STX1A (syntaxin 1A)

Gene

• Entrez ID: 6804
• Gene name: Syntaxin 1A
• Gene symbol: STX1A
• Synonyms (NCBI Gene): HPC-1, P35-1, STX1, SYN1A
• Chromosome: 7
• Chromosome location: 7q11.23
• Summary: This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. Syntaxins possess a single C-terminal transmembrane domain, a SNARE

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006305	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22160687
MIRT006305	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22160687
MIRT006305	hsa-miR-34a-5p	Luciferase reporter assay, Western blot	22160687
MIRT018783	hsa-miR-335-5p	Microarray	18185580
MIRT030051	hsa-miR-26b-5p	Microarray	19088304
MIRT1400583	hsa-miR-1207-3p	CLIP-seq
MIRT1400584	hsa-miR-1207-5p	CLIP-seq
MIRT1400585	hsa-miR-1254	CLIP-seq
MIRT1400586	hsa-miR-1266	CLIP-seq
MIRT1400587	hsa-miR-128	CLIP-seq
MIRT1400588	hsa-miR-1285	CLIP-seq
MIRT1400589	hsa-miR-1302	CLIP-seq
MIRT1400590	hsa-miR-1587	CLIP-seq
MIRT1400591	hsa-miR-185	CLIP-seq
MIRT1400592	hsa-miR-1909	CLIP-seq
MIRT1400593	hsa-miR-200b	CLIP-seq
MIRT1400594	hsa-miR-200c	CLIP-seq
MIRT1400595	hsa-miR-217	CLIP-seq
MIRT1400596	hsa-miR-2682	CLIP-seq
MIRT1400597	hsa-miR-27a	CLIP-seq
MIRT1400598	hsa-miR-27b	CLIP-seq
MIRT1400599	hsa-miR-3064-5p	CLIP-seq
MIRT1400600	hsa-miR-3116	CLIP-seq
MIRT1400601	hsa-miR-3127-5p	CLIP-seq
MIRT1400602	hsa-miR-3135b	CLIP-seq
MIRT1400603	hsa-miR-3144-5p	CLIP-seq
MIRT1400604	hsa-miR-3151	CLIP-seq
MIRT1400605	hsa-miR-3187-5p	CLIP-seq
MIRT1400606	hsa-miR-3191	CLIP-seq
MIRT1400607	hsa-miR-3192	CLIP-seq
MIRT1400608	hsa-miR-3194-3p	CLIP-seq
MIRT1400609	hsa-miR-3545-5p	CLIP-seq
MIRT1400610	hsa-miR-3672	CLIP-seq
MIRT1400611	hsa-miR-378g	CLIP-seq
MIRT1400612	hsa-miR-3918	CLIP-seq
MIRT1400613	hsa-miR-4265	CLIP-seq
MIRT1400614	hsa-miR-4286	CLIP-seq
MIRT1400615	hsa-miR-429	CLIP-seq
MIRT1400616	hsa-miR-4290	CLIP-seq
MIRT1400617	hsa-miR-4296	CLIP-seq
MIRT1400618	hsa-miR-4298	CLIP-seq
MIRT1400619	hsa-miR-4306	CLIP-seq
MIRT1400620	hsa-miR-4314	CLIP-seq
MIRT1400621	hsa-miR-4322	CLIP-seq
MIRT1400622	hsa-miR-4418	CLIP-seq
MIRT1400623	hsa-miR-4433	CLIP-seq
MIRT1400624	hsa-miR-4436b-3p	CLIP-seq
MIRT1400625	hsa-miR-4447	CLIP-seq
MIRT1400626	hsa-miR-4472	CLIP-seq
MIRT1400627	hsa-miR-4487	CLIP-seq
MIRT1400628	hsa-miR-4492	CLIP-seq
MIRT1400629	hsa-miR-4498	CLIP-seq
MIRT1400630	hsa-miR-449c	CLIP-seq
MIRT1400631	hsa-miR-4512	CLIP-seq
MIRT1400632	hsa-miR-4518	CLIP-seq
MIRT1400633	hsa-miR-4644	CLIP-seq
MIRT1400634	hsa-miR-4646-5p	CLIP-seq
MIRT1400635	hsa-miR-4649-3p	CLIP-seq
MIRT1400636	hsa-miR-4652-5p	CLIP-seq
MIRT1400637	hsa-miR-4656	CLIP-seq
MIRT1400638	hsa-miR-4675	CLIP-seq
MIRT1400639	hsa-miR-4685-5p	CLIP-seq
MIRT1400640	hsa-miR-4704-3p	CLIP-seq
MIRT1400641	hsa-miR-4707-5p	CLIP-seq
MIRT1400642	hsa-miR-4722-5p	CLIP-seq
MIRT1400643	hsa-miR-4736	CLIP-seq
MIRT1400644	hsa-miR-4741	CLIP-seq
MIRT1400645	hsa-miR-4749-3p	CLIP-seq
MIRT1400646	hsa-miR-4763-3p	CLIP-seq
