RTN2 (reticulon 2)

Gene

• Entrez ID: 6253
• Gene name: Reticulon 2
• Gene symbol: RTN2
• Synonyms (NCBI Gene): HMNR11, NSP2, NSPL1, NSPLI, SPG12
• Disease Acronyms (UniProt): HMNR11, SPG12
• Chromosome: 19
• Chromosome location: 19q13.32
• Summary: This gene belongs to the family of reticulon encoding genes. Reticulons are associated with the endoplasmic reticulum, and are involved in neuroendocrine secretion or in membrane trafficking in neuroendocrine cells. Reticulon proteins also play an importa

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs140494585	G>A	Pathogenic	Missense variant, coding sequence variant
rs763387041	->G	Pathogenic	Genic upstream transcript variant, upstream transcript variant, coding sequence variant, frameshift variant
rs768449676	A>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, upstream transcript variant, intron variant
rs1568624823	ATAGCTGTTCC>-	Likely-pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, intron variant, splice acceptor variant
rs1568625691	G>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, upstream transcript variant
rs1599914870	C>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018584	hsa-miR-335-5p	Microarray	18185580
MIRT019899	hsa-miR-375	Microarray	20215506
MIRT050482	hsa-miR-20a-5p	CLASH	23622248
MIRT054871	hsa-miR-125a-5p	qRT-PCR	24675842
MIRT685901	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT685900	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT685899	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT050482	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT685898	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT685897	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT685896	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT685895	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT685894	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT685893	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT685892	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT685891	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT685890	hsa-miR-302e	HITS-CLIP	23313552
MIRT685889	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT685888	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT685887	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT685886	hsa-miR-520b	HITS-CLIP	23313552
MIRT685885	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT685884	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT685883	hsa-miR-520e	HITS-CLIP	23313552
MIRT685882	hsa-miR-4438	HITS-CLIP	23313552
MIRT685881	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT685880	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT685879	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT685878	hsa-miR-520h	HITS-CLIP	23313552
MIRT685877	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT685876	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT685875	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT685874	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT685873	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT685872	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT621267	hsa-miR-4757-5p	HITS-CLIP	23313552
MIRT621265	hsa-miR-6744-3p	HITS-CLIP	23313552
MIRT685871	hsa-miR-5095	HITS-CLIP	23313552
MIRT685870	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT685869	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT621262	hsa-miR-6878-3p	HITS-CLIP	23313552
MIRT685868	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT621272	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT621270	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT621269	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT621268	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT621266	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT650330	hsa-miR-4635	HITS-CLIP	23824327
