SYT1 (synaptotagmin 1)

Gene

• Entrez ID: 6857
• Gene name: Synaptotagmin 1
• Gene symbol: SYT1
• Synonyms (NCBI Gene): BAGOS, P65, SVP65, SYT
• Chromosome: 12
• Chromosome location: 12q21.2
• Summary: The synaptotagmins are integral membrane proteins of synaptic vesicles thought to serve as Ca(2+) sensors in the process of vesicular trafficking and exocytosis. Calcium binding to synaptotagmin-1 participates in triggering neurotransmitter release at the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144900171	C>G,T	Likely-benign, likely-pathogenic, pathogenic	Missense variant, synonymous variant, coding sequence variant
rs1135402761	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1555226395	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1565922388	T>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1565922395	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1565962725	C>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1593076474	->AGA	Likely-pathogenic	Coding sequence variant, inframe insertion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22160687
MIRT006304	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22160687
MIRT017696	hsa-miR-335-5p	Microarray	18185580
MIRT608797	hsa-miR-8485	HITS-CLIP	23313552
MIRT608797	hsa-miR-8485	HITS-CLIP	23313552
MIRT608796	hsa-miR-8064	HITS-CLIP	23313552
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	24906430
MIRT608796	hsa-miR-8064	HITS-CLIP	24906430
MIRT608796	hsa-miR-8064	HITS-CLIP	27418678
MIRT608796	hsa-miR-8064	HITS-CLIP	27418678
MIRT608797	hsa-miR-8485	HITS-CLIP	27418678
MIRT608797	hsa-miR-8485	HITS-CLIP	27418678
MIRT732846	hsa-miR-34c-5p	FACS, Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blotting	32092796
MIRT735901	hsa-miR-449a	Microarray, qRT-PCR	31788082
MIRT006304	hsa-miR-34a-5p	Microarray, qRT-PCR	31788082
MIRT608797	hsa-miR-8485	HITS-CLIP	23313552
MIRT608797	hsa-miR-8485	HITS-CLIP	23313552
MIRT608796	hsa-miR-8064	HITS-CLIP	23313552
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT608797	hsa-miR-8485	HITS-CLIP	23824327
MIRT1407233	hsa-miR-1	CLIP-seq
MIRT1407234	hsa-miR-1228	CLIP-seq
MIRT1407235	hsa-miR-1265	CLIP-seq
MIRT1407236	hsa-miR-1273e	CLIP-seq
MIRT1407237	hsa-miR-128	CLIP-seq
MIRT1407238	hsa-miR-1299	CLIP-seq
MIRT1407239	hsa-miR-148a	CLIP-seq
MIRT1407240	hsa-miR-148b	CLIP-seq
MIRT1407241	hsa-miR-152	CLIP-seq
MIRT1407242	hsa-miR-19a	CLIP-seq
MIRT1407243	hsa-miR-19b	CLIP-seq
MIRT1407244	hsa-miR-206	CLIP-seq
MIRT1407245	hsa-miR-208a	CLIP-seq
MIRT1407246	hsa-miR-208b	CLIP-seq
MIRT1407247	hsa-miR-2113	CLIP-seq
MIRT1407248	hsa-miR-25	CLIP-seq
MIRT1407249	hsa-miR-27a	CLIP-seq
MIRT1407250	hsa-miR-27b	CLIP-seq
MIRT1407251	hsa-miR-3189-3p	CLIP-seq
MIRT1407252	hsa-miR-32	CLIP-seq
MIRT1407253	hsa-miR-325	CLIP-seq
MIRT1407254	hsa-miR-329	CLIP-seq
MIRT1407255	hsa-miR-34a	CLIP-seq
MIRT1407256	hsa-miR-362-3p	CLIP-seq
MIRT1407257	hsa-miR-363	CLIP-seq
MIRT1407258	hsa-miR-3658	CLIP-seq
MIRT1407259	hsa-miR-367	CLIP-seq
MIRT1407260	hsa-miR-3673	CLIP-seq
MIRT1407261	hsa-miR-3688-3p	CLIP-seq
MIRT1407262	hsa-miR-3691-3p	CLIP-seq
MIRT1407263	hsa-miR-3923	CLIP-seq
MIRT1407264	hsa-miR-3941	CLIP-seq
MIRT1407265	hsa-miR-4432	CLIP-seq
MIRT1407266	hsa-miR-449b	CLIP-seq
MIRT1407267	hsa-miR-4680-3p	CLIP-seq
MIRT1407268	hsa-miR-4729	CLIP-seq
MIRT1407269	hsa-miR-499-5p	CLIP-seq
MIRT1407270	hsa-miR-513a-3p	CLIP-seq
MIRT1407271	hsa-miR-513a-5p	CLIP-seq
MIRT1407272	hsa-miR-520f	CLIP-seq
MIRT1407273	hsa-miR-603	CLIP-seq
MIRT1407274	hsa-miR-613	CLIP-seq
MIRT1407275	hsa-miR-616	CLIP-seq
MIRT1407276	hsa-miR-633	CLIP-seq
MIRT1407277	hsa-miR-635	CLIP-seq
MIRT1407278	hsa-miR-636	CLIP-seq
MIRT1407279	hsa-miR-875-3p	CLIP-seq
MIRT1407280	hsa-miR-92a	CLIP-seq
MIRT1407281	hsa-miR-92b	CLIP-seq
MIRT1407282	hsa-miR-936	CLIP-seq
