RTN2 (reticulon 2)

Gene

• Entrez ID: 6253
• Gene name: Reticulon 2
• Gene symbol: RTN2
• Synonyms (NCBI Gene): HMNR11, NSP2, NSPL1, NSPLI, 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, 25612671, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	22232211
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	9693037
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0007420	Process	Brain development	IBA
GO:0009986	Component	Cell surface	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014069	Component	Postsynaptic density	IBA
GO:0014802	Component	Terminal cisterna	IEA
GO:0014802	Component	Terminal cisterna	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0030018	Component	Z disc	IEA
GO:0030018	Component	Z disc	ISS
GO:0030182	Process	Neuron differentiation	IBA
GO:0030315	Component	T-tubule	IEA
GO:0030315	Component	T-tubule	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0046324	Process	Regulation of D-glucose import	IEA
GO:0046324	Process	Regulation of D-glucose import	ISS
GO:0065002	Process	Intracellular protein transmembrane transport	IEA
GO:0065002	Process	Intracellular protein transmembrane transport	ISS
GO:0071787	Process	Endoplasmic reticulum tubular network formation	IBA
GO:1902430	Process	Negative regulation of amyloid-beta formation	IDA	15286784
GO:1902430	Process	Negative regulation of amyloid-beta formation	IEA
GO:1990809	Process	Endoplasmic reticulum tubular network membrane organization	IBA

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

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hereditary spastic paraplegia 12	Likely pathogenic; Pathogenic	rs1162797495, rs2513740146, rs1968243327, rs763387041, rs1968241252	RCV001780309 RCV003133821 RCV004584291 RCV000023259 RCV001330101	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity	Pathogenic	rs2513743643, rs2513742001, rs561968273, rs763387041	RCV004584292 RCV004584293 RCV004584294 RCV004584177	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Pathogenic; Likely pathogenic	rs758370815, rs1162797495, rs1968087179, rs2513740146, rs1968241252	RCV001386989 RCV001382027 RCV001973738 RCV005099302 RCV001201850	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1421302939	RCV005910905	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 12	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary spastic paraplegia	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RTN2-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia, autosomal dominant	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal male sexual function	Abnormal Male Sexual Function	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant spastic paraplegia type 12	Spastic Paraplegia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cyclocephaly	Cyclocephaly	BEFREE	28028038		★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	HPO_DG			★☆☆☆☆ Found in Text Mining only
Female sexual dysfunction	Female sexual dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	22487061, 30322331		★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	BEFREE	11839840		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	GWASCAT_DG	26252872		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	35428758	Stimulate	★☆☆☆☆ Found in Text Mining only
Male sexual dysfunction	Male sexual dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	22232211	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36177918	Stimulate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	35684947	Associate	★☆☆☆☆ Found in Text Mining only
Sensory Disorders	Sensory Disorders	BEFREE	12427890		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	15899130		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	11354831		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic paraplegia 12 autosomal dominant	Spastic paraplegia	Pubtator	22232211, 35684947	Associate	★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder)	Spondylometaphyseal dysplasia	GENOMICS_ENGLAND_DG	22232211, 28362824		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder)	Spondylometaphyseal dysplasia	UNIPROT_DG	22232211		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder)	Spondylometaphyseal dysplasia	ORPHANET_DG	22232211		★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder)	Spondylometaphyseal dysplasia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder)	Spondylometaphyseal dysplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	10677333, 22232211, 23969831, 35684947	Associate	★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	22232211		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	35428758	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	35684947	Associate	★☆☆☆☆ Found in Text Mining only