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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6786
Gene name Gene Name - the full gene name approved by the HGNC.	Stromal interaction molecule 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	STIM1
Synonyms (NCBI Gene) Gene synonyms aliases	D11S4896E, GOK, IMD10, STRMK, TAM, TAM1
Disease Acronyms (UniProt) Disease acronyms from UniProt database	IMD10, STRMK, TAM1
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p15.4
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by gating of store-operated Ca2+ influx channels (SOCs). It is one of several genes located in the imprinted gene domain of 11p15.5, an

Show/Hide all(18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs140080199	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, 3 prime UTR variant
rs141215990	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs142239530	C>G,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, 3 prime UTR variant
rs201395930	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs397514671	C>T	Pathogenic	Missense variant, coding sequence variant
rs397514675	A>G	Pathogenic	Missense variant, coding sequence variant
rs397514676	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs397514677	A>G	Pathogenic	Missense variant, coding sequence variant
rs397515357	->A	Pathogenic	Coding sequence variant, frameshift variant
rs397515390	G>A	Pathogenic	Splice acceptor variant
rs397515436	C>A	Pathogenic	Missense variant, coding sequence variant
rs483352867	C>T	Pathogenic	Missense variant, coding sequence variant
rs527236030	A>T	Pathogenic	Missense variant, coding sequence variant
rs748277951	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs1057519505	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057519506	T>C	Pathogenic	Missense variant, coding sequence variant
rs1565171115	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1590688717	AACCGTTA>-	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(209)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020653	hsa-miR-155-5p	Proteomics	18668040
MIRT032252	hsa-let-7b-5p	Proteomics	18668040
MIRT050790	hsa-miR-17-3p	CLASH	23622248
MIRT039069	hsa-miR-769-3p	CLASH	23622248
MIRT482791	hsa-miR-6793-3p	PAR-CLIP	23592263
MIRT482790	hsa-miR-4638-5p	PAR-CLIP	23592263
MIRT482789	hsa-miR-6861-5p	PAR-CLIP	23592263
MIRT482788	hsa-miR-6776-5p	PAR-CLIP	23592263
MIRT482787	hsa-miR-1273f	PAR-CLIP	23592263
