REEP1 (receptor accessory protein 1)

Gene

• Entrez ID: 65055
• Gene name: Receptor accessory protein 1
• Gene symbol: REEP1
• Synonyms (NCBI Gene): C2orf23, DSMA6, HMN5B, HMND12, HMNR6, SPG31, Yip2a
• Disease Acronyms (UniProt): HMND12, HMNR6, SPG31
• Chromosome: 2
• Chromosome location: 2p11.2
• Summary: This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918262	G>A,T	Pathogenic	Intron variant, 5 prime UTR variant, coding sequence variant, missense variant
rs121918263	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs139808535	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, intron variant
rs144874997	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, intron variant
rs189652973	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant, coding sequence variant, missense variant
rs387906263	G>-,GG	Pathogenic-likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs387906264	T>C	Pathogenic	Intron variant, splice acceptor variant
rs387907242	T>C	Uncertain-significance, pathogenic	Intron variant, splice acceptor variant
rs587781248	T>C	Pathogenic, uncertain-significance	Stop lost, missense variant, terminator codon variant, coding sequence variant
rs786204081	T>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs869312880	C>T	Pathogenic	Splice donor variant, intron variant
rs879254031	G>A,C	Likely-pathogenic	Coding sequence variant, stop gained, synonymous variant, intron variant
rs1060503494	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1060503496	G>C	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, intron variant
rs1064792986	GTGTTTGCCGCTGGCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1064797257	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1266102026	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, intron variant
rs1558875298	A>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1558898568	C>T	Pathogenic	Stop gained, coding sequence variant
rs1574005451	G>-	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1574077569	T>C	Likely-pathogenic	Splice acceptor variant, intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024594	hsa-miR-215-5p	Microarray	19074876
MIRT026266	hsa-miR-192-5p	Microarray	19074876
MIRT636031	hsa-miR-33a-5p	HITS-CLIP	23824327
MIRT636030	hsa-miR-33b-5p	HITS-CLIP	23824327
MIRT303893	hsa-miR-507	HITS-CLIP	23824327
MIRT303894	hsa-miR-557	HITS-CLIP	23824327
MIRT636029	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT636028	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT636031	hsa-miR-33a-5p	HITS-CLIP	23824327
MIRT636030	hsa-miR-33b-5p	HITS-CLIP	23824327
MIRT303893	hsa-miR-507	HITS-CLIP	23824327
