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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10280
Gene name	Sigma non-opioid intracellular receptor 1
Gene symbol	SIGMAR1
Synonyms (NCBI Gene)	ALS16DSMA2HMNR2OPRS1SIG-1RSR-BPSR-BP1SRBPhSigmaR1sigma1R
Chromosome	9
Chromosome location	9p13.3
Summary	This gene encodes a receptor protein that interacts with a variety of psychotomimetic drugs, including cocaine and amphetamines. The receptor is believed to play an important role in the cellular functions of various tissues associated with the endocrine,

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906829	C>G,T	Pathogenic	Intron variant, synonymous variant, missense variant, coding sequence variant
rs747285235	G>-	Pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs780136067	->G	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs796065352	C>A	Pathogenic	Splice donor variant, intron variant
rs1270528470	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs1554707622	GCTCCTGTCTATCCGCAGGTCTTCCTTCAGGCCTGGCTGGTCAAGGGTCCTGGCCAAAGAGGTAGGTGGTGAGCTCAAGCCGGAGGCCCCGAGCATAGGAGCGAAGAGTATAGAAGAGGGTGAGGAAGTCCTGGGTGCTGAAGACAGTGTCGGCCAGCGCGAAGGCCAGGGTGGATGGGATGACGCCCCGGCCGTACTCCACCATCCATGTGTTTGGCCCCCACTCCACAGCTGTTGCCTCACCAGGCCCGTGTA	Likely-pathogenic	Splice acceptor variant, terminator codon variant, non coding transcript variant, 3 prime UTR variant, intron variant
rs1554707680	TGAAGACAGTGTCGGC>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant, 3 prime UTR variant
rs1564096221	G>A	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs1564096761	C>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant

228

Show/Hide all (228)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004655	hsa-miR-205-5p	Luciferase reporter assay	20065103
MIRT005041	hsa-let-7b-5p	pSILAC	18668040
MIRT005041	hsa-let-7b-5p	Microarray	17699775
MIRT023810	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT025728	hsa-miR-7-5p	Microarray	19073608
MIRT027830	hsa-miR-98-5p	Microarray	19088304
MIRT005041	hsa-let-7b-5p	Proteomics	18668040
MIRT039068	hsa-miR-769-3p	CLASH	23622248
MIRT037285	hsa-miR-877-5p	CLASH	23622248
MIRT036085	hsa-miR-1296-5p	CLASH	23622248
MIRT569160	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT569158	hsa-miR-567	PAR-CLIP	20371350
MIRT569157	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT569156	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT569155	hsa-miR-297	PAR-CLIP	20371350
MIRT569154	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT569153	hsa-miR-147a	PAR-CLIP	20371350
MIRT569152	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT569160	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT569158	hsa-miR-567	PAR-CLIP	20371350
MIRT569157	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT569156	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT569155	hsa-miR-297	PAR-CLIP	20371350
MIRT569154	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT569153	hsa-miR-147a	PAR-CLIP	20371350
MIRT569152	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT569157	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT569157	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT569157	hsa-miR-223-5p	HITS-CLIP	27418678
MIRT569155	hsa-miR-297	HITS-CLIP	27418678
MIRT569155	hsa-miR-297	HITS-CLIP	27418678
MIRT569155	hsa-miR-297	HITS-CLIP	27418678
MIRT569160	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT569160	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT569160	hsa-miR-511-3p	HITS-CLIP	27418678
MIRT569158	hsa-miR-567	HITS-CLIP	27418678
MIRT569158	hsa-miR-567	HITS-CLIP	27418678
MIRT569158	hsa-miR-567	HITS-CLIP	27418678
MIRT569152	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT569152	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT569152	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT569156	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT569156	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT569156	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT569160	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT569158	hsa-miR-567	PAR-CLIP	20371350
MIRT569157	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT569156	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT569155	hsa-miR-297	PAR-CLIP	20371350
MIRT569154	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT569153	hsa-miR-147a	PAR-CLIP	20371350
MIRT569152	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT569160	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT569158	hsa-miR-567	PAR-CLIP	20371350
MIRT569157	hsa-miR-223-5p	PAR-CLIP	20371350
MIRT569156	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT569155	hsa-miR-297	PAR-CLIP	20371350
MIRT569154	hsa-miR-6818-5p	PAR-CLIP	20371350
MIRT569153	hsa-miR-147a	PAR-CLIP	20371350
MIRT569152	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT1348640	hsa-miR-1827	CLIP-seq
MIRT1348641	hsa-miR-2682	CLIP-seq
MIRT1348642	hsa-miR-361-3p	CLIP-seq
MIRT1348643	hsa-miR-369-3p	CLIP-seq
MIRT1348644	hsa-miR-374a	CLIP-seq
MIRT1348645	hsa-miR-374b	CLIP-seq
MIRT1348646	hsa-miR-449c	CLIP-seq
MIRT1348647	hsa-miR-4764-3p	CLIP-seq
MIRT1348648	hsa-miR-618	CLIP-seq
MIRT1348649	hsa-miR-124	CLIP-seq
MIRT1348650	hsa-miR-3714	CLIP-seq
MIRT1348651	hsa-miR-3910	CLIP-seq
MIRT1348652	hsa-miR-4450	CLIP-seq
MIRT1348653	hsa-miR-506	CLIP-seq
MIRT2327651	hsa-miR-766	CLIP-seq
MIRT2394531	hsa-miR-1909	CLIP-seq
MIRT2394532	hsa-miR-214	CLIP-seq
MIRT2394533	hsa-miR-3619-5p	CLIP-seq
MIRT2394534	hsa-miR-4421	CLIP-seq
MIRT2394535	hsa-miR-4796-5p	CLIP-seq
MIRT2394536	hsa-miR-761	CLIP-seq
MIRT2433197	hsa-miR-103a	CLIP-seq
MIRT2433198	hsa-miR-107	CLIP-seq
MIRT2394531	hsa-miR-1909	CLIP-seq
MIRT2394532	hsa-miR-214	CLIP-seq
MIRT2433199	hsa-miR-3123	CLIP-seq
MIRT2394533	hsa-miR-3619-5p	CLIP-seq
MIRT2433200	hsa-miR-3919	CLIP-seq
MIRT2433201	hsa-miR-4520a-3p	CLIP-seq
MIRT2433202	hsa-miR-4675	CLIP-seq
MIRT2433203	hsa-miR-4741	CLIP-seq
MIRT2394536	hsa-miR-761	CLIP-seq
MIRT2459382	hsa-miR-193a-5p	CLIP-seq
MIRT2622664	hsa-miR-1	CLIP-seq
MIRT2433197	hsa-miR-103a	CLIP-seq
MIRT2433198	hsa-miR-107	CLIP-seq
MIRT2622665	hsa-miR-1245b-5p	CLIP-seq
MIRT2622666	hsa-miR-1299	CLIP-seq
MIRT2622667	hsa-miR-147	CLIP-seq
MIRT1348640	hsa-miR-1827	CLIP-seq
MIRT2622668	hsa-miR-190	CLIP-seq
MIRT2394531	hsa-miR-1909	CLIP-seq
MIRT2459382	hsa-miR-193a-5p	CLIP-seq
MIRT2622669	hsa-miR-1972	CLIP-seq
MIRT2622670	hsa-miR-206	CLIP-seq
MIRT2622671	hsa-miR-2115	CLIP-seq
MIRT2394532	hsa-miR-214	CLIP-seq
MIRT1348641	hsa-miR-2682	CLIP-seq
MIRT2433199	hsa-miR-3123	CLIP-seq
MIRT2622672	hsa-miR-3142	CLIP-seq
MIRT2622673	hsa-miR-3150a-3p	CLIP-seq
MIRT2622674	hsa-miR-3174	CLIP-seq
MIRT2622675	hsa-miR-3175	CLIP-seq
MIRT2622676	hsa-miR-3606	CLIP-seq
MIRT1348642	hsa-miR-361-3p	CLIP-seq
MIRT2394533	hsa-miR-3619-5p	CLIP-seq
MIRT2622677	hsa-miR-3673	CLIP-seq
MIRT2622678	hsa-miR-3688-3p	CLIP-seq
MIRT2622679	hsa-miR-3689b	CLIP-seq
MIRT2622680	hsa-miR-3689d	CLIP-seq
MIRT2622681	hsa-miR-3692	CLIP-seq
MIRT1348643	hsa-miR-369-3p	CLIP-seq
MIRT1348644	hsa-miR-374a	CLIP-seq
MIRT1348645	hsa-miR-374b	CLIP-seq
MIRT2433200	hsa-miR-3919	CLIP-seq
MIRT2622682	hsa-miR-3925-3p	CLIP-seq
MIRT2622683	hsa-miR-3978	CLIP-seq
MIRT1348646	hsa-miR-449c	CLIP-seq
MIRT2433201	hsa-miR-4520a-3p	CLIP-seq
MIRT2622684	hsa-miR-4633-3p	CLIP-seq
MIRT2622685	hsa-miR-4640-3p	CLIP-seq
MIRT2622686	hsa-miR-4645-5p	CLIP-seq
MIRT2622687	hsa-miR-4673	CLIP-seq
MIRT2433202	hsa-miR-4675	CLIP-seq
MIRT2622688	hsa-miR-4679	CLIP-seq
MIRT2622689	hsa-miR-4711-3p	CLIP-seq
MIRT2433203	hsa-miR-4741	CLIP-seq
MIRT2622690	hsa-miR-4747-5p	CLIP-seq
MIRT1348647	hsa-miR-4764-3p	CLIP-seq
MIRT2622691	hsa-miR-4782-5p	CLIP-seq
MIRT2622692	hsa-miR-487a	CLIP-seq
MIRT2622693	hsa-miR-491-5p	CLIP-seq
MIRT2622694	hsa-miR-515-5p	CLIP-seq
