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	6843
Gene name	Vesicle associated membrane protein 1
Gene symbol	VAMP1
Synonyms (NCBI Gene)	CMS25SAX1SPAX1SYB1VAMP-1
Chromosome	12
Chromosome location	12p13.31
Summary	Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member

248

Show/Hide all (248)

miRTarBase ID	miRNA	Experiments	Reference
MIRT710248	hsa-miR-6819-3p	HITS-CLIP	19536157
MIRT710247	hsa-miR-6877-3p	HITS-CLIP	19536157
MIRT710246	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT710245	hsa-miR-1266-3p	HITS-CLIP	19536157
MIRT710244	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT710243	hsa-miR-2682-3p	HITS-CLIP	19536157
MIRT710242	hsa-miR-6781-3p	HITS-CLIP	19536157
MIRT710241	hsa-miR-4757-5p	HITS-CLIP	19536157
MIRT710240	hsa-miR-6744-3p	HITS-CLIP	19536157
MIRT710239	hsa-miR-3677-3p	HITS-CLIP	19536157
MIRT710238	hsa-miR-6878-3p	HITS-CLIP	19536157
MIRT710237	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT496351	hsa-miR-4662a-3p	PAR-CLIP	22291592
MIRT496350	hsa-miR-3929	PAR-CLIP	22291592
MIRT496349	hsa-miR-4419b	PAR-CLIP	22291592
MIRT496348	hsa-miR-4478	PAR-CLIP	22291592
MIRT496347	hsa-miR-4671-5p	PAR-CLIP	22291592
MIRT496346	hsa-miR-4663	PAR-CLIP	22291592
MIRT488541	hsa-miR-548b-3p	PAR-CLIP	23592263
MIRT488539	hsa-miR-1255b-2-3p	PAR-CLIP	23592263
MIRT488538	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT488537	hsa-miR-874-5p	PAR-CLIP	23592263
MIRT488536	hsa-miR-296-5p	PAR-CLIP	23592263
MIRT439316	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT726149	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT726150	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT439316	hsa-miR-205-5p	HITS-CLIP	22473208
MIRT734958	hsa-miR-15b-5p	Luciferase reporter assayWestern blottingqRT-PCR	32209659
MIRT710248	hsa-miR-6819-3p	HITS-CLIP	19536157
MIRT710247	hsa-miR-6877-3p	HITS-CLIP	19536157
MIRT710246	hsa-miR-877-3p	HITS-CLIP	19536157
MIRT710245	hsa-miR-1266-3p	HITS-CLIP	19536157
MIRT710244	hsa-miR-1236-3p	HITS-CLIP	19536157
MIRT710243	hsa-miR-2682-3p	HITS-CLIP	19536157
MIRT710242	hsa-miR-6781-3p	HITS-CLIP	19536157
MIRT710241	hsa-miR-4757-5p	HITS-CLIP	19536157
MIRT710240	hsa-miR-6744-3p	HITS-CLIP	19536157
MIRT710239	hsa-miR-3677-3p	HITS-CLIP	19536157
MIRT710238	hsa-miR-6878-3p	HITS-CLIP	19536157
MIRT710237	hsa-miR-7152-5p	HITS-CLIP	19536157
MIRT496351	hsa-miR-4662a-3p	PAR-CLIP	22291592
MIRT496350	hsa-miR-3929	PAR-CLIP	22291592
MIRT496349	hsa-miR-4419b	PAR-CLIP	22291592
MIRT496348	hsa-miR-4478	PAR-CLIP	22291592
MIRT496347	hsa-miR-4671-5p	PAR-CLIP	22291592
MIRT496346	hsa-miR-4663	PAR-CLIP	22291592
MIRT488541	hsa-miR-548b-3p	PAR-CLIP	23592263
