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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3703
Gene name	STT3 oligosaccharyltransferase complex catalytic subunit A
Gene symbol	STT3A
Synonyms (NCBI Gene)	CDG1WADCDG1WARITM1STT3-ATMC
Chromosome	11
Chromosome location	11q24.2
Summary	The protein encoded by this gene is a catalytic subunit of the N-oligosaccharyltransferase (OST) complex, which functions in the endoplasmic reticulum to transfer glycan chains to asparagine residues of target proteins. A separate complex containing a sim

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SNP ID	Visualize variation	Clinical significance	Consequence
rs587777216	T>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant

161

Show/Hide all (161)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022920	hsa-miR-124-3p	Microarray	18668037
MIRT047614	hsa-miR-10a-5p	CLASH	23622248
MIRT047423	hsa-miR-10b-5p	CLASH	23622248
MIRT043817	hsa-miR-328-3p	CLASH	23622248
MIRT042092	hsa-miR-484	CLASH	23622248
MIRT653032	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT439516	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT439515	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT439516	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT439515	hsa-miR-539-5p	HITS-CLIP	24374217
MIRT653032	hsa-miR-3679-3p	HITS-CLIP	23824327
MIRT1399910	hsa-miR-1200	CLIP-seq
MIRT1399911	hsa-miR-148a	CLIP-seq
MIRT1399912	hsa-miR-148b	CLIP-seq
MIRT1399913	hsa-miR-152	CLIP-seq
MIRT1399914	hsa-miR-3074-5p	CLIP-seq
MIRT1399915	hsa-miR-3136-3p	CLIP-seq
MIRT1399916	hsa-miR-328	CLIP-seq
MIRT1399917	hsa-miR-4690-3p	CLIP-seq
MIRT1399918	hsa-miR-548c-3p	CLIP-seq
MIRT1399919	hsa-miR-579	CLIP-seq
MIRT2119902	hsa-miR-1323	CLIP-seq
MIRT2119903	hsa-miR-145	CLIP-seq
MIRT2119904	hsa-miR-425	CLIP-seq
MIRT2119905	hsa-miR-4328	CLIP-seq
MIRT2119906	hsa-miR-4502	CLIP-seq
MIRT2119907	hsa-miR-4762-3p	CLIP-seq
MIRT2119908	hsa-miR-518a-5p	CLIP-seq
MIRT2119909	hsa-miR-527	CLIP-seq
MIRT2119910	hsa-miR-548o	CLIP-seq
MIRT1399910	hsa-miR-1200	CLIP-seq
MIRT2635743	hsa-miR-1237	CLIP-seq
MIRT2635744	hsa-miR-124	CLIP-seq
MIRT2635745	hsa-miR-1248	CLIP-seq
MIRT2635746	hsa-miR-1298	CLIP-seq
MIRT2635747	hsa-miR-1321	CLIP-seq
MIRT2119902	hsa-miR-1323	CLIP-seq
MIRT2119903	hsa-miR-145	CLIP-seq
MIRT2635748	hsa-miR-188-3p	CLIP-seq
MIRT2635749	hsa-miR-2116	CLIP-seq
MIRT2635750	hsa-miR-217	CLIP-seq
MIRT2635751	hsa-miR-219-2-3p	CLIP-seq
MIRT2635752	hsa-miR-2909	CLIP-seq
MIRT2635753	hsa-miR-2964a-3p	CLIP-seq
MIRT1399914	hsa-miR-3074-5p	CLIP-seq
MIRT2635754	hsa-miR-3120-5p	CLIP-seq
MIRT2635755	hsa-miR-3123	CLIP-seq
MIRT2635756	hsa-miR-3128	CLIP-seq
MIRT1399915	hsa-miR-3136-3p	CLIP-seq
MIRT2635757	hsa-miR-3162-5p	CLIP-seq