MIRT482786	hsa-miR-4683	PAR-CLIP	23592263
MIRT482784	hsa-miR-3650	PAR-CLIP	23592263
MIRT482785	hsa-miR-4711-3p	PAR-CLIP	23592263
MIRT482783	hsa-miR-1270	PAR-CLIP	23592263
MIRT482782	hsa-miR-620	PAR-CLIP	23592263
MIRT482781	hsa-miR-1231	PAR-CLIP	23592263
MIRT755444	hsa-miR-185-5p	Luciferase reporter assay	25531324
MIRT731615	ebv-miR-BART1-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	27381477
MIRT731615	ebv-miR-BART1-3p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	27381477
MIRT737215	hsa-miR-223-3p	Microarray, Northern blotting, qRT-PCR	31506588
MIRT482791	hsa-miR-6793-3p	PAR-CLIP	23592263
MIRT482790	hsa-miR-4638-5p	PAR-CLIP	23592263
MIRT482789	hsa-miR-6861-5p	PAR-CLIP	23592263
MIRT482788	hsa-miR-6776-5p	PAR-CLIP	23592263
MIRT482787	hsa-miR-1273f	PAR-CLIP	23592263
MIRT482786	hsa-miR-4683	PAR-CLIP	23592263
MIRT482784	hsa-miR-3650	PAR-CLIP	23592263
MIRT482785	hsa-miR-4711-3p	PAR-CLIP	23592263
MIRT482783	hsa-miR-1270	PAR-CLIP	23592263
MIRT482782	hsa-miR-620	PAR-CLIP	23592263
MIRT482781	hsa-miR-1231	PAR-CLIP	23592263
MIRT755444	hsa-miR-185-5p	Luciferase reporter assay, Western blotting, qRT-PCR	36677874
MIRT1397025	hsa-miR-1293	CLIP-seq
MIRT1397026	hsa-miR-1321	CLIP-seq
MIRT1397027	hsa-miR-1827	CLIP-seq
MIRT1397028	hsa-miR-2117	CLIP-seq
MIRT1397029	hsa-miR-3612	CLIP-seq
MIRT1397030	hsa-miR-3665	CLIP-seq
MIRT1397031	hsa-miR-3921	CLIP-seq
MIRT1397032	hsa-miR-3934	CLIP-seq
MIRT1397033	hsa-miR-4251	CLIP-seq
MIRT1397034	hsa-miR-4260	CLIP-seq
MIRT1397035	hsa-miR-4273	CLIP-seq
MIRT1397036	hsa-miR-4286	CLIP-seq
MIRT1397037	hsa-miR-4329	CLIP-seq
MIRT1397038	hsa-miR-4419a	CLIP-seq
MIRT1397039	hsa-miR-4483	CLIP-seq
MIRT1397040	hsa-miR-4510	CLIP-seq
MIRT1397041	hsa-miR-4640-5p	CLIP-seq
MIRT1397042	hsa-miR-4653-5p	CLIP-seq
MIRT1397043	hsa-miR-4677-5p	CLIP-seq
MIRT1397044	hsa-miR-4726-5p	CLIP-seq
MIRT1397045	hsa-miR-4736	CLIP-seq
MIRT1397046	hsa-miR-4739	CLIP-seq
MIRT1397047	hsa-miR-4756-5p	CLIP-seq
MIRT1397048	hsa-miR-4758-3p	CLIP-seq
MIRT1397049	hsa-miR-580	CLIP-seq
MIRT1397050	hsa-miR-635	CLIP-seq
MIRT1397051	hsa-miR-650	CLIP-seq
MIRT1397052	hsa-miR-940	CLIP-seq
MIRT2118870	hsa-miR-185	CLIP-seq
MIRT2118871	hsa-miR-4306	CLIP-seq
MIRT2118872	hsa-miR-4644	CLIP-seq
MIRT2118873	hsa-miR-516b	CLIP-seq
MIRT2118874	hsa-miR-622	CLIP-seq
MIRT2118875	hsa-miR-939	CLIP-seq
MIRT2341223	hsa-miR-1207-5p	CLIP-seq
MIRT2341224	hsa-miR-15a	CLIP-seq
MIRT2341225	hsa-miR-15b	CLIP-seq
