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	85365
Gene name	ALG2 alpha-1,3/1,6-mannosyltransferase
Gene symbol	ALG2
Synonyms (NCBI Gene)	CDG1ICDGIiCMS14CMSTA3NET38hALPG2
Chromosome	9
Chromosome location	9q22.33
Summary	This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diph

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387906281	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs730880304	C>A,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, synonymous variant

252

Show/Hide all (252)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023051	hsa-miR-124-3p	Microarray	18668037
MIRT023983	hsa-miR-1-3p	Proteomics	18668040
MIRT027167	hsa-miR-103a-3p	Sequencing	20371350
MIRT031276	hsa-miR-19b-3p	Sequencing	20371350
MIRT031868	hsa-miR-16-5p	Proteomics	18668040
MIRT728356	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT031276	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT778439	hsa-let-7a	CLIP-seq
MIRT778440	hsa-let-7b	CLIP-seq
MIRT778441	hsa-let-7c	CLIP-seq
MIRT778442	hsa-let-7d	CLIP-seq
MIRT778443	hsa-let-7e	CLIP-seq
MIRT778444	hsa-let-7f	CLIP-seq
MIRT778445	hsa-let-7g	CLIP-seq
MIRT778446	hsa-let-7i	CLIP-seq
MIRT778447	hsa-miR-1	CLIP-seq
MIRT778448	hsa-miR-1236	CLIP-seq
MIRT778449	hsa-miR-124	CLIP-seq
MIRT778450	hsa-miR-1245b-3p	CLIP-seq
MIRT778451	hsa-miR-1246	CLIP-seq
MIRT778452	hsa-miR-1258	CLIP-seq
MIRT778453	hsa-miR-1305	CLIP-seq
MIRT778454	hsa-miR-1321	CLIP-seq
MIRT778455	hsa-miR-141	CLIP-seq
MIRT778456	hsa-miR-144	CLIP-seq
MIRT778457	hsa-miR-181a	CLIP-seq
MIRT778458	hsa-miR-181b	CLIP-seq
MIRT778459	hsa-miR-181c	CLIP-seq
MIRT778460	hsa-miR-181d	CLIP-seq
MIRT778461	hsa-miR-19a	CLIP-seq
MIRT778462	hsa-miR-19b	CLIP-seq
MIRT778463	hsa-miR-200a	CLIP-seq
MIRT778464	hsa-miR-202	CLIP-seq
MIRT778465	hsa-miR-206	CLIP-seq
MIRT778466	hsa-miR-23a	CLIP-seq
MIRT778467	hsa-miR-23b	CLIP-seq
MIRT778468	hsa-miR-23c	CLIP-seq
MIRT778469	hsa-miR-24	CLIP-seq
MIRT778470	hsa-miR-3128	CLIP-seq
MIRT778471	hsa-miR-3138	CLIP-seq
MIRT778472	hsa-miR-3156-5p	CLIP-seq
MIRT778473	hsa-miR-3165	CLIP-seq
MIRT778474	hsa-miR-3182	CLIP-seq
MIRT778475	hsa-miR-3185	CLIP-seq
MIRT778476	hsa-miR-3192	CLIP-seq
MIRT778477	hsa-miR-3673	CLIP-seq
MIRT778478	hsa-miR-3689d	CLIP-seq
MIRT778479	hsa-miR-3714	CLIP-seq
MIRT778480	hsa-miR-3910	CLIP-seq
MIRT778481	hsa-miR-3929	CLIP-seq
MIRT778482	hsa-miR-3938	CLIP-seq
MIRT778483	hsa-miR-3941	CLIP-seq
MIRT778484	hsa-miR-3942-5p	CLIP-seq
MIRT778485	hsa-miR-3976	CLIP-seq
MIRT778486	hsa-miR-4262	CLIP-seq
MIRT778487	hsa-miR-4264	CLIP-seq
MIRT778488	hsa-miR-4270	CLIP-seq