MIRT1407237	hsa-miR-128	CLIP-seq
MIRT1407283	hsa-miR-1910	CLIP-seq
MIRT1407284	hsa-miR-2054	CLIP-seq
MIRT1407285	hsa-miR-224	CLIP-seq
MIRT1407286	hsa-miR-2278	CLIP-seq
MIRT1407249	hsa-miR-27a	CLIP-seq
MIRT1407250	hsa-miR-27b	CLIP-seq
MIRT1407287	hsa-miR-337-3p	CLIP-seq
MIRT1407288	hsa-miR-361-5p	CLIP-seq
MIRT1407289	hsa-miR-369-3p	CLIP-seq
MIRT1407290	hsa-miR-374a	CLIP-seq
MIRT1407291	hsa-miR-374b	CLIP-seq
MIRT1407264	hsa-miR-3941	CLIP-seq
MIRT1407292	hsa-miR-4274	CLIP-seq
MIRT1407293	hsa-miR-4469	CLIP-seq
MIRT1407294	hsa-miR-4517	CLIP-seq
MIRT1407295	hsa-miR-466	CLIP-seq
MIRT1407296	hsa-miR-4672	CLIP-seq
MIRT1407297	hsa-miR-4676-5p	CLIP-seq
MIRT1407298	hsa-miR-4704-3p	CLIP-seq
MIRT1407299	hsa-miR-575	CLIP-seq
MIRT1407300	hsa-miR-642a	CLIP-seq
MIRT1407301	hsa-miR-656	CLIP-seq
MIRT1407302	hsa-miR-200b	CLIP-seq
MIRT1407303	hsa-miR-200c	CLIP-seq
MIRT1407286	hsa-miR-2278	CLIP-seq
MIRT1407304	hsa-miR-429	CLIP-seq
MIRT1407305	hsa-miR-4711-5p	CLIP-seq
MIRT1407306	hsa-miR-518d-5p	CLIP-seq
MIRT1407307	hsa-miR-519b-5p	CLIP-seq
MIRT1407308	hsa-miR-519c-5p	CLIP-seq
MIRT1407309	hsa-miR-520c-5p	CLIP-seq
MIRT1407310	hsa-miR-526a	CLIP-seq
MIRT1407311	hsa-miR-576-5p	CLIP-seq
MIRT2122062	hsa-miR-3154	CLIP-seq
MIRT2122063	hsa-miR-129-3p	CLIP-seq
MIRT1407302	hsa-miR-200b	CLIP-seq
MIRT1407303	hsa-miR-200c	CLIP-seq
MIRT2122064	hsa-miR-2052	CLIP-seq
MIRT1407247	hsa-miR-2113	CLIP-seq
MIRT2122065	hsa-miR-2115	CLIP-seq
MIRT1407249	hsa-miR-27a	CLIP-seq
MIRT1407250	hsa-miR-27b	CLIP-seq
MIRT2122062	hsa-miR-3154	CLIP-seq
MIRT1407287	hsa-miR-337-3p	CLIP-seq
MIRT2122066	hsa-miR-338-5p	CLIP-seq
MIRT2122067	hsa-miR-340	CLIP-seq
MIRT2122068	hsa-miR-34c-3p	CLIP-seq
MIRT1407288	hsa-miR-361-5p	CLIP-seq
MIRT2122069	hsa-miR-362-5p	CLIP-seq
MIRT1407258	hsa-miR-3658	CLIP-seq
MIRT2122070	hsa-miR-3662	CLIP-seq
MIRT2122071	hsa-miR-3669	CLIP-seq
MIRT1407289	hsa-miR-369-3p	CLIP-seq
MIRT1407290	hsa-miR-374a	CLIP-seq
MIRT1407291	hsa-miR-374b	CLIP-seq
MIRT2122072	hsa-miR-376c	CLIP-seq
MIRT1407263	hsa-miR-3923	CLIP-seq
MIRT2122073	hsa-miR-4264	CLIP-seq
MIRT1407304	hsa-miR-429	CLIP-seq
MIRT2122074	hsa-miR-4452	CLIP-seq
MIRT2122075	hsa-miR-4474-3p	CLIP-seq
MIRT2122076	hsa-miR-4496	CLIP-seq
MIRT2122077	hsa-miR-4658	CLIP-seq
MIRT1407295	hsa-miR-466	CLIP-seq
MIRT2122078	hsa-miR-4666-3p	CLIP-seq
MIRT2122079	hsa-miR-4668-5p	CLIP-seq
MIRT2122080	hsa-miR-4690-3p	CLIP-seq
MIRT1407298	hsa-miR-4704-3p	CLIP-seq
MIRT2122081	hsa-miR-4727-3p	CLIP-seq
MIRT2122082	hsa-miR-4753-3p	CLIP-seq
MIRT2122083	hsa-miR-4758-5p	CLIP-seq
MIRT2122084	hsa-miR-4789-3p	CLIP-seq
MIRT2122085	hsa-miR-4796-5p	CLIP-seq
MIRT2122086	hsa-miR-4797-3p	CLIP-seq
MIRT2122087	hsa-miR-500b	CLIP-seq
MIRT2122088	hsa-miR-501-5p	CLIP-seq
MIRT2122089	hsa-miR-502-5p	CLIP-seq
MIRT2122090	hsa-miR-516a-3p	CLIP-seq
MIRT2122091	hsa-miR-654-3p	CLIP-seq
MIRT1407301	hsa-miR-656	CLIP-seq
MIRT1407236	hsa-miR-1273e	CLIP-seq
MIRT2122078	hsa-miR-4666-3p	CLIP-seq
MIRT1407233	hsa-miR-1	CLIP-seq
MIRT2461012	hsa-miR-1287	CLIP-seq
MIRT2461013	hsa-miR-129-5p	CLIP-seq
MIRT1407244	hsa-miR-206	CLIP-seq
MIRT2461014	hsa-miR-219-1-3p	CLIP-seq
MIRT2461015	hsa-miR-3135b	CLIP-seq
MIRT2461016	hsa-miR-3145-3p	CLIP-seq
MIRT1407260	hsa-miR-3673	CLIP-seq
MIRT1407274	hsa-miR-613	CLIP-seq
MIRT1407233	hsa-miR-1	CLIP-seq
MIRT2461012	hsa-miR-1287	CLIP-seq
MIRT2461013	hsa-miR-129-5p	CLIP-seq
MIRT2637859	hsa-miR-153	CLIP-seq
MIRT1407244	hsa-miR-206	CLIP-seq
MIRT2461014	hsa-miR-219-1-3p	CLIP-seq
MIRT2637860	hsa-miR-219-2-3p	CLIP-seq
MIRT2637861	hsa-miR-2355-3p	CLIP-seq
MIRT2637862	hsa-miR-2964a-3p	CLIP-seq
MIRT2461015	hsa-miR-3135b	CLIP-seq
MIRT2461016	hsa-miR-3145-3p	CLIP-seq
MIRT2637863	hsa-miR-3613-3p	CLIP-seq
MIRT2637864	hsa-miR-3646	CLIP-seq
MIRT2122070	hsa-miR-3662	CLIP-seq
MIRT1407260	hsa-miR-3673	CLIP-seq
