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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23293
Gene name	SMG6 nonsense mediated mRNA decay factor
Gene symbol	SMG6
Synonyms (NCBI Gene)	C17orf31EST1ASMG-6hEST1AhSMG5/7a
Chromosome	17
Chromosome location	17p13.3
Summary	This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclea

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029580	hsa-miR-26b-5p	Microarray	19088304
MIRT048902	hsa-miR-93-5p	CLASH	23622248
MIRT045363	hsa-miR-185-5p	CLASH	23622248
MIRT043517	hsa-miR-331-3p	CLASH	23622248
MIRT1373489	hsa-miR-139-3p	CLIP-seq
MIRT1373490	hsa-miR-149	CLIP-seq
MIRT1373491	hsa-miR-3929	CLIP-seq
MIRT1373492	hsa-miR-4419a	CLIP-seq
MIRT1373493	hsa-miR-4419b	CLIP-seq
MIRT1373494	hsa-miR-4478	CLIP-seq
MIRT1373495	hsa-miR-4510	CLIP-seq
MIRT1373496	hsa-miR-4723-5p	CLIP-seq
MIRT1373497	hsa-miR-4728-5p	CLIP-seq
MIRT1373498	hsa-miR-4749-3p	CLIP-seq
MIRT1373499	hsa-miR-483-5p	CLIP-seq
MIRT2111191	hsa-miR-1200	CLIP-seq
MIRT2111192	hsa-miR-1206	CLIP-seq
MIRT2111193	hsa-miR-1264	CLIP-seq
MIRT2111194	hsa-miR-1915	CLIP-seq
MIRT2111195	hsa-miR-24	CLIP-seq
MIRT2111196	hsa-miR-3074-5p	CLIP-seq
MIRT2111197	hsa-miR-3125	CLIP-seq
MIRT2111198	hsa-miR-3126-5p	CLIP-seq
MIRT2111199	hsa-miR-3140-5p	CLIP-seq
MIRT2111200	hsa-miR-3165	CLIP-seq
MIRT2111201	hsa-miR-3191	CLIP-seq
MIRT2111202	hsa-miR-3622a-5p	CLIP-seq
MIRT2111203	hsa-miR-3916	CLIP-seq
MIRT2111204	hsa-miR-4269	CLIP-seq
MIRT2111205	hsa-miR-4270	CLIP-seq
MIRT2111206	hsa-miR-4284	CLIP-seq
MIRT2111207	hsa-miR-4441	CLIP-seq
MIRT2111208	hsa-miR-4446-3p	CLIP-seq
MIRT2111209	hsa-miR-4447	CLIP-seq
MIRT2111210	hsa-miR-4472	CLIP-seq
MIRT2111211	hsa-miR-4488	CLIP-seq
MIRT2111212	hsa-miR-4514	CLIP-seq
MIRT2111213	hsa-miR-4650-3p	CLIP-seq
MIRT2111214	hsa-miR-4667-5p	CLIP-seq
MIRT2111215	hsa-miR-4685-5p	CLIP-seq
MIRT2111216	hsa-miR-4692	CLIP-seq
MIRT2111217	hsa-miR-4697-5p	CLIP-seq
MIRT2111218	hsa-miR-4700-5p	CLIP-seq
MIRT2111219	hsa-miR-4709-3p	CLIP-seq
MIRT2111220	hsa-miR-4742-5p	CLIP-seq
MIRT1373499	hsa-miR-483-5p	CLIP-seq
MIRT2111221	hsa-miR-509-3p	CLIP-seq
MIRT2111222	hsa-miR-943	CLIP-seq
MIRT2111192	hsa-miR-1206	CLIP-seq
MIRT2334352	hsa-miR-15a	CLIP-seq
MIRT2334353	hsa-miR-15b	CLIP-seq
MIRT2334354	hsa-miR-16	CLIP-seq
MIRT2334355	hsa-miR-195	CLIP-seq
MIRT2334356	hsa-miR-214	CLIP-seq
MIRT2334357	hsa-miR-3184	CLIP-seq
MIRT2334358	hsa-miR-3619-5p	CLIP-seq
MIRT2334359	hsa-miR-3940-5p	CLIP-seq
MIRT2334360	hsa-miR-423-5p	CLIP-seq
