Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	65055
Gene name	Receptor accessory protein 1
Gene symbol	REEP1
Synonyms (NCBI Gene)	C2orf23DSMA6HMN5BHMND12HMNR6SPG31Yip2a
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

Show/Hide all (21)

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

197

Show/Hide all (197)

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

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20200447, 23969831, 32296183
GO:0005737	Component	Cytoplasm	IDA	15550249
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	20200447
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005881	Component	Cytoplasmic microtubule	IBA
GO:0008017	Function	Microtubule binding	IBA
GO:0008017	Function	Microtubule binding	IDA	20200447
GO:0016020	Component	Membrane	IDA	20200447
GO:0016020	Component	Membrane	IEA
GO:0031849	Function	Olfactory receptor binding	IBA
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
GO:0071782	Component	Endoplasmic reticulum tubular network	ISS
GO:0071786	Process	Endoplasmic reticulum tubular network organization	IBA
GO:0071786	Process	Endoplasmic reticulum tubular network organization	IMP	20200447

MIM	HGNC	e!Ensembl
609139	25786	ENSG00000068615

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

Interactions

View interactions

	Reactome
			Olfactory Signaling Pathway

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

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Charcot-Marie-Tooth disease	Pathogenic	rs387907242	RCV000789557	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Likely pathogenic	rs1064797257	RCV005899692	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia	Pathogenic; Likely pathogenic	rs2104223296, rs2104224809, rs2104223760, rs2104395088, rs387906263, rs121918262, rs121918263, rs1060503494, rs1266102026, rs1574077569	RCV001847255 RCV001847499 RCV001847500 RCV001847502 RCV001847562 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary spastic paraplegia 31	Pathogenic; Likely pathogenic	rs2104223296, rs138656911, rs2104244665, rs2104054009, rs2104562914, rs387906263, rs387906264, rs121918262, rs121918263, rs2468891033, rs2468890850, rs2468890649, rs786204081, rs2468826608, rs2468983226 View all (30 more)	RCV001381758 RCV001386861 RCV001390200 RCV001386988 RCV001994630 View all (44 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuronopathy, distal hereditary motor, type 5B	Likely pathogenic; Pathogenic	rs2104244539, rs2104394897, rs2104562914, rs387907242	RCV001526840 RCV001542525 RCV002262182 RCV000029244	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
REEP1-related disorder	Likely pathogenic	rs1681105619	RCV004731114	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Likely pathogenic; Pathogenic	rs121918262, rs1574077569	RCV001003951 RCV001003952	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spinal muscular atrophy, distal, autosomal recessive, 6	Likely pathogenic; Pathogenic	rs2104244539, rs2468890850, rs869320621	RCV002280585 RCV002280599 RCV002280583	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (25)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 31	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 5	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 12	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE 5A	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyneuropathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia, autosomal dominant	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA, HEREDITARY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spasticity	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (60)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acquired partial lipodystrophy	Acquired Partial Lipodystrophy	BEFREE	27638887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant spastic paraplegia type 31	Spastic Paraplegia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	30575323	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG	22703882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	23065789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	29453334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal hereditary motor neuropathy type 5	Distal Hereditary Motor Neuronopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Henoch-Schoenlein Purpura	Henoch-Schonlein Nephritis	BEFREE	16826527, 18321925, 18644145, 19034539, 20550563, 20718791, 21618648, 22232211, 22703882, 23812641, 24051371, 24051375, 24478229, 25421405, 26201691 View all (5 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Autosomal Dominant Spastic Paraplegia	Spastic paraplegia	BEFREE	18321925, 19072839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary liability to pressure palsies	Hereditary Liability To Pressure Palsies	BEFREE	30637453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor Neuronopathy	Distal hereditary motor neuronopathy	BEFREE	29107646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	22062632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	BEFREE	27638887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	27638887		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	22062632		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	29908077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis Chronic Progressive	Multiple sclerosis	Pubtator	29908077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29107646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16826527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	16826527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Distal hereditary motor neuropathy	Pubtator	22703882, 34193129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	BEFREE	22703882		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	ORPHANET_DG	22703882		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB	Neuronopathy	GENOMICS_ENGLAND_DG	18321925, 22703882		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB	Neuronopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy hereditary motor and sensory Russe type	Hereditary motor and sensory neuropathy	Pubtator	34193129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	18321925, 24986827	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	29124833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	18321925	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	29124833, 30637453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	29124833, 30637453		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	30637453		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polyneuropathy, Motor	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	23108492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	24051375, 29107646, 29908077		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia	Spastic Paraplegia	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia	Spastic Paraplegia	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia 10, autosomal dominant	Spondylometaphyseal dysplasia	BEFREE	28491902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 3, autosomal dominant	Spastic paraplegia	BEFREE	26671083		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia 31 Autosomal Dominant	Spastic paraplegia	Pubtator	29908077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT	Spastic Paraplegia	UNIPROT_DG	16826527, 18644145, 20718791, 21618648, 22703882, 24478229		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT	Spastic Paraplegia	CLINVAR_DG	16826527, 18321925, 19034539, 20718791, 22703882, 24478229, 26201691, 29629531		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT	Spastic Paraplegia	GENOMICS_ENGLAND_DG	18321925, 22703882		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT	Spastic Paraplegia	BEFREE	19034539, 26671083		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT	Spastic Paraplegia	ORPHANET_DG	22703882		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT	Spastic Paraplegia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic paraplegia 4, autosomal dominant	Spastic Paraplegia	BEFREE	26671083		★★★★★ ★☆☆☆☆ Found in Text Mining only
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE	Spastic paraplegia	BEFREE	23065789		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	18321925, 18644145, 20718791, 22703882, 23969831, 25421405, 34715294, 34983064, 38479332	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	16826527, 18321925, 19034539, 20718791, 22703882, 24051371, 24478229, 26201691, 26671083, 27638887, 28099355, 30637453		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	LHGDN	18321925		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic Paraplegia, Hereditary	Spastic paraplegia	CLINVAR_DG	28832565		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spastic tetraparesis	Spastic tetraparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

REEP1 (receptor accessory protein 1)