MIRT2637865	hsa-miR-3924	CLIP-seq
MIRT2637866	hsa-miR-4259	CLIP-seq
MIRT2637867	hsa-miR-4277	CLIP-seq
MIRT2637868	hsa-miR-4282	CLIP-seq
MIRT2637869	hsa-miR-4427	CLIP-seq
MIRT1407267	hsa-miR-4680-3p	CLIP-seq
MIRT2637870	hsa-miR-4698	CLIP-seq
MIRT2637871	hsa-miR-4715-5p	CLIP-seq
MIRT2637872	hsa-miR-493	CLIP-seq
MIRT2637873	hsa-miR-494	CLIP-seq
MIRT2122089	hsa-miR-502-5p	CLIP-seq
MIRT2637874	hsa-miR-548ag	CLIP-seq
MIRT2637875	hsa-miR-548ai	CLIP-seq
MIRT2637876	hsa-miR-586	CLIP-seq
MIRT1407274	hsa-miR-613	CLIP-seq
MIRT2637877	hsa-miR-676	CLIP-seq
MIRT1407233	hsa-miR-1	CLIP-seq
MIRT2461012	hsa-miR-1287	CLIP-seq
MIRT2461013	hsa-miR-129-5p	CLIP-seq
MIRT2692540	hsa-miR-1302	CLIP-seq
MIRT1407244	hsa-miR-206	CLIP-seq
MIRT2461014	hsa-miR-219-1-3p	CLIP-seq
MIRT2461015	hsa-miR-3135b	CLIP-seq
MIRT2461016	hsa-miR-3145-3p	CLIP-seq
MIRT1407260	hsa-miR-3673	CLIP-seq
MIRT2692541	hsa-miR-3929	CLIP-seq
MIRT2692542	hsa-miR-4298	CLIP-seq
MIRT2692543	hsa-miR-4302	CLIP-seq
MIRT2692544	hsa-miR-4419b	CLIP-seq
MIRT2692545	hsa-miR-4478	CLIP-seq
MIRT2692546	hsa-miR-4648	CLIP-seq
MIRT2692547	hsa-miR-4654	CLIP-seq
MIRT2692548	hsa-miR-4769-5p	CLIP-seq
MIRT2122089	hsa-miR-502-5p	CLIP-seq
MIRT1407274	hsa-miR-613	CLIP-seq
MIRT2692549	hsa-miR-938	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IBA
GO:0000149	Function	SNARE binding	IEA
GO:0000149	Function	SNARE binding	ISS
GO:0001786	Function	Phosphatidylserine binding	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005513	Process	Detection of calcium ion	IEA
GO:0005513	Process	Detection of calcium ion	TAS	11438518
GO:0005515	Function	Protein binding	IPI	16525042, 19234194, 19284995, 20098747, 28298427, 28514442, 32296183, 33961781
GO:0005516	Function	Calmodulin binding	IEA
GO:0005543	Function	Phospholipid binding	IEA
GO:0005544	Function	Calcium-dependent phospholipid binding	IBA
GO:0005544	Function	Calcium-dependent phospholipid binding	IEA
GO:0005544	Function	Calcium-dependent phospholipid binding	ISS
GO:0005544	Function	Calcium-dependent phospholipid binding	TAS	12526776
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IEA
GO:0005737	Component	Cytoplasm	IDA	24327345
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006906	Process	Vesicle fusion	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	1840599
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0007269	Process	Neurotransmitter secretion	TAS	11438518
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008021	Component	Synaptic vesicle	TAS	11438518
GO:0008289	Function	Lipid binding	EXP	27191789
GO:0008289	Function	Lipid binding	IDA	27191789
GO:0014059	Process	Regulation of dopamine secretion	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016050	Process	Vesicle organization	IDA	27191789
GO:0016079	Process	Synaptic vesicle exocytosis	IEA
GO:0016192	Process	Vesicle-mediated transport	IBA
GO:0017075	Function	Syntaxin-1 binding	IEA
GO:0017075	Function	Syntaxin-1 binding	ISS
GO:0017157	Process	Regulation of exocytosis	TAS	11438518
GO:0017158	Process	Regulation of calcium ion-dependent exocytosis	IBA
GO:0017158	Process	Regulation of calcium ion-dependent exocytosis	IEA
GO:0019905	Function	Syntaxin binding	IEA
GO:0030141	Component	Secretory granule	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030276	Function	Clathrin binding	IEA
GO:0030348	Function	Syntaxin-3 binding	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030658	Component	Transport vesicle membrane	IEA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	IEA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0030672	Component	Synaptic vesicle membrane	IBA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	TAS
GO:0031045	Component	Dense core granule	IBA
GO:0031045	Component	Dense core granule	IEA
GO:0031338	Process	Regulation of vesicle fusion	IEA
