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	1798
Gene name	Dolichyl-phosphate N-acetylglucosaminephosphotransferase 1
Gene symbol	DPAGT1
Synonyms (NCBI Gene)	ALG7CDG-IjCDG1JCMS13CMSTA2D11S366DGPTDPAGTDPAGT2G1PTGPTUAGTUGAT
Chromosome	11
Chromosome location	11q23.3
Summary	The protein encoded by this gene is an enzyme that catalyzes the first step in the dolichol-linked oligosaccharide pathway for glycoprotein biosynthesis. This enzyme belongs to the glycosyltransferase family 4. This protein is an integral membrane protein

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138544311	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity, not-provided	Coding sequence variant, intron variant, missense variant, 3 prime UTR variant, non coding transcript variant
rs387907245	A>C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs397515321	->G	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs772988029	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1450090350	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

223

Show/Hide all (223)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027764	hsa-miR-98-5p	Microarray	19088304
MIRT943610	hsa-let-7a	CLIP-seq
MIRT943611	hsa-let-7b	CLIP-seq
MIRT943612	hsa-let-7c	CLIP-seq
MIRT943613	hsa-let-7d	CLIP-seq
MIRT943614	hsa-let-7e	CLIP-seq
MIRT943615	hsa-let-7f	CLIP-seq
MIRT943616	hsa-let-7g	CLIP-seq
MIRT943617	hsa-let-7i	CLIP-seq
MIRT943618	hsa-miR-105	CLIP-seq
MIRT943619	hsa-miR-1224-3p	CLIP-seq
MIRT943620	hsa-miR-1260	CLIP-seq
MIRT943621	hsa-miR-1260b	CLIP-seq
MIRT943622	hsa-miR-1261	CLIP-seq
MIRT943623	hsa-miR-1280	CLIP-seq
MIRT943624	hsa-miR-1285	CLIP-seq
MIRT943625	hsa-miR-1294	CLIP-seq
MIRT943626	hsa-miR-1827	CLIP-seq
MIRT943627	hsa-miR-202	CLIP-seq
MIRT943628	hsa-miR-203	CLIP-seq
MIRT943629	hsa-miR-2116	CLIP-seq
MIRT943630	hsa-miR-2682	CLIP-seq
MIRT943631	hsa-miR-3168	CLIP-seq
MIRT943632	hsa-miR-3173-3p	CLIP-seq
MIRT943633	hsa-miR-3187-5p	CLIP-seq
MIRT943634	hsa-miR-3192	CLIP-seq
MIRT943635	hsa-miR-320a	CLIP-seq
MIRT943636	hsa-miR-320b	CLIP-seq
MIRT943637	hsa-miR-320c	CLIP-seq
MIRT943638	hsa-miR-320d	CLIP-seq
MIRT943639	hsa-miR-3612	CLIP-seq
MIRT943640	hsa-miR-3613-3p	CLIP-seq
MIRT943641	hsa-miR-3649	CLIP-seq
MIRT943642	hsa-miR-3659	CLIP-seq
MIRT943643	hsa-miR-3691-5p	CLIP-seq
MIRT943644	hsa-miR-3713	CLIP-seq
MIRT943645	hsa-miR-3911	CLIP-seq
MIRT943646	hsa-miR-4293	CLIP-seq
MIRT943647	hsa-miR-4313	CLIP-seq
MIRT943648	hsa-miR-4314	CLIP-seq
MIRT943649	hsa-miR-4316	CLIP-seq
MIRT943650	hsa-miR-4429	CLIP-seq
MIRT943651	hsa-miR-4458	CLIP-seq
MIRT943652	hsa-miR-449c	CLIP-seq
MIRT943653	hsa-miR-4500	CLIP-seq
MIRT943654	hsa-miR-4646-5p	CLIP-seq
MIRT943655	hsa-miR-4658	CLIP-seq
MIRT943656	hsa-miR-4677-3p	CLIP-seq
MIRT943657	hsa-miR-4695-5p	CLIP-seq
MIRT943658	hsa-miR-4709-3p	CLIP-seq
MIRT943659	hsa-miR-4718	CLIP-seq
MIRT943660	hsa-miR-4733-5p	CLIP-seq
MIRT943661	hsa-miR-4752	CLIP-seq
MIRT943662	hsa-miR-4766-5p	CLIP-seq
MIRT943663	hsa-miR-4775	CLIP-seq
MIRT943664	hsa-miR-516b	CLIP-seq
MIRT943665	hsa-miR-550b	CLIP-seq
MIRT943666	hsa-miR-574-5p	CLIP-seq
MIRT943667	hsa-miR-612	CLIP-seq
MIRT943668	hsa-miR-622	CLIP-seq
MIRT943669	hsa-miR-650	CLIP-seq
MIRT943670	hsa-miR-661	CLIP-seq
MIRT943671	hsa-miR-663b	CLIP-seq
MIRT943672	hsa-miR-765	CLIP-seq
MIRT943673	hsa-miR-873	CLIP-seq
