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	9887
Gene name	SMG7 nonsense mediated mRNA decay factor
Gene symbol	SMG7
Synonyms (NCBI Gene)	C1orf16EST1CSGA56M
Chromosome	1
Chromosome location	1q25.3
Summary	This gene encodes a protein that is essential for nonsense-mediated mRNA decay (NMD); a process whereby transcripts with premature termination codons are targeted for rapid degradation by a mRNA decay complex. The mRNA decay complex consists, in part, of

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Show/Hide all (249)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017118	hsa-miR-335-5p	Microarray	18185580
MIRT052606	hsa-let-7a-5p	CLASH	23622248
MIRT052266	hsa-let-7b-5p	CLASH	23622248
MIRT048833	hsa-miR-93-5p	CLASH	23622248
MIRT045344	hsa-miR-185-5p	CLASH	23622248
MIRT044347	hsa-miR-106b-5p	CLASH	23622248
MIRT036693	hsa-miR-935	CLASH	23622248
MIRT653357	hsa-miR-577	HITS-CLIP	23824327
MIRT653356	hsa-miR-584-3p	HITS-CLIP	23824327
MIRT653355	hsa-miR-1470	HITS-CLIP	23824327
MIRT653354	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653353	hsa-miR-1203	HITS-CLIP	23824327
MIRT653352	hsa-miR-3183	HITS-CLIP	23824327
MIRT653351	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT653350	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653349	hsa-miR-4469	HITS-CLIP	23824327
MIRT653348	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT653347	hsa-miR-4287	HITS-CLIP	23824327
MIRT653346	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT653345	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT653344	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT653343	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT653342	hsa-miR-4326	HITS-CLIP	23824327
MIRT653341	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT653340	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT653338	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT653339	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT653337	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT439580	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT439580	hsa-miR-493-3p	HITS-CLIP	24374217
MIRT653357	hsa-miR-577	HITS-CLIP	23824327
MIRT653356	hsa-miR-584-3p	HITS-CLIP	23824327
MIRT653355	hsa-miR-1470	HITS-CLIP	23824327
MIRT653354	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653353	hsa-miR-1203	HITS-CLIP	23824327
MIRT653352	hsa-miR-3183	HITS-CLIP	23824327
MIRT653351	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT653350	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT653349	hsa-miR-4469	HITS-CLIP	23824327