GO:0031340	Process	Positive regulation of vesicle fusion	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033603	Process	Positive regulation of dopamine secretion	IEA
GO:0042584	Component	Chromaffin granule membrane	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0044306	Component	Neuron projection terminus	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0048278	Process	Vesicle docking	IEA
GO:0048306	Function	Calcium-dependent protein binding	IEA
GO:0048786	Component	Presynaptic active zone	IEA
GO:0048791	Process	Calcium ion-regulated exocytosis of neurotransmitter	IEA
GO:0050750	Function	Low-density lipoprotein particle receptor binding	IDA	15082773
GO:0050806	Process	Positive regulation of synaptic transmission	IEA
GO:0050806	Process	Positive regulation of synaptic transmission	ISS
GO:0051291	Process	Protein heterooligomerization	IEA
GO:0051592	Process	Response to calcium ion	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	ISS
GO:0060076	Component	Excitatory synapse	IEA
GO:0060201	Component	Clathrin-sculpted acetylcholine transport vesicle membrane	TAS
GO:0060203	Component	Clathrin-sculpted glutamate transport vesicle membrane	TAS
GO:0061202	Component	Clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane	TAS
GO:0061669	Process	Spontaneous neurotransmitter secretion	IEA
GO:0061891	Function	Calcium ion sensor activity	IBA
GO:0061891	Function	Calcium ion sensor activity	IEA
GO:0070083	Component	Clathrin-sculpted monoamine transport vesicle membrane	TAS
GO:0070382	Component	Exocytic vesicle	IBA
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0071277	Process	Cellular response to calcium ion	ISS
GO:0071911	Process	Synchronous neurotransmitter secretion	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098746	Process	Fast, calcium ion-dependent exocytosis of neurotransmitter	IEA
GO:0098746	Process	Fast, calcium ion-dependent exocytosis of neurotransmitter	ISS
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099502	Process	Calcium-dependent activation of synaptic vesicle fusion	IBA
GO:0099502	Process	Calcium-dependent activation of synaptic vesicle fusion	IEA
GO:0099523	Component	Presynaptic cytosol	IEA
GO:0099524	Component	Postsynaptic cytosol	IEA
GO:0140693	Function	Molecular condensate scaffold activity	IEA
GO:0140694	Process	Membraneless organelle assembly	IEA
GO:1903235	Process	Positive regulation of calcium ion-dependent exocytosis of neurotransmitter	IEA
GO:1903235	Process	Positive regulation of calcium ion-dependent exocytosis of neurotransmitter	ISS
GO:1903305	Process	Regulation of regulated secretory pathway	IEA
GO:1903305	Process	Regulation of regulated secretory pathway	ISS
GO:1903861	Process	Positive regulation of dendrite extension	IDA	23999003
GO:1903861	Process	Positive regulation of dendrite extension	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IBA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IEA

Other IDs

• MIM: 185605
• HGNC: 11509
• e!Ensembl: ENSG00000067715

Protein

• UniProt ID: P21579
• Protein name: Synaptotagmin-1 (Synaptotagmin I) (SytI) (p65)
• Protein function: Calcium sensor that participates in triggering neurotransmitter release at the synapse (By similarity). May have a regulatory role in the membrane interactions during trafficking of synaptic vesicles at the active zone of the synapse (By similar
• PDB: 2K45, 2K4A, 2K8M, 2KI6, 2LHA, 2N1T, 2R83, 3F00, 3F01, 3F04, 3F05, 4ISQ, 4V11, 6G5F, 6G5K, 6QNS, 6TZ3, 6U41, 6U4U, 6U4W, 6ZVN, 7TUA, 7U4Q, 8B8I
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00168	C2	157 → 263	C2 domain	Domain
  PF00168	C2	288 → 394	C2 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in melanocytes (PubMed:23999003). {ECO:0000269|PubMed:23999003}.