MIRT943674	hsa-miR-98	CLIP-seq
MIRT1548010	hsa-miR-199a-3p	CLIP-seq
MIRT1548011	hsa-miR-199b-3p	CLIP-seq
MIRT1548012	hsa-miR-3129-5p	CLIP-seq
MIRT1548013	hsa-miR-4668-3p	CLIP-seq
MIRT1548014	hsa-miR-936	CLIP-seq
MIRT943610	hsa-let-7a	CLIP-seq
MIRT943611	hsa-let-7b	CLIP-seq
MIRT943612	hsa-let-7c	CLIP-seq
MIRT943613	hsa-let-7d	CLIP-seq
MIRT943614	hsa-let-7e	CLIP-seq
MIRT943615	hsa-let-7f	CLIP-seq
MIRT943616	hsa-let-7g	CLIP-seq
MIRT943617	hsa-let-7i	CLIP-seq
MIRT1979441	hsa-miR-129-3p	CLIP-seq
MIRT943625	hsa-miR-1294	CLIP-seq
MIRT943626	hsa-miR-1827	CLIP-seq
MIRT1548010	hsa-miR-199a-3p	CLIP-seq
MIRT1548011	hsa-miR-199b-3p	CLIP-seq
MIRT943627	hsa-miR-202	CLIP-seq
MIRT1979442	hsa-miR-214	CLIP-seq
MIRT1979443	hsa-miR-2467-3p	CLIP-seq
MIRT943630	hsa-miR-2682	CLIP-seq
MIRT1979444	hsa-miR-31	CLIP-seq
MIRT1548012	hsa-miR-3129-5p	CLIP-seq
MIRT1979445	hsa-miR-3136-3p	CLIP-seq
MIRT943631	hsa-miR-3168	CLIP-seq
MIRT943632	hsa-miR-3173-3p	CLIP-seq
MIRT943634	hsa-miR-3192	CLIP-seq
MIRT943639	hsa-miR-3612	CLIP-seq
MIRT1979446	hsa-miR-3616-3p	CLIP-seq
MIRT1979447	hsa-miR-3619-5p	CLIP-seq
MIRT943641	hsa-miR-3649	CLIP-seq
MIRT1979448	hsa-miR-384	CLIP-seq
MIRT1979449	hsa-miR-3919	CLIP-seq
MIRT1979450	hsa-miR-4291	CLIP-seq
MIRT943646	hsa-miR-4293	CLIP-seq
MIRT943648	hsa-miR-4314	CLIP-seq
MIRT943649	hsa-miR-4316	CLIP-seq
MIRT1979451	hsa-miR-4326	CLIP-seq
MIRT943651	hsa-miR-4458	CLIP-seq
MIRT943652	hsa-miR-449c	CLIP-seq
MIRT943653	hsa-miR-4500	CLIP-seq
MIRT943654	hsa-miR-4646-5p	CLIP-seq
MIRT1548013	hsa-miR-4668-3p	CLIP-seq
MIRT943656	hsa-miR-4677-3p	CLIP-seq
MIRT1979452	hsa-miR-4687-5p	CLIP-seq
MIRT943657	hsa-miR-4695-5p	CLIP-seq
MIRT943660	hsa-miR-4733-5p	CLIP-seq
MIRT943668	hsa-miR-622	CLIP-seq
MIRT943669	hsa-miR-650	CLIP-seq
MIRT1979453	hsa-miR-761	CLIP-seq
MIRT943673	hsa-miR-873	CLIP-seq
MIRT1979454	hsa-miR-922	CLIP-seq
MIRT1548014	hsa-miR-936	CLIP-seq
MIRT943674	hsa-miR-98	CLIP-seq
MIRT943610	hsa-let-7a	CLIP-seq
MIRT943611	hsa-let-7b	CLIP-seq
MIRT943612	hsa-let-7c	CLIP-seq
MIRT943613	hsa-let-7d	CLIP-seq
MIRT943614	hsa-let-7e	CLIP-seq
MIRT943615	hsa-let-7f	CLIP-seq
MIRT943616	hsa-let-7g	CLIP-seq
MIRT943617	hsa-let-7i	CLIP-seq
MIRT943625	hsa-miR-1294	CLIP-seq
MIRT1548010	hsa-miR-199a-3p	CLIP-seq
MIRT1548011	hsa-miR-199b-3p	CLIP-seq
MIRT943627	hsa-miR-202	CLIP-seq
MIRT943628	hsa-miR-203	CLIP-seq
MIRT1979442	hsa-miR-214	CLIP-seq
MIRT1979443	hsa-miR-2467-3p	CLIP-seq
MIRT2214548	hsa-miR-298	CLIP-seq
MIRT1979444	hsa-miR-31	CLIP-seq
MIRT1548012	hsa-miR-3129-5p	CLIP-seq
MIRT1979446	hsa-miR-3616-3p	CLIP-seq
MIRT1979447	hsa-miR-3619-5p	CLIP-seq
MIRT2214549	hsa-miR-3678-3p	CLIP-seq
MIRT1979450	hsa-miR-4291	CLIP-seq
MIRT943646	hsa-miR-4293	CLIP-seq
MIRT943649	hsa-miR-4316	CLIP-seq
MIRT2214550	hsa-miR-4436a	CLIP-seq
MIRT943651	hsa-miR-4458	CLIP-seq
MIRT943653	hsa-miR-4500	CLIP-seq
MIRT2214551	hsa-miR-451b	CLIP-seq
MIRT2214552	hsa-miR-4522	CLIP-seq
MIRT943656	hsa-miR-4677-3p	CLIP-seq
MIRT2214553	hsa-miR-4714-5p	CLIP-seq
MIRT943662	hsa-miR-4766-5p	CLIP-seq
MIRT1979453	hsa-miR-761	CLIP-seq
MIRT943673	hsa-miR-873	CLIP-seq
MIRT1979454	hsa-miR-922	CLIP-seq
MIRT1548014	hsa-miR-936	CLIP-seq
MIRT943674	hsa-miR-98	CLIP-seq
MIRT943622	hsa-miR-1261	CLIP-seq
MIRT1979441	hsa-miR-129-3p	CLIP-seq
MIRT2518825	hsa-miR-140-5p	CLIP-seq
MIRT2518826	hsa-miR-185	CLIP-seq
MIRT943628	hsa-miR-203	CLIP-seq
MIRT1979445	hsa-miR-3136-3p	CLIP-seq
MIRT943631	hsa-miR-3168	CLIP-seq
MIRT943640	hsa-miR-3613-3p	CLIP-seq
MIRT943642	hsa-miR-3659	CLIP-seq
MIRT943643	hsa-miR-3691-5p	CLIP-seq
MIRT1979448	hsa-miR-384	CLIP-seq
MIRT943645	hsa-miR-3911	CLIP-seq
MIRT2518827	hsa-miR-4306	CLIP-seq
MIRT1979451	hsa-miR-4326	CLIP-seq
MIRT2518828	hsa-miR-4419a	CLIP-seq
MIRT2214550	hsa-miR-4436a	CLIP-seq
MIRT2518829	hsa-miR-4510	CLIP-seq
MIRT2214552	hsa-miR-4522	CLIP-seq
MIRT2518830	hsa-miR-4534	CLIP-seq
MIRT2518831	hsa-miR-4644	CLIP-seq
MIRT943655	hsa-miR-4658	CLIP-seq
MIRT1979452	hsa-miR-4687-5p	CLIP-seq
MIRT2518832	hsa-miR-4693-3p	CLIP-seq
MIRT2214553	hsa-miR-4714-5p	CLIP-seq
MIRT943660	hsa-miR-4733-5p	CLIP-seq
MIRT943661	hsa-miR-4752	CLIP-seq
MIRT943662	hsa-miR-4766-5p	CLIP-seq
MIRT2518833	hsa-miR-502-5p	CLIP-seq
MIRT2518834	hsa-miR-548aa	CLIP-seq
MIRT2518835	hsa-miR-548ac	CLIP-seq
MIRT2518836	hsa-miR-548d-3p	CLIP-seq
MIRT2518837	hsa-miR-548z	CLIP-seq
MIRT943666	hsa-miR-574-5p	CLIP-seq
MIRT943622	hsa-miR-1261	CLIP-seq
MIRT1979441	hsa-miR-129-3p	CLIP-seq
MIRT2518825	hsa-miR-140-5p	CLIP-seq
MIRT943628	hsa-miR-203	CLIP-seq
MIRT1979445	hsa-miR-3136-3p	CLIP-seq
MIRT943631	hsa-miR-3168	CLIP-seq
MIRT943635	hsa-miR-320a	CLIP-seq
MIRT943636	hsa-miR-320b	CLIP-seq
MIRT943637	hsa-miR-320c	CLIP-seq
MIRT943638	hsa-miR-320d	CLIP-seq
MIRT943640	hsa-miR-3613-3p	CLIP-seq
MIRT943642	hsa-miR-3659	CLIP-seq
MIRT943643	hsa-miR-3691-5p	CLIP-seq
MIRT1979448	hsa-miR-384	CLIP-seq
MIRT943645	hsa-miR-3911	CLIP-seq
MIRT1979451	hsa-miR-4326	CLIP-seq
MIRT943650	hsa-miR-4429	CLIP-seq
MIRT2214550	hsa-miR-4436a	CLIP-seq
MIRT2214552	hsa-miR-4522	CLIP-seq
MIRT943655	hsa-miR-4658	CLIP-seq
MIRT1979452	hsa-miR-4687-5p	CLIP-seq
MIRT2518832	hsa-miR-4693-3p	CLIP-seq
MIRT2214553	hsa-miR-4714-5p	CLIP-seq
MIRT943660	hsa-miR-4733-5p	CLIP-seq
MIRT943661	hsa-miR-4752	CLIP-seq
MIRT943662	hsa-miR-4766-5p	CLIP-seq
MIRT2518833	hsa-miR-502-5p	CLIP-seq
MIRT2518834	hsa-miR-548aa	CLIP-seq
MIRT2518835	hsa-miR-548ac	CLIP-seq
MIRT2518836	hsa-miR-548d-3p	CLIP-seq
MIRT2518837	hsa-miR-548z	CLIP-seq
MIRT943666	hsa-miR-574-5p	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003975	Function	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IBA
GO:0003975	Function	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IDA	8179616, 29459785
GO:0003975	Function	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IEA
GO:0003975	Function	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	IMP	12872255
GO:0003975	Function	UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity	TAS
GO:0003976	Function	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity	IDA	6289658
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	IMP	19549906
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IDA	29459785
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IEA
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	TAS
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IDA	8179616
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016780	Function	Phosphotransferase activity, for other substituted phosphate groups	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	12872255
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
191350	2995	ENSG00000172269