MIRT1400647	hsa-miR-486-3p	CLIP-seq
MIRT1400648	hsa-miR-491-5p	CLIP-seq
MIRT1400649	hsa-miR-509-3-5p	CLIP-seq
MIRT1400650	hsa-miR-509-5p	CLIP-seq
MIRT1400651	hsa-miR-604	CLIP-seq
MIRT1400652	hsa-miR-612	CLIP-seq
MIRT1400653	hsa-miR-647	CLIP-seq
MIRT1400654	hsa-miR-662	CLIP-seq
MIRT1400655	hsa-miR-760	CLIP-seq
MIRT1400656	hsa-miR-762	CLIP-seq
MIRT1400657	hsa-miR-885-3p	CLIP-seq
MIRT1400658	hsa-miR-940	CLIP-seq
MIRT1400583	hsa-miR-1207-3p	CLIP-seq
MIRT2120141	hsa-miR-1275	CLIP-seq
MIRT2120142	hsa-miR-22	CLIP-seq
MIRT1400599	hsa-miR-3064-5p	CLIP-seq
MIRT2120143	hsa-miR-331-3p	CLIP-seq
MIRT2120144	hsa-miR-370	CLIP-seq
MIRT1400612	hsa-miR-3918	CLIP-seq
MIRT1400622	hsa-miR-4418	CLIP-seq
MIRT2120145	hsa-miR-4469	CLIP-seq
MIRT2120146	hsa-miR-4665-5p	CLIP-seq
MIRT2120147	hsa-miR-4731-5p	CLIP-seq
MIRT1400649	hsa-miR-509-3-5p	CLIP-seq
MIRT1400650	hsa-miR-509-5p	CLIP-seq
MIRT1400651	hsa-miR-604	CLIP-seq
MIRT2120148	hsa-miR-625	CLIP-seq
MIRT1400653	hsa-miR-647	CLIP-seq
MIRT2342134	hsa-let-7a	CLIP-seq
MIRT2342135	hsa-let-7b	CLIP-seq
MIRT2342136	hsa-let-7c	CLIP-seq
MIRT2342137	hsa-let-7d	CLIP-seq
MIRT2342138	hsa-let-7e	CLIP-seq
MIRT2342139	hsa-let-7f	CLIP-seq
MIRT2342140	hsa-let-7g	CLIP-seq
MIRT2342141	hsa-let-7i	CLIP-seq
MIRT1400583	hsa-miR-1207-3p	CLIP-seq
MIRT2342142	hsa-miR-1236	CLIP-seq
MIRT1400588	hsa-miR-1285	CLIP-seq
MIRT2342143	hsa-miR-129-3p	CLIP-seq
MIRT1400593	hsa-miR-200b	CLIP-seq
MIRT1400594	hsa-miR-200c	CLIP-seq
MIRT1400599	hsa-miR-3064-5p	CLIP-seq
MIRT1400605	hsa-miR-3187-5p	CLIP-seq
MIRT2342144	hsa-miR-3678-5p	CLIP-seq
MIRT1400615	hsa-miR-429	CLIP-seq
MIRT1400616	hsa-miR-4290	CLIP-seq
MIRT1400622	hsa-miR-4418	CLIP-seq
MIRT1400623	hsa-miR-4433	CLIP-seq
MIRT1400624	hsa-miR-4436b-3p	CLIP-seq
MIRT2342145	hsa-miR-4458	CLIP-seq
MIRT2342146	hsa-miR-4462	CLIP-seq
MIRT2120145	hsa-miR-4469	CLIP-seq
MIRT2342147	hsa-miR-4500	CLIP-seq
MIRT2342148	hsa-miR-4687-5p	CLIP-seq
MIRT1400640	hsa-miR-4704-3p	CLIP-seq
MIRT1400641	hsa-miR-4707-5p	CLIP-seq
MIRT1400642	hsa-miR-4722-5p	CLIP-seq
MIRT1400649	hsa-miR-509-3-5p	CLIP-seq
MIRT1400650	hsa-miR-509-5p	CLIP-seq
MIRT1400651	hsa-miR-604	CLIP-seq
MIRT1400652	hsa-miR-612	CLIP-seq
MIRT2342149	hsa-miR-642a	CLIP-seq
MIRT1400653	hsa-miR-647	CLIP-seq
MIRT2342150	hsa-miR-765	CLIP-seq
MIRT2342151	hsa-miR-98	CLIP-seq
MIRT1400587	hsa-miR-128	CLIP-seq
MIRT1400588	hsa-miR-1285	CLIP-seq
MIRT1400597	hsa-miR-27a	CLIP-seq
MIRT1400598	hsa-miR-27b	CLIP-seq
MIRT1400605	hsa-miR-3187-5p	CLIP-seq
MIRT1400623	hsa-miR-4433	CLIP-seq
MIRT1400640	hsa-miR-4704-3p	CLIP-seq
MIRT1400642	hsa-miR-4722-5p	CLIP-seq
MIRT1400652	hsa-miR-612	CLIP-seq
MIRT2635960	hsa-miR-1205	CLIP-seq
MIRT2635961	hsa-miR-1255a	CLIP-seq
MIRT2635962	hsa-miR-1255b	CLIP-seq
MIRT1400586	hsa-miR-1266	CLIP-seq
MIRT1400590	hsa-miR-1587	CLIP-seq
MIRT2635963	hsa-miR-203	CLIP-seq
MIRT2635964	hsa-miR-2392	CLIP-seq
MIRT2635965	hsa-miR-31	CLIP-seq
MIRT1400601	hsa-miR-3127-5p	CLIP-seq