MIRT778489	hsa-miR-4282	CLIP-seq
MIRT778490	hsa-miR-4284	CLIP-seq
MIRT778491	hsa-miR-4302	CLIP-seq
MIRT778492	hsa-miR-4314	CLIP-seq
MIRT778493	hsa-miR-4419b	CLIP-seq
MIRT778494	hsa-miR-4432	CLIP-seq
MIRT778495	hsa-miR-4436a	CLIP-seq
MIRT778496	hsa-miR-4441	CLIP-seq
MIRT778497	hsa-miR-4458	CLIP-seq
MIRT778498	hsa-miR-4464	CLIP-seq
MIRT778499	hsa-miR-4470	CLIP-seq
MIRT778500	hsa-miR-4478	CLIP-seq
MIRT778501	hsa-miR-4496	CLIP-seq
MIRT778502	hsa-miR-4500	CLIP-seq
MIRT778503	hsa-miR-452	CLIP-seq
MIRT778504	hsa-miR-4520a-3p	CLIP-seq
MIRT778505	hsa-miR-4536	CLIP-seq
MIRT778506	hsa-miR-4639-3p	CLIP-seq
MIRT778507	hsa-miR-4645-3p	CLIP-seq
MIRT778508	hsa-miR-4646-5p	CLIP-seq
MIRT778509	hsa-miR-466	CLIP-seq
MIRT778510	hsa-miR-4672	CLIP-seq
MIRT778511	hsa-miR-4676-3p	CLIP-seq
MIRT778512	hsa-miR-4687-3p	CLIP-seq
MIRT778513	hsa-miR-4698	CLIP-seq
MIRT778514	hsa-miR-4700-3p	CLIP-seq
MIRT778515	hsa-miR-4703-5p	CLIP-seq
MIRT778516	hsa-miR-4731-3p	CLIP-seq
MIRT778517	hsa-miR-4735-5p	CLIP-seq
MIRT778518	hsa-miR-4739	CLIP-seq
MIRT778519	hsa-miR-4740-3p	CLIP-seq
MIRT778520	hsa-miR-4748	CLIP-seq
MIRT778521	hsa-miR-4756-5p	CLIP-seq
MIRT778522	hsa-miR-4760-5p	CLIP-seq
MIRT778523	hsa-miR-4775	CLIP-seq
MIRT778524	hsa-miR-4795-3p	CLIP-seq
MIRT778525	hsa-miR-4796-3p	CLIP-seq
MIRT778526	hsa-miR-4797-3p	CLIP-seq
MIRT778527	hsa-miR-4797-5p	CLIP-seq
MIRT778528	hsa-miR-4801	CLIP-seq
MIRT778529	hsa-miR-506	CLIP-seq
MIRT778530	hsa-miR-544	CLIP-seq
MIRT778531	hsa-miR-548t	CLIP-seq
MIRT778532	hsa-miR-570	CLIP-seq
MIRT778533	hsa-miR-590-3p	CLIP-seq
MIRT778534	hsa-miR-606	CLIP-seq
MIRT778535	hsa-miR-613	CLIP-seq
MIRT778536	hsa-miR-648	CLIP-seq
MIRT778537	hsa-miR-653	CLIP-seq
MIRT778538	hsa-miR-720	CLIP-seq
MIRT778539	hsa-miR-98	CLIP-seq
MIRT778447	hsa-miR-1	CLIP-seq
MIRT1929791	hsa-miR-103a	CLIP-seq
MIRT1929792	hsa-miR-107	CLIP-seq
MIRT778450	hsa-miR-1245b-3p	CLIP-seq
MIRT778451	hsa-miR-1246	CLIP-seq
MIRT778454	hsa-miR-1321	CLIP-seq
MIRT778455	hsa-miR-141	CLIP-seq
MIRT778457	hsa-miR-181a	CLIP-seq
MIRT778458	hsa-miR-181b	CLIP-seq
MIRT778459	hsa-miR-181c	CLIP-seq
MIRT778460	hsa-miR-181d	CLIP-seq
MIRT778463	hsa-miR-200a	CLIP-seq
MIRT778465	hsa-miR-206	CLIP-seq
MIRT778466	hsa-miR-23a	CLIP-seq
MIRT778467	hsa-miR-23b	CLIP-seq
MIRT778468	hsa-miR-23c	CLIP-seq
MIRT778469	hsa-miR-24	CLIP-seq
MIRT778470	hsa-miR-3128	CLIP-seq
MIRT778471	hsa-miR-3138	CLIP-seq
MIRT1929793	hsa-miR-3646	CLIP-seq
MIRT778477	hsa-miR-3673	CLIP-seq
MIRT778486	hsa-miR-4262	CLIP-seq
MIRT778488	hsa-miR-4270	CLIP-seq
MIRT778489	hsa-miR-4282	CLIP-seq
MIRT778490	hsa-miR-4284	CLIP-seq