Q9H3H5

Protein name

UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (EC 2.7.8.15) (GlcNAc-1-P transferase) (G1PT) (GPT) (N-acetylglucosamine-1-phosphate transferase)

Protein function

UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly

PDB

5LEV , 5O5E , 6BW5 , 6BW6 , 6FM9 , 6FWZ , 6JQ3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00953	Glycos_transf_4	98 → 270	Glycosyl transferase family 4	Family

Sequence

MWAFSELPMPLLINLIVSLLGFVATVTLIPAFRGHFIAARLCGQDLNKTSRQQIPESQGV
ISGAVFLIILFCFIPFPFLNCFVKEQCKAFPHHEFVALIGALLAICCMIFLGFADDVLNL
RWRHKLLLPTAASLPLLMVYFTNFGNTTIVVPKPFRPILGLHLDLGILYYVYMGLLAVFC
TNAINILAGINGLEAGQSLVISASIIVFNLVELEGDCRDDHVFSLYFMIPFFFTTLGLLY
HNWYPSRVFVGDTFCYFAGMTFAVVGILGHFSKTMLLFFMPQVFNFLYSLPQLLHIIPCP
RHRIPRLNIKTGKLEMSYSKFKTKSLSFLGTFILKVAESLQLVTVHQSETEDGEFTECNN
MTLINLLLKVLGPIHERNLTLLLLLLQILGSAITFSIRYQLVRLFYDV