MIRT2334361	hsa-miR-424	CLIP-seq
MIRT2334362	hsa-miR-4436a	CLIP-seq
MIRT2334363	hsa-miR-4436b-3p	CLIP-seq
MIRT2334364	hsa-miR-4476	CLIP-seq
MIRT2334365	hsa-miR-4507	CLIP-seq
MIRT1373496	hsa-miR-4723-5p	CLIP-seq
MIRT1373497	hsa-miR-4728-5p	CLIP-seq
MIRT2334366	hsa-miR-497	CLIP-seq
MIRT2334367	hsa-miR-626	CLIP-seq
MIRT2334368	hsa-miR-761	CLIP-seq
MIRT2628351	hsa-miR-1238	CLIP-seq
MIRT2628352	hsa-miR-1266	CLIP-seq
MIRT2628353	hsa-miR-1321	CLIP-seq
MIRT2628354	hsa-miR-1343	CLIP-seq
MIRT1373489	hsa-miR-139-3p	CLIP-seq
MIRT1373490	hsa-miR-149	CLIP-seq
MIRT2628355	hsa-miR-193a-3p	CLIP-seq
MIRT2628356	hsa-miR-193b	CLIP-seq
MIRT2628357	hsa-miR-2861	CLIP-seq
MIRT2628358	hsa-miR-3064-5p	CLIP-seq
MIRT2628359	hsa-miR-3124-3p	CLIP-seq
MIRT2628360	hsa-miR-3126-3p	CLIP-seq
MIRT2628361	hsa-miR-3128	CLIP-seq
MIRT2628362	hsa-miR-3137	CLIP-seq
MIRT2628363	hsa-miR-3176	CLIP-seq
MIRT2334357	hsa-miR-3184	CLIP-seq
MIRT2628364	hsa-miR-3189-3p	CLIP-seq
MIRT2111201	hsa-miR-3191	CLIP-seq
MIRT2628365	hsa-miR-3194-5p	CLIP-seq
MIRT2628366	hsa-miR-3616-3p	CLIP-seq
MIRT2628367	hsa-miR-362-5p	CLIP-seq
MIRT2628368	hsa-miR-3672	CLIP-seq
MIRT2628369	hsa-miR-3689a-3p	CLIP-seq
MIRT2628370	hsa-miR-3689c	CLIP-seq
MIRT2628371	hsa-miR-3922-3p	CLIP-seq
MIRT1373491	hsa-miR-3929	CLIP-seq
MIRT2334360	hsa-miR-423-5p	CLIP-seq
MIRT2111205	hsa-miR-4270	CLIP-seq
MIRT2628372	hsa-miR-4305	CLIP-seq
MIRT1373492	hsa-miR-4419a	CLIP-seq
MIRT1373493	hsa-miR-4419b	CLIP-seq
MIRT2334363	hsa-miR-4436b-3p	CLIP-seq
MIRT2111207	hsa-miR-4441	CLIP-seq
MIRT2628373	hsa-miR-4459	CLIP-seq
MIRT1373494	hsa-miR-4478	CLIP-seq
MIRT1373495	hsa-miR-4510	CLIP-seq
MIRT2628374	hsa-miR-4518	CLIP-seq
MIRT2628375	hsa-miR-4530	CLIP-seq
MIRT2628376	hsa-miR-4540	CLIP-seq
MIRT2628377	hsa-miR-4640-3p	CLIP-seq
MIRT2628378	hsa-miR-4652-5p	CLIP-seq
MIRT2628379	hsa-miR-4676-5p	CLIP-seq
MIRT2628380	hsa-miR-4690-3p	CLIP-seq
MIRT2628381	hsa-miR-4691-3p	CLIP-seq
MIRT2628382	hsa-miR-4718	CLIP-seq
MIRT2628383	hsa-miR-4720-5p	CLIP-seq
MIRT1373496	hsa-miR-4723-5p	CLIP-seq
MIRT1373497	hsa-miR-4728-5p	CLIP-seq
MIRT2628384	hsa-miR-4739	CLIP-seq
MIRT1373498	hsa-miR-4749-3p	CLIP-seq
MIRT2628385	hsa-miR-4756-5p	CLIP-seq
MIRT2628386	hsa-miR-4779	CLIP-seq
MIRT2628387	hsa-miR-4786-5p	CLIP-seq
MIRT2628388	hsa-miR-4794	CLIP-seq
MIRT2628389	hsa-miR-4799-3p	CLIP-seq
MIRT1373499	hsa-miR-483-5p	CLIP-seq
MIRT2628390	hsa-miR-500b	CLIP-seq
MIRT2628391	hsa-miR-558	CLIP-seq
MIRT2628392	hsa-miR-575	CLIP-seq
MIRT2628393	hsa-miR-595	CLIP-seq
