ALG14 (ALG14 UDP-N-acetylglucosaminyltransferase subunit)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 199857
• Gene name: ALG14 UDP-N-acetylglucosaminyltransferase subunit
• Gene symbol: ALG14
• Synonyms (NCBI Gene): CMS15, IDDEBF, MEPCA
• Chromosome: 1
• Chromosome location: 1p21.3
• Summary: This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs139521179	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant

miRNA Show/Hide all (228)

miRTarBase ID	miRNA	Experiments	Reference
MIRT705779	hsa-miR-6502-3p	HITS-CLIP	23313552
MIRT705778	hsa-miR-6888-5p	HITS-CLIP	23313552
MIRT705777	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT705776	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT705775	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT705774	hsa-miR-1288-5p	HITS-CLIP	23313552
MIRT705773	hsa-miR-4793-5p	HITS-CLIP	23313552
MIRT705772	hsa-miR-221-5p	HITS-CLIP	23313552
MIRT705771	hsa-miR-8073	HITS-CLIP	23313552
MIRT705770	hsa-miR-4794	HITS-CLIP	23313552
MIRT705769	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT705768	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT705767	hsa-miR-1273f	HITS-CLIP	23313552
MIRT705766	hsa-miR-3150b-3p	HITS-CLIP	23313552
MIRT705765	hsa-miR-4784	HITS-CLIP	23313552
MIRT705764	hsa-miR-7854-3p	HITS-CLIP	23313552
MIRT660734	hsa-miR-4534	HITS-CLIP	23313552
MIRT660733	hsa-miR-8082	HITS-CLIP	23313552
MIRT705763	hsa-miR-139-3p	HITS-CLIP	23313552
MIRT705762	hsa-miR-4710	HITS-CLIP	23313552
MIRT705761	hsa-miR-4689	HITS-CLIP	23313552
MIRT705760	hsa-miR-6858-5p	HITS-CLIP	23313552
MIRT441829	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT669554	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT669553	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT669552	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT669551	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT669550	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT669549	hsa-miR-3135b	HITS-CLIP	23824327
MIRT669548	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT669547	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT669546	hsa-miR-3652	HITS-CLIP	23824327
MIRT669545	hsa-miR-4430	HITS-CLIP	23824327
MIRT669544	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT669543	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT669542	hsa-miR-7641	HITS-CLIP	23824327
MIRT669541	hsa-miR-4659a-5p	HITS-CLIP	23824327
MIRT669540	hsa-miR-4659b-5p	HITS-CLIP	23824327
MIRT669539	hsa-miR-5698	HITS-CLIP	23824327
MIRT660748	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT660747	hsa-miR-25-3p	HITS-CLIP	23824327
MIRT660746	hsa-miR-32-5p	HITS-CLIP	23824327
MIRT660745	hsa-miR-363-3p	HITS-CLIP	23824327
MIRT660744	hsa-miR-367-3p	HITS-CLIP	23824327
MIRT660743	hsa-miR-92a-3p	HITS-CLIP	23824327
MIRT660742	hsa-miR-92b-3p	HITS-CLIP	23824327
MIRT660741	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT660740	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT660739	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT660738	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT660737	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT660736	hsa-miR-4486	HITS-CLIP	23824327
MIRT660735	hsa-miR-5186	HITS-CLIP	23824327
MIRT660734	hsa-miR-4534	HITS-CLIP	23824327
MIRT660733	hsa-miR-8082	HITS-CLIP	23824327
MIRT660732	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT660731	hsa-miR-661	HITS-CLIP	23824327
MIRT660730	hsa-miR-6717-5p	HITS-CLIP	23824327
MIRT660729	hsa-miR-4649-5p	HITS-CLIP	23824327
MIRT660728	hsa-miR-6729-5p	HITS-CLIP	23824327