MIRT2635758	hsa-miR-3163	CLIP-seq
MIRT2635759	hsa-miR-3180-5p	CLIP-seq
MIRT2635760	hsa-miR-3182	CLIP-seq
MIRT1399916	hsa-miR-328	CLIP-seq
MIRT2635761	hsa-miR-340	CLIP-seq
MIRT2635762	hsa-miR-3607-3p	CLIP-seq
MIRT2635763	hsa-miR-3663-5p	CLIP-seq
MIRT2635764	hsa-miR-3686	CLIP-seq
MIRT2635765	hsa-miR-375	CLIP-seq
MIRT2635766	hsa-miR-4273	CLIP-seq
MIRT2635767	hsa-miR-4281	CLIP-seq
MIRT2635768	hsa-miR-4282	CLIP-seq
MIRT2635769	hsa-miR-4300	CLIP-seq
MIRT2119905	hsa-miR-4328	CLIP-seq
MIRT2635770	hsa-miR-4427	CLIP-seq
MIRT2635771	hsa-miR-4461	CLIP-seq
MIRT2635772	hsa-miR-448	CLIP-seq
MIRT2119906	hsa-miR-4502	CLIP-seq
MIRT2635773	hsa-miR-4527	CLIP-seq
MIRT2635774	hsa-miR-4633-3p	CLIP-seq
MIRT2635775	hsa-miR-4661-3p	CLIP-seq
MIRT2635776	hsa-miR-4677-5p	CLIP-seq
MIRT2635777	hsa-miR-4680-3p	CLIP-seq
MIRT1399917	hsa-miR-4690-3p	CLIP-seq
MIRT2635778	hsa-miR-4720-5p	CLIP-seq
MIRT2635779	hsa-miR-4729	CLIP-seq
MIRT2635780	hsa-miR-4735-5p	CLIP-seq
MIRT2635781	hsa-miR-4739	CLIP-seq
MIRT2635782	hsa-miR-4756-5p	CLIP-seq
MIRT2119907	hsa-miR-4762-3p	CLIP-seq
MIRT2635783	hsa-miR-4799-3p	CLIP-seq
MIRT2635784	hsa-miR-490-3p	CLIP-seq
MIRT2635785	hsa-miR-506	CLIP-seq
MIRT2635786	hsa-miR-520a-5p	CLIP-seq
MIRT2635787	hsa-miR-520d-5p	CLIP-seq
MIRT2635788	hsa-miR-524-5p	CLIP-seq
MIRT2635789	hsa-miR-525-5p	CLIP-seq
MIRT2635790	hsa-miR-539	CLIP-seq
MIRT2635791	hsa-miR-548a-3p	CLIP-seq
MIRT2635792	hsa-miR-548an	CLIP-seq
MIRT1399918	hsa-miR-548c-3p	CLIP-seq
MIRT2635793	hsa-miR-548e	CLIP-seq
MIRT2635794	hsa-miR-548f	CLIP-seq
MIRT2635795	hsa-miR-548g	CLIP-seq
MIRT2119910	hsa-miR-548o	CLIP-seq
MIRT1399919	hsa-miR-579	CLIP-seq
MIRT2635796	hsa-miR-580	CLIP-seq
MIRT2635797	hsa-miR-600	CLIP-seq
MIRT2635798	hsa-miR-610	CLIP-seq
MIRT2635799	hsa-miR-624	CLIP-seq
MIRT2635800	hsa-miR-649	CLIP-seq
MIRT2635801	hsa-miR-664	CLIP-seq
MIRT2635802	hsa-miR-920	CLIP-seq
MIRT1399910	hsa-miR-1200	CLIP-seq
MIRT2635744	hsa-miR-124	CLIP-seq
MIRT2635747	hsa-miR-1321	CLIP-seq
MIRT2119902	hsa-miR-1323	CLIP-seq
MIRT2119903	hsa-miR-145	CLIP-seq
MIRT2635748	hsa-miR-188-3p	CLIP-seq
MIRT2635749	hsa-miR-2116	CLIP-seq
MIRT2635751	hsa-miR-219-2-3p	CLIP-seq
MIRT2635752	hsa-miR-2909	CLIP-seq
MIRT2635753	hsa-miR-2964a-3p	CLIP-seq
MIRT1399914	hsa-miR-3074-5p	CLIP-seq
MIRT2635754	hsa-miR-3120-5p	CLIP-seq
MIRT1399915	hsa-miR-3136-3p	CLIP-seq
MIRT2635757	hsa-miR-3162-5p	CLIP-seq
MIRT2635758	hsa-miR-3163	CLIP-seq
MIRT2635759	hsa-miR-3180-5p	CLIP-seq
MIRT2635760	hsa-miR-3182	CLIP-seq
MIRT1399916	hsa-miR-328	CLIP-seq
MIRT2635761	hsa-miR-340	CLIP-seq
MIRT2635762	hsa-miR-3607-3p	CLIP-seq
MIRT2635763	hsa-miR-3663-5p	CLIP-seq
MIRT2635764	hsa-miR-3686	CLIP-seq
MIRT2635765	hsa-miR-375	CLIP-seq
MIRT2635766	hsa-miR-4273	CLIP-seq
