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	1650
Gene name	Dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit
Gene symbol	DDOST
Synonyms (NCBI Gene)	AGER1CDG1RGATD6OKSWcl45OSTOST48WBP1
Chromosome	1
Chromosome location	1p36.12
Summary	This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the rough endoplasmic reticulum. The protein complex co-pur

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SNP ID	Visualize variation	Clinical significance	Consequence
rs387906831	C>T	Pathogenic	Coding sequence variant, missense variant
rs867045420	C>A,G	Likely-pathogenic	Missense variant, coding sequence variant

302

Show/Hide all (302)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004128	hsa-miR-192-5p	Microarray	16822819
MIRT047928	hsa-miR-30c-5p	CLASH	23622248
MIRT046554	hsa-let-7i-5p	CLASH	23622248
MIRT042867	hsa-miR-324-3p	CLASH	23622248
MIRT440839	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT440839	hsa-miR-382-5p	HITS-CLIP	24374217
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	26701625
MIRT440839	hsa-miR-382-5p	PAR-CLIP	27292025
MIRT929420	hsa-miR-1208	CLIP-seq
MIRT929421	hsa-miR-1224-3p	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT929423	hsa-miR-1260	CLIP-seq
MIRT929424	hsa-miR-1260b	CLIP-seq
MIRT929425	hsa-miR-1280	CLIP-seq
MIRT929426	hsa-miR-1304	CLIP-seq
MIRT929427	hsa-miR-141	CLIP-seq
MIRT929428	hsa-miR-150	CLIP-seq
MIRT929429	hsa-miR-200a	CLIP-seq
MIRT929430	hsa-miR-3156-3p	CLIP-seq
MIRT929431	hsa-miR-3163	CLIP-seq
MIRT929432	hsa-miR-3199	CLIP-seq
MIRT929433	hsa-miR-3616-3p	CLIP-seq
MIRT929434	hsa-miR-3672	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT929436	hsa-miR-410	CLIP-seq
MIRT929437	hsa-miR-4264	CLIP-seq
MIRT929438	hsa-miR-4302	CLIP-seq
MIRT929439	hsa-miR-4315	CLIP-seq
MIRT929440	hsa-miR-4423-5p	CLIP-seq
MIRT929441	hsa-miR-4446-5p	CLIP-seq
MIRT929442	hsa-miR-4670-3p	CLIP-seq
MIRT929443	hsa-miR-4721	CLIP-seq
MIRT929444	hsa-miR-4733-5p	CLIP-seq
MIRT929445	hsa-miR-4790-5p	CLIP-seq
MIRT929446	hsa-miR-4797-3p	CLIP-seq
MIRT929447	hsa-miR-4797-5p	CLIP-seq
MIRT929448	hsa-miR-548c-3p	CLIP-seq
MIRT929449	hsa-miR-552	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT929451	hsa-miR-662	CLIP-seq
MIRT929452	hsa-miR-720	CLIP-seq
MIRT929453	hsa-miR-760	CLIP-seq
MIRT929454	hsa-miR-764	CLIP-seq
MIRT929455	hsa-miR-924	CLIP-seq
MIRT929421	hsa-miR-1224-3p	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT929423	hsa-miR-1260	CLIP-seq
MIRT929424	hsa-miR-1260b	CLIP-seq
MIRT929425	hsa-miR-1280	CLIP-seq
MIRT929428	hsa-miR-150	CLIP-seq
MIRT1975203	hsa-miR-1976	CLIP-seq
MIRT1975204	hsa-miR-2276	CLIP-seq
MIRT929430	hsa-miR-3156-3p	CLIP-seq
MIRT1975205	hsa-miR-3194-3p	CLIP-seq
MIRT929432	hsa-miR-3199	CLIP-seq
MIRT1975206	hsa-miR-330-3p	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT929437	hsa-miR-4264	CLIP-seq
MIRT1975207	hsa-miR-4279	CLIP-seq
MIRT929438	hsa-miR-4302	CLIP-seq
MIRT1975208	hsa-miR-432	CLIP-seq
MIRT1975209	hsa-miR-4320	CLIP-seq
MIRT929441	hsa-miR-4446-5p	CLIP-seq
MIRT1975210	hsa-miR-4537	CLIP-seq
