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	6717
Gene name	Sorcin
Gene symbol	SRI
Synonyms (NCBI Gene)	CP-22CP22SCNV19
Chromosome	7
Chromosome location	7q21.12
Summary	This gene encodes a calcium-binding protein with multiple E-F hand domains that relocates from the cytoplasm to the sarcoplasmic reticulum in response to elevated calcium levels. In addition to regulating intracellular calcium homeostasis it also modulate

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SNP ID	Visualize variation	Clinical significance	Consequence
rs869312940	C>T	Pathogenic	Splice acceptor variant

276

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023807	hsa-miR-1-3p	Proteomics	18668040
MIRT467112	hsa-miR-5580-3p	PAR-CLIP	23592263
MIRT467111	hsa-miR-3171	PAR-CLIP	23592263
MIRT467110	hsa-let-7a-3p	PAR-CLIP	23592263
MIRT467109	hsa-let-7b-3p	PAR-CLIP	23592263
MIRT467108	hsa-let-7f-1-3p	PAR-CLIP	23592263
MIRT467107	hsa-miR-98-3p	PAR-CLIP	23592263
MIRT467106	hsa-miR-4789-5p	PAR-CLIP	23592263
MIRT467105	hsa-let-7f-2-3p	PAR-CLIP	23592263
MIRT467104	hsa-miR-1185-1-3p	PAR-CLIP	23592263
MIRT467103	hsa-miR-1185-2-3p	PAR-CLIP	23592263
MIRT734790	hsa-miR-142-5p	Luciferase reporter assay	32999756
MIRT467112	hsa-miR-5580-3p	PAR-CLIP	23592263
MIRT467111	hsa-miR-3171	PAR-CLIP	23592263
MIRT467110	hsa-let-7a-3p	PAR-CLIP	23592263
MIRT467109	hsa-let-7b-3p	PAR-CLIP	23592263
MIRT467108	hsa-let-7f-1-3p	PAR-CLIP	23592263
MIRT467107	hsa-miR-98-3p	PAR-CLIP	23592263
MIRT467106	hsa-miR-4789-5p	PAR-CLIP	23592263
MIRT467105	hsa-let-7f-2-3p	PAR-CLIP	23592263
MIRT467104	hsa-miR-1185-1-3p	PAR-CLIP	23592263
MIRT467103	hsa-miR-1185-2-3p	PAR-CLIP	23592263
MIRT1389002	hsa-miR-124	CLIP-seq
MIRT1389003	hsa-miR-153	CLIP-seq
MIRT1389004	hsa-miR-186	CLIP-seq
MIRT1389005	hsa-miR-194	CLIP-seq
MIRT1389006	hsa-miR-24	CLIP-seq
MIRT1389007	hsa-miR-28-3p	CLIP-seq
MIRT1389008	hsa-miR-3136-5p	CLIP-seq
MIRT1389009	hsa-miR-3168	CLIP-seq
MIRT1389010	hsa-miR-345	CLIP-seq
MIRT1389011	hsa-miR-3664-3p	CLIP-seq
MIRT1389012	hsa-miR-3714	CLIP-seq
MIRT1389013	hsa-miR-376c	CLIP-seq
MIRT1389014	hsa-miR-3910	CLIP-seq
MIRT1389015	hsa-miR-4284	CLIP-seq
MIRT1389016	hsa-miR-4307	CLIP-seq
MIRT1389017	hsa-miR-4439	CLIP-seq
MIRT1389018	hsa-miR-4477a	CLIP-seq
MIRT1389019	hsa-miR-448	CLIP-seq
MIRT1389020	hsa-miR-450b-5p	CLIP-seq
MIRT1389021	hsa-miR-4513	CLIP-seq
MIRT1389022	hsa-miR-451b	CLIP-seq
MIRT1389023	hsa-miR-4536	CLIP-seq
MIRT1389024	hsa-miR-4676-5p	CLIP-seq
MIRT1389025	hsa-miR-4694-3p	CLIP-seq
MIRT1389026	hsa-miR-4766-3p	CLIP-seq
MIRT1389027	hsa-miR-4799-5p	CLIP-seq
MIRT1389028	hsa-miR-506	CLIP-seq
MIRT1389029	hsa-miR-507	CLIP-seq