MIRT303894	hsa-miR-557	HITS-CLIP	23824327
MIRT636029	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT636028	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT636028	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT636028	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT636028	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT636028	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT636031	hsa-miR-33a-5p	HITS-CLIP	27418678
MIRT636031	hsa-miR-33a-5p	HITS-CLIP	27418678
MIRT636031	hsa-miR-33a-5p	HITS-CLIP	27418678
MIRT636031	hsa-miR-33a-5p	HITS-CLIP	27418678
MIRT636030	hsa-miR-33b-5p	HITS-CLIP	27418678
MIRT636030	hsa-miR-33b-5p	HITS-CLIP	27418678
MIRT636030	hsa-miR-33b-5p	HITS-CLIP	27418678
MIRT636030	hsa-miR-33b-5p	HITS-CLIP	27418678
MIRT636029	hsa-miR-3680-3p	HITS-CLIP	27418678
MIRT636029	hsa-miR-3680-3p	HITS-CLIP	27418678
MIRT636029	hsa-miR-3680-3p	HITS-CLIP	27418678
MIRT636029	hsa-miR-3680-3p	HITS-CLIP	27418678
MIRT303893	hsa-miR-507	HITS-CLIP	27418678
MIRT303893	hsa-miR-507	HITS-CLIP	27418678
MIRT303893	hsa-miR-507	HITS-CLIP	27418678
MIRT303893	hsa-miR-507	HITS-CLIP	27418678
MIRT303894	hsa-miR-557	HITS-CLIP	27418678
MIRT303894	hsa-miR-557	HITS-CLIP	27418678
MIRT303894	hsa-miR-557	HITS-CLIP	27418678
MIRT303894	hsa-miR-557	HITS-CLIP	27418678
MIRT636031	hsa-miR-33a-5p	HITS-CLIP	23824327
MIRT636030	hsa-miR-33b-5p	HITS-CLIP	23824327
MIRT303893	hsa-miR-507	HITS-CLIP	23824327
MIRT303894	hsa-miR-557	HITS-CLIP	23824327
MIRT636029	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT636028	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT636031	hsa-miR-33a-5p	HITS-CLIP	23824327
MIRT636030	hsa-miR-33b-5p	HITS-CLIP	23824327
MIRT303893	hsa-miR-507	HITS-CLIP	23824327
MIRT303894	hsa-miR-557	HITS-CLIP	23824327
MIRT636029	hsa-miR-3680-3p	HITS-CLIP	23824327
MIRT636028	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT1299326	hsa-miR-103a	CLIP-seq
MIRT1299327	hsa-miR-107	CLIP-seq
MIRT1299328	hsa-miR-1183	CLIP-seq
MIRT1299329	hsa-miR-1251	CLIP-seq
MIRT1299330	hsa-miR-1285	CLIP-seq
MIRT1299331	hsa-miR-141	CLIP-seq
MIRT1299332	hsa-miR-15a	CLIP-seq
MIRT1299333	hsa-miR-15b	CLIP-seq
MIRT1299334	hsa-miR-16	CLIP-seq
MIRT1299335	hsa-miR-188-5p	CLIP-seq
MIRT1299336	hsa-miR-195	CLIP-seq
MIRT1299337	hsa-miR-200a	CLIP-seq
MIRT1299338	hsa-miR-204	CLIP-seq
MIRT1299339	hsa-miR-211	CLIP-seq
MIRT1299340	hsa-miR-214	CLIP-seq
MIRT1299341	hsa-miR-3168	CLIP-seq
MIRT1299342	hsa-miR-3182	CLIP-seq
MIRT1299343	hsa-miR-3187-5p	CLIP-seq
MIRT1299344	hsa-miR-3609	CLIP-seq
MIRT1299345	hsa-miR-3619-5p	CLIP-seq
MIRT1299346	hsa-miR-377	CLIP-seq
MIRT1299347	hsa-miR-378g	CLIP-seq
MIRT1299348	hsa-miR-410	CLIP-seq
MIRT1299349	hsa-miR-424	CLIP-seq