MIRT653348	hsa-miR-7113-3p	HITS-CLIP	23824327
MIRT653347	hsa-miR-4287	HITS-CLIP	23824327
MIRT653346	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT653345	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT653344	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT653343	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT653342	hsa-miR-4326	HITS-CLIP	23824327
MIRT653341	hsa-miR-7111-3p	HITS-CLIP	23824327
MIRT653340	hsa-miR-6881-3p	HITS-CLIP	23824327
MIRT653338	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT653339	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT653337	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT1373500	hsa-miR-1	CLIP-seq
MIRT1373501	hsa-miR-1205	CLIP-seq
MIRT1373502	hsa-miR-1301	CLIP-seq
MIRT1373503	hsa-miR-1305	CLIP-seq
MIRT1373504	hsa-miR-141	CLIP-seq
MIRT1373505	hsa-miR-147	CLIP-seq
MIRT1373506	hsa-miR-181a	CLIP-seq
MIRT1373507	hsa-miR-181b	CLIP-seq
MIRT1373508	hsa-miR-181c	CLIP-seq
MIRT1373509	hsa-miR-181d	CLIP-seq
MIRT1373510	hsa-miR-1909	CLIP-seq
MIRT1373511	hsa-miR-1910	CLIP-seq
MIRT1373512	hsa-miR-196a	CLIP-seq
MIRT1373513	hsa-miR-196b	CLIP-seq
MIRT1373514	hsa-miR-200a	CLIP-seq
MIRT1373515	hsa-miR-206	CLIP-seq
MIRT1373516	hsa-miR-22	CLIP-seq
MIRT1373517	hsa-miR-3141	CLIP-seq
MIRT1373518	hsa-miR-3148	CLIP-seq
MIRT1373519	hsa-miR-3199	CLIP-seq
MIRT1373520	hsa-miR-330-3p	CLIP-seq
MIRT1373521	hsa-miR-3613-3p	CLIP-seq
MIRT1373522	hsa-miR-3665	CLIP-seq
MIRT1373523	hsa-miR-3673	CLIP-seq
MIRT1373524	hsa-miR-3911	CLIP-seq
MIRT1373525	hsa-miR-3942-3p	CLIP-seq
MIRT1373526	hsa-miR-409-3p	CLIP-seq
MIRT1373527	hsa-miR-412	CLIP-seq
MIRT1373528	hsa-miR-4262	CLIP-seq
MIRT1373529	hsa-miR-4264	CLIP-seq
MIRT1373530	hsa-miR-4265	CLIP-seq
MIRT1373531	hsa-miR-4276	CLIP-seq
MIRT1373532	hsa-miR-4296	CLIP-seq
MIRT1373533	hsa-miR-431	CLIP-seq
MIRT1373534	hsa-miR-4322	CLIP-seq
MIRT1373535	hsa-miR-4417	CLIP-seq
MIRT1373536	hsa-miR-4453	CLIP-seq
MIRT1373537	hsa-miR-4496	CLIP-seq
MIRT1373538	hsa-miR-4538	CLIP-seq
MIRT1373539	hsa-miR-4640-5p	CLIP-seq
MIRT1373540	hsa-miR-4645-3p	CLIP-seq
MIRT1373541	hsa-miR-4652-5p	CLIP-seq
MIRT1373542	hsa-miR-4660	CLIP-seq
MIRT1373543	hsa-miR-4684-3p	CLIP-seq
MIRT1373544	hsa-miR-4704-3p	CLIP-seq
MIRT1373545	hsa-miR-4726-5p	CLIP-seq
MIRT1373546	hsa-miR-4797-3p	CLIP-seq
MIRT1373547	hsa-miR-5047	CLIP-seq
MIRT1373548	hsa-miR-542-3p	CLIP-seq
MIRT1373549	hsa-miR-545	CLIP-seq
MIRT1373550	hsa-miR-548m	CLIP-seq
MIRT1373551	hsa-miR-555	CLIP-seq
MIRT1373552	hsa-miR-607	CLIP-seq
MIRT1373553	hsa-miR-613	CLIP-seq
