SIGMAR1 (sigma non-opioid intracellular receptor 1)

Gene

• Entrez ID: 10280
• Gene name: Sigma non-opioid intracellular receptor 1
• Gene symbol: SIGMAR1
• Synonyms (NCBI Gene): ALS16, DSMA2, HMNR2, OPRS1, SIG-1R, SR-BP, SR-BP1, SRBP, hSigmaR1, sigma1R
• 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,

SNPs

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

miRNA

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

Transcription factors

Transcription factor	Regulation	Reference
ATF4	Activation	22079628

Gene ontology (GO)

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

Other IDs

• MIM: 601978
• HGNC: 8157
• e!Ensembl: ENSG00000147955

Protein

• UniProt ID: 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

Pathways

KEGG:

Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases

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
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	RCV001378556 RCV001378960 RCV001942103 RCV002273264 RCV000191128 RCV003002598 RCV003799189 RCV003800917 RCV000023162 RCV000496171 RCV000496131 RCV000697805 RCV000690078 RCV000805664 RCV001095535 RCV001095534 RCV001880117	★★★★★ 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	RCV001378556 RCV001378960 RCV001942103 RCV000190343 RCV000819808 RCV003002598 RCV003799189 RCV003800917 RCV001852015 RCV002527125 RCV000697805 RCV000690078 RCV000761539 RCV000805664 RCV001856288 RCV001880117	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
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
HIV INFECTIONS	—	CTD	★★☆☆☆ 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

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Acute Lung Injury	Associate	37714499	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Associate	39800452	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Associate	22739338, 40097075	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis 2 Juvenile	Associate	30079398	★☆☆☆☆ Found in Text Mining only
Brain Damage Chronic	Associate	25261976	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Associate	39800452	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	33832505	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Associate	25261976	★☆☆☆☆ Found in Text Mining only
Charcot Marie Tooth disease X linked recessive 2	Associate	31167812	★☆☆☆☆ Found in Text Mining only
Clubfoot	Associate	30079398	★☆☆☆☆ Found in Text Mining only
Dementia	Associate	22739338	★☆☆☆☆ Found in Text Mining only
Distal Hereditary Motor Neuropathy Type II	Associate	27402882, 30079398, 32600828	★☆☆☆☆ Found in Text Mining only
Dizziness	Associate	39800452	★☆☆☆☆ Found in Text Mining only
Drug Related Side Effects and Adverse Reactions	Associate	33453999, 39800452	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Associate	22511599	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Associate	36251517	★☆☆☆☆ Found in Text Mining only
Fibrosis	Associate	36251517	★☆☆☆☆ Found in Text Mining only
Hyperalgesia	Associate	30266269	★☆☆☆☆ Found in Text Mining only
Hypesthesia	Associate	29593724	★☆☆☆☆ Found in Text Mining only
Leprosy	Associate	29593724	★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Associate	30079398, 33453999	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Associate	22511599	★☆☆☆☆ Found in Text Mining only
Microphthalmia Syndromic 10	Associate	39800452	★☆☆☆☆ Found in Text Mining only
Motor Disorders	Associate	27402882	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Associate	39595926	★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Associate	31511340	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	22511599, 22952230, 39595926	★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes Hereditary	Associate	31167812	★☆☆☆☆ Found in Text Mining only
Neuralgia	Associate	29593724, 30266269	★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Associate	27402882	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	40383808	★☆☆☆☆ Found in Text Mining only
Pain	Associate	29593724, 30266269	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Associate	30079398	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy Distal Autosomal Recessive 3	Associate	27402882	★☆☆☆☆ Found in Text Mining only
Spinal muscular atrophy Jerash type	Associate	31511340	★☆☆☆☆ Found in Text Mining only