MIRT650329	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT633999	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT633998	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT650328	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT633997	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT621264	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT650327	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT650326	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT621263	hsa-miR-640	HITS-CLIP	23824327
MIRT650324	hsa-miR-5000-5p	HITS-CLIP	23824327
MIRT650325	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT621272	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT621271	hsa-miR-764	HITS-CLIP	23824327
MIRT621270	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT621269	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT621266	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT634000	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT633999	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT633998	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT633997	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT621264	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621263	hsa-miR-640	HITS-CLIP	23824327
MIRT621272	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT621271	hsa-miR-764	HITS-CLIP	23824327
MIRT621270	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT621269	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT621268	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT621266	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT621267	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT621265	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT621264	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621263	hsa-miR-640	HITS-CLIP	23824327
MIRT621262	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT495342	hsa-miR-3158-3p	PAR-CLIP	23708386
MIRT495341	hsa-miR-4480	PAR-CLIP	23708386
MIRT495340	hsa-miR-4755-3p	PAR-CLIP	23708386
MIRT495339	hsa-miR-3136-3p	PAR-CLIP	23708386
MIRT495338	hsa-miR-7155-3p	PAR-CLIP	23708386
MIRT495337	hsa-miR-5006-5p	PAR-CLIP	23708386
MIRT685901	hsa-miR-106a-5p	HITS-CLIP	23313552
MIRT685900	hsa-miR-106b-5p	HITS-CLIP	23313552
MIRT685899	hsa-miR-17-5p	HITS-CLIP	23313552
MIRT050482	hsa-miR-20a-5p	HITS-CLIP	23313552
MIRT685898	hsa-miR-20b-5p	HITS-CLIP	23313552
MIRT685897	hsa-miR-519d-3p	HITS-CLIP	23313552
MIRT685896	hsa-miR-526b-3p	HITS-CLIP	23313552
MIRT685895	hsa-miR-93-5p	HITS-CLIP	23313552
MIRT685894	hsa-miR-302a-3p	HITS-CLIP	23313552
MIRT685893	hsa-miR-302b-3p	HITS-CLIP	23313552
MIRT685892	hsa-miR-302c-3p	HITS-CLIP	23313552
MIRT685891	hsa-miR-302d-3p	HITS-CLIP	23313552
MIRT685890	hsa-miR-302e	HITS-CLIP	23313552
MIRT685889	hsa-miR-372-3p	HITS-CLIP	23313552
MIRT685888	hsa-miR-373-3p	HITS-CLIP	23313552
MIRT685887	hsa-miR-520a-3p	HITS-CLIP	23313552
MIRT685886	hsa-miR-520b	HITS-CLIP	23313552
MIRT685885	hsa-miR-520c-3p	HITS-CLIP	23313552
MIRT685884	hsa-miR-520d-3p	HITS-CLIP	23313552
MIRT685883	hsa-miR-520e	HITS-CLIP	23313552
MIRT685882	hsa-miR-4438	HITS-CLIP	23313552
MIRT685881	hsa-miR-512-3p	HITS-CLIP	23313552
MIRT685880	hsa-miR-6504-3p	HITS-CLIP	23313552
MIRT685879	hsa-miR-520g-3p	HITS-CLIP	23313552
MIRT685878	hsa-miR-520h	HITS-CLIP	23313552
MIRT685877	hsa-miR-186-3p	HITS-CLIP	23313552
MIRT685876	hsa-miR-150-5p	HITS-CLIP	23313552
MIRT685875	hsa-miR-619-5p	HITS-CLIP	23313552
MIRT685874	hsa-miR-6506-5p	HITS-CLIP	23313552
MIRT685873	hsa-miR-4731-5p	HITS-CLIP	23313552
MIRT685872	hsa-miR-5589-5p	HITS-CLIP	23313552
MIRT621267	hsa-miR-4757-5p	HITS-CLIP	23313552
MIRT621265	hsa-miR-6744-3p	HITS-CLIP	23313552
MIRT685871	hsa-miR-5095	HITS-CLIP	23313552
MIRT685870	hsa-miR-7151-3p	HITS-CLIP	23313552
MIRT685869	hsa-miR-6807-5p	HITS-CLIP	23313552
MIRT621262	hsa-miR-6878-3p	HITS-CLIP	23313552
MIRT685868	hsa-miR-5089-5p	HITS-CLIP	23313552
MIRT621272	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT621270	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT621269	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT621268	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT621266	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT650330	hsa-miR-4635	HITS-CLIP	23824327