MIRT778494	hsa-miR-4432	CLIP-seq
MIRT778496	hsa-miR-4441	CLIP-seq
MIRT778499	hsa-miR-4470	CLIP-seq
MIRT778504	hsa-miR-4520a-3p	CLIP-seq
MIRT778518	hsa-miR-4739	CLIP-seq
MIRT778521	hsa-miR-4756-5p	CLIP-seq
MIRT1929794	hsa-miR-4762-3p	CLIP-seq
MIRT1929795	hsa-miR-4766-5p	CLIP-seq
MIRT778525	hsa-miR-4796-3p	CLIP-seq
MIRT778531	hsa-miR-548t	CLIP-seq
MIRT778535	hsa-miR-613	CLIP-seq
MIRT778447	hsa-miR-1	CLIP-seq
MIRT778450	hsa-miR-1245b-3p	CLIP-seq
MIRT2170587	hsa-miR-1283	CLIP-seq
MIRT778455	hsa-miR-141	CLIP-seq
MIRT2170588	hsa-miR-149	CLIP-seq
MIRT2170589	hsa-miR-193a-5p	CLIP-seq
MIRT778461	hsa-miR-19a	CLIP-seq
MIRT778462	hsa-miR-19b	CLIP-seq
MIRT778463	hsa-miR-200a	CLIP-seq
MIRT778465	hsa-miR-206	CLIP-seq
MIRT2170590	hsa-miR-3064-5p	CLIP-seq
MIRT778470	hsa-miR-3128	CLIP-seq
MIRT2170591	hsa-miR-3618	CLIP-seq
MIRT778477	hsa-miR-3673	CLIP-seq
MIRT778485	hsa-miR-3976	CLIP-seq
MIRT778487	hsa-miR-4264	CLIP-seq
MIRT778489	hsa-miR-4282	CLIP-seq
MIRT778491	hsa-miR-4302	CLIP-seq
MIRT778499	hsa-miR-4470	CLIP-seq
MIRT2170592	hsa-miR-4794	CLIP-seq
MIRT778526	hsa-miR-4797-3p	CLIP-seq
MIRT2170593	hsa-miR-4802-3p	CLIP-seq
MIRT778535	hsa-miR-613	CLIP-seq
MIRT778536	hsa-miR-648	CLIP-seq
MIRT778447	hsa-miR-1	CLIP-seq
MIRT778450	hsa-miR-1245b-3p	CLIP-seq
MIRT778465	hsa-miR-206	CLIP-seq
MIRT778473	hsa-miR-3165	CLIP-seq
MIRT778477	hsa-miR-3673	CLIP-seq
MIRT778535	hsa-miR-613	CLIP-seq
MIRT778457	hsa-miR-181a	CLIP-seq
MIRT778458	hsa-miR-181b	CLIP-seq
MIRT778459	hsa-miR-181c	CLIP-seq
MIRT778460	hsa-miR-181d	CLIP-seq
MIRT778466	hsa-miR-23a	CLIP-seq
MIRT778467	hsa-miR-23b	CLIP-seq
MIRT778468	hsa-miR-23c	CLIP-seq
MIRT778486	hsa-miR-4262	CLIP-seq
MIRT778494	hsa-miR-4432	CLIP-seq
MIRT778439	hsa-let-7a	CLIP-seq
MIRT778440	hsa-let-7b	CLIP-seq
MIRT778441	hsa-let-7c	CLIP-seq
MIRT778442	hsa-let-7d	CLIP-seq
MIRT778443	hsa-let-7e	CLIP-seq
MIRT778444	hsa-let-7f	CLIP-seq
MIRT778445	hsa-let-7g	CLIP-seq
MIRT778446	hsa-let-7i	CLIP-seq
MIRT778450	hsa-miR-1245b-3p	CLIP-seq
MIRT778464	hsa-miR-202	CLIP-seq
MIRT778475	hsa-miR-3185	CLIP-seq
MIRT2443577	hsa-miR-3678-3p	CLIP-seq
MIRT778497	hsa-miR-4458	CLIP-seq
MIRT778502	hsa-miR-4500	CLIP-seq
MIRT778539	hsa-miR-98	CLIP-seq
MIRT778439	hsa-let-7a	CLIP-seq
MIRT778440	hsa-let-7b	CLIP-seq
MIRT778441	hsa-let-7c	CLIP-seq
MIRT778442	hsa-let-7d	CLIP-seq
MIRT778443	hsa-let-7e	CLIP-seq
MIRT778444	hsa-let-7f	CLIP-seq
MIRT778445	hsa-let-7g	CLIP-seq
MIRT778446	hsa-let-7i	CLIP-seq
MIRT778450	hsa-miR-1245b-3p	CLIP-seq
MIRT778464	hsa-miR-202	CLIP-seq
MIRT778475	hsa-miR-3185	CLIP-seq
MIRT2443577	hsa-miR-3678-3p	CLIP-seq
MIRT778497	hsa-miR-4458	CLIP-seq
MIRT778502	hsa-miR-4500	CLIP-seq
MIRT778539	hsa-miR-98	CLIP-seq
MIRT778447	hsa-miR-1	CLIP-seq
MIRT778453	hsa-miR-1305	CLIP-seq
MIRT778455	hsa-miR-141	CLIP-seq
MIRT778457	hsa-miR-181a	CLIP-seq
MIRT778458	hsa-miR-181b	CLIP-seq
MIRT778459	hsa-miR-181c	CLIP-seq
MIRT778460	hsa-miR-181d	CLIP-seq
MIRT778463	hsa-miR-200a	CLIP-seq
MIRT778465	hsa-miR-206	CLIP-seq
MIRT778466	hsa-miR-23a	CLIP-seq
MIRT778467	hsa-miR-23b	CLIP-seq
MIRT778468	hsa-miR-23c	CLIP-seq
MIRT778470	hsa-miR-3128	CLIP-seq
MIRT2473155	hsa-miR-3617	CLIP-seq
MIRT778477	hsa-miR-3673	CLIP-seq
MIRT778486	hsa-miR-4262	CLIP-seq
MIRT2473156	hsa-miR-4263	CLIP-seq
MIRT778489	hsa-miR-4282	CLIP-seq
MIRT778494	hsa-miR-4432	CLIP-seq
MIRT778499	hsa-miR-4470	CLIP-seq
MIRT778517	hsa-miR-4735-5p	CLIP-seq
MIRT778523	hsa-miR-4775	CLIP-seq
MIRT2473157	hsa-miR-576-5p	CLIP-seq
MIRT778533	hsa-miR-590-3p	CLIP-seq
MIRT778535	hsa-miR-613	CLIP-seq
MIRT2473158	hsa-miR-641	CLIP-seq
MIRT778447	hsa-miR-1	CLIP-seq
MIRT778453	hsa-miR-1305	CLIP-seq
MIRT778465	hsa-miR-206	CLIP-seq
MIRT778470	hsa-miR-3128	CLIP-seq
MIRT778477	hsa-miR-3673	CLIP-seq
MIRT2473156	hsa-miR-4263	CLIP-seq
MIRT778489	hsa-miR-4282	CLIP-seq
MIRT778499	hsa-miR-4470	CLIP-seq
MIRT778517	hsa-miR-4735-5p	CLIP-seq
MIRT778523	hsa-miR-4775	CLIP-seq
MIRT2473157	hsa-miR-576-5p	CLIP-seq
MIRT778533	hsa-miR-590-3p	CLIP-seq
MIRT778535	hsa-miR-613	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000033	Function	Alpha-1,3-mannosyltransferase activity	IBA
GO:0000033	Function	Alpha-1,3-mannosyltransferase activity	IDA	35136180
GO:0000033	Function	Alpha-1,3-mannosyltransferase activity	TAS
GO:0004378	Function	GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity	IDA	12684507, 35136180
GO:0004378	Function	GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity	IEA
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	TAS
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IGI	12684507
GO:0006487	Process	Protein N-linked glycosylation	IDA	35136180
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IBA
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IDA	35136180
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IGI	12684507
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	TAS
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0098554	Component	Cytoplasmic side of endoplasmic reticulum membrane	IDA	35136180
GO:0102704	Function	GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity	IDA	12684507, 35136180
GO:0102704	Function	GDP-Man:Man(2)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity	IEA

MIM	HGNC	e!Ensembl
607905	23159	ENSG00000119523

Q9H553

Protein name

Alpha-1,3/1,6-mannosyltransferase ALG2 (EC 2.4.1.132) (EC 2.4.1.257) (Asparagine-linked glycosylation protein 2 homolog) (GDP-Man:Man(1)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase) (GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase) (GDP-Man:Man(

Protein function

Mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligosaccharides begins on the cytosolic s

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13439	Glyco_transf_4	26 → 206	Glycosyltransferase Family 4	Domain
PF00534	Glycos_transf_1	211 → 393	Glycosyl transferases group 1	Family

Sequence

MAEEQGRERDSVPKPSVLFLHPDLGVGGAERLVLDAALALQARGCSVKIWTAHYDPGHCF
AESRELPVRCAGDWLPRGLGWGGRGAAVCAYVRMVFLALYVLFLADEEFDVVVCDQVSAC
IPVFRLARRRKKILFYCHFPDLLLTKRDSFLKRLYRAPIDWIEEYTTGMADCILVNSQFT
AAVFKETFKSLSHIDPDVLYPSLNVTSFDSVVPEKLDDLVPKGKKFLLLSINRYERKKNL
TLALEALVQLRGRLTSQDWERVHLIVAGGYDERVLENVEHYQELKKMVQQSDLGQYVTFL
RSFSDKQKISLLHSCTCVLYTPSNEHFGIVPLEAMYMQCPVIAVNSGGPLESIDHSVTGF
LCEPDPVHFSEAIEKFIREPSLKATMGLAGRARVKEKFSPEAFTEQLYRYVTKLLV

Sequence length

416

Interactions

View interactions

	KEGG		Reactome
	N-Glycan biosynthesis Various types of N-glycan biosynthesis Metabolic pathways		Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein Defective ALG2 causes ALG2-CDG (CDG-1i)

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
ALG2-congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs757068626, rs201729325, rs387906281, rs730880304, rs2490391562, rs1828806280	RCV001542584 RCV004565246 RCV001060196 RCV004562185 RCV003988727 RCV001169926 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital myasthenic syndrome 14	Likely pathogenic; Pathogenic	rs387906281, rs730882123, rs730882051, rs1828723159, rs1828806340	RCV001060196 RCV000161140 RCV000161141 RCV003222591 RCV001280688	★★★★★ ★★★★★ 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.
ALG2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	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 II	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II	—	Disgenet, HPO Disgenet, 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
MYASTHENIC SYNDROME, CONGENITAL, 14	—	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

Show/Hide Text Mining Associations (49)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
ALG2-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	30529763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27926525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type II	Congenital disorder of glycosylation	Pubtator	30776362	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorder Of Glycosylation Type Im	Congenital disorder of glycosylation	Pubtator	12684507	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG	12684507, 23404334, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii	Congenital disorder of glycosylation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii	Congenital disorder of glycosylation	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	30397276		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	33644825	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
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	33503978	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	28300556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	28300556		★★★★★ ★☆☆☆☆ 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	35279850, 38256263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19383317	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27926525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28004381, 30240438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15366927	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	23404334	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 14	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	12684507, 23404334, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 14	Myasthenic Syndrome	UNIPROT_DG	23404334		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 14	Myasthenic Syndrome	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	23404334, 34980536	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	23404334, 31449669		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	23404334		★★★★★ ★★☆☆☆ 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	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28300556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	36327672	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33644825	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	15366927	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only

ALG2 (ALG2 alpha-1,3/1,6-mannosyltransferase)