VAMP1 (vesicle associated membrane protein 1)

Gene

• Entrez ID: 6843
• Gene name: Vesicle associated membrane protein 1
• Gene symbol: VAMP1
• Synonyms (NCBI Gene): CMS25, SAX1, SPAX1, SYB1, VAMP-1
• Disease Acronyms (UniProt): CMS25, SPAX1
• 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

miRNA

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 assay, Western blotting, qRT-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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005484	Function	SNAP receptor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	9920726, 25416956
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005829	Component	Cytosol	IDA	11391393
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	TAS	1976629
GO:0006906	Process	Vesicle fusion	IBA	21873635
GO:0019905	Function	Syntaxin binding	IBA	21873635
GO:0030285	Component	Integral component of synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	TAS
GO:0031201	Component	SNARE complex	IBA	21873635
GO:0035493	Process	SNARE complex assembly	IBA	21873635
GO:0035577	Component	Azurophil granule membrane	IDA	11391393
GO:0035579	Component	Specific granule membrane	IDA	11391393
GO:0043005	Component	Neuron projection	IEA
GO:0070821	Component	Tertiary granule membrane	IDA	11391393

Other IDs

• MIM: 185880
• HGNC: 12642
• e!Ensembl: ENSG00000139190

Protein

• UniProt ID: 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

Pathways

KEGG:

SNARE interactions in vesicular transport

Reactome:

Toxicity of botulinum toxin type D (BoNT/D)
Toxicity of botulinum toxin type F (BoNT/F)
Toxicity of botulinum toxin type G (BoNT/G)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Arthrogryposis multiplex congenita	Arthrogryposis	rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835, rs758105619, rs886041851, rs794727136, rs755239192, rs760715690, rs773952935, rs112610938, rs1057516676, rs1057516996, rs780022652, rs1057517399, rs1057517360, rs1057518353, rs1057517977, rs1064796311, rs779232987, rs775997446, rs1064797093, rs1064797094, rs1064797095, rs755500591, rs754272530, rs758247804, rs200731870, rs747179265, rs1553740233, rs776569219, rs375628303, rs775631800, rs781667543, rs1553548666, rs928945364, rs763364977, rs1458048713, rs1553883480, rs1472403020, rs1336053002, rs202048855, rs1197561990, rs755531536, rs1554112524, rs762133567, rs1553555882, rs934111355, rs1255744452, rs1366269616, rs1555734932, rs1553548207, rs752582527, rs1257495033, rs113525641, rs755863625, rs374929094, rs539819851, rs1366853918, rs1218073575, rs1553537512, rs1553552384, rs747564597, rs776059611, rs756726488, rs1357811155, rs1553939600, rs772009599, rs1255445731, rs1011425121, rs1553561697, rs1553551748, rs1553552413, rs760935667, rs1553603400, rs1302373559, rs1389892619, rs1553710982, rs757157808, rs1180339426, rs761964375, rs1235589246, rs1443738549, rs1553934586, rs1553934597, rs1553603437, rs749452641, rs1553904694, rs754369875, rs112517981, rs774495973, rs1428597732, rs746999970, rs113091511, rs1553603958, rs1553469502, rs770797137, rs1553608621, rs1159756073, rs776167256, rs778593702, rs1553601066, rs1553689774, rs760768475, rs1559296376, rs201636991, rs1559039815, rs748922882, rs772366030, rs1207534366, rs1259297878, rs762780413, rs1559360386, rs1559940778, rs760200697, rs1344099907, rs750900690, rs1559168230, rs746177326, rs761067911, rs1323364980, rs537560378, rs1319778592, rs1340063197, rs1577833924, rs750585238, rs1600470099, rs1575714905, rs1576203853, rs779909544, rs760124743, rs2096362304, rs1212374733, rs1490309743, rs767709270, rs1374971806, rs2096491549, rs2097886912, rs2099021112, rs2097758221, rs1474341248, rs925947627
Ataxia	ATAXIA, SPASTIC, 1, AUTOSOMAL DOMINANT	rs606231134, rs119103243, rs119103244, rs119103245, rs606231135, rs119468005, rs119468006, rs387906298, rs606231138, rs606231139, rs119468008, rs387906299, rs606231292, rs1553281318, rs794727986, rs1563130387, rs797045109, rs797045217, rs578189699, rs797046025, rs797046024, rs797046026, rs764847439, rs780451185, rs863224929, rs771578775, rs755933881, rs199874519, rs1085307053, rs886042265, rs201908721, rs747150601, rs1057519343, rs752130338, rs748118737, rs781518112, rs140246430, rs1554553667, rs1554573328, rs1554676394, rs1554753528, rs1203553546, rs1554829141, rs974677376, rs763325410, rs1554721227, rs1554226673, rs1554768245, rs1553280621, rs755531859, rs765966679, rs1554247806, rs750544827, rs768958602, rs1563941569, rs1564136499, rs1269308421, rs767584322, rs751637699, rs759460806, rs1271428051, rs752224921, rs1572040505, rs767406263, rs1590463470, rs771955377, rs1659738028	27957547, 22958904
Myasthenic syndrome	Congenital Myasthenic Syndromes, Presynaptic, Presynaptic congenital myasthenic syndromes, Myasthenic Syndromes, Congenital	rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922, rs769982050, rs759911990, rs121908923, rs121908924, rs1384843815, rs104893735, rs104894299, rs104894300, rs786200904, rs104894301, rs786200905, rs104894294, rs121909254, rs121909255, rs879255561, rs121912821, rs75466054, rs121912822, rs199476396, rs121909510, rs121909511, rs121909514, rs121909512, rs121909513, rs879255562, rs879253722, rs879253723, rs28999110, rs886037628, rs753828284, rs121909515, rs121909516, rs121909517, rs879255563, rs121909502, rs121909503, rs121909504, rs879255564, rs121909505, rs121909508, rs137852810, rs137852811, rs137852798, rs137852800, rs137852801, rs137852802, rs137852804, rs137852805, rs137852806, rs137852807, rs137852808, rs2105350984, rs374391312, rs201322234, rs1671535986, rs1574066341, rs1574058076, rs1574066599, rs387906803, rs387907243, rs376039938, rs397515321, rs387907244, rs387907245, rs377767449, rs193919341, rs398122830, rs397515450, rs587777298, rs587777299, rs587777781, rs730882050, rs730882123, rs730882051, rs786204773, rs786205885, rs794727884, rs761899995, rs797045040, rs797045528, rs200783529, rs551423795, rs756877019, rs864309662, rs864309663, rs756623659, rs773526895, rs763258280, rs762368691, rs1555794286, rs886037842, rs147656110, rs886039767, rs886039768, rs770045897, rs763281993, rs755236236, rs886043239, rs764497513, rs1057517666, rs370019023, rs769114543, rs922548333, rs139574075, rs767507908, rs759226183, rs1057523690, rs55868108, rs755303686, rs1085307792, rs775583136, rs376808313, rs1131691986, rs776927709, rs1279554995, rs1553850100, rs1156634884, rs1553390600, rs1349476281, rs1555546465, rs199875082, rs200761047, rs1553360075, rs971863968, rs369251527, rs372760913, rs1479498379, rs1555547003, rs1423995073, rs1555546315, rs1555546765, rs201033437, rs1430654625, rs1554943789, rs1316112168, rs781689096, rs1553354962, rs753545038, rs1011196447, rs1553389102, rs185829251, rs28929768, rs1555546096, rs932032926, rs1553846331, rs756015202, rs1555142142, rs1436090495, rs1553352792, rs145356495, rs770987150, rs768892432, rs1557700705, rs1172015222, rs1558749457, rs1361739547, rs775517492, rs1558773839, rs1559510978, rs771879602, rs777102590, rs1567635954, rs1407243713, rs1567638401, rs756675414, rs781908532, rs1306593300, rs1559519107, rs199470447, rs1557721600, rs1558762013, rs746220436, rs1565527239, rs1565527137, rs1565527140, rs1567636493, rs1558761046, rs143766249, rs1447564693, rs757060689, rs1309292778, rs1575460231, rs1570193864, rs1570195582, rs1239736447, rs779488471, rs201947904, rs1597612665, rs1597613302, rs781774131, rs760022829, rs1597619440, rs1597621353, rs1187421976, rs977512223, rs1239393228, rs762875734, rs148092524, rs1269227357, rs1208462125, rs1597622118, rs1597749210, rs1570190059, rs1574007436, rs781974501, rs748639083, rs1597613479, rs1597621396, rs1570242061, rs149020371, rs1595903667, rs1597618787, rs1600807788, rs1579484850, rs1577153029, rs779816027, rs1598406692, rs1577153124, rs778172294, rs1590576560, rs753652169, rs1595902947, rs1369980189, rs762345055, rs1675812434, rs375268742, rs1671813157, rs759488854, rs761584017, rs1969834618, rs1969839736, rs1255916068, rs1597618854, rs1969973509, rs1908994498, rs1320610655, rs373710822	28253535
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Myasthenia gravis	Myasthenias	rs5030818, rs121912815, rs121912817, rs121912818, rs121912821, rs75466054, rs121912822, rs121912823, rs794727516, rs764497513, rs376808313, rs1279554995, rs1554802792, rs369251527, rs372760913, rs1554802808, rs769234940, rs201439531, rs1272947184, rs757303526, rs760936252, rs1590576560, rs1838635262
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Polyneuropathy	Polyneuropathy, Motor	rs1597597437
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spastic ataxia	Spastic Ataxia, Autosomal dominant spastic ataxia type 1	rs72555372, rs74315473, rs281865117, rs281865118, rs137853016, rs2137634136, rs137853017, rs606231163, rs137853018, rs137853019, rs2137724246, rs2137716138, rs267606900, rs387906889, rs281865120, rs397509404, rs386833661, rs386834157, rs1553608221, rs587777197, rs587777198, rs886041035, rs199474695, rs199474696, rs727502823, rs727503785, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs753962912, rs143441644, rs786205598, rs797045936, rs780247476, rs797045937, rs797044608, rs752623413, rs876657721, rs876657720, rs878854975, rs1131690773, rs752059006, rs202199411, rs886041949, rs757872635, rs1057517123, rs747868017, rs1057517294, rs1057516347, rs1057517232, rs565203731, rs753205260, rs1057516398, rs1057516856, rs756597098, rs1057516578, rs1057516773, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517383, rs1057516464, rs1057517349, rs1057516875, rs1057517060, rs765992922, rs1057516853, rs1057517020, rs753012964, rs1057517212, rs1057517014, rs758572409, rs1057516959, rs1057516438, rs1057517451, rs747676277, rs145766983, rs1057516689, rs1057517222, rs1057517301, rs1057516932, rs1057516635, rs1057516295, rs1057517366, rs1057517099, rs759166250, rs1057517138, rs761089024, rs1057517172, rs1057517297, rs1057517311, rs1057517305, rs1057516580, rs1057516285, rs780197970, rs1057516294, rs1057