MIRT2628394	hsa-miR-602	CLIP-seq
MIRT2628395	hsa-miR-605	CLIP-seq
MIRT2628396	hsa-miR-606	CLIP-seq
MIRT2628397	hsa-miR-646	CLIP-seq
MIRT2628398	hsa-miR-665	CLIP-seq
MIRT2628399	hsa-miR-718	CLIP-seq
MIRT2628400	hsa-miR-760	CLIP-seq
MIRT2628401	hsa-miR-769-5p	CLIP-seq
MIRT2628402	hsa-miR-885-3p	CLIP-seq
MIRT2628403	hsa-miR-892b	CLIP-seq
MIRT2111222	hsa-miR-943	CLIP-seq
MIRT1373497	hsa-miR-4728-5p	CLIP-seq
MIRT2628351	hsa-miR-1238	CLIP-seq
MIRT2628352	hsa-miR-1266	CLIP-seq
MIRT2628353	hsa-miR-1321	CLIP-seq
MIRT2628354	hsa-miR-1343	CLIP-seq
MIRT1373489	hsa-miR-139-3p	CLIP-seq
MIRT1373490	hsa-miR-149	CLIP-seq
MIRT2628355	hsa-miR-193a-3p	CLIP-seq
MIRT2628356	hsa-miR-193b	CLIP-seq
MIRT2691466	hsa-miR-1972	CLIP-seq
MIRT2628357	hsa-miR-2861	CLIP-seq
MIRT2628358	hsa-miR-3064-5p	CLIP-seq
MIRT2628359	hsa-miR-3124-3p	CLIP-seq
MIRT2628360	hsa-miR-3126-3p	CLIP-seq
MIRT2628361	hsa-miR-3128	CLIP-seq
MIRT2628362	hsa-miR-3137	CLIP-seq
MIRT2628363	hsa-miR-3176	CLIP-seq
MIRT2111201	hsa-miR-3191	CLIP-seq
MIRT2628365	hsa-miR-3194-5p	CLIP-seq
MIRT2628366	hsa-miR-3616-3p	CLIP-seq
MIRT2628368	hsa-miR-3672	CLIP-seq
MIRT2628371	hsa-miR-3922-3p	CLIP-seq
MIRT1373491	hsa-miR-3929	CLIP-seq
MIRT2691467	hsa-miR-3944-5p	CLIP-seq
MIRT2111205	hsa-miR-4270	CLIP-seq
MIRT2628372	hsa-miR-4305	CLIP-seq
MIRT1373492	hsa-miR-4419a	CLIP-seq
MIRT1373493	hsa-miR-4419b	CLIP-seq
MIRT2334363	hsa-miR-4436b-3p	CLIP-seq
MIRT2111207	hsa-miR-4441	CLIP-seq
MIRT2628373	hsa-miR-4459	CLIP-seq
MIRT1373494	hsa-miR-4478	CLIP-seq
MIRT1373495	hsa-miR-4510	CLIP-seq
MIRT2111212	hsa-miR-4514	CLIP-seq
MIRT2628374	hsa-miR-4518	CLIP-seq
MIRT2628376	hsa-miR-4540	CLIP-seq
MIRT2628377	hsa-miR-4640-3p	CLIP-seq
MIRT2691468	hsa-miR-4645-5p	CLIP-seq
MIRT2691469	hsa-miR-4650-5p	CLIP-seq
MIRT2628378	hsa-miR-4652-5p	CLIP-seq
MIRT2691470	hsa-miR-4673	CLIP-seq
MIRT2628379	hsa-miR-4676-5p	CLIP-seq
MIRT2628380	hsa-miR-4690-3p	CLIP-seq
MIRT2628381	hsa-miR-4691-3p	CLIP-seq
MIRT2691471	hsa-miR-4691-5p	CLIP-seq
MIRT2111216	hsa-miR-4692	CLIP-seq
MIRT2628382	hsa-miR-4718	CLIP-seq
MIRT2628383	hsa-miR-4720-5p	CLIP-seq
MIRT1373496	hsa-miR-4723-5p	CLIP-seq
MIRT1373497	hsa-miR-4728-5p	CLIP-seq
MIRT2628384	hsa-miR-4739	CLIP-seq
MIRT1373498	hsa-miR-4749-3p	CLIP-seq
MIRT2628385	hsa-miR-4756-5p	CLIP-seq
MIRT2628386	hsa-miR-4779	CLIP-seq
MIRT2628387	hsa-miR-4786-5p	CLIP-seq
MIRT2628388	hsa-miR-4794	CLIP-seq
MIRT2628389	hsa-miR-4799-3p	CLIP-seq
MIRT1373499	hsa-miR-483-5p	CLIP-seq
MIRT2628391	hsa-miR-558	CLIP-seq
MIRT2628392	hsa-miR-575	CLIP-seq