MIRT1299350	hsa-miR-4263	CLIP-seq
MIRT1299351	hsa-miR-4291	CLIP-seq
MIRT1299352	hsa-miR-4314	CLIP-seq
MIRT1299353	hsa-miR-4459	CLIP-seq
MIRT1299354	hsa-miR-4486	CLIP-seq
MIRT1299355	hsa-miR-4522	CLIP-seq
MIRT1299356	hsa-miR-4645-3p	CLIP-seq
MIRT1299357	hsa-miR-4684-5p	CLIP-seq
MIRT1299358	hsa-miR-4753-3p	CLIP-seq
MIRT1299359	hsa-miR-4753-5p	CLIP-seq
MIRT1299360	hsa-miR-4775	CLIP-seq
MIRT1299361	hsa-miR-4779	CLIP-seq
MIRT1299362	hsa-miR-4799-5p	CLIP-seq
MIRT1299363	hsa-miR-497	CLIP-seq
MIRT1299364	hsa-miR-520d-5p	CLIP-seq
MIRT1299365	hsa-miR-520g	CLIP-seq
MIRT1299366	hsa-miR-520h	CLIP-seq
MIRT1299367	hsa-miR-524-5p	CLIP-seq
MIRT1299368	hsa-miR-545	CLIP-seq
MIRT1299369	hsa-miR-548ah	CLIP-seq
MIRT1299370	hsa-miR-554	CLIP-seq
MIRT1299371	hsa-miR-576-5p	CLIP-seq
MIRT1299372	hsa-miR-590-3p	CLIP-seq
MIRT1299373	hsa-miR-607	CLIP-seq
MIRT1299374	hsa-miR-612	CLIP-seq
MIRT1299375	hsa-miR-665	CLIP-seq
MIRT1299376	hsa-miR-761	CLIP-seq
MIRT1299377	hsa-miR-922	CLIP-seq
MIRT1299378	hsa-miR-942	CLIP-seq
MIRT1921708	hsa-miR-33a	CLIP-seq
MIRT1921709	hsa-miR-33b	CLIP-seq
MIRT1921708	hsa-miR-33a	CLIP-seq
MIRT1921709	hsa-miR-33b	CLIP-seq
MIRT1921708	hsa-miR-33a	CLIP-seq
MIRT1921709	hsa-miR-33b	CLIP-seq
MIRT1921708	hsa-miR-33a	CLIP-seq
MIRT1921709	hsa-miR-33b	CLIP-seq
MIRT1299329	hsa-miR-1251	CLIP-seq
MIRT1299330	hsa-miR-1285	CLIP-seq
MIRT1299331	hsa-miR-141	CLIP-seq
MIRT1299337	hsa-miR-200a	CLIP-seq
MIRT1299342	hsa-miR-3182	CLIP-seq
MIRT1299343	hsa-miR-3187-5p	CLIP-seq
MIRT2089076	hsa-miR-323-3p	CLIP-seq
MIRT1921708	hsa-miR-33a	CLIP-seq
MIRT1921709	hsa-miR-33b	CLIP-seq
MIRT1299347	hsa-miR-378g	CLIP-seq
MIRT2089077	hsa-miR-3945	CLIP-seq
MIRT2089078	hsa-miR-4253	CLIP-seq
MIRT1299352	hsa-miR-4314	CLIP-seq
MIRT2089079	hsa-miR-4328	CLIP-seq
MIRT1299354	hsa-miR-4486	CLIP-seq
MIRT1299357	hsa-miR-4684-5p	CLIP-seq
MIRT2089080	hsa-miR-4719	CLIP-seq
MIRT2089081	hsa-miR-491-5p	CLIP-seq
MIRT1299364	hsa-miR-520d-5p	CLIP-seq
MIRT1299367	hsa-miR-524-5p	CLIP-seq
MIRT2089082	hsa-miR-548ae	CLIP-seq
MIRT2089083	hsa-miR-548aj	CLIP-seq
MIRT2089084	hsa-miR-548am	CLIP-seq
MIRT2089085	hsa-miR-548x	CLIP-seq
MIRT1299370	hsa-miR-554	CLIP-seq
MIRT2089086	hsa-miR-586	CLIP-seq
MIRT1299374	hsa-miR-612	CLIP-seq
MIRT1299377	hsa-miR-922	CLIP-seq
MIRT2089080	hsa-miR-4719	CLIP-seq
MIRT1299377	hsa-miR-922	CLIP-seq
MIRT2313937	hsa-miR-1202	CLIP-seq
MIRT1299331	hsa-miR-141	CLIP-seq
MIRT1299337	hsa-miR-200a	CLIP-seq
MIRT2313938	hsa-miR-223	CLIP-seq
MIRT2313939	hsa-miR-23a	CLIP-seq
MIRT2313940	hsa-miR-23b	CLIP-seq
MIRT2313941	hsa-miR-23c	CLIP-seq
MIRT2313942	hsa-miR-30a	CLIP-seq
MIRT2313943	hsa-miR-30b	CLIP-seq
MIRT2313944	hsa-miR-30c	CLIP-seq