516930, rs1057516779, rs1057516222, rs1057517039, rs1057516551, rs1057516767, rs766457071, rs1057517034, rs1057516624, rs1057516829, rs1057517437, rs1057517285, rs1057516554, rs1057516224, rs1057516543, rs1057516406, rs1057516365, rs1057516625, rs1057516987, rs1057517242, rs1057516820, rs1057516837, rs771943685, rs764254189, rs747779231, rs1060499656, rs371019314, rs1060503431, rs774906736, rs1064796693, rs1555251539, rs754439135, rs767871841, rs867249938, rs1440541889, rs776825296, rs1156566314, rs1160357920, rs773182375, rs1372213267, rs374128662, rs1360298758, rs1555250160, rs1555252345, rs923921184, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555249662, rs1555249977, rs1555250016, rs1555250183, rs1555250191, rs1555250642, rs1555250949, rs1555251301, rs1555251553, rs201690040, rs1214399996, rs1555251905, rs1408290451, rs1555251935, rs1555252349, rs1555252359, rs1555252388, rs1555252448, rs1555252465, rs1555252518, rs1555252545, rs959856535, rs1555252611, rs1555252634, rs1167474602, rs1175545518, rs1417057515, rs1555249338, rs1555249460, rs1555249599, rs1555249633, rs1555249648, rs1555249745, rs1555249789, rs1555249797, rs1555249878, rs1400601705, rs1555249966, rs1555250383, rs1555250987, rs1555251007, rs1555251428, rs1555251514, rs1555251840, rs1555251853, rs1555251990, rs1555252086, rs1555252458, rs1555252531, rs1555252786, rs1555252844, rs1555252876, rs1555252928, rs745961541, rs1555252929, rs745907077, rs753277514, rs1555254489, rs1555249326, rs1555249371, rs1555249695, rs1555249766, rs1555249826, rs1555249881, rs1555249894, rs1555249904, rs1555250022, rs1555250082, rs1555250508, rs1555250557, rs1555250684, rs1555250872, rs1279988199, rs1555251241, rs1555251254, rs1028098148, rs140034972, rs1555251421, rs1555251699, rs766711286, rs1555251944, rs1555251960, rs1555252113, rs1555252142, rs1485885260, rs1555252184, rs1459899547, rs1555252926, rs1555252944, rs1555254734, rs1555249607, rs1555250255, rs1555250359, rs1555250395, rs1555250653, rs1555250991, rs1555251015, rs1240368715, rs1555251151, rs1555251615, rs1555251818, rs1555251963, rs1485209013, rs1555252055, rs1188844823, rs1555252148, rs1555252587, rs1555252623, rs144267558, rs142037771, rs1555252953, rs1555254439, rs1555251822, rs1555255676, rs1567721108, rs1006060877, rs746220436, rs1566069517, rs1310569366, rs751568153, rs1181477970, rs1593129673, rs1593133395, rs994374354, rs1593121924, rs770490672, rs1593133306, rs1593121484, rs780184251, rs1581504953, rs1131040, rs1581505917, rs1593145590, rs1326359185, rs543422544, rs1593123432, rs772704931, rs753958013, rs927804920, rs1883405453, rs1868872666, rs769212398, rs757179309, rs772475828
Spastic paraplegia	Spastic Paraplegia	rs118204049, rs121918262, rs104894490, rs119476046, rs281865117, rs281865118, rs137853017, rs72554620, rs121908610, rs121908611, rs121908613, rs116171274, rs121434442, rs121434443, rs137852520, rs137852521, rs137852524, rs137852525, rs879253716, rs387906970, rs587776888, rs759947457, rs587776891, rs753426920, rs387907057, rs397514478, rs387907285, rs387907287, rs387907288, rs281865120, rs397514513, rs141431913, rs312262755, rs398123013, rs398123014, rs398122382, rs745744124, rs483352924, rs483352925, rs587777222, rs587779388, rs587783179, rs587783772, rs587784383, rs587784384, rs730882249, rs762947018, rs786204628, rs141315518, rs786204416, rs786204750, rs770866403, rs775059063, rs797044787, rs794729214, rs794729215, rs797045050, rs370828455, rs146262009, rs797045244, rs780247476, rs185246578, rs766773277, rs863224494, rs752669339, rs869320690, rs200737038, rs869312914, rs752283089, rs751713917, rs756205995, rs875989787, rs875989845, rs375817528, rs200440467, rs876661295, rs794727501, rs770285398, rs878854745, rs878854975, rs878855013, rs878855011, rs878855083, rs878853979, rs879255397, rs879255396, rs886039410, rs886039409, rs886039407, rs886039408, rs886039405, rs886039406, rs752598529, rs752059006, rs202199411, rs886041949, rs886041127, rs886042238, rs1057517123, rs747868017, rs1057517294, rs565203731, rs753205260, rs1057517002, rs779338945, rs755186798, rs1057517250, rs1057517060, rs753012964, rs758572409, rs1057516959, rs1057516438, rs145766983, rs1057516689, rs1057516932, rs1057516635, rs