MIRT1975211	hsa-miR-4695-3p	CLIP-seq
MIRT1975212	hsa-miR-4722-3p	CLIP-seq
MIRT1975213	hsa-miR-4740-3p	CLIP-seq
MIRT1975214	hsa-miR-4763-5p	CLIP-seq
MIRT929446	hsa-miR-4797-3p	CLIP-seq
MIRT1975215	hsa-miR-532-5p	CLIP-seq
MIRT929449	hsa-miR-552	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT929451	hsa-miR-662	CLIP-seq
MIRT929453	hsa-miR-760	CLIP-seq
MIRT929454	hsa-miR-764	CLIP-seq
MIRT929420	hsa-miR-1208	CLIP-seq
MIRT2210575	hsa-miR-122	CLIP-seq
MIRT929421	hsa-miR-1224-3p	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT929423	hsa-miR-1260	CLIP-seq
MIRT929424	hsa-miR-1260b	CLIP-seq
MIRT929425	hsa-miR-1280	CLIP-seq
MIRT2210576	hsa-miR-130a	CLIP-seq
MIRT2210577	hsa-miR-130b	CLIP-seq
MIRT929427	hsa-miR-141	CLIP-seq
MIRT929428	hsa-miR-150	CLIP-seq
MIRT1975203	hsa-miR-1976	CLIP-seq
MIRT929429	hsa-miR-200a	CLIP-seq
MIRT1975204	hsa-miR-2276	CLIP-seq
MIRT2210578	hsa-miR-301a	CLIP-seq
MIRT2210579	hsa-miR-301b	CLIP-seq
MIRT2210580	hsa-miR-3135b	CLIP-seq
MIRT929430	hsa-miR-3156-3p	CLIP-seq
MIRT929432	hsa-miR-3199	CLIP-seq
MIRT2210581	hsa-miR-3652	CLIP-seq
MIRT2210582	hsa-miR-3666	CLIP-seq
MIRT929434	hsa-miR-3672	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT2210583	hsa-miR-3908	CLIP-seq
MIRT2210584	hsa-miR-3942-5p	CLIP-seq
MIRT2210585	hsa-miR-4252	CLIP-seq
MIRT929437	hsa-miR-4264	CLIP-seq
MIRT1975207	hsa-miR-4279	CLIP-seq
MIRT2210586	hsa-miR-4295	CLIP-seq
MIRT929438	hsa-miR-4302	CLIP-seq
MIRT929440	hsa-miR-4423-5p	CLIP-seq
MIRT2210587	hsa-miR-4430	CLIP-seq
MIRT929441	hsa-miR-4446-5p	CLIP-seq
MIRT2210588	hsa-miR-454	CLIP-seq
MIRT1975211	hsa-miR-4695-3p	CLIP-seq
MIRT2210589	hsa-miR-4703-5p	CLIP-seq
MIRT1975212	hsa-miR-4722-3p	CLIP-seq
MIRT1975213	hsa-miR-4740-3p	CLIP-seq
MIRT2210590	hsa-miR-4766-3p	CLIP-seq
MIRT929446	hsa-miR-4797-3p	CLIP-seq
MIRT929447	hsa-miR-4797-5p	CLIP-seq
MIRT929449	hsa-miR-552	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT929451	hsa-miR-662	CLIP-seq
MIRT929453	hsa-miR-760	CLIP-seq
MIRT929454	hsa-miR-764	CLIP-seq
MIRT929455	hsa-miR-924	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT929428	hsa-miR-150	CLIP-seq
MIRT1975203	hsa-miR-1976	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT929437	hsa-miR-4264	CLIP-seq
MIRT929438	hsa-miR-4302	CLIP-seq
MIRT929446	hsa-miR-4797-3p	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT929453	hsa-miR-760	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT929421	hsa-miR-1224-3p	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT929423	hsa-miR-1260	CLIP-seq
MIRT929424	hsa-miR-1260b	CLIP-seq
MIRT929425	hsa-miR-1280	CLIP-seq
MIRT929428	hsa-miR-150	CLIP-seq
MIRT929430	hsa-miR-3156-3p	CLIP-seq
MIRT1975206	hsa-miR-330-3p	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT929437	hsa-miR-4264	CLIP-seq
MIRT929438	hsa-miR-4302	CLIP-seq
MIRT929441	hsa-miR-4446-5p	CLIP-seq
MIRT929446	hsa-miR-4797-3p	CLIP-seq
MIRT2436793	hsa-miR-548aa	CLIP-seq
MIRT2436794	hsa-miR-548p	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT929451	hsa-miR-662	CLIP-seq
MIRT929453	hsa-miR-760	CLIP-seq
MIRT2210575	hsa-miR-122	CLIP-seq