MIRT2635767	hsa-miR-4281	CLIP-seq
MIRT2635769	hsa-miR-4300	CLIP-seq
MIRT2119905	hsa-miR-4328	CLIP-seq
MIRT2635770	hsa-miR-4427	CLIP-seq
MIRT2119906	hsa-miR-4502	CLIP-seq
MIRT2635774	hsa-miR-4633-3p	CLIP-seq
MIRT2635775	hsa-miR-4661-3p	CLIP-seq
MIRT2635776	hsa-miR-4677-5p	CLIP-seq
MIRT2635777	hsa-miR-4680-3p	CLIP-seq
MIRT1399917	hsa-miR-4690-3p	CLIP-seq
MIRT2635780	hsa-miR-4735-5p	CLIP-seq
MIRT2635781	hsa-miR-4739	CLIP-seq
MIRT2635782	hsa-miR-4756-5p	CLIP-seq
MIRT2119907	hsa-miR-4762-3p	CLIP-seq
MIRT2635784	hsa-miR-490-3p	CLIP-seq
MIRT2635785	hsa-miR-506	CLIP-seq
MIRT2635786	hsa-miR-520a-5p	CLIP-seq
MIRT2635787	hsa-miR-520d-5p	CLIP-seq
MIRT2635788	hsa-miR-524-5p	CLIP-seq
MIRT2635789	hsa-miR-525-5p	CLIP-seq
MIRT2635790	hsa-miR-539	CLIP-seq
MIRT2635791	hsa-miR-548a-3p	CLIP-seq
MIRT2635792	hsa-miR-548an	CLIP-seq
MIRT1399918	hsa-miR-548c-3p	CLIP-seq
MIRT2635793	hsa-miR-548e	CLIP-seq
MIRT2635794	hsa-miR-548f	CLIP-seq
MIRT2635795	hsa-miR-548g	CLIP-seq
MIRT2119910	hsa-miR-548o	CLIP-seq
MIRT1399919	hsa-miR-579	CLIP-seq
MIRT2635796	hsa-miR-580	CLIP-seq
MIRT2635797	hsa-miR-600	CLIP-seq
MIRT2635798	hsa-miR-610	CLIP-seq
MIRT2635800	hsa-miR-649	CLIP-seq
MIRT2635802	hsa-miR-920	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004576	Function	Oligosaccharyl transferase activity	IEA
GO:0004579	Function	Dolichyl-diphosphooligosaccharide-protein glycotransferase activity	IBA
GO:0004579	Function	Dolichyl-diphosphooligosaccharide-protein glycotransferase activity	IEA
GO:0004579	Function	Dolichyl-diphosphooligosaccharide-protein glycotransferase activity	IMP	19167329, 22467853
GO:0004579	Function	Dolichyl-diphosphooligosaccharide-protein glycotransferase activity	ISS
GO:0005515	Function	Protein binding	IPI	21903422, 30021884, 32707033, 32814053, 33845483, 35271311, 36217030
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	31831667
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	IMP	22467853
GO:0006487	Process	Protein N-linked glycosylation	NAS	31831667
GO:0008250	Component	Oligosaccharyltransferase complex	IDA	22467853
GO:0008250	Component	Oligosaccharyltransferase complex	ISS
GO:0008250	Component	Oligosaccharyltransferase complex	NAS	31831667
GO:0008250	Component	Oligosaccharyltransferase complex	TAS	19167329
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IBA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IDA	31296534, 38670073
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IMP	19167329
GO:0018279	Process	Protein N-linked glycosylation via asparagine	ISS
GO:0043687	Process	Post-translational protein modification	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0160226	Component	Oligosaccharyltransferase complex A	IDA	31831667, 36697828, 38670073