MIRT2313945	hsa-miR-30d	CLIP-seq
MIRT2313946	hsa-miR-30e	CLIP-seq
MIRT1299341	hsa-miR-3168	CLIP-seq
MIRT2089076	hsa-miR-323-3p	CLIP-seq
MIRT2313947	hsa-miR-3671	CLIP-seq
MIRT2313948	hsa-miR-3972	CLIP-seq
MIRT1299348	hsa-miR-410	CLIP-seq
MIRT2313949	hsa-miR-425	CLIP-seq
MIRT2313950	hsa-miR-4268	CLIP-seq
MIRT2313951	hsa-miR-4277	CLIP-seq
MIRT2313952	hsa-miR-4517	CLIP-seq
MIRT1299356	hsa-miR-4645-3p	CLIP-seq
MIRT2313953	hsa-miR-4697-3p	CLIP-seq
MIRT2313954	hsa-miR-4714-3p	CLIP-seq
MIRT2089080	hsa-miR-4719	CLIP-seq
MIRT2313955	hsa-miR-4731-3p	CLIP-seq
MIRT2313956	hsa-miR-4776-3p	CLIP-seq
MIRT2313957	hsa-miR-4801	CLIP-seq
MIRT2313958	hsa-miR-485-3p	CLIP-seq
MIRT1299368	hsa-miR-545	CLIP-seq
MIRT2089082	hsa-miR-548ae	CLIP-seq
MIRT2089083	hsa-miR-548aj	CLIP-seq
MIRT2089084	hsa-miR-548am	CLIP-seq
MIRT2313959	hsa-miR-548t	CLIP-seq
MIRT2089085	hsa-miR-548x	CLIP-seq
MIRT1299373	hsa-miR-607	CLIP-seq
MIRT2313960	hsa-miR-656	CLIP-seq
MIRT2313961	hsa-miR-759	CLIP-seq
MIRT1299377	hsa-miR-922	CLIP-seq
MIRT1921708	hsa-miR-33a	CLIP-seq
MIRT1921709	hsa-miR-33b	CLIP-seq
MIRT2458014	hsa-miR-338-3p	CLIP-seq
MIRT2458015	hsa-miR-3667-3p	CLIP-seq
MIRT2458016	hsa-miR-4530	CLIP-seq
MIRT2458017	hsa-miR-4660	CLIP-seq
MIRT2458018	hsa-miR-646	CLIP-seq
MIRT2458014	hsa-miR-338-3p	CLIP-seq
MIRT2458015	hsa-miR-3667-3p	CLIP-seq
MIRT2458016	hsa-miR-4530	CLIP-seq
MIRT2458017	hsa-miR-4660	CLIP-seq
MIRT2458018	hsa-miR-646	CLIP-seq
MIRT2458014	hsa-miR-338-3p	CLIP-seq
MIRT2458015	hsa-miR-3667-3p	CLIP-seq
MIRT2458016	hsa-miR-4530	CLIP-seq
MIRT2458017	hsa-miR-4660	CLIP-seq
MIRT2458018	hsa-miR-646	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20200447, 23969831, 32296183
GO:0005737	Component	Cytoplasm	IDA	15550249
GO:0005783	Component	Endoplasmic reticulum	IDA	20200447
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005881	Component	Cytoplasmic microtubule	IBA	21873635
GO:0008017	Function	Microtubule binding	IBA	21873635
GO:0008017	Function	Microtubule binding	IDA	20200447
GO:0016020	Component	Membrane	IBA	21873635
GO:0016020	Component	Membrane	IDA	20200447
GO:0016021	Component	Integral component of membrane	IEA
GO:0031849	Function	Olfactory receptor binding	IBA	21873635
GO:0031849	Function	Olfactory receptor binding	IMP	15550249
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0051205	Process	Protein insertion into membrane	IDA	15550249
GO:0071782	Component	Endoplasmic reticulum tubular network	IBA	21873635
GO:0071782	Component	Endoplasmic reticulum tubular network	ISS
GO:0071786	Process	Endoplasmic reticulum tubular network organization	IBA	21873635
GO:0071786	Process	Endoplasmic reticulum tubular network organization	IMP	20200447