MIRT1389030	hsa-miR-5096	CLIP-seq
MIRT1389031	hsa-miR-513a-3p	CLIP-seq
MIRT1389032	hsa-miR-522	CLIP-seq
MIRT1389033	hsa-miR-557	CLIP-seq
MIRT1389034	hsa-miR-561	CLIP-seq
MIRT1389035	hsa-miR-575	CLIP-seq
MIRT1389036	hsa-miR-873	CLIP-seq
MIRT1389037	hsa-miR-1243	CLIP-seq
MIRT1389038	hsa-miR-340	CLIP-seq
MIRT1389039	hsa-miR-3654	CLIP-seq
MIRT1389040	hsa-miR-3978	CLIP-seq
MIRT1389041	hsa-miR-4428	CLIP-seq
MIRT1389042	hsa-miR-4434	CLIP-seq
MIRT1389043	hsa-miR-4516	CLIP-seq
MIRT1389044	hsa-miR-4531	CLIP-seq
MIRT1389045	hsa-miR-583	CLIP-seq
MIRT2632569	hsa-miR-1	CLIP-seq
MIRT2632570	hsa-miR-106a	CLIP-seq
MIRT2632571	hsa-miR-106b	CLIP-seq
MIRT1389002	hsa-miR-124	CLIP-seq
MIRT2632572	hsa-miR-1257	CLIP-seq
MIRT2632573	hsa-miR-1263	CLIP-seq
MIRT2632574	hsa-miR-1285	CLIP-seq
MIRT2632575	hsa-miR-1301	CLIP-seq
MIRT2632576	hsa-miR-1323	CLIP-seq
MIRT2632577	hsa-miR-145	CLIP-seq
MIRT1389003	hsa-miR-153	CLIP-seq
MIRT2632578	hsa-miR-17	CLIP-seq
MIRT2632579	hsa-miR-181a	CLIP-seq
MIRT2632580	hsa-miR-181b	CLIP-seq
MIRT2632581	hsa-miR-181c	CLIP-seq
MIRT2632582	hsa-miR-181d	CLIP-seq
MIRT1389004	hsa-miR-186	CLIP-seq
MIRT1389005	hsa-miR-194	CLIP-seq
MIRT2632583	hsa-miR-2052	CLIP-seq
MIRT2632584	hsa-miR-206	CLIP-seq
MIRT2632585	hsa-miR-20a	CLIP-seq
MIRT2632586	hsa-miR-20b	CLIP-seq
MIRT1389006	hsa-miR-24	CLIP-seq
MIRT1389007	hsa-miR-28-3p	CLIP-seq
MIRT2632587	hsa-miR-3074-3p	CLIP-seq
MIRT2632588	hsa-miR-31	CLIP-seq
MIRT2632589	hsa-miR-3121-3p	CLIP-seq
MIRT2632590	hsa-miR-3128	CLIP-seq
MIRT1389008	hsa-miR-3136-5p	CLIP-seq
MIRT2632591	hsa-miR-3161	CLIP-seq
MIRT1389009	hsa-miR-3168	CLIP-seq
MIRT2632592	hsa-miR-3177-5p	CLIP-seq
MIRT2632593	hsa-miR-3187-5p	CLIP-seq
MIRT2632594	hsa-miR-338-3p	CLIP-seq
MIRT2632595	hsa-miR-3609	CLIP-seq
MIRT2632596	hsa-miR-3613-5p	CLIP-seq
MIRT1389011	hsa-miR-3664-3p	CLIP-seq
MIRT2632597	hsa-miR-3664-5p	CLIP-seq
MIRT2632598	hsa-miR-3673	CLIP-seq
MIRT1389012	hsa-miR-3714	CLIP-seq
MIRT1389013	hsa-miR-376c	CLIP-seq
MIRT1389014	hsa-miR-3910	CLIP-seq
MIRT2632599	hsa-miR-3925-3p	CLIP-seq
MIRT2632600	hsa-miR-3942-3p	CLIP-seq
MIRT2632601	hsa-miR-3945	CLIP-seq
MIRT2632602	hsa-miR-409-3p	CLIP-seq
MIRT2632603	hsa-miR-4253	CLIP-seq
MIRT2632604	hsa-miR-4262	CLIP-seq
MIRT2632605	hsa-miR-4282	CLIP-seq
MIRT1389015	hsa-miR-4284	CLIP-seq
MIRT1389016	hsa-miR-4307	CLIP-seq
MIRT2632606	hsa-miR-4310	CLIP-seq
MIRT1389041	hsa-miR-4428	CLIP-seq
MIRT1389017	hsa-miR-4439	CLIP-seq
MIRT1389018	hsa-miR-4477a	CLIP-seq
MIRT1389019	hsa-miR-448	CLIP-seq
MIRT1389020	hsa-miR-450b-5p	CLIP-seq
MIRT1389021	hsa-miR-4513	CLIP-seq
MIRT1389022	hsa-miR-451b	CLIP-seq
MIRT1389023	hsa-miR-4536	CLIP-seq