MIRT1400608	hsa-miR-3194-3p	CLIP-seq
MIRT2635966	hsa-miR-3605-5p	CLIP-seq
MIRT1400610	hsa-miR-3672	CLIP-seq
MIRT2635967	hsa-miR-3689a-3p	CLIP-seq
MIRT2635968	hsa-miR-3689c	CLIP-seq
MIRT1400611	hsa-miR-378g	CLIP-seq
MIRT2635969	hsa-miR-3907	CLIP-seq
MIRT2635970	hsa-miR-3913-3p	CLIP-seq
MIRT1400612	hsa-miR-3918	CLIP-seq
MIRT2635971	hsa-miR-3921	CLIP-seq
MIRT2635972	hsa-miR-4303	CLIP-seq
MIRT1400622	hsa-miR-4418	CLIP-seq
MIRT1400624	hsa-miR-4436b-3p	CLIP-seq
MIRT1400627	hsa-miR-4487	CLIP-seq
MIRT1400628	hsa-miR-4492	CLIP-seq
MIRT1400629	hsa-miR-4498	CLIP-seq
MIRT1400632	hsa-miR-4518	CLIP-seq
MIRT2635973	hsa-miR-4650-5p	CLIP-seq
MIRT2635974	hsa-miR-4653-5p	CLIP-seq
MIRT1400637	hsa-miR-4656	CLIP-seq
MIRT1400638	hsa-miR-4675	CLIP-seq
MIRT1400644	hsa-miR-4741	CLIP-seq
MIRT2635975	hsa-miR-489	CLIP-seq
MIRT1400649	hsa-miR-509-3-5p	CLIP-seq
MIRT1400650	hsa-miR-509-5p	CLIP-seq
MIRT1400654	hsa-miR-662	CLIP-seq
MIRT1400656	hsa-miR-762	CLIP-seq
MIRT1400586	hsa-miR-1266	CLIP-seq
MIRT1400590	hsa-miR-1587	CLIP-seq
MIRT2692354	hsa-miR-15a	CLIP-seq
MIRT2692355	hsa-miR-15b	CLIP-seq
MIRT2692356	hsa-miR-16	CLIP-seq
MIRT2692357	hsa-miR-195	CLIP-seq
MIRT2692358	hsa-miR-29a	CLIP-seq
MIRT2692359	hsa-miR-29b	CLIP-seq
MIRT2692360	hsa-miR-29c	CLIP-seq
MIRT2692361	hsa-miR-3065-3p	CLIP-seq
MIRT1400601	hsa-miR-3127-5p	CLIP-seq
MIRT1400608	hsa-miR-3194-3p	CLIP-seq
MIRT1400610	hsa-miR-3672	CLIP-seq
MIRT1400611	hsa-miR-378g	CLIP-seq
MIRT2635969	hsa-miR-3907	CLIP-seq
MIRT1400612	hsa-miR-3918	CLIP-seq
MIRT2635971	hsa-miR-3921	CLIP-seq
MIRT2692362	hsa-miR-424	CLIP-seq
MIRT2635972	hsa-miR-4303	CLIP-seq
MIRT1400627	hsa-miR-4487	CLIP-seq
MIRT1400628	hsa-miR-4492	CLIP-seq
MIRT1400629	hsa-miR-4498	CLIP-seq
MIRT1400632	hsa-miR-4518	CLIP-seq
MIRT2635974	hsa-miR-4653-5p	CLIP-seq
MIRT1400637	hsa-miR-4656	CLIP-seq
MIRT1400638	hsa-miR-4675	CLIP-seq
MIRT1400644	hsa-miR-4741	CLIP-seq
MIRT2692363	hsa-miR-490-3p	CLIP-seq
MIRT2692364	hsa-miR-497	CLIP-seq
MIRT2692365	hsa-miR-649	CLIP-seq
MIRT1400656	hsa-miR-762	CLIP-seq
MIRT2692366	hsa-miR-767-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IBA
GO:0000149	Function	SNARE binding	IEA
GO:0001956	Process	Positive regulation of neurotransmitter secretion	IEA
GO:0005484	Function	SNAP receptor activity	IBA
GO:0005484	Function	SNAP receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	10321247, 10481273, 12730201, 15459722, 16169070, 19748891, 20798282, 24722188, 26635000, 30610939, 32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12730201, 17543282, 24885604
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10099709
GO:0006836	Process	Neurotransmitter transport	IEA
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006887	Process	Exocytosis	IBA
GO:0006887	Process	Exocytosis	IEA
GO:0006906	Process	Vesicle fusion	IBA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	ISS
GO:0009629	Process	Response to gravity	IEA
GO:0010701	Process	Positive regulation of norepinephrine secretion	IEA
