SMG6 (SMG6 nonsense mediated mRNA decay factor)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 23293
• Gene name: SMG6 nonsense mediated mRNA decay factor
• Gene symbol: SMG6
• Synonyms (NCBI Gene): C17orf31, EST1A, SMG-6, hEST1A, hSMG5/7a
• 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

miRNA Show/Hide all (209)

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

Gene ontology (GO) 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

Other IDs

• MIM: 610963
• HGNC: 17809
• e!Ensembl: ENSG00000070366

Protein

• UniProt ID: 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
  PF10373	EST1_DNA_bind	751 → 1107	Est1 DNA/RNA binding domain	Family
  PF10374	EST1	638 → 743	Telomerase activating protein Est1	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

Pathways

KEGG Pathway:

mRNA surveillance pathway

Reactome Pathway:

Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)

Associated diseases

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)

Unknown / Other Associations Show/Hide Unknown Diseases (31)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	30573740	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	40050429, 40645996, 41022758	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	34446935	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	37919453	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	29059683	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	29059683	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	37069358, 40155373	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	21378990, 24262325, 26343387, 29212778, 32469254, 33020668, 35285134, 36474045, 39537608, 41022758	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ATHEROSCLEROSIS	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIVERTICULAR DISEASE	—	GWAS catalog	37492107, 40155373	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL CARCINOMA	—	GWAS catalog	22960999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	38102678	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	36376295, 37429843, 40195560, 41184235	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	38965376	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	38102678	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	32632093, 34294844, 35115687	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	26301497, 35245370	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	31604244	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	26343387, 33532862, 34594039, 38072966, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	35047847	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	36137488	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	33627673, 36777996, 37386247, 38382466, 39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	34450027, 36411363	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	30664745, 36376028, 36889626, 37247657	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	26198764, 29483656, 31740837, 35235886, 35396580, 36137488, 39753749	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	22960999	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	34446935	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	31420334, 36777996	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (23)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

SMG1 2 shared pathwaysmRNA surveillance pathway, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) Related via 2 shared pathways including mRNA surveillance pathway, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC). SMG5 2 shared pathwaysmRNA surveillance pathway, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) Related via 2 shared pathways including mRNA surveillance pathway, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC). SMG7 2 shared pathwaysmRNA surveillance pathway, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) Related via 2 shared pathways including mRNA surveillance pathway, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC). P2RY14 2 shared diseasesDiverticular disease, Irritable bowel syndrome 2 shared evidence sourcesGWAS catalog (Diverticular disease), GWAS catalog (Irritable bowel syndrome) Related via 2 shared diseases including Diverticular disease, Irritable bowel syndrome — evidence mostly GWAS catalog. MAPKAP1 2 shared diseasesDiverticular disease, Gastroesophageal reflux disease 2 shared evidence sourcesGWAS catalog (Diverticular disease), GWAS catalog (Gastroesophageal reflux disease) Related via 2 shared diseases including Diverticular disease, Gastroesophageal reflux disease — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SMG1	0	[]	2	["mRNA surveillance pathway","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)"]	0	[]
SMG5	0	[]	2	["mRNA surveillance pathway","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)"]	0	[]
SMG7	0	[]	2	["mRNA surveillance pathway","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)"]	0	[]
P2RY14	2	["Diverticular disease","Irritable bowel syndrome"]	0	[]	2	["GWAS catalog (Diverticular disease)","GWAS catalog (Irritable bowel syndrome)"]
MAPKAP1	2	["Diverticular disease","Gastroesophageal reflux disease"]	0	[]	2	["GWAS catalog (Diverticular disease)","GWAS catalog (Gastroesophageal reflux disease)"]

Diseases Linked via Similar Genes

Autoimmune disease Linked via 1 of 5 related genesSMG7 Autoimmune musculoskeletal system disorder Linked via 1 of 5 related genesSMG7 Celiac disease Linked via 1 of 5 related genesSMG7 Myositis Linked via 1 of 5 related genesSMG7 Rheumatoid arthritis Linked via 1 of 5 related genesSMG7

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Autoimmune disease	1	["SMG7"]
Autoimmune musculoskeletal system disorder	1	["SMG7"]
Celiac disease	1	["SMG7"]
Myositis	1	["SMG7"]
Rheumatoid arthritis	1	["SMG7"]