MIRT929421	hsa-miR-1224-3p	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT2514527	hsa-miR-1251	CLIP-seq
MIRT929423	hsa-miR-1260	CLIP-seq
MIRT929424	hsa-miR-1260b	CLIP-seq
MIRT929425	hsa-miR-1280	CLIP-seq
MIRT2514528	hsa-miR-129-5p	CLIP-seq
MIRT2210576	hsa-miR-130a	CLIP-seq
MIRT2210577	hsa-miR-130b	CLIP-seq
MIRT2514529	hsa-miR-147b	CLIP-seq
MIRT929428	hsa-miR-150	CLIP-seq
MIRT1975204	hsa-miR-2276	CLIP-seq
MIRT2210578	hsa-miR-301a	CLIP-seq
MIRT2210579	hsa-miR-301b	CLIP-seq
MIRT2210580	hsa-miR-3135b	CLIP-seq
MIRT2514530	hsa-miR-3148	CLIP-seq
MIRT929430	hsa-miR-3156-3p	CLIP-seq
MIRT929431	hsa-miR-3163	CLIP-seq
MIRT1975205	hsa-miR-3194-3p	CLIP-seq
MIRT929432	hsa-miR-3199	CLIP-seq
MIRT1975206	hsa-miR-330-3p	CLIP-seq
MIRT2210581	hsa-miR-3652	CLIP-seq
MIRT2210582	hsa-miR-3666	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT2210583	hsa-miR-3908	CLIP-seq
MIRT2210584	hsa-miR-3942-5p	CLIP-seq
MIRT2514531	hsa-miR-3973	CLIP-seq
MIRT929436	hsa-miR-410	CLIP-seq
MIRT2210585	hsa-miR-4252	CLIP-seq
MIRT929437	hsa-miR-4264	CLIP-seq
MIRT2210586	hsa-miR-4295	CLIP-seq
MIRT929438	hsa-miR-4302	CLIP-seq
MIRT929440	hsa-miR-4423-5p	CLIP-seq
MIRT2210587	hsa-miR-4430	CLIP-seq
MIRT929441	hsa-miR-4446-5p	CLIP-seq
MIRT2514532	hsa-miR-4496	CLIP-seq
MIRT2210588	hsa-miR-454	CLIP-seq
MIRT2514533	hsa-miR-4667-3p	CLIP-seq
MIRT1975211	hsa-miR-4695-3p	CLIP-seq
MIRT2210589	hsa-miR-4703-5p	CLIP-seq
MIRT929443	hsa-miR-4721	CLIP-seq
MIRT929444	hsa-miR-4733-5p	CLIP-seq
MIRT2514534	hsa-miR-4735-5p	CLIP-seq
MIRT1975213	hsa-miR-4740-3p	CLIP-seq
MIRT2210590	hsa-miR-4766-3p	CLIP-seq
MIRT2514535	hsa-miR-4775	CLIP-seq
MIRT2514536	hsa-miR-4796-3p	CLIP-seq
MIRT929446	hsa-miR-4797-3p	CLIP-seq
MIRT2514537	hsa-miR-502-5p	CLIP-seq
MIRT2514538	hsa-miR-520g	CLIP-seq
MIRT2514539	hsa-miR-520h	CLIP-seq
MIRT2436793	hsa-miR-548aa	CLIP-seq
MIRT2514540	hsa-miR-548ae	CLIP-seq
MIRT2514541	hsa-miR-548aj	CLIP-seq
MIRT2514542	hsa-miR-548am	CLIP-seq
MIRT929448	hsa-miR-548c-3p	CLIP-seq
MIRT2436794	hsa-miR-548p	CLIP-seq
MIRT2514543	hsa-miR-548x	CLIP-seq
MIRT929449	hsa-miR-552	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT2514544	hsa-miR-590-3p	CLIP-seq
MIRT2514545	hsa-miR-658	CLIP-seq
MIRT929451	hsa-miR-662	CLIP-seq
MIRT929453	hsa-miR-760	CLIP-seq
MIRT929454	hsa-miR-764	CLIP-seq
MIRT929420	hsa-miR-1208	CLIP-seq
MIRT2210575	hsa-miR-122	CLIP-seq
MIRT929421	hsa-miR-1224-3p	CLIP-seq
MIRT929422	hsa-miR-1227	CLIP-seq
MIRT2514527	hsa-miR-1251	CLIP-seq
MIRT929423	hsa-miR-1260	CLIP-seq
MIRT929424	hsa-miR-1260b	CLIP-seq
MIRT929425	hsa-miR-1280	CLIP-seq
MIRT2514528	hsa-miR-129-5p	CLIP-seq
MIRT2210576	hsa-miR-130a	CLIP-seq
MIRT2210577	hsa-miR-130b	CLIP-seq
MIRT929427	hsa-miR-141	CLIP-seq
MIRT2514529	hsa-miR-147b	CLIP-seq
MIRT929428	hsa-miR-150	CLIP-seq
MIRT1975203	hsa-miR-1976	CLIP-seq
MIRT929429	hsa-miR-200a	CLIP-seq
MIRT1975204	hsa-miR-2276	CLIP-seq
MIRT2210578	hsa-miR-301a	CLIP-seq
MIRT2210579	hsa-miR-301b	CLIP-seq
MIRT2210580	hsa-miR-3135b	CLIP-seq
MIRT2514530	hsa-miR-3148	CLIP-seq
MIRT929430	hsa-miR-3156-3p	CLIP-seq
MIRT929431	hsa-miR-3163	CLIP-seq