GO:0010701	Process	Positive regulation of norepinephrine secretion	ISS
GO:0010807	Process	Regulation of synaptic vesicle priming	IEA
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	IEA
GO:0016079	Process	Synaptic vesicle exocytosis	IDA	26635000
GO:0016079	Process	Synaptic vesicle exocytosis	IEA
GO:0016081	Process	Synaptic vesicle docking	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016925	Process	Protein sumoylation	IDA	26635000
GO:0017022	Function	Myosin binding	IEA
GO:0017156	Process	Calcium-ion regulated exocytosis	IEA
GO:0017157	Process	Regulation of exocytosis	IEA
GO:0019855	Function	Calcium channel inhibitor activity	IEA
GO:0019869	Function	Chloride channel inhibitor activity	IDA	18570918
GO:0019900	Function	Kinase binding	IPI	12730201
GO:0030073	Process	Insulin secretion	IEA
GO:0030141	Component	Secretory granule	IEA
GO:0030424	Component	Axon	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030674	Function	Protein-macromolecule adaptor activity	IEA
GO:0031201	Component	SNARE complex	IBA
GO:0031201	Component	SNARE complex	IDA	12730201, 19546860
GO:0031201	Component	SNARE complex	TAS	10099709
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0032028	Function	Myosin head/neck binding	IEA
GO:0032940	Process	Secretion by cell	IDA	12130530
GO:0032991	Component	Protein-containing complex	IEA
GO:0033605	Process	Positive regulation of catecholamine secretion	IEA
GO:0033605	Process	Positive regulation of catecholamine secretion	ISS
GO:0035493	Process	SNARE complex assembly	IEA
GO:0042641	Component	Actomyosin	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IPI	24722188, 32296183
GO:0043005	Component	Neuron projection	IDA	12115694
GO:0043005	Component	Neuron projection	IEA
GO:0043008	Function	ATP-dependent protein binding	IEA
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045055	Process	Regulated exocytosis	IEA
GO:0045202	Component	Synapse	IEA
GO:0045921	Process	Positive regulation of exocytosis	IEA
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IEA
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	ISS
GO:0046879	Process	Hormone secretion	IEA
GO:0048278	Process	Vesicle docking	IBA
GO:0048278	Process	Vesicle docking	IEA
GO:0048306	Function	Calcium-dependent protein binding	IEA
GO:0048488	Process	Synaptic vesicle endocytosis	IDA	26635000
GO:0048787	Component	Presynaptic active zone membrane	IEA
GO:0050796	Process	Regulation of insulin secretion	TAS	15537656
GO:0070032	Component	Synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex	IEA
GO:0070033	Component	Synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex	IEA
GO:0070044	Component	Synaptobrevin 2-SNAP-25-syntaxin-1a complex	IEA
GO:0072657	Process	Protein localization to membrane	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098815	Process	Modulation of excitatory postsynaptic potential	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	IEA