MIRT2341226	hsa-miR-16	CLIP-seq
MIRT2118870	hsa-miR-185	CLIP-seq
MIRT2341227	hsa-miR-195	CLIP-seq
MIRT2341228	hsa-miR-2277-3p	CLIP-seq
MIRT2341229	hsa-miR-3202	CLIP-seq
MIRT2341230	hsa-miR-424	CLIP-seq
MIRT2341231	hsa-miR-4300	CLIP-seq
MIRT2118871	hsa-miR-4306	CLIP-seq
MIRT1397038	hsa-miR-4419a	CLIP-seq
MIRT2341232	hsa-miR-4428	CLIP-seq
MIRT1397040	hsa-miR-4510	CLIP-seq
MIRT2118872	hsa-miR-4644	CLIP-seq
MIRT2341233	hsa-miR-4747-5p	CLIP-seq
MIRT2341234	hsa-miR-4763-3p	CLIP-seq
MIRT2341235	hsa-miR-486-3p	CLIP-seq
MIRT2341236	hsa-miR-497	CLIP-seq
MIRT2341237	hsa-miR-542-3p	CLIP-seq
MIRT2341238	hsa-miR-920	CLIP-seq
MIRT2118875	hsa-miR-939	CLIP-seq
MIRT2341223	hsa-miR-1207-5p	CLIP-seq
MIRT2635094	hsa-miR-1233	CLIP-seq
MIRT2635095	hsa-miR-1295	CLIP-seq
MIRT2635096	hsa-miR-1302	CLIP-seq
MIRT2635097	hsa-miR-1323	CLIP-seq
MIRT2635098	hsa-miR-139-5p	CLIP-seq
MIRT2341224	hsa-miR-15a	CLIP-seq
MIRT2341225	hsa-miR-15b	CLIP-seq
MIRT2341226	hsa-miR-16	CLIP-seq
MIRT1397027	hsa-miR-1827	CLIP-seq
MIRT2635099	hsa-miR-184	CLIP-seq
MIRT2341227	hsa-miR-195	CLIP-seq
MIRT2635100	hsa-miR-1972	CLIP-seq
MIRT2635101	hsa-miR-223	CLIP-seq
MIRT2341228	hsa-miR-2277-3p	CLIP-seq
MIRT2635102	hsa-miR-3122	CLIP-seq
MIRT2635103	hsa-miR-3128	CLIP-seq
MIRT2635104	hsa-miR-3133	CLIP-seq
MIRT2635105	hsa-miR-323-5p	CLIP-seq
MIRT1397029	hsa-miR-3612	CLIP-seq
MIRT2635106	hsa-miR-3613-3p	CLIP-seq
MIRT2635107	hsa-miR-362-5p	CLIP-seq
MIRT2635108	hsa-miR-3662	CLIP-seq
MIRT2635109	hsa-miR-371b-5p	CLIP-seq
MIRT2635110	hsa-miR-3913-5p	CLIP-seq
MIRT2635111	hsa-miR-3943	CLIP-seq
MIRT2341230	hsa-miR-424	CLIP-seq
MIRT2635112	hsa-miR-4277	CLIP-seq
MIRT2635113	hsa-miR-4298	CLIP-seq
MIRT2635114	hsa-miR-4323	CLIP-seq
MIRT2635115	hsa-miR-4425	CLIP-seq
MIRT2635116	hsa-miR-4436b-3p	CLIP-seq
MIRT2635117	hsa-miR-4514	CLIP-seq
MIRT2635118	hsa-miR-4641	CLIP-seq
MIRT2635119	hsa-miR-4642	CLIP-seq
MIRT2635120	hsa-miR-4690-3p	CLIP-seq
MIRT2635121	hsa-miR-4692	CLIP-seq
MIRT2635122	hsa-miR-4720-5p	CLIP-seq
MIRT2635123	hsa-miR-4747-3p	CLIP-seq
MIRT2341234	hsa-miR-4763-3p	CLIP-seq
MIRT2635124	hsa-miR-4799-3p	CLIP-seq
MIRT2635125	hsa-miR-495	CLIP-seq
MIRT2341236	hsa-miR-497	CLIP-seq
MIRT2635126	hsa-miR-500b	CLIP-seq
MIRT2635127	hsa-miR-502-5p	CLIP-seq
MIRT2118873	hsa-miR-516b	CLIP-seq
MIRT2635128	hsa-miR-548a-3p	CLIP-seq
MIRT2635129	hsa-miR-548e	CLIP-seq
MIRT2635130	hsa-miR-548f	CLIP-seq
MIRT2635131	hsa-miR-548o	CLIP-seq
MIRT2635132	hsa-miR-582-5p	CLIP-seq
MIRT2118874	hsa-miR-622	CLIP-seq
MIRT1397051	hsa-miR-650	CLIP-seq
MIRT2635133	hsa-miR-876-3p	CLIP-seq
MIRT2635134	hsa-miR-922	CLIP-seq
MIRT2635135	hsa-miR-935	CLIP-seq
MIRT1397052	hsa-miR-940	CLIP-seq
MIRT2341223	hsa-miR-1207-5p	CLIP-seq
MIRT2692219	hsa-miR-1252	CLIP-seq
MIRT2692220	hsa-miR-1255a	CLIP-seq
MIRT2692221	hsa-miR-1255b	CLIP-seq
MIRT2635095	hsa-miR-1295	CLIP-seq
MIRT2635096	hsa-miR-1302	CLIP-seq
MIRT2635097	hsa-miR-1323	CLIP-seq
MIRT2635098	hsa-miR-139-5p	CLIP-seq
MIRT2692222	hsa-miR-150	CLIP-seq
MIRT2341224	hsa-miR-15a	CLIP-seq
MIRT2341225	hsa-miR-15b	CLIP-seq
MIRT2341226	hsa-miR-16	CLIP-seq
MIRT1397027	hsa-miR-1827	CLIP-seq
MIRT2635099	hsa-miR-184	CLIP-seq
MIRT2341227	hsa-miR-195	CLIP-seq
MIRT2635100	hsa-miR-1972	CLIP-seq
MIRT2635101	hsa-miR-223	CLIP-seq
MIRT2341228	hsa-miR-2277-3p	CLIP-seq
MIRT2635102	hsa-miR-3122	CLIP-seq
MIRT2635103	hsa-miR-3128	CLIP-seq
MIRT2635104	hsa-miR-3133	CLIP-seq
MIRT2692223	hsa-miR-3184	CLIP-seq
MIRT2635105	hsa-miR-323-5p	CLIP-seq
MIRT1397029	hsa-miR-3612	CLIP-seq
MIRT2635106	hsa-miR-3613-3p	CLIP-seq
MIRT2635107	hsa-miR-362-5p	CLIP-seq
MIRT2635108	hsa-miR-3662	CLIP-seq
MIRT2635109	hsa-miR-371b-5p	CLIP-seq
MIRT2635110	hsa-miR-3913-5p	CLIP-seq
MIRT2635111	hsa-miR-3943	CLIP-seq
MIRT2341230	hsa-miR-424	CLIP-seq
MIRT2635112	hsa-miR-4277	CLIP-seq
MIRT2635113	hsa-miR-4298	CLIP-seq
MIRT2635114	hsa-miR-4323	CLIP-seq
MIRT2635115	hsa-miR-4425	CLIP-seq
MIRT2635116	hsa-miR-4436b-3p	CLIP-seq
MIRT2635117	hsa-miR-4514	CLIP-seq
MIRT2635118	hsa-miR-4641	CLIP-seq
MIRT2635119	hsa-miR-4642	CLIP-seq
MIRT2635120	hsa-miR-4690-3p	CLIP-seq
MIRT2635121	hsa-miR-4692	CLIP-seq
MIRT2692224	hsa-miR-4713-5p	CLIP-seq
MIRT2635122	hsa-miR-4720-5p	CLIP-seq
MIRT1397045	hsa-miR-4736	CLIP-seq
MIRT2635123	hsa-miR-4747-3p	CLIP-seq
MIRT2341234	hsa-miR-4763-3p	CLIP-seq
MIRT2635124	hsa-miR-4799-3p	CLIP-seq
MIRT2341235	hsa-miR-486-3p	CLIP-seq
MIRT2635125	hsa-miR-495	CLIP-seq
MIRT2341236	hsa-miR-497	CLIP-seq
MIRT2635126	hsa-miR-500b	CLIP-seq
MIRT2635127	hsa-miR-502-5p	CLIP-seq
MIRT2692225	hsa-miR-532-3p	CLIP-seq
MIRT2635128	hsa-miR-548a-3p	CLIP-seq
MIRT2635129	hsa-miR-548e	CLIP-seq
MIRT2635130	hsa-miR-548f	CLIP-seq
MIRT2635131	hsa-miR-548o	CLIP-seq
MIRT2635132	hsa-miR-582-5p	CLIP-seq
MIRT2118874	hsa-miR-622	CLIP-seq
MIRT1397051	hsa-miR-650	CLIP-seq
MIRT2692226	hsa-miR-711	CLIP-seq
MIRT2635133	hsa-miR-876-3p	CLIP-seq
MIRT2635134	hsa-miR-922	CLIP-seq
MIRT2635135	hsa-miR-935	CLIP-seq
MIRT1397052	hsa-miR-940	CLIP-seq

Transcription factors

Show/Hide all(3)

Transcription factor	Regulation	Reference
AR	Unknown	21432868
EGR1	Activation	20123987
WT1	Repression	20123987

Show/Hide all(33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	25384971
GO:0002115	Process	Store-operated calcium entry	IBA	21873635
GO:0002115	Process	Store-operated calcium entry	IDA	28219928
GO:0005246	Function	Calcium channel regulator activity	IBA	21873635
GO:0005246	Function	Calcium channel regulator activity	IDA	25326555, 26322679
GO:0005246	Function	Calcium channel regulator activity	IGI	31009446
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005509	Function	Calcium ion binding	IDA	16005298
GO:0005513	Process	Detection of calcium ion	IDA	16005298
GO:0005515	Function	Protein binding	IPI	11463338, 17905723, 18484746, 19249086, 19632184, 19706554, 19897728, 20418871, 21408196, 21427704, 21876174, 21941299, 22451904, 22464749, 22494970, 22586105, 24954132, 24996186, 25996873, 26322679, 27185316, 28219928, 28514442, 30481768, 32296183, 32814053
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	27185316
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	IDA	19171672, 27185316
GO:0005887	Component	Integral component of plasma membrane	IDA	16208375, 28219928
GO:0006874	Process	Cellular calcium ion homeostasis	IBA	21873635
GO:0030176	Component	Integral component of endoplasmic reticulum membrane	IDA	16208375, 22586105
GO:0032237	Process	Activation of store-operated calcium channel activity	IBA	21873635
GO:0032237	Process	Activation of store-operated calcium channel activity	IDA	16005298, 26322679, 28219928
GO:0032541	Component	Cortical endoplasmic reticulum	IDA	22586105
GO:0032541	Component	Cortical endoplasmic reticulum	TAS	26322679
GO:0033017	Component	Sarcoplasmic reticulum membrane	IDA	25326555
GO:0042802	Function	Identical protein binding	IPI	17517596, 19249086, 20418871, 21427704, 22451904, 24996186
GO:0044853	Component	Plasma membrane raft	IDA	19171672
GO:0045762	Process	Positive regulation of adenylate cyclase activity	IDA	19171672
GO:0045766	Process	Positive regulation of angiogenesis	IMP	26694763
GO:0051010	Function	Microtubule plus-end binding	IDA	19632184
GO:0051924	Process	Regulation of calcium ion transport	IDA	16005298
GO:0070166	Process	Enamel mineralization	IMP	24621671
GO:1903779	Process	Regulation of cardiac conduction	TAS
GO:2001256	Process	Regulation of store-operated calcium entry	IMP	23332920

MIM	HGNC	e!Ensembl
605921	11386	ENSG00000167323

Protein

UniProt ID

Q13586

Protein name

Stromal interaction molecule 1

Protein function

Acts as a Ca(2+) sensor that gates two major inward rectifying Ca(2+) channels at the plasma membrane: Ca(2+) release-activated Ca(2+) (CRAC) channels and arachidonate-regulated Ca(2+)-selective (ARC) channels (PubMed:15866891, PubMed:16005298,

PDB

2K60 , 2MAJ , 2MAK , 3TEQ , 4O9B , 6YEL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07647	SAM_2	129 → 197	SAM domain (Sterile alpha motif)	Domain
PF16533	SOAR	341 → 441	STIM1 Orai1-activating region	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed in various human primary cells and tumor cell lines. {ECO:0000269|PubMed:11004585, ECO:0000269|PubMed:11463338}.

Sequence

MDVCVRLALWLLWGLLLHQGQSLSHSHSEKATGTSSGANSEESTAAEFCRIDKPLCHSED
EKLSFEAVRNIHKLMDDDANGDVDVEESDEFLREDLNYHDPTVKHSTFHGEDKLISVEDL
WKAWKSSEVYNWTVDEVVQWLITYVELPQYEETFRKLQLSGHAMPRLAVTNTTMTGTVLK
MTDRSHRQKLQLKALDTVLFGPPLLTRHNHLKDFMLVVSIVIGVGGCWFAYIQNRYSKEH
MKKMMKDLEGLHRAEQSLHDLQERLHKAQEEHRTVEVEKVHLEKKLRDEINLAKQEAQRL
KELREGTENERSRQKYAEEELEQVREALRKAEKELESHSSWYAPEALQKWLQLTHEVEVQ
YYNIKKQNAEKQLLVAKEGAEKIKKKRNTLFGTFHVAHSSSLDDVDHKILTAKQALSEVT
AALRERLHRWQQIEILCGFQIVNNPGIHSLVAALNIDPSWMGSTRPNPAHFIMTDDVDDM
DEEIVSPLSMQSPSLQSSVRQRLTEPQHGLGSQRDLTHSDSESSLHMSDRQRVAPKPPQM
SRAADEALNAMTSNGSHRLIEGVHPGSLVEKLPDSPALAKKALLALNHGLDKAHSLMELS
PSAPPGGSPHLDSSRSHSPSSPDPDTPSPVGDSRALQASRNTRIPHLAGKKAVAEEDNGS
IGEETDSSPGRKKFPLKIFKKPLKK

Sequence length

685

Interactions

View interactions

	KEGG		Reactome
	Calcium signaling pathway Platelet activation		Ion homeostasis Antigen activates B Cell Receptor (BCR) leading to generation of second messengers