MIRT1373554	hsa-miR-644	CLIP-seq
MIRT1373555	hsa-miR-657	CLIP-seq
MIRT1373556	hsa-miR-892a	CLIP-seq
MIRT1373557	hsa-miR-1200	CLIP-seq
MIRT1373558	hsa-miR-1246	CLIP-seq
MIRT1373559	hsa-miR-1290	CLIP-seq
MIRT1373560	hsa-miR-184	CLIP-seq
MIRT1373561	hsa-miR-296-5p	CLIP-seq
MIRT1373562	hsa-miR-3134	CLIP-seq
MIRT1373563	hsa-miR-3167	CLIP-seq
MIRT1373564	hsa-miR-3191	CLIP-seq
MIRT1373565	hsa-miR-4532	CLIP-seq
MIRT1373566	hsa-miR-4534	CLIP-seq
MIRT1373567	hsa-miR-876-5p	CLIP-seq
MIRT1373511	hsa-miR-1910	CLIP-seq
MIRT1373568	hsa-miR-3145-5p	CLIP-seq
MIRT1373569	hsa-miR-4279	CLIP-seq
MIRT1373570	hsa-miR-455-3p	CLIP-seq
MIRT1373571	hsa-miR-4731-3p	CLIP-seq
MIRT1373572	hsa-miR-4801	CLIP-seq
MIRT1373573	hsa-miR-508-5p	CLIP-seq
MIRT1373511	hsa-miR-1910	CLIP-seq
MIRT2111223	hsa-miR-28-5p	CLIP-seq
MIRT2111224	hsa-miR-3124-3p	CLIP-seq
MIRT2111225	hsa-miR-3139	CLIP-seq
MIRT2111226	hsa-miR-3605-5p	CLIP-seq
MIRT2111227	hsa-miR-4278	CLIP-seq
MIRT2111228	hsa-miR-4487	CLIP-seq
MIRT2111229	hsa-miR-4639-3p	CLIP-seq
MIRT2111230	hsa-miR-4659a-5p	CLIP-seq
MIRT2111231	hsa-miR-4659b-5p	CLIP-seq
MIRT2111232	hsa-miR-4715-3p	CLIP-seq
MIRT2111233	hsa-miR-4716-3p	CLIP-seq
MIRT2111234	hsa-miR-708	CLIP-seq
MIRT2111224	hsa-miR-3124-3p	CLIP-seq
MIRT2394879	hsa-miR-1279	CLIP-seq
MIRT2460032	hsa-miR-3144-5p	CLIP-seq
MIRT1373564	hsa-miR-3191	CLIP-seq
MIRT2460033	hsa-miR-3652	CLIP-seq
MIRT2460034	hsa-miR-4430	CLIP-seq
MIRT2460035	hsa-miR-4445	CLIP-seq
MIRT2460036	hsa-miR-4474-3p	CLIP-seq
MIRT2460037	hsa-miR-4505	CLIP-seq
MIRT1373541	hsa-miR-4652-5p	CLIP-seq
MIRT2460038	hsa-miR-4667-5p	CLIP-seq
MIRT2460039	hsa-miR-4700-5p	CLIP-seq
MIRT2460040	hsa-miR-4731-5p	CLIP-seq
MIRT2460041	hsa-miR-4760-5p	CLIP-seq
MIRT2460042	hsa-miR-587	CLIP-seq
MIRT2628404	hsa-miR-1237	CLIP-seq
MIRT2628405	hsa-miR-1238	CLIP-seq
MIRT2628406	hsa-miR-1248	CLIP-seq
MIRT2628407	hsa-miR-185	CLIP-seq
MIRT1373511	hsa-miR-1910	CLIP-seq
MIRT2628408	hsa-miR-3120-3p	CLIP-seq
MIRT2111224	hsa-miR-3124-3p	CLIP-seq
MIRT2628409	hsa-miR-3127-3p	CLIP-seq
MIRT2628410	hsa-miR-3162-3p	CLIP-seq
MIRT2628411	hsa-miR-3182	CLIP-seq
MIRT2628412	hsa-miR-3679-3p	CLIP-seq
MIRT2628413	hsa-miR-3909	CLIP-seq
MIRT2628414	hsa-miR-4306	CLIP-seq
MIRT2628415	hsa-miR-4428	CLIP-seq
MIRT2460035	hsa-miR-4445	CLIP-seq
MIRT1373570	hsa-miR-455-3p	CLIP-seq
MIRT2628416	hsa-miR-4644	CLIP-seq
MIRT2628417	hsa-miR-4652-3p	CLIP-seq
MIRT2628418	hsa-miR-4691-5p	CLIP-seq
MIRT1373571	hsa-miR-4731-3p	CLIP-seq
MIRT2460041	hsa-miR-4760-5p	CLIP-seq
MIRT1373572	hsa-miR-4801	CLIP-seq
MIRT2460042	hsa-miR-587	CLIP-seq