Sequence length

408

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Metabolic pathways		Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective DPAGT1 causes DPAGT1-CDG (CDG-1j) and CMSTA2

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs768416381	RCV001814361	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs1185483085, rs768656482, rs397515327, rs1946406410, rs1210999092, rs777142166, rs1946508324, rs1946512581	RCV001291276 RCV001291076 RCV001291448 RCV001291273 RCV001291451 RCV001291400 RCV001291452 RCV001291447 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome 13	Likely pathogenic; Pathogenic	rs768416381, rs2134898234, rs1946485389, rs776720609, rs2134901573, rs2134903748, rs2134919748, rs1403123573, rs762750243, rs2497529439, rs2497501143, rs1057521151, rs387907243, rs376039938, rs397515321 View all (6 more)	RCV002568239 RCV001730009 RCV001808077 RCV001877426 RCV002035235 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DPAGT1-congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs768416381, rs776720609, rs2134901573, rs2134903748, rs2134919748, rs2134910617, rs2497528475, rs762750243, rs2497529439, rs2497501143, rs1057521151, rs387907243, rs376039938, rs397515321, rs397514586 View all (9 more)	RCV003987875 RCV001877426 RCV002035235 RCV002000274 RCV001951610 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy with tubular aggregates	Pathogenic	rs972565409	RCV004587622	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

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.
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1J	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYASTHENIC SYNDROME WITH GLYCOSYLATION DEFECT	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DPAGT1-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 13	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROMES, CONGENITAL	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBULAR AGGREGATE MYOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (73)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute intermittent porphyria	Intermittent Porphyria	BEFREE	16828319		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	26033833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23249953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37463446	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	19549906	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	25944804		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	25944804		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1J	Congenital disorder of glycosylation	BEFREE	12872255, 22304930, 23591138		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1J	Congenital disorder of glycosylation	UNIPROT_DG	12872255, 30388443		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1J	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG	22492991, 25500013, 27604308, 30653653		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1J	Congenital disorder of glycosylation	Pubtator	23591138	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1J	Congenital disorder of glycosylation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1J	Congenital disorder of glycosylation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital disorder of glycosylation type 1s	Congenital disorder of glycosylation	BEFREE	23249953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	23249953, 25500013, 26033833, 28662078, 31153949		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	23249953, 26805780, 33407696	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myasthenic syndromes with glycosylation defect	Congenital Myasthenic Syndromes With Glycosylation Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Myasthenic Syndromes, Postsynaptic	Myasthenic Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Myasthenic Syndromes, Presynaptic	Myasthenic Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
DPAGT1-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	23249953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial Dysmorphism with Multiple Malformations	Facial dysmorphism syndrome	Pubtator	23249953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	29420088		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	23249953, 24759841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24759841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lambert-Eaton Myasthenic Syndrome	Lambert-Eaton Myasthenic Syndrome	BEFREE	24759841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	19549906, 22341307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31519321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	19549906, 22341307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	Pubtator	23249953	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	19549906, 22341307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	BEFREE	19634183		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	23404334, 23591138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	BEFREE	24759841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndrome	Myasthenic Syndrome	BEFREE	24759841		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 13	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	22492991, 22742743, 25500013, 27604308, 30653653		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 13	Myasthenic Syndrome	UNIPROT_DG	22742743, 30388443		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 13	Myasthenic Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	22742743, 23404334, 23447650, 23591138, 24759841, 26789134, 37721175	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	22742743, 23278575, 23447650, 23569079, 23591138, 26789134, 27941137, 28662078, 30388443		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital, Slow Channel	Myasthenic Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	27941137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22341307, 31519321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	23447650	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	26857995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32886511	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pena-Shokeir syndrome type I	Pena Shokeir syndrome	BEFREE	26033833		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	23249953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19549906, 22341307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19549906, 22341307, 23703614, 32901097	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Type II Mucolipidosis	Mucolipidosis	BEFREE	26857995		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32306508	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)