Other IDs

• MIM: 186590
• HGNC: 11433
• e!Ensembl: ENSG00000106089

Protein

• UniProt ID: Q16623
• Protein name: Syntaxin-1A (Neuron-specific antigen HPC-1)
• Protein function: Plays an essential role in hormone and neurotransmitter calcium-dependent exocytosis and endocytosis (PubMed:26635000). Part of the SNARE (Soluble NSF Attachment Receptor) complex composed of SNAP25, STX1A and VAMP2 which mediates the fusion of
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00804	Syntaxin	30 → 227	Syntaxin	Domain
  PF05739	SNARE	228 → 280	SNARE domain	Family

• Tissue specificity: TISSUE SPECIFICITY: [Isoform 1]: Highly expressed in embryonic spinal cord and ganglia and in adult cerebellum and cerebral cortex. {ECO:0000269|PubMed:10644452}.; TISSUE SPECIFICITY: [Isoform 2]: Expressed in heart, liver, fat, skeletal muscle, kidney an
• Sequence:

  MKDRTQELRTAKDSDDDDDVAVTVDRDRFMDEFFEQVEEIRGFIDKIAENVEEVKRKHSA
  ILASPNPDEKTKEELEELMSDIKKTANKVRSKLKSIEQSIEQEEGLNRSSADLRIRKTQH
  STLSRKFVEVMSEYNATQSDYRERCKGRIQRQLEITGRTTTSEELEDMLESGNPAIFASG
  IIMDSSISKQALSEIETRHSEIIKLENSIRELHDMFMDMAMLVESQGEMIDRIEYNVEHA
  VDYVERAVSDTKKAVKYQSKARRKKIMIIICCVILGIVIASTVGGIFA