MIRT2628419	hsa-miR-626	CLIP-seq
MIRT2628420	hsa-miR-769-5p	CLIP-seq
MIRT1373501	hsa-miR-1205	CLIP-seq
MIRT2691473	hsa-miR-1228	CLIP-seq
MIRT2628405	hsa-miR-1238	CLIP-seq
MIRT2691474	hsa-miR-1245b-5p	CLIP-seq
MIRT2691475	hsa-miR-1298	CLIP-seq
MIRT1373505	hsa-miR-147	CLIP-seq
MIRT1373510	hsa-miR-1909	CLIP-seq
MIRT1373511	hsa-miR-1910	CLIP-seq
MIRT2691476	hsa-miR-197	CLIP-seq
MIRT2691477	hsa-miR-205	CLIP-seq
MIRT2691478	hsa-miR-221	CLIP-seq
MIRT2691479	hsa-miR-222	CLIP-seq
MIRT2691480	hsa-miR-2277-3p	CLIP-seq
MIRT2691481	hsa-miR-299-5p	CLIP-seq
MIRT2628408	hsa-miR-3120-3p	CLIP-seq
MIRT2111224	hsa-miR-3124-3p	CLIP-seq
MIRT2628409	hsa-miR-3127-3p	CLIP-seq
MIRT2691482	hsa-miR-3142	CLIP-seq
MIRT2691483	hsa-miR-3145-3p	CLIP-seq
MIRT2628410	hsa-miR-3162-3p	CLIP-seq
MIRT2691484	hsa-miR-3180-5p	CLIP-seq
MIRT1373519	hsa-miR-3199	CLIP-seq
MIRT2691485	hsa-miR-329	CLIP-seq
MIRT2691486	hsa-miR-342-3p	CLIP-seq
MIRT2691487	hsa-miR-3545-3p	CLIP-seq
MIRT2691488	hsa-miR-3614-3p	CLIP-seq
MIRT2691489	hsa-miR-362-3p	CLIP-seq
MIRT2628412	hsa-miR-3679-3p	CLIP-seq
MIRT2691490	hsa-miR-3688-3p	CLIP-seq
MIRT2691491	hsa-miR-3689a-5p	CLIP-seq
MIRT2691492	hsa-miR-3689b	CLIP-seq
MIRT2691493	hsa-miR-3689e	CLIP-seq
MIRT2691494	hsa-miR-3689f	CLIP-seq
MIRT2628413	hsa-miR-3909	CLIP-seq
MIRT1373524	hsa-miR-3911	CLIP-seq
MIRT2691495	hsa-miR-3941	CLIP-seq
MIRT1373530	hsa-miR-4265	CLIP-seq
MIRT1373531	hsa-miR-4276	CLIP-seq
MIRT1373532	hsa-miR-4296	CLIP-seq
MIRT2691496	hsa-miR-4302	CLIP-seq
MIRT1373534	hsa-miR-4322	CLIP-seq
MIRT1373535	hsa-miR-4417	CLIP-seq
MIRT2460035	hsa-miR-4445	CLIP-seq
MIRT2691497	hsa-miR-4446-3p	CLIP-seq
MIRT2691498	hsa-miR-4508	CLIP-seq
MIRT2691499	hsa-miR-4519	CLIP-seq
MIRT1373570	hsa-miR-455-3p	CLIP-seq
MIRT1373539	hsa-miR-4640-5p	CLIP-seq
MIRT2691500	hsa-miR-4650-5p	CLIP-seq
MIRT1373541	hsa-miR-4652-5p	CLIP-seq
MIRT2111230	hsa-miR-4659a-5p	CLIP-seq
MIRT2111231	hsa-miR-4659b-5p	CLIP-seq
MIRT2691501	hsa-miR-4680-5p	CLIP-seq
MIRT2628418	hsa-miR-4691-5p	CLIP-seq
MIRT2111232	hsa-miR-4715-3p	CLIP-seq
MIRT2691502	hsa-miR-4721	CLIP-seq
MIRT1373545	hsa-miR-4726-5p	CLIP-seq
MIRT2460041	hsa-miR-4760-5p	CLIP-seq
MIRT2691503	hsa-miR-4802-5p	CLIP-seq
MIRT2691504	hsa-miR-502-5p	CLIP-seq
MIRT2691505	hsa-miR-513a-5p	CLIP-seq
MIRT2691506	hsa-miR-548v	CLIP-seq
MIRT2691507	hsa-miR-583	CLIP-seq
MIRT2460042	hsa-miR-587	CLIP-seq
MIRT2691508	hsa-miR-603	CLIP-seq
MIRT1373554	hsa-miR-644	CLIP-seq
MIRT2691509	hsa-miR-665	CLIP-seq
MIRT2691510	hsa-miR-7	CLIP-seq
MIRT2691511	hsa-miR-887	CLIP-seq
MIRT1373556	hsa-miR-892a	CLIP-seq

