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

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 Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy, autophagic vacuolar, infantile-onset	Likely pathogenic	rs397515436	RCV004587609	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myopathy, tubular aggregate, 1	Pathogenic; Likely pathogenic	rs527236030, rs2133226731, rs748277951, rs397515436, rs2498479250, rs2093352256, rs397514675, rs397514676, rs397514677, rs1590688717	RCV000144069 RCV002226987 RCV000169764 RCV003482488 RCV003983756 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (13 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (30)

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.
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONDUCT DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL STRUCTURAL MYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 10	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunodeficiency, common variable, 10	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STIM1-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBULAR AGGREGATE MYOPATHY	—	ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URTICARIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VACUOLAR MYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (285)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15495192, 25428221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	31050811		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	26022158		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	26543234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	24583265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	21547354		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	29704510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	15495192, 25428221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Myeloblastic Leukemia	Myeloblastic Leukemia	BEFREE	15170169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Hepatocellular Carcinoma	Liver carcinoma	BEFREE	24842273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	30088035, 36809524	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	32916960	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	28732182, 30114531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Autoimmune	Autoimmune hemolytic anemia	Pubtator	19420366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhidrosis	Anhidrosis	BEFREE	28027799		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhydrotic Ectodermal Dysplasias	Hypohidrotic ectodermal dysplasia	BEFREE	20189884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	23272049		★★★★★ ★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31119050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	27157464	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	27157464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	21384080, 28369510, 30784343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30335822, 30508140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	24659691, 28656279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	35430405	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	21384080, 28369510, 30784343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	25884983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19420366, 20189884, 21790973, 22129055, 26469693, 28369510, 28537534, 28668213, 29155098, 30322068, 30729671, 30922524, 31360267, 31556856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	19420366, 22190180, 35636153	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune hemolytic anemia	Autoimmune hemolytic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Myotubular Myopathy	Centronuclear Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Centronuclear Myopathy	Centronuclear Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29805557, 30373149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	27222359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	29044968		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	18620092, 24591628, 28624464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	25577287, 29242293, 35636153	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	28767012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	24184575, 25307264		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12586780, 1832273, 19218341, 19739079, 20116857, 21104395, 21224390, 21750172, 23790951, 24842273, 25287073, 25976311, 26022559, 26436206, 26918785 View all (15 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20395295, 26919241, 29414804, 31506588, 37399784	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32820148	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	35812399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27443843, 31366337	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24603752	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27247496	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37806311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28592924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	26241845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30980657		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	20664904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	33802838	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Vasospasm	Cerebral Vasospasm	BEFREE	31541223		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31009360		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	23698468, 24842273, 25976311		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervix carcinoma	Cervix carcinoma	BEFREE	24842273, 25976311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	15495192, 25428221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Hepatocellular Carcinoma	Liver carcinoma	BEFREE	24842273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	19757172		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	28743945, 30453283		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	25814173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	31014395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	29074106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Diseases	Colonic disease	Pubtator	26543234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	25143380	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25381814, 25531324, 26543234, 27486820, 29805557, 30544747		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15754407, 25531324, 26543234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25381814	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	GENOMICS_ENGLAND_DG	26560041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency	Severe combined immunodeficiency disease	BEFREE	27063589, 29155098, 30643259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Combined immunodeficiency due to STIM1 deficiency	Severe combined immunodeficiency disease	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital absence of spleen	Asplenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Structural Myopathy	Congenital Structural Myopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	26241845, 28126709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	27247496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28472932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cough	Cough	Pubtator	35812399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28369510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	21873556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	23071254, 30910863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	31023836		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28668213, 30131394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26584293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28668213, 29846174, 30131394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	22332874	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	30543678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30543678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30131394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	25786776	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	28668213, 30475382		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	22190180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	30373149		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	25577287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	Pubtator	35812399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	26469693, 28732182		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	33650027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	Pubtator	22190180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	BEFREE	9680387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	1532902, 1551100		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	21547354, 30176290, 8918973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28592924		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28449496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28449496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	31843504	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	31843504	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	27601731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31583026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	29957833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23515871, 23578185, 24184575, 28249155, 30099909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	23515871, 32098295	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21945734, 23515871, 23578185, 24184575, 28249155, 30099909		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29747239, 30320350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	29747239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	35812399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	30068697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	30068697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28472932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	23066896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	26775216	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	26241845, 28126709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Howell-Jolly Bodies	Howell-Jolly Bodies	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	19897708		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	28155613, 29846174, 31541223		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypohidrosis	Hypohidrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of iris	Hypoplasia Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	29351410	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	35812399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29607163, 29634284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune dysfunction with T-cell inactivation due to calcium entry defect 2	Immune dysfunction with T-cell inactivation	UNIPROT_DG	19420366, 22190180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune dysfunction with T-cell inactivation due to calcium entry defect 2	Immune dysfunction with T-cell inactivation	BEFREE	20189884, 20876309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune dysfunction with T-cell inactivation due to calcium entry defect 2	Immune dysfunction with T-cell inactivation	GENOMICS_ENGLAND_DG	22190180, 