• Sequence length: 288

Pathways

KEGG:

SNARE interactions in vesicular transport
Synaptic vesicle cycle
Insulin secretion
Huntington disease
Pathways of neurodegeneration - multiple diseases
Amphetamine addiction

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 C (BoNT/C)
LGI-ADAM interactions
GABA synthesis, release, reuptake and degradation
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane

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
Autism	Pathogenic; Likely pathogenic	rs2116737208, rs2116730968, rs2116724168	RCV002226571 RCV002226573 RCV002226575	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic; Likely pathogenic	rs2116737208, rs2116731315, rs2116730968, rs2116730958, rs2116724168, rs200456346	RCV002226571 RCV002226572 RCV002226573 RCV002226574 RCV002226575 RCV002226530	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental abnormality	Likely pathogenic	rs200456346	RCV001264639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic	rs2116731315, rs2116730958, rs200456346	RCV002226572 RCV002226574 RCV002226530	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREUTZFELDT-JAKOB DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STX1A-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILLIAMS SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	LHGDN	18457912		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12586365		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	12586365, 15037634	Associate	★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	22773342	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	22939005, 25445064, 27059771, 28130000, 28461697, 30976917, 31352739		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	27059771, 28235601		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	18593506, 21118708		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	18593506		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	18593506, 36564538	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Biliary cirrhosis	Biliary cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30672978		★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	36564538	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	36008522	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26673618		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26673618	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30672978		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	17944920		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	36008522	Stimulate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	28368034		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29912942		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31192914	Associate	★☆☆☆☆ Found in Text Mining only
Critical Illness	Critical illness	Pubtator	38275610	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	23572023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	ORPHANET_DG	23572023		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic fibrosis	Pubtator	23572023	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic fibrosis	Cystic Fibrosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Development Disorder	BEFREE	10874638		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36564538	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	16443778		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	16443778		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	20425788, 31192914	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	11719842, 17912268, 22939844, 28031464		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	16961636, 20219084, 29030168	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	29067685		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24375629, 27458546		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	27458546, 36564538	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Cryptogenic	Epilepsy	BEFREE	27458546		★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25803850		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25803850		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	12584187	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	18593506	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	11980959, 20219084, 31652648, 32635212	Associate	★☆☆☆☆ Found in Text Mining only
Hemolytic-Uremic Syndrome	Hemolytic Uremic Syndrome	BEFREE	10816611, 11807695, 12571029, 16131569, 16170761, 17085726, 17157559, 19548834, 21292859, 23402998, 24920783, 24987616, 26483409, 29939014, 30670557, 9767527, 9986852		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	20219084	Associate	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36564538	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	26709266	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26673618		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	17944920		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11104032		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30955216		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30672978		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17944920		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	26856328		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	19368856, 20385907, 22250207		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	37380951	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	30958380		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30582321		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	30582321	Associate	★☆☆☆☆ 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
Neoplasms	Neoplasms	BEFREE	11104032, 17944920, 26498690, 26673618, 30955216		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	17944920		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	LHGDN	18457912		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35563596	Associate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	27059771, 28235601		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	10364525, 10677314, 10712209, 11941539, 12145743, 9497242, 9877179, 9878249	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11104032		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10364525, 10677314, 11798061, 11941539, 12653398, 14735201, 16203993, 18289577, 18436282, 20564318, 9311739, 9497242	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	15219469, 18512733		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	15219469		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	15219469, 18512733		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30955216		★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin d deficiency	Pubtator	9690209	Associate	★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	10644452, 10874638, 11977160, 12586365, 20422020, 20662849, 9763659, 9915950		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams syndrome	Pubtator	12586365, 20422020, 20425788, 25105779, 35379245	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations