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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6804
Gene name	Syntaxin 1A
Gene symbol	STX1A
Synonyms (NCBI Gene)	HPC-1P35-1STX1SYN1A
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

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Show/Hide all (212)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006305	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22160687
MIRT006305	hsa-miR-34a-5p	Luciferase reporter assayWestern blot	22160687
MIRT006305	hsa-miR-34a-5p	Luciferase reporter assayWestern 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

Show/Hide all (83)

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

MIM	HGNC	e!Ensembl
186590	11433	ENSG00000106089

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

Interactions

View interactions

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

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism	Pathogenic; Likely pathogenic	rs2116737208, rs2116730968, rs2116724168	RCV002226571 RCV002226573 RCV002226575
Intellectual disability	Pathogenic; Likely pathogenic	rs2116737208, rs2116731315, rs2116730968, rs2116730958, rs2116724168, rs200456346	RCV002226571 RCV002226572 RCV002226573 RCV002226574 RCV002226575 RCV002226530
Neurodevelopmental abnormality	Likely pathogenic	rs200456346	RCV001264639
Seizure	Likely pathogenic	rs2116731315, rs2116730958, rs200456346	RCV002226572 RCV002226574 RCV002226530

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
STX1A-related disorder	Benign; Likely benign	rs2229854, rs782110427, rs2484575530, rs372364411	RCV003973817 RCV003927350 RCV003959565 RCV003969222

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Astrocytoma	Associate	12586365, 15037634
Attention Deficit Disorder with Hyperactivity	Associate	22773342
Autistic Disorder	Associate	18593506, 36564538
Brain Damage Chronic	Associate	36008522
Brain Diseases	Associate	36564538
Brain Ischemia	Associate	36008522
Breast Neoplasms	Associate	26673618
Carcinoma Neuroendocrine	Associate	32059362
Cerebral Infarction	Stimulate	36008522
Coronary Artery Disease	Associate	31192914
Critical Illness	Associate	38275610
Cystic Fibrosis	Associate	23572023
Developmental Disabilities	Associate	36564538
Diabetes Mellitus	Associate	20425788, 31192914
Diarrhea	Associate	16961636, 20219084, 29030168
Drug Related Side Effects and Adverse Reactions	Associate	12595468, 29599780
Drug Related Side Effects and Adverse Reactions	Stimulate	9690209
Epilepsy	Associate	27458546, 36564538
Fetal Alcohol Spectrum Disorders	Associate	35379245
Genetic Diseases Inborn	Associate	38275610
Glioma	Associate	12584187
Growth Disorders	Associate	18593506
Hemolytic Uremic Syndrome	Associate	11980959, 20219084, 31652648, 32635212
Hemorrhage	Associate	20219084
Hereditary leiomyomatosis and renal cell cancer	Associate	14982841
Heredodegenerative Disorders Nervous System	Associate	23925123
Immunologic Deficiency Syndromes	Associate	32635212
Intellectual Disability	Associate	36564538
Lymphohistiocytosis Hemophagocytic	Associate	26709266
Migraine Disorders	Associate	37380951
Multiple Sclerosis	Associate	30582321
Myocardial Ischemia	Associate	31192914
Neoplasm Metastasis	Associate	24641415
Neoplasms	Associate	18289577, 32059362
Neoplasms	Stimulate	26673618
Parkinson Disease	Associate	35563596
Prostate cancer familial	Associate	10364525, 10677314, 10712209, 11941539, 12145743, 9497242, 9877179, 9878249
Prostatic Neoplasms	Associate	10364525, 10677314, 11798061, 11941539, 12653398, 14735201, 16203993, 18289577, 18436282, 20564318, 9311739, 9497242
Signs and Symptoms Digestive	Associate	29030168
Vitamin D Deficiency	Associate	9690209
Williams Syndrome	Associate	12586365, 20422020, 20425788, 25105779, 35379245

STX1A (syntaxin 1A)