MIRT2622695	hsa-miR-516b	CLIP-seq
MIRT2622696	hsa-miR-541	CLIP-seq
MIRT2622697	hsa-miR-548a-3p	CLIP-seq
MIRT2622698	hsa-miR-548e	CLIP-seq
MIRT2622699	hsa-miR-548f	CLIP-seq
MIRT2622700	hsa-miR-548g	CLIP-seq
MIRT2622701	hsa-miR-570	CLIP-seq
MIRT2622702	hsa-miR-613	CLIP-seq
MIRT1348648	hsa-miR-618	CLIP-seq
MIRT2622703	hsa-miR-654-5p	CLIP-seq
MIRT2622704	hsa-miR-7	CLIP-seq
MIRT2394536	hsa-miR-761	CLIP-seq
MIRT2622705	hsa-miR-765	CLIP-seq
MIRT2327651	hsa-miR-766	CLIP-seq
MIRT2622706	hsa-miR-875-3p	CLIP-seq
MIRT2622707	hsa-miR-921	CLIP-seq
MIRT2622708	hsa-miR-935	CLIP-seq
MIRT2622709	hsa-miR-939	CLIP-seq
MIRT2433197	hsa-miR-103a	CLIP-seq
MIRT2433198	hsa-miR-107	CLIP-seq
MIRT2622665	hsa-miR-1245b-5p	CLIP-seq
MIRT2622666	hsa-miR-1299	CLIP-seq
MIRT2622667	hsa-miR-147	CLIP-seq
MIRT1348640	hsa-miR-1827	CLIP-seq
MIRT2622668	hsa-miR-190	CLIP-seq
MIRT2394531	hsa-miR-1909	CLIP-seq
MIRT2459382	hsa-miR-193a-5p	CLIP-seq
MIRT2622669	hsa-miR-1972	CLIP-seq
MIRT2622671	hsa-miR-2115	CLIP-seq
MIRT2394532	hsa-miR-214	CLIP-seq
MIRT1348641	hsa-miR-2682	CLIP-seq
MIRT2433199	hsa-miR-3123	CLIP-seq
MIRT2622672	hsa-miR-3142	CLIP-seq
MIRT2622673	hsa-miR-3150a-3p	CLIP-seq
MIRT2622674	hsa-miR-3174	CLIP-seq
MIRT2622675	hsa-miR-3175	CLIP-seq
MIRT2690746	hsa-miR-3202	CLIP-seq
MIRT2622676	hsa-miR-3606	CLIP-seq
MIRT1348642	hsa-miR-361-3p	CLIP-seq
MIRT2394533	hsa-miR-3619-5p	CLIP-seq
MIRT2622677	hsa-miR-3673	CLIP-seq
MIRT2622678	hsa-miR-3688-3p	CLIP-seq
MIRT2622679	hsa-miR-3689b	CLIP-seq
MIRT2622680	hsa-miR-3689d	CLIP-seq
MIRT2622681	hsa-miR-3692	CLIP-seq
MIRT1348643	hsa-miR-369-3p	CLIP-seq
MIRT1348644	hsa-miR-374a	CLIP-seq
MIRT1348645	hsa-miR-374b	CLIP-seq
MIRT2433200	hsa-miR-3919	CLIP-seq
MIRT2622682	hsa-miR-3925-3p	CLIP-seq
MIRT2622683	hsa-miR-3978	CLIP-seq
MIRT2690747	hsa-miR-4476	CLIP-seq
MIRT1348646	hsa-miR-449c	CLIP-seq
MIRT2433201	hsa-miR-4520a-3p	CLIP-seq
MIRT2690748	hsa-miR-4539	CLIP-seq
MIRT2622684	hsa-miR-4633-3p	CLIP-seq
MIRT2622685	hsa-miR-4640-3p	CLIP-seq
MIRT2622686	hsa-miR-4645-5p	CLIP-seq
MIRT2622687	hsa-miR-4673	CLIP-seq
MIRT2433202	hsa-miR-4675	CLIP-seq
MIRT2622688	hsa-miR-4679	CLIP-seq
MIRT2622689	hsa-miR-4711-3p	CLIP-seq
MIRT2433203	hsa-miR-4741	CLIP-seq
MIRT2622690	hsa-miR-4747-5p	CLIP-seq
MIRT1348647	hsa-miR-4764-3p	CLIP-seq
MIRT2622691	hsa-miR-4782-5p	CLIP-seq
MIRT2622692	hsa-miR-487a	CLIP-seq
MIRT2622693	hsa-miR-491-5p	CLIP-seq
MIRT2622694	hsa-miR-515-5p	CLIP-seq
MIRT2622695	hsa-miR-516b	CLIP-seq
MIRT2622696	hsa-miR-541	CLIP-seq
MIRT2622697	hsa-miR-548a-3p	CLIP-seq
MIRT2622698	hsa-miR-548e	CLIP-seq
MIRT2622699	hsa-miR-548f	CLIP-seq
MIRT2622700	hsa-miR-548g	CLIP-seq
MIRT2622701	hsa-miR-570	CLIP-seq
MIRT1348648	hsa-miR-618	CLIP-seq
MIRT2622703	hsa-miR-654-5p	CLIP-seq
MIRT2394536	hsa-miR-761	CLIP-seq
MIRT2622705	hsa-miR-765	CLIP-seq
MIRT2327651	hsa-miR-766	CLIP-seq
MIRT2622706	hsa-miR-875-3p	CLIP-seq
MIRT2622707	hsa-miR-921	CLIP-seq
MIRT2622708	hsa-miR-935	CLIP-seq
MIRT2622709	hsa-miR-939	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
ATF4	Activation	22079628