Show/Hide Causal Diseases (17)

Disease term	Disease name	dbSNP ID	References
Causal
Amelogenesis imperfecta	Amelogenesis Imperfecta	rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489 View all (70 more)
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	19565504
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Centronuclear myopathy	Centronuclear myopathy, Autosomal Recessive Centronuclear Myopathy, Autosomal Dominant Myotubular Myopathy	rs80356529, rs121909089, rs121909090, rs121909091, rs121909092, rs121909095, rs132630304, rs587783791, rs397518445, rs132630306, rs122458143, rs587783594, rs587783595, rs587783597, rs587783598 View all (25 more)
Congenital myopathy with fiber type disproportion	Congenital Fiber Type Disproportion	rs121908184, rs121908188, rs121964853, rs121964854, rs121909529, rs121909531, rs367543058, rs118192117, rs143849895, rs367543055, rs367543049, rs367543048, rs118192178, rs193922810, rs587783772 View all (11 more)
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Hypertension	Hypertensive disease	rs13306026	19897708
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	27863410
Migraine	Migraine Disorders	rs794727411
Myopathy	Myopathy, Myopathy, Centronuclear, Autosomal Dominant, MYOPATHY, TUBULAR AGGREGATE, 1, Myopathy, Centronuclear, 1	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166 View all (81 more)	23332920, 25953320, 24570283, 25326555
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137
Severe combined immunodeficiency disease	Combined immunodeficiency, Combined immunodeficiency due to STIM1 deficiency	rs886037607, rs118203993, rs121908714, rs121908739, rs121908740, rs121908735, rs121908721, rs121908722, rs121908156, rs1564414523, rs1564418254, rs1564446526, rs786205074, rs121908157, rs121908159 View all (197 more)	26560041
Stormorken syndrome	Stormorken Syndrome	rs483352867, rs527236030	25044882, 25577287, 24591628, 23332920, 28624464, 24619930, 26436962, 27876257, 24570283
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (7)

Disease term	Disease name	Source
Unknown
Stormorken Syndrome	Stormorken syndrome	GenCC
Tubular Aggregate Myopathy	tubular aggregate myopathy	GenCC
Eosinophilia	Eosinophilia	GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus	GWAS
Urolithiasis	Urolithiasis	GWAS
Urticaria	Urticaria	GWAS
Atrial Fibrillation	Atrial Fibrillation	GWAS

Show/Hide Text Mining Associations (102)

Disease Name	Relationship Type	References
Associations from Text Mining
Adenocarcinoma	Associate	26543234
Alzheimer Disease	Associate	30088035, 36809524
Alzheimer Disease	Inhibit	32916960
Anemia Hemolytic Autoimmune	Associate	19420366
Aortic Aneurysm Abdominal	Associate	27157464
Asthma	Associate	35430405
Atherosclerosis	Associate	25884983
Autoimmune Diseases	Associate	19420366, 22190180, 35636153
Blood Platelet Disorders	Associate	25577287, 29242293, 35636153
Breast Neoplasms	Associate	20395295, 26919241, 29414804, 31506588, 37399784
Bronchiectasis	Associate	35812399
Carcinoma Hepatocellular	Associate	27443843, 31366337
Carcinoma Renal Cell	Stimulate	24603752
Carcinoma Renal Cell	Associate	27247496
Cartilage Diseases	Associate	33802838
Channelopathies	Associate	25577287
Colonic Diseases	Associate	26543234
Colonic Neoplasms	Stimulate	25143380
Colorectal Neoplasms	Stimulate	25381814
Colorectal Neoplasms	Associate	25531324, 26543234
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	35636153
Cough	Associate	35812399
COVID 19	Associate	35636153, 39376569
Cystic Fibrosis	Associate	21873556
Cytomegalovirus Infections	Associate	22190180
Diabetes Mellitus	Associate	26584293
Diabetes Mellitus Type 1	Inhibit	22332874
Diabetes Mellitus Type 1	Associate	30543678
Diabetic Nephropathies	Associate	25786776
Diarrhea	Associate	22190180
Disease	Associate	35812399
Disease Resistance	Associate	33907089
Distal myopathy Nonaka type	Associate	25577287
Dykes Markes Harper syndrome	Associate	19420366
Dyslexia	Associate	35812399
Ectodermal Dysplasia	Associate	33650027
Eczema	Associate	22190180
Epstein Barr Virus Infections	Associate	22190180
Esophageal Neoplasms	Stimulate	31843504
Esophageal Squamous Cell Carcinoma	Associate	31843504
Fasciculation	Associate	31844136
Glioblastoma	Associate	23515871, 32098295
Glioma	Associate	29747239
Growth Disorders	Associate	35812399
Head and Neck Neoplasms	Associate	30068697
Heart Defects Congenital	Associate	28472932
Heart Diseases	Associate	26775216
Hyperphosphatemia	Associate	33804889
Hypertension Pregnancy Induced	Associate	26775216
Hypoxia	Stimulate	29351410
Ichthyosis	Associate	35812399
Immune System Diseases	Associate	25577287
Immunologic Deficiency Syndromes	Associate	19420366, 22190180, 25918394, 29242293, 32916960
Inflammation	Associate	32275470
Leukemia Lymphocytic Chronic B Cell	Associate	31014395
Leukemia Myeloid Acute	Associate	24024897, 36404683
Lung Diseases	Associate	24114840
Lymphatic Metastasis	Stimulate	25531324
Lymphatic Metastasis	Associate	28534934
Male pseudohermaphroditism due to defective LH molecule	Inhibit	22190180
Malformations of Cortical Development Group I	Associate	22144678
Malignant Hyperthermia	Associate	26087026
Melanoma	Associate	30814332, 33859736
Miosis	Associate	25577287, 35812399
Mitochondrial Diseases	Associate	31844136
Mucocutaneous Lymph Node Syndrome	Associate	24903211
Multiple Myeloma	Associate	28578393, 30114708
Muscle Hypotonia	Associate	19420366, 31844136, 33650027, 37661687
Muscle Weakness	Associate	35812399
Muscular Diseases	Associate	25577287, 34908252, 35812399, 37155641
Muscular dystrophy congenital with central nervous system involvement	Associate	37661687
Myopathies Structural Congenital	Associate	25577287, 26255678, 28231751, 32575830, 35636153, 35792400, 35812399, 37155641
Neoplasm Metastasis	Associate	25381814, 33795653, 34016053, 35008585, 35045297, 37542345
Neoplasm Metastasis	Stimulate	25531324
Neoplasms	Associate	25143380, 25531324, 26543234, 28108672, 28326487, 29747239, 31366337, 31697806, 31843504, 32098295, 32916960, 33859736, 35636153, 35655316, 40362663
Neoplasms	Stimulate	35008585
Neoplasms Glandular and Epithelial	Associate	18337467
Neuroacanthocytosis	Associate	28743945, 30453283
Neurodegenerative Diseases	Inhibit	30088035
Neurodegenerative Diseases	Associate	32118726, 32916960
Osteosarcoma	Associate	28326487, 35008585
Ovarian Neoplasms	Associate	25015419, 26584285
Pancreatic Neoplasms	Associate	24583265
Pancreatitis	Associate	35636153
Parkinson Disease	Associate	32118726
Peripheral Arterial Disease	Associate	26584293
Pigmentation Disorders	Associate	36356899
Polycystic Ovary Syndrome	Stimulate	35669690
Primary Myelofibrosis	Associate	24603752
Prostatic Neoplasms	Associate	25917875, 28866365, 29048678, 37542345
Prune Belly Syndrome	Associate	29174092
Rectal Neoplasms	Associate	26543234
Respiratory Tract Infections	Associate	35812399
Severe Combined Immunodeficiency	Associate	25918394, 28231751, 29155098, 31816637, 37661687
Sjogren's Syndrome	Associate	27381477
Spondylitis Ankylosing	Associate	23272049
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Associate	19420366
Squamous Cell Carcinoma of Head and Neck	Associate	28108672, 29063902
Stomach Neoplasms	Associate	28534934, 33867841
Stormorken Syndrome	Associate	25577287, 29483506, 33106661, 35636153, 35812399
Tachycardia Ventricular	Associate	26087026
Thrombocytopenia	Associate	19420366, 25577287

STIM1 (stromal interaction molecule 1)