1057517366, rs759166250, rs1057517138, rs761089024, rs1057517297, rs1057517311, rs1057516779, rs1057517039, rs1057517285, rs1057516365, rs1057516625, rs1057516987, rs1057516837, rs1057518016, rs1057518880, rs1057518697, rs1057519289, rs1057519290, rs1057519291, rs1057519292, rs1057519293, rs1057521784, rs1060499756, rs1060499771, rs1060502224, rs1060502523, rs371019314, rs1060503431, rs774906736, rs372350326, rs776976178, rs370837940, rs1064793162, rs1064793920, rs1555177629, rs1555394376, rs377445018, rs767024102, rs768176054, rs1557090943, rs1557090161, rs1555178616, rs1555251539, rs754439135, rs1321353475, rs1555186937, rs767871841, rs867249938, rs1440541889, rs1555456727, rs1268722908, rs1557092247, rs1557092248, rs765632065, rs773246271, rs1554380391, rs1554517327, rs200268523, rs1156566314, rs1160357920, rs773182375, rs768366199, rs774809466, rs1555542889, rs915291720, rs1021034246, rs769676029, rs746979262, rs1033093801, rs955142329, rs760559263, rs1557091773, rs1372213267, rs1557091678, rs1402429085, rs1555179091, rs1555179087, rs374128662, rs142209254, rs1553259463, rs1555254256, rs755820725, rs1335804396, rs568176223, rs1555979596, rs780030221, rs1553314978, rs923921184, rs1556840029, rs374894037, rs1553262438, rs1555249362, rs950356390, rs1557091278, rs1557090220, rs1259615333, rs1555249276, rs1555249425, rs1555249479, rs1555249555, rs1555250949, rs1555252349, rs1167474602, rs1175545518, rs1555249648, rs1555249878, rs1400601705, rs1555252086, rs745907077, rs1555249371, rs1555249904, rs1555393393, rs1028098148, rs766711286, rs767164213, rs1470672632, rs1555252184, rs1224762841, rs769329153, rs1555254734, rs1555397331, rs941230062, rs545219731, rs200832994, rs1555250255, rs1240368715, rs1555393338, rs1049504575, rs1485209013, rs868672014, rs1214483973, rs558285072, rs1555398241, rs1186788102, rs981804211, rs935301743, rs1555251822, rs1555255676, rs369459721, rs772400670, rs1558119445, rs759033144, rs1565705251, rs1566055368, rs1566058677, rs1006060877, rs1448182827, rs1569544908, rs754944359, rs754944429, rs1569544723, rs1569285562, rs367916692, rs1566893090, rs1177577061, rs1566881181, rs1569280986, rs1590847310, rs746220436, rs1569281085, rs529495094, rs1563920268, rs1563920252, rs1563920172, rs1563919973, rs1563920000, rs1563920132, rs751568153, rs1569274606, rs1455411788, rs1571908452, rs768640920, rs1578729121, rs1585896928, rs1585808059, rs1588001500, rs1011987148, rs1594915468, rs1594925773, rs1361370524, rs1593121507, rs1365858851, rs1593125341, rs1181477970, rs1593129673, rs1593133395, rs1593133714, rs1593144167, rs1593144544, rs1593144887, rs767435985, rs1593147785, rs994374354, rs1593157923, rs1594900921, rs1594906944, rs1594910045, rs1594913346, rs1594930532, rs1594938339, rs140354725, rs1418885000, rs1603275195, rs1603276234, rs1574077569, rs1603275315, rs1587878722, rs1587879449, rs1593133607, rs770490672, rs1602099961, rs778722037, rs756830713, rs1593121484, rs763869212, rs1594912625, rs1597556143, rs778113360, rs377278120, rs933233143, rs1572337800, rs1573072864, rs1593125290, rs1593126754, rs1593123432, rs1571563769, rs1584514057, rs772704931, rs1587878961, rs1802811311, rs1052410160, rs1298132281, rs748480664, rs139015012, rs1340636078, rs927804920, rs1883405453, rs1883566609, rs1868403104, rs1868480299, rs1868481514, rs1868567420, rs1868626730, rs1868628768, rs1868872666, rs1869006331, rs769212398, rs757179309, rs2039098098, rs2039228359, rs774867891, rs2039613696, rs2039616151, rs2039786680, rs2039997721, rs748149642, rs2040215878, rs760484081, rs1204169977, rs367665974, rs201311640, rs1034820850, rs1930458591, rs1882179247, rs2039758874, rs1885117995, rs1805435464

Unknown
Disease term	Disease name	Evidence	References	Source
Distal amyotrophy	Distal amyotrophy			ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Myasthenic Syndrome	myasthenic syndrome, congenital, 25, presynaptic, presynaptic congenital myasthenic syndrome			GenCC
Spastic Ataxia	spastic ataxia 1			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Ataxia	Associate	22958904
Carcinoma Renal Cell	Associate	39871215
Neurologic Manifestations	Associate	22958904
Paraplegia	Associate	22958904
Spinocerebellar Degenerations	Associate	22958904