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STIM1 (stromal interaction molecule 1)

Gene

6786

Stromal interaction molecule 1

STIM1

D11S4896E, GOK, IMD10, STRMK, TAM, TAM1

11p15.4

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

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

Associated diseases

Show/Hide Causal Diseases (17)

Causal
Disease name	Disease term	dbSNP ID	References
Amelogenesis imperfecta	Amelogenesis Imperfecta	rs267607178, rs143816093, rs606231351, rs137854435, rs137854440, rs137854441, rs137854444, rs587776587, rs121908109, rs587776588, rs140213840, rs104894704, rs387906487, rs387906488, rs387906489, rs104894733, rs104894734, rs104894736, rs387906490, rs387906491, rs104894737, rs104894738, rs144411158, rs587776911, rs587776912, rs587776913, rs587776914, rs387907215, rs866941536, rs1560562738, rs1560562630, rs146645381, rs1560558455, rs587777515, rs587777516, rs587777530, rs139620139, rs587777531, rs587777535, rs587777536, rs587777537, rs606231462, rs1553275034, rs869320671, rs786201004, rs140015315, rs730882118, rs730880297, rs730880298, rs786204825, rs786204826, rs1555409827, rs1057517671, rs1057517672, rs556734208, rs146238585, rs202073531, rs1057519277, rs767907487, rs779823931, rs1060499539, rs1085307111, rs546603773, rs1553275070, rs1553275195, rs752102959, rs1554623490, rs1553888384, rs770804941, rs1553887511, rs557128345, rs1568724130, rs199527325, rs1603038146, rs773117913, rs1560973571, rs1560782372, rs1560980659, rs1560973467, rs772929908, rs762816338, rs1565222166, rs1595312054, rs1866200282, rs2086254952
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
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, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
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, rs587783832, rs587783838, rs587783841, rs587783771, rs587783772, rs587783781, rs574660186, rs794729338, rs587783752, rs878854372, rs926741242, rs1293675104, rs768407867, rs773598203, rs1555715869, rs781933660, rs1332371891, rs756870293, rs1568454672, rs1600843056, rs866050664, rs2093158866, rs776252106, rs756847750, rs2070649864
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, rs2754158, rs727503263, rs797045950, rs886041686, rs1557813850, rs1057518940, rs1060505018, rs1566521710, rs1558081664, rs778603129, rs1475149579
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Hypertension	Hypertensive disease	rs13306026, rs13333226	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, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338	23332920, 25953320, 24570283, 25326555
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
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, rs786200884, rs397515357, rs104894562, rs137852624, rs137852625, rs137852626, rs137852627, rs137852507, rs137852509, rs111033619, rs111033620, rs1569480018, rs111033621, rs137852510, rs587776729, rs111033622, rs111033617, rs111033618, rs121917894, rs121917896, rs2133313409, rs121917897, rs28933392, rs104894282, rs104894283, rs104894285, rs121918570, rs121918572, rs730880318, rs104893674, rs730880319, rs104894453, rs104894454, rs104894451, rs137853206, rs777503956, rs267606645, rs267606648, rs397515390, rs193922346, rs193922347, rs193922348, rs193922349, rs193922350, rs137852508, rs193922640, rs193922641, rs193922643, rs193922645, rs193922361, rs193922364, rs193922464, rs148508754, rs193922574, rs113994174, rs606231246, rs397514671, rs397514686, rs397514755, rs199474679, rs199474685, rs199474686, rs199474681, rs150739647, rs267605358, rs886041036, rs587777335, rs587778405, rs145092287, rs587777562, rs606231256, rs200296680, rs786205456, rs786205517, rs774202259, rs786205615, rs878853261, rs786205890, rs782753385, rs746052951, rs869025224, rs869312857, rs869320660, rs869320659, rs869320658, rs879253742, rs886037924, rs886037925, rs750610248, rs886039394, rs761242509, rs886039387, rs886041043, rs886041044, rs886042051, rs886041333, rs749481781, rs1057517747, rs1057519506, rs1057523762, rs1057521062, rs1057520644, rs761583890, rs751635016, rs55729925, rs1064793248, rs1064793347, rs1064794027, rs781410769, rs1555524788, rs1486760100, rs769633203, rs1556330713, rs1555322558, rs1556330234, rs1556330755, rs1556329779, rs1556330552, rs1556329822, rs1556330286, rs1556331272, rs2146178281, rs376610445, rs757797994, rs775704953, rs1555743321, rs1564995660, rs1564995662, rs1556330249, rs144104577, rs886041796, rs1026474882, rs570768621, rs1556330562, rs1556330568, rs780014431, rs778343059, rs1555844617, rs1567629968, rs1567628757, rs1567629943, rs1567632864, rs1567632829, rs1567626023, rs1559328006, rs1561423197, rs1452483770, rs1568400897, rs1569479913, rs1568404443, rs1569480047, rs1563340753, rs368303189, rs1568431262, rs1568431102, rs1561424886, rs1602289943, rs1241698978, rs1569479994, rs1569480082, rs1602289649, rs1573261820, rs770985198, rs1589050343, rs1340132582, rs1589064324, rs1589070600, rs1213680890, rs149316157, rs1599873591, rs755706305, rs1602288051, rs1602289411, rs1602289183, rs1583513256, rs1589136659, rs1380154594, rs1011307501, rs1599876167, rs1569967422, rs1602289631, rs1573262398, rs760191638, rs1592117677, rs1640406042, rs372597855, rs1839558393, rs1839622622, rs1839957089, rs777008519, rs1233957241, rs2092261618, rs1839255008, rs1677695565, rs936493226, rs1162344514, rs991089005	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 (26)

Unknown
Disease name	Disease term	dbSNP ID	References
Amyotrophy	Proximal amyotrophy
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia
Centronuclear myopathy, x-linked	X-linked centronuclear myopathy
Asplenia	Congenital absence of spleen
Congenital structural myopathy	Congenital Structural Myopathy
Dwarfism	Dwarfism
Dyslexia	Dyslexia
Esotropia	Esotropia
Howell-jolly bodies	Howell-Jolly Bodies
Hypohidrosis	Hypohidrosis
Hypoplasia of corpus callosum	Hypoplasia of corpus callosum
Hypoplasia of iris	Hypoplasia of iris
Immune dysfunction with t-cell inactivation	Immune dysfunction with T-cell inactivation due to calcium entry defect 2		19420366, 25044882, 22190180, 26436962, 26560041, 24591628, 28624464, 24570283, 25577287, 24619930
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Juvenile arthritis	Juvenile psoriatic arthritis		19565504
Lung neoplasms	Lung Neoplasms		27863410
Miosis disorder	Miosis disorder
Nail diseases	NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9
Nail dysplasia	Nail dysplasia
Seronegative polyarthritis	Polyarthritis, Juvenile, Rheumatoid Factor Negative		19565504
Polyarthritis, rheumatoid factor positive	Polyarthritis, Juvenile, Rheumatoid Factor Positive		19565504
Pulmonary stenosis	Pulmonary Stenosis
Speech disorders	Speech Disorders
Still disease	Juvenile-Onset Still Disease		19565504
Stormorken-sjaastad-langslet syndrome	Stormorken-Sjaastad-Langslet syndrome
Tubular aggregate myopathy	Tubular Aggregate Myopathy		24591628, 25044882, 24619930, 23332920, 24570283, 25577287, 26436962

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