MIRT2628393	hsa-miR-595	CLIP-seq
MIRT2628394	hsa-miR-602	CLIP-seq
MIRT2628395	hsa-miR-605	CLIP-seq
MIRT2628396	hsa-miR-606	CLIP-seq
MIRT2628398	hsa-miR-665	CLIP-seq
MIRT2628401	hsa-miR-769-5p	CLIP-seq
MIRT2628402	hsa-miR-885-3p	CLIP-seq
MIRT2628403	hsa-miR-892b	CLIP-seq
MIRT2691472	hsa-miR-940	CLIP-seq
MIRT2111222	hsa-miR-943	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IBA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IMP	18974281, 19060897, 20930030
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	TAS	16488880
GO:0000781	Component	Chromosome, telomeric region	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003723	Function	RNA binding	IPI	17940095
GO:0004518	Function	Nuclease activity	IEA
GO:0004519	Function	Endonuclease activity	IEA
GO:0004521	Function	RNA endonuclease activity	IDA	19060897
GO:0004521	Function	RNA endonuclease activity	IMP	18974281
GO:0004521	Function	RNA endonuclease activity	TAS
GO:0005515	Function	Protein binding	IPI	12699629, 20930030, 21145460, 25220460, 32296183, 32814053
GO:0005634	Component	Nucleus	IDA	14636577
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0005697	Component	Telomerase holoenzyme complex	IBA
GO:0005697	Component	Telomerase holoenzyme complex	TAS	12699629
GO:0005730	Component	Nucleolus	IDA	12676087
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IDA	14636577
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	19060897
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006406	Process	MRNA export from nucleus	TAS	16488880
GO:0016787	Function	Hydrolase activity	IEA
GO:0032204	Process	Regulation of telomere maintenance	IMP	12699629, 17916692
GO:0032210	Process	Regulation of telomere maintenance via telomerase	IC	22011238
GO:0032210	Process	Regulation of telomere maintenance via telomerase	TAS	16507993
GO:0035145	Component	Exon-exon junction complex	IDA	20930030
GO:0035303	Process	Regulation of dephosphorylation	TAS	15721257
GO:0036064	Component	Ciliary basal body	IDA
GO:0042162	Function	Telomeric DNA binding	IBA
GO:0042162	Function	Telomeric DNA binding	IDA	12699629, 17916692
GO:0043021	Function	Ribonucleoprotein complex binding	IPI	12676087, 17940095
GO:0046872	Function	Metal ion binding	IEA
GO:0070034	Function	Telomerase RNA binding	IBA
GO:0070034	Function	Telomerase RNA binding	IPI	15857955, 17940095
GO:0070182	Function	DNA polymerase binding	IPI	17940095, 22011238
GO:1904354	Process	Negative regulation of telomere capping	IDA	12676087