26560041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune dysfunction with T-cell inactivation due to calcium entry defect 2	Immune dysfunction with T-cell inactivation	CLINVAR_DG	24570283, 24591628, 24619930, 25044882, 25577287, 26436962, 28624464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune dysfunction with T-cell inactivation due to calcium entry defect 2	Immune dysfunction with T-cell inactivation	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune dysfunction with T-cell inactivation due to calcium entry defect 2	Immune dysfunction with T-cell inactivation	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	18941110, 24591628, 28727830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	25577287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	25918394		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inflammatory dermatosis	Dermatitis	BEFREE	23071254, 30910863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28544117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	25814173		★★★★★ ★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	29024938		★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	25344858		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24024897, 36404683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15170169, 30340900, 31589170		★★★★★ ★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	29024938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	28494008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24842273, 28559990, 30410942, 30844387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	24114840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	24114840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	27863410		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus	Lupus Erythematosus	BEFREE	31360267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	23497733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	31360267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	23497733, 29148078, 30322068, 30588607, 31360267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30588607, 31360267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	31360267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25531324	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28534934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	20189884, 30910863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	30068697		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Hyperthermia	Malignant hyperthermia	Pubtator	26087026	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	24184575		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12586780, 18559539, 19218341, 19739079, 20116857, 21104395, 21224390, 21750172, 23790951, 24842273, 25287073, 26022559, 26436206, 26918785, 28145580 View all (15 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30176290, 8918973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28449496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	24842273, 30969006		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	27863410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	28494008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29681184, 30072378, 31119050, 31765735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25976311, 26257076, 28348171, 29048678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25872762, 27035326, 27431311, 28534934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18620092, 19185847, 24596417, 24883329, 25344858, 25568918, 26022559, 26055321, 26257076, 26543234, 27035326, 27221886, 27425378, 28241877, 28258690 View all (27 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	24842273, 25976311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	29074106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12060645, 19185847, 28145580, 29857823, 30359738		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25404747, 29274473, 31451482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30814332, 33859736	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30346880, 31226824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild cognitive disorder	Cognitive disorder	BEFREE	28487647		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miosis disorder	Miosis Disorder	BEFREE	25577287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Miosis disorder	Miosis Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31844136	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	24903211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25102945, 28578393, 30114708, 31029779		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	28154173, 28578393, 30114708, 35967396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	21347448, 27801848, 28369510, 29514053, 30208252, 30322068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	30414508		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	25965880, 28095277		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	23790951, 26451068, 28251492, 28270700, 30644090, 30715887, 30848213, 31636733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	29611835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	24591628, 25577287, 25953320, 28372809, 28624464, 30414508, 30421677, 30508734, 30761937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, 1	Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Dominant	Myopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYOPATHY, TUBULAR AGGREGATE, 1	Myopathy	UNIPROT_DG	23332920, 24570283, 25326555, 25953320		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPATHY, TUBULAR AGGREGATE, 1	Myopathy	GENOMICS_ENGLAND_DG	23332920		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MYOPATHY, TUBULAR AGGREGATE, 1	Myopathy	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopia	Myopia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10575208, 12060645, 15145521, 16010412, 21224390, 21945734, 22644306, 23022228, 23108404, 23318455, 23578185, 23757354, 24289103, 24292405, 24818725 View all (38 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	20123987, 21622185, 9680387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12101231, 27425378, 27601731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30088035	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	32118726, 32916960	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	29807219, 31075835, 31636733		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28035396, 31564210, 31600169, 9767613		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28945110, 30346880		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	26549026, 28270510		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29978257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25307264, 28239822, 28326487		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	28326487, 35008585	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25015419, 26584285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29681184, 30072378, 31119050, 31765735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	31119050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24583265	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	31493399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	35636153	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28545724		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32118726	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	26584293	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	30296477		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	35669690	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	28767012, 30053860, 31203176		★★★★★ ★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	15495192, 30208327		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26257076, 28348171, 29048678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25917875, 28866365, 29048678, 37542345	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proximal amyotrophy	Amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Respiratory Tract Infections	Respiratory system infectious disease	Pubtator	35812399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdoid Tumor	Rhabdoid Tumor	BEFREE	10575208, 9377559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	10575208, 27291153, 30093562, 9377559, 9680387		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24702788, 29148078, 31426853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31485279		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	25918394, 26469693, 27063589		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	25918394, 28231751, 29155098, 31816637, 37661687	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe T-cell immunodeficiency	Immunodeficiency	BEFREE	20876309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	27381477	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	23272049	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Spondyloepimetaphyseal dysplasia	Pubtator	19420366	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23022228		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	31843504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28108672, 29063902	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28494008, 30132555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25872762, 27035326, 27431311, 28534934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28534934, 28791370, 33867841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stormorken Syndrome	Stormorken Syndrome	GENOMICS_ENGLAND_DG	23332920, 25577287, 27876257		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stormorken Syndrome	Stormorken Syndrome	CLINVAR_DG	24570283, 24591628, 24619930, 25044882, 25577287, 26436962, 28624464		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stormorken Syndrome	Stormorken Syndrome	BEFREE	24591628, 24619930, 25044882, 25577287, 27876257, 29483506, 30390422, 30576443, 30761937, 31009822, 31831524		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stormorken Syndrome	Stormorken Syndrome	ORPHANET_DG	24591628		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stormorken Syndrome	Stormorken Syndrome	UNIPROT_DG	24591628, 24619930, 25577287		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Stormorken-Sjaastad-Langslet syndrome	Stormorken-Sjaastad-Langslet Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	26087026	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Thrombocytopenia	Pubtator	19420366, 25577287	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	9668102		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26238785, 31480004		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	23108404		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	BEFREE	23332920, 23790951, 24570283, 24591628, 25227914, 25326555, 25577287, 25953320, 26255678, 26469693, 27876257, 28058752, 28251492, 28270700, 28624464 View all (9 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	ORPHANET_DG	23332920		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tubular aggregate myopathy	Tubular Aggregate Myopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	CLINVAR_DG	24570283, 24591628, 24619930, 25044882, 25577287, 26436962		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular Diseases	BEFREE	21786201		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked centronuclear myopathy	Centronuclear Myopathy, X-Linked	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

STIM1 (stromal interaction molecule 1)