• Sequence:

  MVSESHHEALAAPPVTTVATVLPSNATEPASPGEGKEDAFSKLKEKFMNELHKIPLPPWA
  LIAIAIVAVLLVLTCCFCICKKCLFKKKNKKKGKEKGGKNAINMKDVKDLGKTMKDQALK
  DDDAETGLTDGEEKEEPKEEEKLGKLQYSLDYDFQNNQLLVGIIQAAELPALDMGGTSDP
  YVKVFLLPDKKKKFETKVHRKTLNPVFNEQFTFKVPYSELGGKTLVMAVYDFDRFSKHDI
  IGEFKVPMNTVDFGHVTEEWRDLQSAEKEEQEKLGDICFSLRYVPTAGKLTVVILEAKNL
  KKMDVGGLSDPYVKIHLMQNGKRLKKKKTTIKKNTLNPYYNESFSFEVPFEQIQKVQVVV
  TVLDYDKIGKNDAIGKVFVGYNSTGAELRHWSDMLANPRRPIAQWHTLQVEEEVDAMLAV
  KK

• Sequence length: 422

Pathways

KEGG:

Synaptic vesicle cycle

Reactome:

Serotonin Neurotransmitter Release Cycle
Norepinephrine Neurotransmitter Release Cycle
Glutamate Neurotransmitter Release Cycle
Dopamine Neurotransmitter Release Cycle
Acetylcholine Neurotransmitter Release Cycle
Toxicity of botulinum toxin type B (BoNT/B)
Toxicity of botulinum toxin type G (BoNT/G)
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
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
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	Pathogenic; Likely pathogenic	rs1377017458, rs2136007608, rs2136007588, rs2547785983, rs2547708515, rs2547658386, rs1135402761, rs1565922388, rs1565922395, rs1565962725, rs144900171, rs1593076474	RCV001788529 RCV001724785 RCV002246756 RCV002283762 RCV002289190 RCV002510484 RCV000735268 RCV000735271 RCV000735272 RCV000735269 RCV000735270 RCV001027965	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2138866856	RCV001375033	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic intellectual disability	Pathogenic	rs1565962725	RCV001254686	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SYT1-associated neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1135402761, rs1565922388, rs1565922395, rs1565962725, rs144900171	RCV000721124 RCV000721122 RCV000721123 RCV000721125 RCV000721126	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL ENAMEL HYPOPLASIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYT1-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	26378023		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	12458326		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	21901538		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	27959400, 30570131, 31671079		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	12214859, 28317833		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17078054, 17493236, 9918209		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25499851, 25820700, 29207489		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	16849549, 20556833		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12722795		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	26910375		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	30038018		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12458326		★☆☆☆☆ Found in Text Mining only
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	21128778		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	21161674, 21492457		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	16453001, 25706397, 29600938, 30258009		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30342961	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32483284, 32776690	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	15660915		★☆☆☆☆ Found in Text Mining only
Ameloblastoma	Ameloblastoma	BEFREE	11561755		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29297151		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22084410, 27512062		★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	30326340		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	22984424, 31485664		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23592772, 27454293		★☆☆☆☆ Found in Text Mining only
Antisocial Personality Disorder	Antisocial personality disorder	Pubtator	31059723	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29257205, 31637885		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	21683061, 26370562, 28107661		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	29932372		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	11381677		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29257205, 31637885		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	31059723, 31562556	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	28130000, 28461697		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29896252, 30688264, 31579948, 31599399		★☆☆☆☆ Found in Text Mining only
B-CELL MALIGNANCY, LOW-GRADE	Lymphocytic Leukemia	BEFREE	15744353		★☆☆☆☆ Found in Text Mining only
BAKER-GORDON SYNDROME	Baker-Gordon Syndrome	CLINVAR_DG	25705886, 25712080, 30107533		★☆☆☆☆ Found in Text Mining only
BAKER-GORDON SYNDROME	Baker-Gordon Syndrome	ORPHANET_DG	25705886, 30107533		★☆☆☆☆ Found in Text Mining only
BAKER-GORDON SYNDROME	Baker-Gordon Syndrome	UNIPROT_DG	25705886, 25712080, 30107533		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	25369740, 28629334, 28772241		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	25029242		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	9785009		★☆☆☆☆ Found in Text Mining only
Brain Infarction	Brain Infarction	BEFREE	31203481		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	35257887	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	15029197		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15481028, 22821148, 25544568, 29041983, 29181822, 30052635, 31077746		★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium metabolism disorders	Pubtator	21102408	Associate	★☆☆☆☆ Found in Text Mining only
Cancer of Nasopharynx	Nasopharyngeal Cancer	BEFREE	25487615		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21996728	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17078054, 19157506, 20546338, 26450901		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	25369740, 28629334, 28772241		★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	29573243		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17078054, 24469051, 27046058		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28167529, 29050320		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31494123		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21999375, 30911939		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	17098279, 23382863, 23640294, 25960241, 31460012, 31545447		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	17098279, 23382863, 23640294, 25960241, 31460012, 31545447		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	10720133, 12458326		★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	21128778		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	21161674, 21492457		★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	28259870		★☆☆☆☆ Found in Text Mining only
Chronic leukemia (category)	Leukemia	BEFREE	12458326		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	12458326, 15744353		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	29932372, 30588579		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	31562556, 32776690	Associate	★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	22310934	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28153604, 28216640, 29901086, 30430451, 8782457		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15013430, 24001836, 26942699, 31838134		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	22949302, 27175800		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15028307, 15484295, 16284690, 20501702, 22869145, 27338835, 28817833, 30816524, 30825051		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36160034	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	9785009		★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	20797985		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	21167650, 29935727		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28355355, 29849452		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30581189		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	8782457, 9928378		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31607634		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	25369740		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	20822710, 26209501, 26816250, 28000846, 28482921, 28537665, 28642243, 29072705, 29333456, 31545916		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	21905285, 30665389		★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	26907088		★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	28464025, 29767264, 30551443, 30642981		★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	15660915, 28713916		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	28713916		★☆☆☆☆ Found in Text Mining only
Desmoplastic Small Round Cell Tumor	Desmoplastic Tumor	BEFREE	27180056, 9344317		★☆☆☆☆ Found in Text Mining only
Deuteranomaly	Deuteranomaly	BEFREE	31032942		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35101335	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28534138		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28534138		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30076618		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29475461		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	24608443, 24936866, 28478303, 29104634, 30038056		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29853786, 31599399		★☆☆☆☆ Found in Text Mining only
Differentiated Thyroid Gland Carcinoma	Thyroid Carcinoma	BEFREE	22438958		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	26498772		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	23830204		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11668675, 12110842, 14715137, 15456828, 15492212, 18275379, 19344873, 19926819, 21307261, 23283333, 24183019, 25698934, 25705886, 25775572, 26030874, 27476655, 7477324, 7954835		★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	31638207		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	21515911		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	15660915		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	31049785		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22711307		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	BEFREE	24118362, 29679753		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	24118362		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	31788082		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18779938, 29393419		★☆☆☆☆ Found in Text Mining only
Epiretinal Membrane	Epiretinal Membrane	BEFREE	28402943		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28167529		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22292433		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22292433		★☆☆☆☆ Found in Text Mining only
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	20660338		★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	35101335	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	24501220		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	24501220		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28038359		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	8234333		★☆☆☆☆ Found in Text Mining only
Follicular adenoma	Adenoma	BEFREE	12722795		★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	30322331		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	BEFREE	25037760		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	31093481		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	11381677, 21423202, 24244348, 27994064, 28465487, 28497156, 29062041, 29449895		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	11381677, 21423202, 24244348, 27994064, 28465487, 28497156, 29062041, 29449895, 31332862		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28465487, 28969029, 30740911, 30779920, 30978403		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glucocorticoid Receptor Deficiency	Glucocorticoid Receptor Deficiency	BEFREE	15200413		★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	24501220		★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Gray Platelet Syndrome	BEFREE	28450921		★☆☆☆☆ Found in Text Mining only
Growth Hormone-Secreting Pituitary Adenoma	Somatotroph Adenoma	BEFREE	31391849		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	31572379		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	20797985		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	18809715, 19208907, 20599797, 25610879, 28148567, 30151392		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	31678650		★☆☆☆☆ Found in Text Mining only
Hypersplenism	Hypersplenism	BEFREE	23195252		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	30065083		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	18472049		★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	BEFREE	31252266		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	28713915		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29442198, 30591962, 31841209		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30928090		★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	19037255, 29230705, 30519926		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31660818		★☆☆☆☆ Found in Text Mining only
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Inflammatory abnormality of the eye	Inflammatory abnormality of the eye	BEFREE	28609207		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	29156761, 9928378		★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	28464025, 30642981		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	19557857		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	25705886, 30107533		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35101335	Associate	★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	28646230, 30076618		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disorder	Intervertebral Disc Disorder	BEFREE	30076618		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	30808715		★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	11753981		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	28525373		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30961627		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	28315683, 29723660, 31754396		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30257316		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	21832251		★☆☆☆☆ Found in Text Mining only