MIRT2632607	hsa-miR-4660	CLIP-seq
MIRT1389024	hsa-miR-4676-5p	CLIP-seq
MIRT1389025	hsa-miR-4694-3p	CLIP-seq
MIRT2632608	hsa-miR-4698	CLIP-seq
MIRT2632609	hsa-miR-4714-5p	CLIP-seq
MIRT2632610	hsa-miR-4735-5p	CLIP-seq
MIRT2632611	hsa-miR-4738-3p	CLIP-seq
MIRT1389026	hsa-miR-4766-3p	CLIP-seq
MIRT2632612	hsa-miR-4795-3p	CLIP-seq
MIRT2632613	hsa-miR-4796-3p	CLIP-seq
MIRT1389027	hsa-miR-4799-5p	CLIP-seq
MIRT2632614	hsa-miR-4802-3p	CLIP-seq
MIRT2632615	hsa-miR-488	CLIP-seq
MIRT2632616	hsa-miR-5047	CLIP-seq
MIRT1389028	hsa-miR-506	CLIP-seq
MIRT1389029	hsa-miR-507	CLIP-seq
MIRT1389031	hsa-miR-513a-3p	CLIP-seq
MIRT2632617	hsa-miR-519d	CLIP-seq
MIRT1389032	hsa-miR-522	CLIP-seq
MIRT2632618	hsa-miR-548a-5p	CLIP-seq
MIRT2632619	hsa-miR-548ab	CLIP-seq
MIRT2632620	hsa-miR-548ah	CLIP-seq
MIRT2632621	hsa-miR-548ak	CLIP-seq
MIRT2632622	hsa-miR-548b-5p	CLIP-seq
MIRT2632623	hsa-miR-548c-5p	CLIP-seq
MIRT2632624	hsa-miR-548d-5p	CLIP-seq
MIRT2632625	hsa-miR-548h	CLIP-seq
MIRT2632626	hsa-miR-548i	CLIP-seq
MIRT2632627	hsa-miR-548j	CLIP-seq
MIRT2632628	hsa-miR-548k	CLIP-seq
MIRT2632629	hsa-miR-548l	CLIP-seq
MIRT2632630	hsa-miR-548o	CLIP-seq
MIRT2632631	hsa-miR-548w	CLIP-seq
MIRT2632632	hsa-miR-548y	CLIP-seq
MIRT2632633	hsa-miR-550b	CLIP-seq
MIRT2632634	hsa-miR-556-3p	CLIP-seq
MIRT1389033	hsa-miR-557	CLIP-seq
MIRT2632635	hsa-miR-559	CLIP-seq
MIRT1389034	hsa-miR-561	CLIP-seq
MIRT1389035	hsa-miR-575	CLIP-seq
MIRT2632636	hsa-miR-579	CLIP-seq
MIRT1389045	hsa-miR-583	CLIP-seq
MIRT2632637	hsa-miR-595	CLIP-seq
MIRT2632638	hsa-miR-612	CLIP-seq
MIRT2632639	hsa-miR-613	CLIP-seq
MIRT1389036	hsa-miR-873	CLIP-seq
MIRT2632640	hsa-miR-93	CLIP-seq
MIRT2632569	hsa-miR-1	CLIP-seq
MIRT2632570	hsa-miR-106a	CLIP-seq
MIRT2632571	hsa-miR-106b	CLIP-seq
MIRT1389002	hsa-miR-124	CLIP-seq
MIRT2632572	hsa-miR-1257	CLIP-seq
MIRT2632573	hsa-miR-1263	CLIP-seq
MIRT2632574	hsa-miR-1285	CLIP-seq
MIRT2632576	hsa-miR-1323	CLIP-seq
MIRT2632577	hsa-miR-145	CLIP-seq
MIRT1389003	hsa-miR-153	CLIP-seq
MIRT2632578	hsa-miR-17	CLIP-seq
MIRT1389004	hsa-miR-186	CLIP-seq
MIRT1389005	hsa-miR-194	CLIP-seq
MIRT2632583	hsa-miR-2052	CLIP-seq
MIRT2632584	hsa-miR-206	CLIP-seq
MIRT2632585	hsa-miR-20a	CLIP-seq
MIRT2632586	hsa-miR-20b	CLIP-seq
MIRT1389006	hsa-miR-24	CLIP-seq
MIRT1389007	hsa-miR-28-3p	CLIP-seq
MIRT2632587	hsa-miR-3074-3p	CLIP-seq
MIRT2632588	hsa-miR-31	CLIP-seq
MIRT2632589	hsa-miR-3121-3p	CLIP-seq
MIRT2632590	hsa-miR-3128	CLIP-seq
MIRT1389008	hsa-miR-3136-5p	CLIP-seq
MIRT1389009	hsa-miR-3168	CLIP-seq
MIRT2632592	hsa-miR-3177-5p	CLIP-seq
MIRT2632593	hsa-miR-3187-5p	CLIP-seq
MIRT2632594	hsa-miR-338-3p	CLIP-seq