MIM	HGNC	e!Ensembl
610963	17809	ENSG00000070366

Q86US8

Protein name

Telomerase-binding protein EST1A (EC 3.1.-.-) (Ever shorter telomeres 1A) (hEST1A) (Nonsense mediated mRNA decay factor SMG6) (Smg-6 homolog) (hSmg5/7a)

Protein function

Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini (PubMed:19179534). May have a general role in telomere regulation (PubMed:12676087, PubMed:12699629). Promotes in vitro the a

PDB

2DOK , 2HWW , 2HWX , 4UM2 , 8RXB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10374	EST1	638 → 743	Telomerase activating protein Est1	Family
PF10373	EST1_DNA_bind	751 → 1107	Est1 DNA/RNA binding domain	Family
PF13638	PIN_4	1248 → 1409	PIN domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:12676087, ECO:0000269|PubMed:12699629}.

Sequence

MAEGLERVRISASELRGILATLAPQAGSRENMKELKEARPRKDNRRPDLEIYKPGLSRLR
NKPKIKEPPGSEEFKDEIVNDRDCSAVENGTQPVKDVCKELNNQEQNGPIDPENNRGQES
FPRTAGQEDRSLKIIKRTKKPDLQIYQPGRRLQTVSKESASRVEEEEVLNQVEQLRVEED
ECRGNVAKEEVANKPDRAEIEKSPGGGRVGAAKGEKGKRMGKGEGVRETHDDPARGRPGS
AKRYSRSDKRRNRYRTRSTSSAGSNNSAEGAGLTDNGCRRRRQDRTKERPRLKKQVSVSS
TDSLDEDRIDEPDGLGPRRSSERKRHLERNWSGRGEGEQKNSAKEYRGTLRVTFDAEAMN
KESPMVRSARDDMDRGKPDKGLSSGGKGSEKQESKNPKQELRGRGRGILILPAHTTLSVN
SAGSPESAPLGPRLLFGSGSKGSRSWGRGGTTRRLWDPNNPDQKPALKTQTPQLHFLDTD
DEVSPTSWGDSRQAQASYYKFQNSDNPYYYPRTPGPASQYPYTGYNPLQYPVGPTNGVYP
GPYYPGYPTPSGQYVCSPLPTSTMSPEEVEQHMRNLQQQELHRLLRVADNQELQLSNLLS
RDRISPEGLEKMAQLRAELLQLYERCILLDIEFSDNQNVDQILWKNAFYQVIEKFRQLVK
DPNVENPEQIRNRLLELLDEGSDFFDSLLQKLQVTYKFKLEDYMDGLAIRSKPLRKTVKY
ALISAQRCMICQGDIARYREQASDTANYGKARSWYLKAQHIAPKNGRPYNQLALLAVYTR
RKLDAVYYYMRSLAASNPILTAKESLMSLFEETKRKAEQMEKKQHEEFDLSPDQWRKGKK
STFRHVGDDTTRLEIWIHPSHPRSSQGTESGKDSEQENGLGSLSPSDLNKRFILSFLHAH
GKLFTRIGMETFPAVAEKVLKEFQVLLQHSPSPIGSTRMLQLMTINMFAVHNSQLKDCFS
EECRSVIQEQAAALGLAMFSLLVRRCTCLLKESAKAQLSSPEDQDDQDDIKVSSFVPDLK
ELLPSVKVWSDWMLGYPDTWNPPPTSLDLPSHVAVDVWSTLADFCNILTAVNQSEVPLYK
DPDDDLTLLILEEDRLLSGFVPLLAAPQDPCYVEKTSDKVIAADCKRVTVLKYFLEALCG
QEEPLLAFKGGKYVSVAPVPDTMGKEMGSQEGTRLEDEEEDVVIEDFEEDSEAEGSGGED
DIRELRAKKLALARKIAEQQRRQEKIQAVLEDHSQMRQMELEIRPLFLVPDTNGFIDHLA
SLARLLESRKYILVVPLIVINELDGLAKGQETDHRAGGYARVVQEKARKSIEFLEQRFES
RDSCLRALTSRGNELESIAFRSEDITGQLGNNDDLILSCCLHYCKDKAKDFMPASKEEPI
RLLREVVLLTDDRNLRVKALTRNVPVRDIPAFLTWAQVG

Sequence length

1419

Interactions

View interactions

	KEGG		Reactome
	mRNA surveillance pathway		Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (31)

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.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ 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
BONE FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (23)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Bipolar Disorder	Bipolar disorder	Pubtator	25517604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASDB_DG	24262325		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	26343387, 28714975, 29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1	Coronary artery disease	GWASDB_DG	23202125		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21378990		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	21378990, 24262325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	25517604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	29363864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	29363864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASCAT_DG	22960999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	GWASDB_DG	22960999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	BEFREE	19018238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	25517604	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	32632093	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse	Mitral valve prolapse	Pubtator	33508947	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	GWASCAT_DG	26301497		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19018238		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	GWASCAT_DG	30664745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	Pubtator	36232302	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	29483656		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	GWASCAT_DG	22960999		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thromboembolism	Venous thromboembolism	Pubtator	31420334	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

SMG6 (SMG6 nonsense mediated mRNA decay factor)