MIM	HGNC	e!Ensembl
601134	6172	ENSG00000134910

P46977

Protein name

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit STT3A (Oligosaccharyl transferase subunit STT3A) (STT3-A) (EC 2.4.99.18) (B5) (Integral membrane protein 1) (Transmembrane protein TMC)

Protein function

Catalytic subunit of the oligosaccharyl transferase (OST) complex that catalyzes the initial transfer of a defined glycan (Glc(3)Man(9)GlcNAc(2) in eukaryotes) from the lipid carrier dolichol-pyrophosphate to an asparagine residue within an Asn-

PDB

6S7O , 8B6L , 8PN9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02516	STT3	17 → 484	Oligosaccharyl transferase STT3 subunit	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in placenta, liver, muscle and pancreas, and at very low levels in brain, lung and kidney. Expressed in skin fibroblasts (at protein level). {ECO:0000269|PubMed:12887896}.

Sequence

MTKFGFLRLSYEKQDTLLKLLILSMAAVLSFSTRLFAVLRFESVIHEFDPYFNYRTTRFL
AEEGFYKFHNWFDDRAWYPLGRIIGGTIYPGLMITSAAIYHVLHFFHITIDIRNVCVFLA
PLFSSFTTIVTYHLTKELKDAGAGLLAAAMIAVVPGYISRSVAGSYDNEGIAIFCMLLTY
YMWIKAVKTGSICWAAKCALAYFYMVSSWGGYVFLINLIPLHVLVLMLTGRFSHRIYVAY
CTVYCLGTILSMQISFVGFQPVLSSEHMAAFGVFGLCQIHAFVDYLRSKLNPQQFEVLFR
SVISLVGFVLLTVGALLMLTGKISPWTGRFYSLLDPSYAKNNIPIIASVSEHQPTTWSSY
YFDLQLLVFMFPVGLYYCFSNLSDARIFIIMYGVTSMYFSAVMVRLMLVLAPVMCILSGI
GVSQVLSTYMKNLDISRPDKKSKKQQDSTYPIKNEVASGMILVMAFFLITYTFHSTWVTS
EAYSSPSIVLSARGGDGSRIIFDDFREAYYWLRHNTPEDAKVMSWWDYGYQITAMANRTI
LVDNNTWNNTHISRVGQAMASTEEKAYEIMRELDVSYVLVIFGGLTGYSSDDINKFLWMV
RIGGSTDTGKHIKENDYYTPTGEFRVDREGSPVLLNCLMYKMCYYRFGQVYTEAKRPPGF
DRVRNAEIGNKDFELDVLEEAYTTEHWLVRIYKVKDLDNRGLSRT

Sequence length

705

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways Protein processing in endoplasmic reticulum		Asparagine N-linked glycosylation

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital disorder of glycosylation, type Iw, autosomal dominant	Likely pathogenic; Pathogenic	rs2135921186, rs2135938300, rs780062429, rs759953502	RCV001815048 RCV001815049 RCV001815050 RCV002512488 RCV003225865	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
STT3A-congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs587777216, rs780062429	RCV000088679 RCV004785323	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (16)

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.
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1W	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, AUTOSOMAL RECESSIVE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STT3A-related disorder	Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (44)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	35766008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASDB_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	35444644	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34899684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37468683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27402678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	27402678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	23453885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31812723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1w	Congenital Disorder Of Glycosylation	GENOMICS_ENGLAND_DG	23842455		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1w	Congenital Disorder Of Glycosylation	UNIPROT_DG	23842455		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1w	Congenital Disorder Of Glycosylation	ORPHANET_DG	23842455		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1w	Congenital Disorder Of Glycosylation	BEFREE	30701557		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1w	Congenital Disorder Of Glycosylation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1w	Congenital Disorder Of Glycosylation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	23842455, 28424003		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	23842455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30701557	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	12906855, 21714898		★★★★★ ★☆☆☆☆ Found in Text Mining only
Follicular thyroid carcinoma	Follicular Thyroid Carcinoma	BEFREE	15085203		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	23842455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	30701557	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	31088610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	23842455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of skin	Skin cancer	BEFREE	12906855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27402678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31812723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	31424693		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	32047813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	21926974, 23453885		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	GWASDB_DG	21926974		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	25579050		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	30701557	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	26227733		★★★★★ ★☆☆☆☆ Found in Text Mining only
STT3A-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only

STT3A (STT3 oligosaccharyltransferase complex catalytic subunit A)