MIRT1389038	hsa-miR-340	CLIP-seq
MIRT2632595	hsa-miR-3609	CLIP-seq
MIRT2632596	hsa-miR-3613-5p	CLIP-seq
MIRT1389011	hsa-miR-3664-3p	CLIP-seq
MIRT2632597	hsa-miR-3664-5p	CLIP-seq
MIRT2691988	hsa-miR-3667-3p	CLIP-seq
MIRT2632598	hsa-miR-3673	CLIP-seq
MIRT1389012	hsa-miR-3714	CLIP-seq
MIRT1389013	hsa-miR-376c	CLIP-seq
MIRT1389014	hsa-miR-3910	CLIP-seq
MIRT2632599	hsa-miR-3925-3p	CLIP-seq
MIRT2632600	hsa-miR-3942-3p	CLIP-seq
MIRT2632601	hsa-miR-3945	CLIP-seq
MIRT2632602	hsa-miR-409-3p	CLIP-seq
MIRT2632603	hsa-miR-4253	CLIP-seq
MIRT2632605	hsa-miR-4282	CLIP-seq
MIRT1389015	hsa-miR-4284	CLIP-seq
MIRT1389016	hsa-miR-4307	CLIP-seq
MIRT2632606	hsa-miR-4310	CLIP-seq
MIRT1389041	hsa-miR-4428	CLIP-seq
MIRT1389017	hsa-miR-4439	CLIP-seq
MIRT1389018	hsa-miR-4477a	CLIP-seq
MIRT1389019	hsa-miR-448	CLIP-seq
MIRT1389020	hsa-miR-450b-5p	CLIP-seq
MIRT1389021	hsa-miR-4513	CLIP-seq
MIRT1389022	hsa-miR-451b	CLIP-seq
MIRT2691989	hsa-miR-4528	CLIP-seq
MIRT1389023	hsa-miR-4536	CLIP-seq
MIRT1389024	hsa-miR-4676-5p	CLIP-seq
MIRT1389025	hsa-miR-4694-3p	CLIP-seq
MIRT2632608	hsa-miR-4698	CLIP-seq
MIRT2632609	hsa-miR-4714-5p	CLIP-seq
MIRT2632610	hsa-miR-4735-5p	CLIP-seq
MIRT2632611	hsa-miR-4738-3p	CLIP-seq
MIRT2691990	hsa-miR-4764-5p	CLIP-seq
MIRT1389026	hsa-miR-4766-3p	CLIP-seq
MIRT2632612	hsa-miR-4795-3p	CLIP-seq
MIRT2632613	hsa-miR-4796-3p	CLIP-seq
MIRT1389027	hsa-miR-4799-5p	CLIP-seq
MIRT2632614	hsa-miR-4802-3p	CLIP-seq
MIRT2632615	hsa-miR-488	CLIP-seq
MIRT1389028	hsa-miR-506	CLIP-seq
MIRT1389029	hsa-miR-507	CLIP-seq
MIRT1389031	hsa-miR-513a-3p	CLIP-seq
MIRT2632617	hsa-miR-519d	CLIP-seq
MIRT1389032	hsa-miR-522	CLIP-seq
MIRT2632618	hsa-miR-548a-5p	CLIP-seq
MIRT2632619	hsa-miR-548ab	CLIP-seq
MIRT2632620	hsa-miR-548ah	CLIP-seq
MIRT2632621	hsa-miR-548ak	CLIP-seq
MIRT2632622	hsa-miR-548b-5p	CLIP-seq
MIRT2632623	hsa-miR-548c-5p	CLIP-seq
MIRT2632624	hsa-miR-548d-5p	CLIP-seq
MIRT2632625	hsa-miR-548h	CLIP-seq
MIRT2632626	hsa-miR-548i	CLIP-seq
MIRT2632627	hsa-miR-548j	CLIP-seq
MIRT2632628	hsa-miR-548k	CLIP-seq
MIRT2632629	hsa-miR-548l	CLIP-seq
MIRT2632630	hsa-miR-548o	CLIP-seq
MIRT2632631	hsa-miR-548w	CLIP-seq
MIRT2632632	hsa-miR-548y	CLIP-seq
MIRT2632633	hsa-miR-550b	CLIP-seq
MIRT2632634	hsa-miR-556-3p	CLIP-seq
MIRT1389033	hsa-miR-557	CLIP-seq
MIRT2632635	hsa-miR-559	CLIP-seq
MIRT1389034	hsa-miR-561	CLIP-seq
MIRT1389035	hsa-miR-575	CLIP-seq
MIRT2632636	hsa-miR-579	CLIP-seq
MIRT1389045	hsa-miR-583	CLIP-seq
MIRT2632637	hsa-miR-595	CLIP-seq
MIRT2632638	hsa-miR-612	CLIP-seq
MIRT2632639	hsa-miR-613	CLIP-seq
MIRT1389036	hsa-miR-873	CLIP-seq
MIRT2691991	hsa-miR-885-5p	CLIP-seq
MIRT2632640	hsa-miR-93	CLIP-seq