Other IDs

• MIM: 609139
• HGNC: 25786
• e!Ensembl: ENSG00000068615

Protein

• UniProt ID: Q9H902
• Protein name: Receptor expression-enhancing protein 1 (Spastic paraplegia 31 protein)
• Protein function: Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors (PubMed:20200447). May play a role in long-term axonal
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03134	TB2_DP1_HVA22	19 → 95	TB2/DP1, HVA22 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in circumvallate papillae and testis. {ECO:0000269|PubMed:16720576}.
• Sequence:

  MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLC
  WFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRSYDALVH
  FGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASG
  KHGQPKMSRSASESASSSGTA

• Sequence length: 201

Pathways

Reactome:

Olfactory Signaling Pathway

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Atrial fibrillation	Atrial Fibrillation	rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675	30061737
Cardiomyopathy	Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178	22703882
Distal hereditary motor neuronopathy	Distal hereditary motor neuropathy type 5	rs104894345, rs104894351, rs137852970, rs137852972, rs267607143, rs267607145, rs28939680, rs29001571, rs28937568, rs28937569, rs104894020, rs121909112, rs121909113, rs121909342, rs786205090, rs137852644, rs137852646, rs121913595, rs387906904, rs387907242, rs398123028, rs398122838, rs730880031, rs730882139, rs730882140, rs267607623, rs797044802, rs746581714, rs756614404, rs770272088, rs876661124, rs879253868, rs879254085, rs764813110, rs1060502838, rs1064796370, rs1554338260, rs137852973, rs1347223331, rs377626365, rs772217003, rs1553174566, rs1324667543, rs557327165, rs1441260635, rs1565929080, rs770593694, rs1584026191, rs372181708, rs758322672, rs1587668798, rs1587671674, rs972425138, rs1594427564, rs1594445698, rs1594453111, rs1337346956, rs1240319744, rs199839840, rs754422011, rs1595599240, rs1595600898, rs1555408333, rs774079947, rs1584034430, rs562669797, rs749383814, rs762573767, rs767263669, rs746212067, rs1182614290, rs1018405924
Polyneuropathy	Polyneuropathy, Motor	rs1597597437
Spastic paraplegia	Spastic Paraplegia, Spastic Paraplegia, Hereditary, SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT, Autosomal dominant spastic paraplegia type 31	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	28832565, 22703882, 29629531, 26201691, 16826527, 20718791, 24478229, 19034539, 18321925, 21618648, 18644145

Unknown
Disease term	Disease name	Evidence	References	Source
Distal amyotrophy	Distal amyotrophy			ClinVar
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation		30061737	ClinVar
Spastic tetraparesis	Spastic tetraparesis			ClinVar
Spastic Paraplegia	hereditary spastic paraplegia 31			GenCC
Distal Hereditary Motor Neuronopathy	neuronopathy, distal hereditary motor, type 5A			GenCC
Spinal Muscular Atrophy	spinal muscular atrophy, distal, autosomal recessive, 6			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Breast Neoplasms	Associate	30575323
Charcot Marie Tooth Disease	Associate	34193129
Charcot Marie Tooth disease Type 4C	Associate	34193129
Colorectal Neoplasms	Associate	29453334
Multiple Sclerosis	Associate	29908077
Multiple Sclerosis Chronic Progressive	Associate	29908077
Neoplasm Metastasis	Associate	30575323
Neuronopathy Distal Hereditary Motor Type V	Associate	22703882, 34193129
Neuropathy hereditary motor and sensory Russe type	Associate	34193129
Paraplegia	Associate	18321925, 24986827
Peripheral Nervous System Diseases	Associate	18321925
Plaque Amyloid	Associate	34715294
Spastic Paraplegia 31 Autosomal Dominant	Associate	29908077
Spastic Paraplegia Hereditary	Associate	18321925, 18644145, 20718791, 22703882, 23969831, 25421405, 34715294, 34983064, 38479332
Thymoma	Associate	34219124