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004985	Function	G protein-coupled opioid receptor activity	IEA
GO:0005515	Function	Protein binding	IPI	29876881, 32814053
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	9341151, 10406945
GO:0005635	Component	Nuclear envelope	IEA
GO:0005637	Component	Nuclear inner membrane	IEA
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	10406945
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005811	Component	Lipid droplet	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0006869	Process	Lipid transport	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0014069	Component	Postsynaptic density	IDA	23314020
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IDA	8954936, 27042935
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9453537
GO:0030426	Component	Growth cone	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0038003	Process	G protein-coupled opioid receptor signaling pathway	IEA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042802	Function	Identical protein binding	IPI	27042935, 30291362
GO:0042995	Component	Cell projection	IEA
GO:0043523	Process	Regulation of neuron apoptotic process	IMP	21842496
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070207	Process	Protein homotrimerization	IPI	27042935
GO:0098794	Component	Postsynapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0150052	Process	Regulation of postsynapse assembly	IEA

MIM	HGNC	e!Ensembl
601978	8157	ENSG00000147955

Q99720

Protein name

Sigma non-opioid intracellular receptor 1 (Aging-associated gene 8 protein) (SR31747-binding protein) (SR-BP) (Sigma 1-type opioid receptor) (SIG-1R) (Sigma1-receptor) (Sigma1R) (hSigmaR1)

Protein function

Functions in lipid transport from the endoplasmic reticulum and is involved in a wide array of cellular functions probably through regulation of the biogenesis of lipid microdomains at the plasma membrane. Involved in the regulation of different

PDB

5HK1 , 5HK2 , 6DJZ , 6DK0 , 6DK1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04622	ERG2_Sigma1R	12 → 217	ERG2 and Sigma1 receptor like protein	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed with higher expression in liver, colon, prostate, placenta, small intestine, heart and pancreas. Expressed in the retina by retinal pigment epithelial cells. Expressed in alpha-motor neurons (PubMed:23314020). {ECO:000

Sequence

MQWAVGRRWAWAALLLAVAAVLTQVVWLWLGTQSFVFQREEIAQLARQYAGLDHELAFSR
LIVELRRLHPGHVLPDEELQWVFVNAGGWMGAMCLLHASLSEYVLLFGTALGSRGHSGRY
WAEISDTIISGTFHQWREGTTKSEVFYPGETVVHGPGEATAVEWGPNTWMVEYGRGVIPS
TLAFALADTVFSTQDFLTLFYTLRSYARGLRLELTTYLFGQDP

Sequence length

223

Interactions

View interactions

	KEGG
	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple 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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amyotrophic lateral sclerosis type 16	Pathogenic; Likely pathogenic	rs1242817438, rs2132329744, rs1449250083, rs2132323906, rs780136067, rs2492828821, rs2492811707, rs755994483, rs387906829, rs1554707680, rs1554707622, rs140376902, rs1564096761, rs747285235, rs1820836522, rs757260058, rs1820936580 View all (2 more)	RCV001378556 RCV001378960 RCV001942103 RCV002273264 RCV000191128 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive distal spinal muscular atrophy 2	Pathogenic; Likely pathogenic	rs1242817438, rs2132329744, rs1449250083, rs796065352, rs780136067, rs2492828821, rs2492811707, rs755994483, rs387906829, rs1554707680, rs140376902, rs1564096761, rs1564096221, rs747285235, rs757260058, rs1820936580 View all (1 more)	RCV001378556 RCV001378960 RCV001942103 RCV000190343 RCV000819808 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (15)