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	10748169
GO:0005102	Function	Signaling receptor binding	TAS	9668070
GO:0005246	Function	Calcium channel regulator activity	TAS	9668070
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	17215369
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	9268363, 16189514, 17699613, 18330356, 21988832, 25416956, 32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9668070, 16130169
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	10672515
GO:0005829	Component	Cytosol	IDA	10748169
GO:0005886	Component	Plasma membrane	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007165	Process	Signal transduction	TAS	16130169
GO:0010459	Process	Negative regulation of heart rate	IMP	12754254
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010649	Process	Regulation of cell communication by electrical coupling	TAS	17699613
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IDA	17699613
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	IMP	12754254
GO:0016020	Component	Membrane	IDA	10748169, 17130302
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016529	Component	Sarcoplasmic reticulum	TAS	17699613
GO:0030018	Component	Z disc	IDA	12754254
GO:0030018	Component	Z disc	IEA
GO:0030315	Component	T-tubule	TAS	17699613
GO:0031982	Component	Vesicle	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0042584	Component	Chromaffin granule membrane	IDA	9268363
GO:0042802	Function	Identical protein binding	IPI	17699613, 18330356
GO:0044325	Function	Transmembrane transporter binding	TAS	12754254
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	12804766
GO:0051281	Process	Positive regulation of release of sequestered calcium ion into cytosol	IEA
GO:0051281	Process	Positive regulation of release of sequestered calcium ion into cytosol	ISS
GO:0051924	Process	Regulation of calcium ion transport	IMP	12754254, 17130302
GO:0055118	Process	Negative regulation of cardiac muscle contraction	IEA
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0070062	Component	Extracellular exosome	IDA	15326289
GO:0086004	Process	Regulation of cardiac muscle cell contraction	IMP	12754254, 17130302
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	ISS
GO:0140311	Function	Protein sequestering activity	IEA
GO:0140311	Function	Protein sequestering activity	ISS
GO:0140416	Function	Transcription regulator inhibitor activity	IEA
GO:0140416	Function	Transcription regulator inhibitor activity	ISS
GO:1901077	Process	Regulation of relaxation of muscle	IMP	12754254
GO:1901844	Process	Regulation of cell communication by electrical coupling involved in cardiac conduction	IMP	17130302

MIM	HGNC	e!Ensembl
182520	11292	ENSG00000075142

P30626

Protein name

Sorcin (22 kDa protein) (CP-22) (CP22) (V19)

Protein function

Calcium-binding protein that modulates excitation-contraction coupling in the heart. Contributes to calcium homeostasis in the heart sarcoplasmic reticulum. Modulates the activity of RYR2 calcium channels.

PDB

1JUO , 2JC2 , 4U8D , 4UPG , 4USL , 5MRA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13833	EF-hand_8	45 → 102	EF-hand domain pair	Domain
PF13499	EF-hand_7	103 → 163	EF-hand domain pair	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in cardiac myocytes.

Sequence

MAYPGHPGAGGGYYPGGYGGAPGGPAFPGQTQDPLYGYFAAVAGQDGQIDADELQRCLTQ
SGIAGGYKPFNLETCRLMVSMLDRDMSGTMGFNEFKELWAVLNGWRQHFISFDTDRSGTV
DPQELQKALTTMGFRLSPQAVNSIAKRYSTNGKITFDDYIACCVKLRALTDSFRRRDTAQ
QGVVNFPYDDFIQCVMSV

Sequence length

198

Interactions

View interactions

	Reactome
			Stimuli-sensing channels Reduction of cytosolic Ca++ levels Sodium/Calcium exchangers Ion homeostasis Ion transport by P-type ATPases

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 Unknown Diseases (2)

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.
HYPERTROPHIC CARDIOMYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (58)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	31271599		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	8496166		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	19918082, 25812586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	19918082, 25812586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	30216763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	24337682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	30216763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	22326846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	22515980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	27382961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	22052463, 25567655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital neutropenia	Congenital Neutropenia	BEFREE	16584360, 20803142		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	22326846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	31740228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	31624238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31785255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	31309533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18539002, 29873813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	31309533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	37142981	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	30216763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16320026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16320026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	22326846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	22176143		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	30168855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	22515980		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility	Infertility	Pubtator	25405865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	16213583		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	16934756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12408767, 12411058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12526918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28855589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	30571926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	30571926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	27471815, 27672124, 29073347, 29460699, 29563108, 29648686, 30571926, 31190735, 31537547, 31769212		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	30571926		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	8561500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	24337682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21109982, 29262638, 31268161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	30216763		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24013575, 24337682, 28681913, 29108314, 29262638, 31287989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	31624238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26045737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26045737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	24376145		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12195425, 17635577, 19329940, 22621257, 24376145, 28726784, 31287989		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive-Compulsive Disorder	Obsessive-Compulsive Disorder	BEFREE	27659555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	34163033, 35799174	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	24164830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	26456390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	31349831		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	31785255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30680596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	31309533		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21109982, 29262638, 31268161		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31268161, 31585896, 37445803	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	29174767		★★★★★ ★☆☆☆☆ Found in Text Mining only

SRI (sorcin)