MIRT1975205	hsa-miR-3194-3p	CLIP-seq
MIRT929432	hsa-miR-3199	CLIP-seq
MIRT1975206	hsa-miR-330-3p	CLIP-seq
MIRT2210581	hsa-miR-3652	CLIP-seq
MIRT2210582	hsa-miR-3666	CLIP-seq
MIRT929435	hsa-miR-382	CLIP-seq
MIRT2210583	hsa-miR-3908	CLIP-seq
MIRT2210584	hsa-miR-3942-5p	CLIP-seq
MIRT2679141	hsa-miR-3943	CLIP-seq
MIRT2514531	hsa-miR-3973	CLIP-seq
MIRT929436	hsa-miR-410	CLIP-seq
MIRT2210585	hsa-miR-4252	CLIP-seq
MIRT929437	hsa-miR-4264	CLIP-seq
MIRT1975207	hsa-miR-4279	CLIP-seq
MIRT2210586	hsa-miR-4295	CLIP-seq
MIRT929438	hsa-miR-4302	CLIP-seq
MIRT1975208	hsa-miR-432	CLIP-seq
MIRT1975209	hsa-miR-4320	CLIP-seq
MIRT2679142	hsa-miR-4323	CLIP-seq
MIRT929440	hsa-miR-4423-5p	CLIP-seq
MIRT2210587	hsa-miR-4430	CLIP-seq
MIRT929441	hsa-miR-4446-5p	CLIP-seq
MIRT2514532	hsa-miR-4496	CLIP-seq
MIRT2210588	hsa-miR-454	CLIP-seq
MIRT2514533	hsa-miR-4667-3p	CLIP-seq
MIRT1975211	hsa-miR-4695-3p	CLIP-seq
MIRT2210589	hsa-miR-4703-5p	CLIP-seq
MIRT929443	hsa-miR-4721	CLIP-seq
MIRT1975212	hsa-miR-4722-3p	CLIP-seq
MIRT929444	hsa-miR-4733-5p	CLIP-seq
MIRT2514534	hsa-miR-4735-5p	CLIP-seq
MIRT2210590	hsa-miR-4766-3p	CLIP-seq
MIRT2514535	hsa-miR-4775	CLIP-seq
MIRT2514536	hsa-miR-4796-3p	CLIP-seq
MIRT929446	hsa-miR-4797-3p	CLIP-seq
MIRT2514537	hsa-miR-502-5p	CLIP-seq
MIRT2514538	hsa-miR-520g	CLIP-seq
MIRT2514539	hsa-miR-520h	CLIP-seq
MIRT1975215	hsa-miR-532-5p	CLIP-seq
MIRT2436793	hsa-miR-548aa	CLIP-seq
MIRT2514540	hsa-miR-548ae	CLIP-seq
MIRT2514541	hsa-miR-548aj	CLIP-seq
MIRT2514542	hsa-miR-548am	CLIP-seq
MIRT929448	hsa-miR-548c-3p	CLIP-seq
MIRT2436794	hsa-miR-548p	CLIP-seq
MIRT2514543	hsa-miR-548x	CLIP-seq
MIRT929449	hsa-miR-552	CLIP-seq
MIRT929450	hsa-miR-561	CLIP-seq
MIRT2514544	hsa-miR-590-3p	CLIP-seq
MIRT2514545	hsa-miR-658	CLIP-seq
MIRT929451	hsa-miR-662	CLIP-seq
MIRT929453	hsa-miR-760	CLIP-seq
MIRT929454	hsa-miR-764	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21903422, 29765154
GO:0005783	Component	Endoplasmic reticulum	IDA
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:0005886	Component	Plasma membrane	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	ISS
GO:0006487	Process	Protein N-linked glycosylation	IDA	9642163
GO:0008047	Function	Enzyme activator activity	IMP	22467853
GO:0008250	Component	Oligosaccharyltransferase complex	IBA
GO:0008250	Component	Oligosaccharyltransferase complex	IDA	9642163, 22467853
GO:0008250	Component	Oligosaccharyltransferase complex	IPI	31831667
GO:0008250	Component	Oligosaccharyltransferase complex	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IBA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	IMP	22467853
GO:0031647	Process	Regulation of protein stability	IMP	22467853
GO:0034097	Process	Response to cytokine	IDA	9642163
GO:0035577	Component	Azurophil granule membrane	TAS
GO:0042110	Process	T cell activation	IDA	9642163
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	9642163
GO:0160226	Component	Oligosaccharyltransferase complex A	IDA	31831667, 36697828, 38670073
GO:0160227	Component	Oligosaccharyltransferase complex B	IDA	31831667