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Myasthenic Syndrome	BEFREE	31236596		★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	26395262		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	12458326, 23445492, 28832545		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12458326, 19079347, 23077289, 23457487, 25092144		★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	16453001, 25706397, 29600938, 30258009		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	16998793		★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	24505276	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma, Myxoid	liposarcoma	BEFREE	21128778		★☆☆☆☆ Found in Text Mining only
Liposarcoma, well differentiated	liposarcoma	BEFREE	24505276		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16544977, 18972404, 21771706, 22008847, 22293202, 22930530, 23054188, 24760275, 26458400, 28260799, 28423737, 29089476, 29616186, 29988727, 30169594, 30277836, 30455641, 31469428, 31680772		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	23195252		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	28447718, 29191769		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	21771706, 22008847, 22293202		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	28295231		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	28295231		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12027419, 12847689, 28295231		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	28714469		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	28295231		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	30542119		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15481028, 17369819, 22821148, 25544568, 29041983, 29181822, 30052635, 31077746		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22711307		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22292433		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	31187116		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of larynx	Larynx cancer	BEFREE	29573243		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	21771706		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17078054, 24469051, 27046058		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	16998793		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of nasopharynx	Nasopharyngeal carcinoma	BEFREE	25487615		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29050320		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19880242, 20686216		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12569576, 12727841, 21169414, 24066029, 25749044, 26165401, 26359363, 26450901, 27673408, 31265453		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16284690, 24673584, 26934326		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	12722795, 29525603, 30171715, 31181609		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	25369740, 28629334, 28772241		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11274403, 15028307, 15192014, 15328189, 16849535, 17403432, 17418413, 17671195, 18519709, 19201992, 19385976, 20009901, 22941571, 25405520, 26592237, 26934326, 27454293, 28397014, 28899500, 29065834, 29337531, 29620225, 30014762, 30274235, 30671574, 30993883, 31265453, 31545447, 31820042		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	12004001, 21128778		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	17098279, 23382863, 23640294, 25960241, 31460012, 31545447		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15013430, 24001836, 26942699, 31838134		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	22941571, 24970818		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	21161674, 21492457		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	24130172, 25277211, 28821433		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	26856328		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	19557857		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26052894		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34126933	Associate	★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	19079347		★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	35101335	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	35101335	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	28587409		★☆☆☆☆ Found in Text Mining only
Mucosa-Associated Lymphoid Tissue Lymphoma	Mucosa-associated lymphoma	BEFREE	16917511		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25565020		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	17258784, 17889033, 26062845, 29503661, 29655870, 31362762		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	17380205, 27997693		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19079347		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	20482842, 27492973, 28461114		★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28355355, 29849452		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	19068102, 21442076		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	15967702, 20051109, 23975427, 25487615, 31427673		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10397263, 10416616, 10718206, 10824918, 10870681, 11172303, 11368913, 11422798, 11433527, 11753981, 11782370, 11957149, 12173050, 12377409, 12469233, 12740642, 14553945, 14649326, 15028307, 15045545, 15210855, 15350633, 15561777, 15641030, 1566083, 15725802, 15735574, 15747098, 15905690, 16226798, 16327981, 16462762, 16557383, 16957934, 17078054, 17175375, 18079962, 18202796, 19201992, 19385976, 20155347, 20660338, 21128778, 21901538, 22186294, 22552693, 23300567, 24228088, 24922679, 25230791, 25238407, 25499851, 26250366, 26395262, 26398300, 26487364, 27175800, 27830724, 27989877, 28209913, 28222771, 28423692, 28545028, 28548219, 28858735, 29017500, 29062041, 29218246, 29467844, 29573243, 30014762, 30169594, 30219714, 30372446, 30643424, 30740911, 30903649, 30932261, 31221816, 31680772, 31769216, 8234333, 9428816, 9556426, 9739025, 9788446		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	28849172		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	28865949		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20103633, 23071666		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30946927		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30107533		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	20051109		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31252266		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	17078054, 25156800, 26336823, 29363879, 29535539, 30932261		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oppositional Defiant Disorder	Oppositional Defiant Disorder	BEFREE	28461697		★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	28829242		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29091322, 30854667		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	28478803		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29628496, 29847772, 30387173, 31262893		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29050320		★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	24001836		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19880242		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	20556833, 27454293		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	19880242		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	29359164		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	16849549, 17962362		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	26637328, 31181609		★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	BEFREE	20974637		★☆☆☆☆ Found in Text Mining only
Pelger-Huet Anomaly	Pelger-Huet Anomaly	BEFREE	8450395		★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	30184545		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	25037760, 29287688		★☆☆☆☆ Found in Text Mining only
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A	Zellweger Syndrome	BEFREE	28028753		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	30038018		★☆☆☆☆ Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS	Pigmentary Disorder, Reticulate, With Systemic Manifestations	BEFREE	28402943		★☆☆☆☆ Found in Text Mining only
Pleural Diseases	Pleural diseases	Pubtator	25948355	Associate	★☆☆☆☆ Found in Text Mining only
Polyendocrinopathies, Autoimmune	Autoimmune Polyendocrinopathy	BEFREE	28734155		★☆☆☆☆ Found in Text Mining only
Primary Ciliary Dyskinesia	Ciliary dyskinesia	BEFREE	31236596		★☆☆☆☆ Found in Text Mining only
Proliferative diabetic retinopathy	Proliferative Diabetic Retinopathy	BEFREE	28402943		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12569576, 12727841, 15498932, 24066029, 25749044, 26165401, 26359363, 26450901, 27673408, 31265453		★☆☆☆☆ Found in Text Mining only
Prostatic Intraepithelial Neoplasias	Prostatic Neoplasms	BEFREE	15328189		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	26253870		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	28713916, 30551443		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	23583295		★☆☆☆☆ Found in Text Mining only
RELA fusion-positive ependymoma	RELA Fusion-Positive Ependymoma	BEFREE	30929114		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	31187116		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29935727		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Adult	Respiratory Distress Syndrome	BEFREE	31214773, 31281400		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	17334332, 20494139		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	11884470, 19877072, 20822710, 21683061, 23072581, 26370562, 28467992, 28783661, 29784872, 29966968, 30152858, 31239367		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	12469233, 15747098, 16142418, 20512480, 21996728, 22594313, 26250552, 27621063, 28498445, 9428816, 9688183		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	25300797, 26250552	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma of kidney	Sarcoma Of Kidney	BEFREE	29751751		★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	10229776, 10685642, 10879732, 10889911, 11308259, 11734557, 11826189, 12218218, 12414507, 12683902, 15147271, 15467731, 15641030, 15679430, 16056249, 16740029, 17101797, 17110350, 17186289, 17334346, 18296877, 19267417, 19385976, 19936258, 20082858, 20109354, 20126590, 20544709, 21092139, 21128778, 21234732, 21333201, 21996728, 23021509, 23110793, 24436244, 24502105, 26045850, 26250366, 26875964, 27568668, 27755806, 29491688, 32458628, 7495284, 7539744, 8579118, 9428816, 9846971	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	22139845		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	15972680, 24913772, 26159927, 28800541		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	BEFREE	17040605		★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	27754829		★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	16462762, 9344317, 9785009		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	31019235		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11753981, 17237265, 20051109		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	16680372, 22186294, 22552693, 26439687, 26718331, 30542119		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31698994	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	30646812		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	20716363, 24063540		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	29518496, 30250646		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31061316		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	18290776		★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Steroid resistant nephrotic syndrome of childhood	Steroid resistant nephrotic syndrome	BEFREE	15200413		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11751513, 16284690, 24673584, 26934326		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	23021509	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30018671		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	10072425, 10191774, 10217560, 10229776, 10397263, 10398111, 10565298, 10718206, 10824918, 10879732, 10889911, 10935649, 11107054, 11107170, 11172303, 11224613, 11274403, 11308259, 11368913, 11423977, 11433527, 11435705, 11561755, 11607825, 11720441, 11782370, 11826189, 11957149, 12004001, 12037676, 12065783, 12097301, 12133991, 12150740, 12173050, 12409719, 12469233, 12683902, 12687023, 12707378, 12963121, 14576825, 14669292, 15045545, 15069540, 15140553, 15163010, 15350633, 15364967, 15641030, 15725802, 15735574, 15747098, 15838395, 15879502, 15905690, 16103879, 16106193, 16142418, 16220269, 16462762, 16547469, 16556060, 16682293, 16849535, 16861763, 16926188, 16957934, 17101797, 17175375, 17197895, 17334332, 17418413, 17707262, 18202796, 18460022, 18563504, 19267417, 19337376, 19385976, 19837269, 19936258, 20660338, 20829680, 21234732, 21454665, 21996728, 22098598, 22594313, 23313505, 24228088, 24436244, 24966982, 26905812, 27118264, 27362474, 27621063, 27697479, 28498445, 29455826, 29491688, 30219714, 31161693, 31173483, 31367627, 7495284, 7951320, 8697803, 8760306, 9285793, 9428816, 9556426, 9688183, 9788446, 9846971, 9990487		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	22139845		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	30946927		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	29117154	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	12722795, 29525603, 30014762, 30171715, 31181609, 9365245		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	BEFREE	12722795		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29525603, 30171715, 31181609		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	27393618, 29487338, 30612216		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	15133865, 15753535, 18996285, 19369513, 31714673, 9928378		★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	31837307		★☆☆☆☆ Found in Text Mining only