MIRT650329	hsa-miR-4680-5p	HITS-CLIP	23824327
MIRT633999	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT633998	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT650328	hsa-miR-431-5p	HITS-CLIP	23824327
MIRT633997	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT621264	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT650327	hsa-miR-7158-3p	HITS-CLIP	23824327
MIRT650326	hsa-miR-203b-3p	HITS-CLIP	23824327
MIRT621263	hsa-miR-640	HITS-CLIP	23824327
MIRT650324	hsa-miR-5000-5p	HITS-CLIP	23824327
MIRT650325	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT621272	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT621271	hsa-miR-764	HITS-CLIP	23824327
MIRT621270	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT621269	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT621266	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT634000	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT633999	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT633998	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT633997	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT621264	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621263	hsa-miR-640	HITS-CLIP	23824327
MIRT621272	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT621271	hsa-miR-764	HITS-CLIP	23824327
MIRT621270	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT621269	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT621268	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT621266	hsa-miR-3189-3p	HITS-CLIP	23824327
MIRT621267	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT621265	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT621264	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT621263	hsa-miR-640	HITS-CLIP	23824327
MIRT621262	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT495342	hsa-miR-3158-3p	PAR-CLIP	23708386
MIRT495341	hsa-miR-4480	PAR-CLIP	23708386
MIRT495340	hsa-miR-4755-3p	PAR-CLIP	23708386
MIRT495339	hsa-miR-3136-3p	PAR-CLIP	23708386
MIRT495338	hsa-miR-7155-3p	PAR-CLIP	23708386
MIRT495337	hsa-miR-5006-5p	PAR-CLIP	23708386
MIRT1321939	hsa-miR-3153	CLIP-seq
MIRT1321940	hsa-miR-3186-5p	CLIP-seq
MIRT1321941	hsa-miR-3690	CLIP-seq
MIRT1321942	hsa-miR-4254	CLIP-seq
MIRT1321943	hsa-miR-4446-3p	CLIP-seq
MIRT1321944	hsa-miR-4468	CLIP-seq
MIRT1321945	hsa-miR-4488	CLIP-seq
MIRT1321946	hsa-miR-4492	CLIP-seq
MIRT1321947	hsa-miR-4498	CLIP-seq
MIRT1321948	hsa-miR-4505	CLIP-seq
MIRT1321949	hsa-miR-4540	CLIP-seq
MIRT1321950	hsa-miR-4668-5p	CLIP-seq
MIRT1321951	hsa-miR-4697-5p	CLIP-seq
MIRT1321952	hsa-miR-4706	CLIP-seq
MIRT1321953	hsa-miR-4734	CLIP-seq
MIRT1321954	hsa-miR-4749-5p	CLIP-seq
MIRT1321955	hsa-miR-486-3p	CLIP-seq
MIRT1321956	hsa-miR-604	CLIP-seq
MIRT1321957	hsa-miR-635	CLIP-seq
MIRT1321958	hsa-miR-637	CLIP-seq
MIRT1321959	hsa-miR-744	CLIP-seq
MIRT1321960	hsa-miR-762	CLIP-seq
MIRT1321961	hsa-miR-1292	CLIP-seq
MIRT1321962	hsa-miR-1293	CLIP-seq
MIRT1321963	hsa-miR-146b-3p	CLIP-seq
MIRT1321964	hsa-miR-151-5p	CLIP-seq
MIRT1321965	hsa-miR-151b	CLIP-seq
MIRT1321966	hsa-miR-3173-5p	CLIP-seq
MIRT1321967	hsa-miR-339-5p	CLIP-seq
MIRT1321968	hsa-miR-4421	CLIP-seq
MIRT1321969	hsa-miR-4471	CLIP-seq
MIRT1321970	hsa-miR-4483	CLIP-seq
MIRT1321971	hsa-miR-4651	CLIP-seq
MIRT1321972	hsa-miR-4779	CLIP-seq
MIRT1321973	hsa-miR-608	CLIP-seq
MIRT1321974	hsa-miR-645	CLIP-seq
MIRT1321975	hsa-miR-874	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15286784, 22232211
GO:0005783	Component	Endoplasmic reticulum	IDA	22232211
GO:0005882	Component	Intermediate filament	ISS
GO:0009986	Component	Cell surface	IEA
GO:0014802	Component	Terminal cisterna	ISS
GO:0030018	Component	Z disc	ISS
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	NAS	9693037
GO:0030315	Component	T-tubule	ISS
GO:0046324	Process	Regulation of glucose import	ISS
GO:0065002	Process	Intracellular protein transmembrane transport	ISS
GO:1902430	Process	Negative regulation of amyloid-beta formation	IDA	15286784