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.
AMNESIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL HEREDITARY MOTOR NEUROPATHY, JERASH TYPE	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE AMYOTROPHIC LATERAL SCLEROSIS	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 2	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIGMAR1-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, JERASH TYPE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (127)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adult Learning Disorders	Learning Disorders	CTD_human_DG	15451042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	15451042		★★★★★ ★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	30231518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	39800452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	11207432		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amnesia	Amnesia	CTD_human_DG	12028363		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22739338, 24334165, 24684794, 25704013, 25704016, 26205306, 27821430, 28315265, 28315271, 28723387, 28917260, 30824685, 30832324, 31551669, 31607852, 31696229 View all (1 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	22739338, 40097075	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	CTD_human_DG	24885036		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE	Amyotrophic Lateral Sclerosis	GENOMICS_ENGLAND_DG	21842496, 26078401, 27821430		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE	Amyotrophic Lateral Sclerosis	UNIPROT_DG	21842496		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE	Amyotrophic Lateral Sclerosis	CLINVAR_DG	26633545		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE	Amyotrophic Lateral Sclerosis	BEFREE	27821430		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE	Amyotrophic Lateral Sclerosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis 2 Juvenile	Amyotrophic lateral sclerosis	Pubtator	30079398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (disorder)	Amyotrophic lateral sclerosis	BEFREE	24334165, 29086072		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis With Dementia	Amyotrophic Lateral Sclerosis With Dementia	CTD_human_DG	24885036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	CTD_human_DG	24885036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	28791385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	30216117, 31493481, 31803058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	28144920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	39800452	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	28431607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18056441, 25511708, 28114279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33832505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	25261976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	25704015, 26645564, 28315265, 28687423, 28779350, 30006137, 30102416, 30223868, 31290080, 31780884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Ataxia with Central Nervous System Hypomyelinization	Leukoencephalopathy with vanishing white matter	BEFREE	30279648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	11684152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	30079398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28315266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	11207432, 30941035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26645564, 28114279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	11684152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31130863, 31332781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	22739338, 26205306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	22739338	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	30006137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	27032391, 28938641, 30212566, 30216117, 30941035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28525360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28525360		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29421543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27341510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	28315277		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Hereditary Motor Neuropathy Type II	Distal hereditary motor neuropathy	Pubtator	27402882, 30079398, 32600828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal hereditary motor neuropathy, Jerash type	Distal Hereditary Motor Neuronopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	28370447		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	11684152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22511599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	36251517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	31551669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia With Motor Neuron Disease	Frontotemporal Dementia With Motor Neuron Disease	BEFREE	24684794		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	21031579, 22739338, 24313828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Lobar Degeneration	Frontotemporal dementia	CTD_human_DG	24885036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	11684152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28315279, 29031856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	29399701		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	25449906, 26604684, 27818324, 28315271, 28917260, 29783994, 30594810, 31108174, 31156395, 31607852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperalgesia	Hyperalgesia	Pubtator	30266269	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	11207432, 21605063, 22739338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30231518		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	25261976, 28687423, 28779350, 30102416, 31290080		★★★★★ ★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	11684152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	21842496, 23109145, 27821430		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	ORPHANET_DG	21842496, 24085347		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile amyotrophic lateral sclerosis	Amyotrophic Lateral Sclerosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lateral Sclerosis	Lateral Sclerosis	BEFREE	25704015		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	CTD_human_DG	15451042		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disorders	Learning Disorders	CTD_human_DG	15451042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disturbance	Learning Disorders	CTD_human_DG	15451042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	29593724	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	BEFREE	30279648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29399701, 31507082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	30079398, 33453999	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	22511599	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	20178807, 28144920, 30216117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18056441, 25511708, 28114279, 31165385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31826492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26645564, 27885719, 28114279, 28315265, 29399701, 29407216, 29674970, 31780884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16388898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	CTD_human_DG	15451042		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	27032391, 28938641, 30212566, 30216117, 30941035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28350844		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	15635598		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	BEFREE	28144920		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Neuron Disease	Motor Neuron Disease	BEFREE	21031579, 22739338, 24313828, 24684794		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	39595926	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	31511340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25511708, 28114279, 28315265, 29704822, 31165385, 31826492		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	28389336, 31551669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15547783, 24313828, 25704015, 26645564, 28315265, 28315266, 28315269, 28315271, 28554311, 28877319, 28917260, 28990373, 29129596, 29589276, 30075336 View all (4 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroma	Neuroma	BEFREE	28824716		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	29115704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Distal hereditary motor neuropathy	Pubtator	27402882	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	27341510, 27402882		★★★★★ ★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	30972626		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	40383808	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26203861, 28315271, 28917260, 30756361, 31745133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	26203861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	26078401, 27402882, 31607852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	27341510, 28525360, 29421543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	30079398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	28525360, 29421543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	31551669		★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28791385, 29674970		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	22739338, 26205306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31826492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	28877319, 30075336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	28877319, 28927431, 30743048, 31639826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	10686564, 14567761, 15298647, 19439245, 21549171, 28890198		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	14567761, 15298647, 19439245, 21549171		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensory neuropathy	Sensory neuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30728287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	11684152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	29767748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal muscular atrophy Jerash type	Spinal muscular atrophy	Pubtator	31511340	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal muscular atrophy, Jerash type	Spinal Muscular Atrophy	UNIPROT_DG	26078401, 27629094		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal muscular atrophy, Jerash type	Spinal Muscular Atrophy	ORPHANET_DG	26078401		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal muscular atrophy, Jerash type	Spinal Muscular Atrophy	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal muscular atrophy, Jerash type	Spinal Muscular Atrophy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tonic - clonic seizures	Seizure	CTD_human_DG	11684152		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	20178807, 28144920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	11684152		★★★★★ ★☆☆☆☆ Found in Text Mining only

SIGMAR1 (sigma non-opioid intracellular receptor 1)