Show/Hide all (17)

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	TAS	16488880
GO:0005515	Function	Protein binding	IPI	14636577, 20930030, 23348841, 25220460, 35271311
GO:0005634	Component	Nucleus	IDA	14636577
GO:0005634	Component	Nucleus	IEA
GO:0005697	Component	Telomerase holoenzyme complex	IBA
GO:0005737	Component	Cytoplasm	IDA	14636577
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006406	Process	MRNA export from nucleus	TAS	16488880
GO:0035303	Process	Regulation of dephosphorylation	TAS	15721257
GO:0042162	Function	Telomeric DNA binding	IBA
GO:0042162	Function	Telomeric DNA binding	IDA	17916692
GO:0051721	Function	Protein phosphatase 2A binding	IDA	14636577
GO:0070034	Function	Telomerase RNA binding	IBA

MIM	HGNC	e!Ensembl
610964	16792	ENSG00000116698

Q92540

Protein name

Nonsense-mediated mRNA decay factor SMG7 (SMG-7 homolog) (hSMG-7)

Protein function

Plays a role in nonsense-mediated mRNA decay. Recruits UPF1 to cytoplasmic mRNA decay bodies. Together with SMG5 is thought to provide a link to the mRNA degradation machinery involving exonucleolytic pathways, and to serve as an adapter for UPF

PDB

1YA0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10374	EST1	55 → 169	Telomerase activating protein Est1	Family
PF10373	EST1_DNA_bind	171 → 431	Est1 DNA/RNA binding domain	Family

Sequence

MSLQSAQYLRQAEVLKADMTDSKLGPAEVWTSRQALQDLYQKMLVTDLEYALDKKVEQDL
WNHAFKNQITTLQGQAKNRANPNRSEVQANLSLFLEAASGFYTQLLQELCTVFNVDLPCR
VKSSQLGIISNKQTHTSAIVKPQSSSCSYICQHCLVHLGDIARYRNQTSQAESYYRHAAQ
LVPSNGQPYNQLAILASSKGDHLTTIFYYCRSIAVKFPFPAASTNLQKALSKALESRDEV
KTKWGVSDFIKAFIKFHGHVYLSKSLEKLSPLREKLEEQFKRLLFQKAFNSQQLVHVTVI
NLFQLHHLRDFSNETEQHTYSQDEQLCWTQLLALFMSFLGILCKCPLQNESQEESYNAYP
LPAVKVSMDWLRLRPRVFQEAVVDERQYIWPWLISLLNSFHPHEEDLSSISATPLPEEFE
LQGFLALRPSFRNLDFSKGHQGITGDKEGQQRRIRQQRLISIGKWIADNQPRLIQCENEV
GKLLFITEIPELILEDPSEAKENLILQETSVIESLAADGSPGLKSVLSTSRNLSNNCDTG
EKPVVTFKENIKTREVNRDQGRSFPPKEVRRDYSKGITVTKNDGKKDNNKRKTETKKCTL
EKLQETGKQNVAVQVKSQTELRKTPVSEARKTPVTQTPTQASNSQFIPIHHPGAFPPLPS
RPGFPPPTYVIPPPVAFSMGSGYTFPAGVSVPGTFLQPTAHSPAGNQVQAGKQSHIPYSQ
QRPSGPGPMNQGPQQSQPPSQQPLTSLPAQPTAQSTSQLQVQALTQQQQSPTKAVPALGK
SPPHHSGFQQYQQADASKQLWNPPQVQGPLGKIMPVKQPYYLQTQDPIKLFEPSLQPPVM
QQQPLEKKMKPFPMEPYNHNPSEVKVPEFYWDSSYSMADNRSVMAQQANIDRRGKRSPGV
FRPEQDPVPRMPFEKSLLEKPSELMSHSSSFLSLTGFSLNQERYPNNSMFNEVYGKNLTS
SSKAELSPSMAPQETSLYSLFEGTPWSPSLPASSDHSTPASQSPHSSNPSSLPSSPPTHN
HNSVPFSNFGPIGTPDNRDRRTADRWKTDKPAMGGFGIDYLSATSSSESSWHQASTPSGT
WTGHGPSMEDSSAVLMESLKSIWSSSMMHPGPSALEQLLMQQKQKQQRGQGTMNPPH

Sequence length

1137

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 (9)

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.
AUTOIMMUNE DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISORDER OF MUSCULOSKELETAL SYSTEM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOSITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC SCLERODERMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Celiac Disease	Celiac disease	GWASCAT_DG	26546613		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II	Granulomatous Disease	CLINVAR_DG	10498624, 10598813, 18625437, 19624736, 20167518, 25937994		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	26783109	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	19838195, 26502338, 26606652, 27399966, 28714469, 30573655		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26783109		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	36931476	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	36931476	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	25818868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	GWASCAT_DG	30573655		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35511739	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	26546613, 30573655		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Systemic Scleroderma	Scleroderma	GWASCAT_DG	30573655		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Neoplasms	Thyroid cancer	Pubtator	36281116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urogenital Abnormalities	Urogenital abnormalities	Pubtator	37584388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SMG7 (SMG7 nonsense mediated mRNA decay factor)