MIM	HGNC	e!Ensembl
602202	2728	ENSG00000244038

P39656

Protein name

Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit (DDOST 48 kDa subunit) (Oligosaccharyl transferase 48 kDa subunit)

Protein function

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-X-Ser/Thr

PDB

6S7O , 6S7T , 8B6L , 8PN9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03345	DDOST_48kD	47 → 456	Oligosaccharyltransferase 48 kDa subunit beta	Family

Sequence

MGYFRCARAGSFGRRRKMEPSTAARAWALFWLLLPLLGAVCASGPRTLVLLDNLNVRETH
SLFFRSLKDRGFELTFKTADDPSLSLIKYGEFLYDNLIIFSPSVEDFGGNINVETISAFI
DGGGSVLVAASSDIGDPLRELGSECGIEFDEEKTAVIDHHNYDISDLGQHTLIVADTENL
LKAPTIVGKSSLNPILFRGVGMVADPDNPLVLDILTGSSTSYSFFPDKPITQYPHAVGKN
TLLIAGLQARNNARVIFSGSLDFFSDSFFNSAVQKAAPGSQRYSQTGNYELAVALSRWVF
KEEGVLRVGPVSHHRVGETAPPNAYTVTDLVEYSIVIQQLSNGKWVPFDGDDIQLEFVRI
DPFVRTFLKKKGGKYSVQFKLPDVYGVFQFKVDYNRLGYTHLYSSTQVSVRPLQHTQYER
FIPSAYPYYASAFSMMLGLFIFSIVFLHMKEKEKSD

Sequence length

456

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 Neutrophil degranulation

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 (1)

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 Ir	Pathogenic; Likely pathogenic	rs587776874, rs387906831, rs867045420	RCV000023169 RCV000023170 RCV000626165	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (26)

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.
Cervical cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1R	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DDOST-CDG	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DDOST-CONGENITAL DISORDER OF GLYCOSYLATION	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DDOST-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (55)

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
Blood Coagulation Disorders	Blood Coagulation Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29068471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	39223141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19820033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32031046	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1r	Congenital disorder of glycosylation	ORPHANET_DG	22305527		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1r	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG	22305527		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1r	Congenital disorder of glycosylation	UNIPROT_DG	22305527		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1r	Congenital disorder of glycosylation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1r	Congenital disorder of glycosylation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	22305527		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	22305527, 23842455, 37848450, 39223141	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DDOST-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	31541173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	18032526, 21709297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31541173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	29027826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	38139276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	20490454, 29027826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	29027826	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	20490454, 31541173		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28947796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35812432, 37606290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	28103688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	21709297	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	19820033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	27876828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29068471		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31028291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21325287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	27301979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	38139276	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oromotor apraxia	Oromotor apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	27210803, 28198975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10697522, 15138570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	39223141	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	31160611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	31160611	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary Hypothyroidism	Hypothyroidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31028291		★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	29027826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28947796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29739919	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	19955485		★★★★★ ★☆☆☆☆ Found in Text Mining only

DDOST (dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit)