183482		★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	BEFREE	30770101		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	LHGDN	18457912		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	29167402, 30334187		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33791366, 36736467	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	23899607		★☆☆☆☆ Found in Text Mining only
Personality Disorders	Personality Disorders	BEFREE	21756448, 28210229		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	31705888		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28210229		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	30817129		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30528858, 30914946		★☆☆☆☆ Found in Text Mining only
Presynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prolactinoma	Prolactinoma	LHGDN	18633321		★☆☆☆☆ Found in Text Mining only
Psychosis, Brief Reactive	Psychosis	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	CTD_human_DG	14708030		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychotic disorders	Pubtator	19806613	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10089007, 11287790, 15823421, 18347838, 18512733, 18726138, 19132710, 19806613, 22264613, 22940547, 25629685, 25650683, 28947383, 28972123, 29318050, 29511299, 30523404, 30579835, 30610939, 31653583		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	12814864		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	18194215, 19806613, 28525603	Associate	★☆☆☆☆ Found in Text Mining only
Schizophreniform Disorders	Schizophreniform Disorders	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28667353		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	11280778		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10198224		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	30071277		★☆☆☆☆ Found in Text Mining only
Sudden episodic apnea	Sudden episodic apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
TARSAL-CARPAL COALITION SYNDROME	Tarsal-Carpal Coalition Syndrome	BEFREE	16357168		★☆☆☆☆ Found in Text Mining only
Thrombophilia due to Activated Protein C Resistance	Thrombophilia	Pubtator	32661233	Associate	★☆☆☆☆ Found in Text Mining only
Tonic-Clonic Epilepsy	Tonic-Clonic Epilepsy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	CTD_human_DG	14708030		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	17455213, 25650683		★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	28978487		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Overactive	Overactive bladder	Pubtator	26241848	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	33299146	Associate	★☆☆☆☆ Found in Text Mining only