MIRT488539	hsa-miR-1255b-2-3p	PAR-CLIP	23592263
MIRT488538	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT488537	hsa-miR-874-5p	PAR-CLIP	23592263
MIRT488536	hsa-miR-296-5p	PAR-CLIP	23592263
MIRT1481594	hsa-miR-1178	CLIP-seq
MIRT1481595	hsa-miR-1915	CLIP-seq
MIRT1481596	hsa-miR-4684-3p	CLIP-seq
MIRT1481597	hsa-miR-1207-5p	CLIP-seq
MIRT1481598	hsa-miR-1253	CLIP-seq
MIRT1481599	hsa-miR-138	CLIP-seq
MIRT1481600	hsa-miR-3150b-3p	CLIP-seq
MIRT1481601	hsa-miR-3151	CLIP-seq
MIRT1481602	hsa-miR-3173-3p	CLIP-seq
MIRT1481603	hsa-miR-3612	CLIP-seq
MIRT1481604	hsa-miR-3689a-3p	CLIP-seq
MIRT1481605	hsa-miR-3689c	CLIP-seq
MIRT1481606	hsa-miR-4270	CLIP-seq
MIRT1481607	hsa-miR-4271	CLIP-seq
MIRT1481608	hsa-miR-4283	CLIP-seq
MIRT1481609	hsa-miR-4423-3p	CLIP-seq
MIRT1481610	hsa-miR-4425	CLIP-seq
MIRT1481611	hsa-miR-4432	CLIP-seq
MIRT1481612	hsa-miR-4434	CLIP-seq
MIRT1481613	hsa-miR-4441	CLIP-seq
MIRT1481614	hsa-miR-4456	CLIP-seq
MIRT1481615	hsa-miR-4489	CLIP-seq
MIRT1481616	hsa-miR-4492	CLIP-seq
MIRT1481617	hsa-miR-4498	CLIP-seq
MIRT1481618	hsa-miR-4514	CLIP-seq
MIRT1481619	hsa-miR-4516	CLIP-seq
MIRT1481620	hsa-miR-4692	CLIP-seq
MIRT1481621	hsa-miR-4693-3p	CLIP-seq
MIRT1481622	hsa-miR-4695-5p	CLIP-seq
MIRT1481623	hsa-miR-4725-3p	CLIP-seq
MIRT1481624	hsa-miR-4761-5p	CLIP-seq
MIRT1481625	hsa-miR-4763-3p	CLIP-seq
MIRT1481626	hsa-miR-4784	CLIP-seq
MIRT1481627	hsa-miR-508-5p	CLIP-seq
MIRT1481628	hsa-miR-518a-5p	CLIP-seq
MIRT1481629	hsa-miR-527	CLIP-seq
MIRT1481630	hsa-miR-541	CLIP-seq
MIRT1481631	hsa-miR-583	CLIP-seq
MIRT1481632	hsa-miR-595	CLIP-seq
MIRT1481633	hsa-miR-650	CLIP-seq
MIRT1481634	hsa-miR-654-5p	CLIP-seq
MIRT1481635	hsa-miR-665	CLIP-seq
MIRT1481636	hsa-miR-762	CLIP-seq
MIRT1481637	hsa-miR-765	CLIP-seq
MIRT1481638	hsa-miR-769-5p	CLIP-seq
MIRT1481639	hsa-miR-940	CLIP-seq
MIRT2144886	hsa-miR-4311	CLIP-seq
MIRT2365233	hsa-miR-103a	CLIP-seq
MIRT2365234	hsa-miR-107	CLIP-seq
MIRT2365235	hsa-miR-1193	CLIP-seq
MIRT2365236	hsa-miR-1252	CLIP-seq
MIRT2365237	hsa-miR-1281	CLIP-seq
MIRT2365238	hsa-miR-1293	CLIP-seq
MIRT2365239	hsa-miR-1302	CLIP-seq
MIRT2365240	hsa-miR-130a	CLIP-seq
MIRT2365241	hsa-miR-130b	CLIP-seq
MIRT1481599	hsa-miR-138	CLIP-seq
MIRT2365242	hsa-miR-151-5p	CLIP-seq
MIRT2365243	hsa-miR-151b	CLIP-seq
MIRT2365244	hsa-miR-15a	CLIP-seq
MIRT2365245	hsa-miR-15b	CLIP-seq
MIRT2365246	hsa-miR-16	CLIP-seq
MIRT2365247	hsa-miR-193a-5p	CLIP-seq
MIRT2365248	hsa-miR-195	CLIP-seq
MIRT2365249	hsa-miR-19a	CLIP-seq
MIRT2365250	hsa-miR-19b	CLIP-seq
MIRT2365251	hsa-miR-205	CLIP-seq
MIRT2365252	hsa-miR-2355-5p	CLIP-seq
MIRT2365253	hsa-miR-2467-3p	CLIP-seq
MIRT2365254	hsa-miR-301a	CLIP-seq
MIRT2365255	hsa-miR-301b	CLIP-seq
MIRT2365256	hsa-miR-3122	CLIP-seq
MIRT2365257	hsa-miR-3125	CLIP-seq
MIRT2365258	hsa-miR-3126-5p	CLIP-seq
MIRT2365259	hsa-miR-3127-3p	CLIP-seq
MIRT2365260	hsa-miR-3131	CLIP-seq
MIRT1481601	hsa-miR-3151	CLIP-seq
MIRT2365261	hsa-miR-323-5p	CLIP-seq
MIRT2365262	hsa-miR-324-5p	CLIP-seq
MIRT2365263	hsa-miR-3618	CLIP-seq
MIRT2365264	hsa-miR-3646	CLIP-seq
MIRT2365265	hsa-miR-3666	CLIP-seq
MIRT2365266	hsa-miR-3691-5p	CLIP-seq
MIRT2365267	hsa-miR-3913-5p	CLIP-seq
MIRT2365268	hsa-miR-3916	CLIP-seq
MIRT2365269	hsa-miR-3928	CLIP-seq
MIRT2365270	hsa-miR-424	CLIP-seq
MIRT2365271	hsa-miR-4255	CLIP-seq
MIRT2365272	hsa-miR-4260	CLIP-seq
MIRT1481608	hsa-miR-4283	CLIP-seq
MIRT2365273	hsa-miR-4295	CLIP-seq
MIRT2365274	hsa-miR-4298	CLIP-seq
MIRT2365275	hsa-miR-4310	CLIP-seq
MIRT2144886	hsa-miR-4311	CLIP-seq
MIRT2365276	hsa-miR-4419a	CLIP-seq
MIRT2365277	hsa-miR-4448	CLIP-seq
MIRT1481614	hsa-miR-4456	CLIP-seq
MIRT2365278	hsa-miR-4476	CLIP-seq
MIRT2365279	hsa-miR-4483	CLIP-seq
MIRT1481615	hsa-miR-4489	CLIP-seq
MIRT2365280	hsa-miR-4491	CLIP-seq
MIRT1481616	hsa-miR-4492	CLIP-seq
MIRT1481617	hsa-miR-4498	CLIP-seq
MIRT2365281	hsa-miR-4510	CLIP-seq
MIRT1481618	hsa-miR-4514	CLIP-seq
MIRT2365282	hsa-miR-4533	CLIP-seq
MIRT2365283	hsa-miR-454	CLIP-seq
MIRT2365284	hsa-miR-4645-5p	CLIP-seq
MIRT2365285	hsa-miR-4657	CLIP-seq
MIRT2365286	hsa-miR-4673	CLIP-seq
MIRT1481620	hsa-miR-4692	CLIP-seq
MIRT2365287	hsa-miR-4700-3p	CLIP-seq
MIRT2365288	hsa-miR-4717-3p	CLIP-seq
MIRT2365289	hsa-miR-4752	CLIP-seq
MIRT1481624	hsa-miR-4761-5p	CLIP-seq
MIRT2365290	hsa-miR-4768-3p	CLIP-seq
MIRT2365291	hsa-miR-4797-5p	CLIP-seq
MIRT2365292	hsa-miR-4800-5p	CLIP-seq
MIRT2365293	hsa-miR-497	CLIP-seq
MIRT1481628	hsa-miR-518a-5p	CLIP-seq
MIRT1481629	hsa-miR-527	CLIP-seq
MIRT1481630	hsa-miR-541	CLIP-seq
MIRT2365294	hsa-miR-564	CLIP-seq
MIRT2365295	hsa-miR-570	CLIP-seq
MIRT2365296	hsa-miR-611	CLIP-seq
MIRT2365297	hsa-miR-617	CLIP-seq
MIRT2365298	hsa-miR-642b	CLIP-seq
MIRT1481634	hsa-miR-654-5p	CLIP-seq
MIRT1481635	hsa-miR-665	CLIP-seq
MIRT2365299	hsa-miR-759	CLIP-seq
MIRT1481636	hsa-miR-762	CLIP-seq
MIRT2365300	hsa-miR-873	CLIP-seq
MIRT2365301	hsa-miR-876-3p	CLIP-seq
MIRT2365302	hsa-miR-891a	CLIP-seq
MIRT2365303	hsa-miR-9	CLIP-seq
MIRT1481639	hsa-miR-940	CLIP-seq
MIRT2365304	hsa-miR-942	CLIP-seq
MIRT2659028	hsa-miR-128	CLIP-seq
MIRT2365239	hsa-miR-1302	CLIP-seq
MIRT2365242	hsa-miR-151-5p	CLIP-seq
MIRT2365243	hsa-miR-151b	CLIP-seq
MIRT2659029	hsa-miR-184	CLIP-seq
MIRT2659030	hsa-miR-1914	CLIP-seq
MIRT2659031	hsa-miR-299-3p	CLIP-seq
MIRT2365256	hsa-miR-3122	CLIP-seq
MIRT2365260	hsa-miR-3131	CLIP-seq
MIRT2659032	hsa-miR-3158-3p	CLIP-seq
MIRT2659033	hsa-miR-3192	CLIP-seq
MIRT2365261	hsa-miR-323-5p	CLIP-seq
MIRT2659034	hsa-miR-3689a-5p	CLIP-seq
MIRT2659035	hsa-miR-3689b	CLIP-seq
MIRT2659036	hsa-miR-3689e	CLIP-seq
MIRT2659037	hsa-miR-3689f	CLIP-seq
MIRT2365267	hsa-miR-3913-5p	CLIP-seq
MIRT2659038	hsa-miR-4261	CLIP-seq
MIRT2365274	hsa-miR-4298	CLIP-seq
MIRT2659039	hsa-miR-4446-3p	CLIP-seq
MIRT2659040	hsa-miR-4470	CLIP-seq
MIRT1481616	hsa-miR-4492	CLIP-seq
MIRT1481617	hsa-miR-4498	CLIP-seq
MIRT2659041	hsa-miR-4505	CLIP-seq
MIRT2365284	hsa-miR-4645-5p	CLIP-seq
MIRT2659042	hsa-miR-4648	CLIP-seq
MIRT2659043	hsa-miR-4654	CLIP-seq
MIRT2365286	hsa-miR-4673	CLIP-seq
MIRT2659044	hsa-miR-4679	CLIP-seq
MIRT2659045	hsa-miR-4747-5p	CLIP-seq
MIRT2659046	hsa-miR-4764-5p	CLIP-seq
MIRT2659047	hsa-miR-4769-5p	CLIP-seq
MIRT2659048	hsa-miR-579	CLIP-seq
MIRT2365296	hsa-miR-611	CLIP-seq
MIRT2365298	hsa-miR-642b	CLIP-seq
MIRT1481636	hsa-miR-762	CLIP-seq
MIRT2365301	hsa-miR-876-3p	CLIP-seq
MIRT2659028	hsa-miR-128	CLIP-seq
MIRT2659029	hsa-miR-184	CLIP-seq
MIRT2659030	hsa-miR-1914	CLIP-seq
MIRT2659031	hsa-miR-299-3p	CLIP-seq
MIRT2659032	hsa-miR-3158-3p	CLIP-seq
MIRT2659033	hsa-miR-3192	CLIP-seq
MIRT2659034	hsa-miR-3689a-5p	CLIP-seq
MIRT2659035	hsa-miR-3689b	CLIP-seq
MIRT2659036	hsa-miR-3689e	CLIP-seq
MIRT2659037	hsa-miR-3689f	CLIP-seq
MIRT2659038	hsa-miR-4261	CLIP-seq
MIRT2659039	hsa-miR-4446-3p	CLIP-seq
MIRT2659040	hsa-miR-4470	CLIP-seq
MIRT1481616	hsa-miR-4492	CLIP-seq
MIRT1481617	hsa-miR-4498	CLIP-seq
MIRT2659041	hsa-miR-4505	CLIP-seq
MIRT2659042	hsa-miR-4648	CLIP-seq
MIRT2659043	hsa-miR-4654	CLIP-seq
MIRT2659044	hsa-miR-4679	CLIP-seq
MIRT2659045	hsa-miR-4747-5p	CLIP-seq
MIRT2659046	hsa-miR-4764-5p	CLIP-seq
MIRT2659047	hsa-miR-4769-5p	CLIP-seq
MIRT1481636	hsa-miR-762	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005484	Function	SNAP receptor activity	IBA
GO:0005515	Function	Protein binding	IPI	9920726, 25416956, 32296183, 32814053
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005829	Component	Cytosol	IDA	11391393
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS	1976629
GO:0006906	Process	Vesicle fusion	IBA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0019905	Function	Syntaxin binding	IBA
GO:0030133	Component	Transport vesicle	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	TAS
GO:0031201	Component	SNARE complex	IBA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0035493	Process	SNARE complex assembly	IBA
GO:0035577	Component	Azurophil granule membrane	IDA	11391393
GO:0035579	Component	Specific granule membrane	IDA	11391393
GO:0043005	Component	Neuron projection	IEA
GO:0045202	Component	Synapse	IEA
GO:0070821	Component	Tertiary granule membrane	IDA	11391393

MIM	HGNC	e!Ensembl
185880	12642	ENSG00000139190

P23763

Protein name

Vesicle-associated membrane protein 1 (VAMP-1) (Synaptobrevin-1)

Protein function

Involved in the targeting and/or fusion of transport vesicles to their target membrane.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00957	Synaptobrevin	30 → 118	Synaptobrevin	Family

Tissue specificity

TISSUE SPECIFICITY: Nervous system, skeletal muscle and adipose tissue.

Sequence

MSAPAQPPAEGTEGTAPGGGPPGPPPNMTSNRRLQQTQAQVEEVVDIIRVNVDKVLERDQ
KLSELDDRADALQAGASQFESSAAKLKRKYWWKNCKMMIMLGAICAIIVVVIVIYFFT

Sequence length

118

Interactions

View interactions

	KEGG		Reactome
	SNARE interactions in vesicular transport		Toxicity of botulinum toxin type D (BoNT/D) Toxicity of botulinum toxin type F (BoNT/F) Toxicity of botulinum toxin type G (BoNT/G)

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

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Houge-Janssens syndrome 2	Likely pathogenic	rs1565527137	RCV005861168	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myasthenic syndrome, congenital, 25, presynaptic	Pathogenic; Likely pathogenic	rs878854975, rs746220436, rs1565527239, rs1565527137, rs1565527140	RCV005008203 RCV000757907 RCV000757908 RCV000757910 RCV000757911	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic ataxia 1	Likely pathogenic; Pathogenic	rs1308616721, rs878854975, rs2540072817, rs746220436	RCV005409856 RCV000128446 RCV003320009 RCV002279727	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Pathogenic; Likely pathogenic	rs1311863343, rs1308616721, rs878854975, rs746220436	RCV001958880 RCV001982906 RCV002571516 RCV000233592 RCV001855899	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VAMP1-related disorder	Likely pathogenic; Pathogenic	rs746220436	RCV004579562	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SPASTIC ATAXIA TYPE 1	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGEN MYASTHENIC SYNDROMES PRESYNAPTIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myasthenic syndrome	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (53)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18457912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	25881291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	22958904	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT	Ataxia	ORPHANET_DG	22958904		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT	Ataxia	GENOMICS_ENGLAND_DG	22958904, 27957547		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT	Ataxia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT	Ataxia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant spastic ataxia type 1	Spastic Ataxia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	28194325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28194325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulbar palsy	Bulbar palsy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	39871215	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Dysplasia Of The Hip	Developmental dysplasia of the hip	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Presynaptic	Myasthenic Syndrome	ORPHANET_DG	28253535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28194325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	28168212, 28253535		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	28253535		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22958904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	22958904	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	LHGDN	18457912		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Presynaptic congenital myasthenic syndromes	Myasthenic Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21145444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Central	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic Ataxia	BEFREE	22958904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	22958904		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sudden episodic apnea	Sudden episodic apnea	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

VAMP1 (vesicle associated membrane protein 1)