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	6786
Gene name	Stromal interaction molecule 1
Gene symbol	STIM1
Synonyms (NCBI Gene)	D11S4896EGOKIMD10STRMKTAMTAM1
Chromosome	11
Chromosome location	11p15.4
Summary	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

209

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	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot	27381477
MIRT731615	ebv-miR-BART1-3p	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blot	27381477
MIRT737215	hsa-miR-223-3p	MicroarrayNorthern blottingqRT-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 assayWestern blottingqRT-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

Show/Hide all (3)

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

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	25384971
GO:0002115	Process	Store-operated calcium entry	IBA
GO:0002115	Process	Store-operated calcium entry	IDA	19182790, 28219928
GO:0005246	Function	Calcium channel regulator activity	IBA
GO:0005246	Function	Calcium channel regulator activity	IDA	25326555, 26322679
GO:0005246	Function	Calcium channel regulator activity	IEA
GO:0005246	Function	Calcium channel regulator activity	IGI	31009446
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	16005298
GO:0005509	Function	Calcium ion binding	IEA
GO:0005513	Process	Detection of calcium ion	IDA	16005298
GO:0005515	Function	Protein binding	IPI	11463338, 17905723, 18484746, 19182790, 19249086, 19632184, 19706554, 19897728, 20418871, 21408196, 21427704, 21876174, 21941299, 22451904, 22464749, 22494970, 22586105, 24954132, 24996186, 25996873, 26322679, 27185316, 28219928, 28514442, 30194290, 30481768, 32296183, 32415068, 328
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	27185316
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16208375, 22586105
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	16208375, 19171672, 27185316, 28219928
GO:0005886	Component	Plasma membrane	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IBA
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
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:0046872	Function	Metal ion binding	IEA
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:2001256	Process	Regulation of store-operated calcium entry	IMP	23332920

MIM	HGNC	e!Ensembl
605921	11386	ENSG00000167323

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

2011

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Combined immunodeficiency due to STIM1 deficiency	Pathogenic; Likely pathogenic	rs483352867, rs2133083597, rs2135736648, rs2135736277, rs2133224258, rs751733169, rs527236030, rs748277951, rs397515357, rs2497423187, rs2498405398, rs2498502151, rs2498479376, rs1057519506, rs397515390 View all (4 more)	RCV000850608 RCV001998195 RCV001891483 RCV002037722 RCV001956050 RCV001907839 RCV000537798 RCV001068304 RCV000004976 RCV002857341 RCV003013497 RCV003005802 RCV003787030 RCV000416560 RCV000023497 RCV000034350 RCV000814240 RCV000693508 RCV002233886
Myopathy with tubular aggregates	Pathogenic; Likely pathogenic	rs483352867, rs2133083597, rs2135736648, rs2135736277, rs2133224258, rs751733169, rs527236030, rs748277951, rs2497423187, rs2498405398, rs2498502151, rs2498479376, rs2497906029, rs397514671, rs397514675 View all (3 more)	RCV002228364 RCV001998195 RCV001891483 RCV002037722 RCV001956050 RCV001907839 RCV000537798 RCV001068304 RCV002857341 RCV003013497 RCV003005802 RCV003787030 RCV004587608 RCV001061682 RCV004586032 RCV000814240 RCV000693508 RCV002233886
Myopathy, autophagic vacuolar, infantile-onset	Likely pathogenic	rs397515436	RCV004587609
Myopathy, tubular aggregate, 1	Pathogenic; Likely pathogenic	rs527236030, rs2133226731, rs748277951, rs397515436, rs2498479250, rs2093352256, rs397514675, rs397514676, rs397514677, rs1590688717	RCV000144069 RCV002226987 RCV000169764 RCV003482488 RCV003983756 RCV004556138 RCV000034365 RCV000034366 RCV000034367 RCV003483726
Stormorken syndrome	Pathogenic; Likely pathogenic	rs483352867, rs2133083597, rs2135736648, rs2135736277, rs2133224258, rs751733169, rs527236030, rs2498275012, rs748277951, rs2497423187, rs2498405398, rs2498502151, rs397514675, rs2498479376, rs397514671 View all (3 more)	RCV000128580 RCV001998195 RCV001891483 RCV002037722 RCV001956050 RCV001907839 RCV000169763 RCV002280957 RCV001068304 RCV002857341 RCV003013497 RCV003005802 RCV003234948 RCV003787030 RCV001061682 RCV000814240 RCV000693508 RCV002233886

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Conflicting classifications of pathogenicity	rs118128831	RCV005897344
Cervical cancer	Conflicting classifications of pathogenicity	rs118128831	RCV005897346
Cholangiocarcinoma	Conflicting classifications of pathogenicity	rs200528985	RCV005934910
Immunodeficiency, common variable, 10	Uncertain significance	rs751520286	RCV003339603
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs118128831	RCV005897345
Migraine	Uncertain significance	rs1554971682	RCV000626792
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs118128831	RCV005897348
Sarcoma	Conflicting classifications of pathogenicity	rs118128831	RCV005897347
STIM1-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	rs376050145, rs536528954, rs140997213, rs780488492, rs2094314118, rs751364519, rs767768485, rs200996329, rs746854219, rs1161943430, rs141215990, rs893886813, rs2498541554, rs2498547908, rs752075574 View all (14 more)	RCV003416268 RCV003953717 RCV003973246 RCV004749693 RCV003401703 RCV004749757 RCV003971123 RCV003895783 RCV003960985 RCV003919011 RCV003891799 RCV003399663 RCV003400200 RCV003982649 RCV003904522 RCV003969278 RCV003925620 RCV003935432 RCV003935431 RCV003928006 RCV003945462 RCV003928071 RCV003953126 RCV003918253 RCV003938343 RCV003955749 RCV003903251 RCV003973145 RCV003414035

Show/Hide Text Mining Associations (102)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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)