Other IDs

• MIM: 603183
• HGNC: 10468
• e!Ensembl: ENSG00000125744

Protein

• UniProt ID: O75298
• Protein name: Reticulon-2 (Neuroendocrine-specific protein-like 1) (NSP-like protein 1) (Neuroendocrine-specific protein-like I) (NSP-like protein I) (NSPLI)
• Protein function: Inhibits amyloid precursor protein processing, probably by blocking BACE1 activity (PubMed:15286784). Enhances trafficking of the glutamate transporter SLC1A1/EAAC1 from the endoplasmic reticulum to the cell surface (By similarity). Plays a role
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02453	Reticulon	345 → 509	Reticulon	Family

• Tissue specificity: TISSUE SPECIFICITY: [Isoform RTN2-C]: Highly expressed in skeletal muscle. {ECO:0000269|PubMed:9693037}.
• Sequence:

  MGQVLPVFAHCKEAPSTASSTPDSTEGGNDDSDFRELHTAREFSEEDEEETTSQDWGTPR
  ELTFSYIAFDGVVGSGGRRDSTARRPRPQGRSVSEPRDQHPQPSLGDSLESIPSLSQSPE
  PGRRGDPDTAPPSERPLEDLRLRLDHLGWVARGTGSGEDSSTSSSTPLEDEEPQEPNRLE
  TGEAGEELDLRLRLAQPSSPEVLTPQLSPGSGTPQAGTPSPSRSRDSNSGPEEPLLEEEE
  KQWGPLEREPVRGQCLDSTDQLEFTVEPRLLGTAMEWLKTSLLLAVYKTVPILELSPPLW
  TAIGWVQRGPTPPTPVLRVLLKWAKSPRSSGVPSLSLGADMGSKVADLLYWKDTRTSGVV
  FTGLMVSLLCLLHFSIVSVAAHLALLLLCGTISLRVYRKVLQAVHRGDGANPFQAYLDVD
  LTLTREQTERLSHQITSRVVSAATQLRHFFLVEDLVDSLKLALLFYILTFVGAIFNGLTL
  LILGVIGLFTIPLLYRQHQAQIDQYVGLVTNQLSHIKAKIRAKIPGTGALASAAAAVSGS
  KAKAE

• Sequence length: 545

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Spastic paraplegia	Spastic Paraplegia, Autosomal dominant spastic paraplegia type 12	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
Spondylometaphyseal dysplasia	SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder)	rs77975504, rs121912634, rs121912637, rs267607148, rs267607149, rs515726162, rs1599810980, rs769967246, rs786203989, rs1064795155, rs1553658926, rs1553659131, rs1181638652, rs1553667072, rs1553669703, rs140451304, rs1114167892, rs1114167893, rs778222701, rs1131690800, rs763623409, rs922930539, rs555164150, rs1555716575, rs1559604072, rs1559609410, rs1559616744, rs1596247721, rs1602071514	22232211, 28362824

Unknown
Disease term	Disease name	Evidence	References	Source
Spastic Paraplegia	hereditary spastic paraplegia 12			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Lymphatic Metastasis	Stimulate	35428758
Motor Neuron Disease	Associate	22232211
Muscle Hypertonia	Associate	35684947
Neoplasm Metastasis	Stimulate	35428758
Neoplasms	Stimulate	35428758
Neoplasms	Associate	36177918
Ovarian Neoplasms	Stimulate	36177918
Seizures	Associate	35684947
Signs and Symptoms	Associate	35684947
Spastic paraplegia 12 autosomal dominant	Associate	22232211, 35684947
Spastic Paraplegia Hereditary	Associate	10677333, 22232211, 23969831, 35684947
Stomach Neoplasms	Associate	35428758
Vision Disorders	Associate	35684947