MIRT660727	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT660726	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT660725	hsa-miR-500a-3p	HITS-CLIP	23824327
MIRT660724	hsa-miR-7703	HITS-CLIP	23824327
MIRT571068	hsa-miR-18a-5p	PAR-CLIP	20371350
MIRT571067	hsa-miR-18b-5p	PAR-CLIP	20371350
MIRT571066	hsa-miR-4735-3p	PAR-CLIP	20371350
MIRT571064	hsa-miR-4676-5p	PAR-CLIP	20371350
MIRT571065	hsa-miR-575	PAR-CLIP	20371350
MIRT571063	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT571062	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT571061	hsa-miR-6807-5p	PAR-CLIP	20371350
MIRT560447	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT560446	hsa-miR-3125	PAR-CLIP	20371350
MIRT560445	hsa-miR-3916	PAR-CLIP	20371350
MIRT560444	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT560443	hsa-miR-1253	PAR-CLIP	20371350
MIRT560442	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560441	hsa-miR-4314	PAR-CLIP	20371350
MIRT445875	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT445873	hsa-miR-4468	PAR-CLIP	22100165
MIRT445872	hsa-miR-3157-5p	PAR-CLIP	22100165
MIRT445871	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445870	hsa-miR-8055	PAR-CLIP	22100165
MIRT445875	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT445874	hsa-miR-205-3p	PAR-CLIP	22100165
MIRT445873	hsa-miR-4468	PAR-CLIP	22100165
MIRT445872	hsa-miR-3157-5p	PAR-CLIP	22100165
MIRT445871	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445870	hsa-miR-8055	PAR-CLIP	22100165
MIRT348788	hsa-miR-606	PAR-CLIP	22100165
MIRT441832	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT441830	hsa-miR-4714-5p	PAR-CLIP	22100165
MIRT441831	hsa-miR-514a-5p	PAR-CLIP	22100165
MIRT441829	hsa-miR-3664-5p	PAR-CLIP	22100165
MIRT441828	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT441827	hsa-miR-496	PAR-CLIP	22100165
MIRT441826	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT441825	hsa-miR-506-3p	PAR-CLIP	22100165
MIRT441824	hsa-miR-4477a	PAR-CLIP	22100165
MIRT348788	hsa-miR-606	PAR-CLIP	22100165
MIRT441832	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT441830	hsa-miR-4714-5p	PAR-CLIP	22100165
MIRT441831	hsa-miR-514a-5p	PAR-CLIP	22100165
MIRT441829	hsa-miR-3664-5p	PAR-CLIP	22100165
MIRT441828	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT441827	hsa-miR-496	PAR-CLIP	22100165
MIRT441826	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT441825	hsa-miR-506-3p	PAR-CLIP	22100165
MIRT441824	hsa-miR-4477a	PAR-CLIP	22100165
MIRT705779	hsa-miR-6502-3p	HITS-CLIP	23313552
MIRT705778	hsa-miR-6888-5p	HITS-CLIP	23313552
MIRT705777	hsa-miR-128-3p	HITS-CLIP	23313552
MIRT705776	hsa-miR-216a-3p	HITS-CLIP	23313552
MIRT705775	hsa-miR-3681-3p	HITS-CLIP	23313552
MIRT705774	hsa-miR-1288-5p	HITS-CLIP	23313552
MIRT705773	hsa-miR-4793-5p	HITS-CLIP	23313552
MIRT705772	hsa-miR-221-5p	HITS-CLIP	23313552
MIRT705771	hsa-miR-8073	HITS-CLIP	23313552
MIRT705770	hsa-miR-4794	HITS-CLIP	23313552
MIRT705769	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT705768	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT705767	hsa-miR-1273f	HITS-CLIP	23313552
MIRT705766	hsa-miR-3150b-3p	HITS-CLIP	23313552
MIRT705765	hsa-miR-4784	HITS-CLIP	23313552
MIRT705764	hsa-miR-7854-3p	HITS-CLIP	23313552
MIRT660734	hsa-miR-4534	HITS-CLIP	23313552
MIRT660733	hsa-miR-8082	HITS-CLIP	23313552
MIRT705763	hsa-miR-139-3p	HITS-CLIP	23313552
MIRT705762	hsa-miR-4710	HITS-CLIP	23313552
MIRT705761	hsa-miR-4689	HITS-CLIP	23313552
MIRT705760	hsa-miR-6858-5p	HITS-CLIP	23313552
MIRT441829	hsa-miR-3664-5p	HITS-CLIP	23824327
MIRT669554	hsa-miR-500b-3p	HITS-CLIP	23824327
MIRT669553	hsa-miR-6773-3p	HITS-CLIP	23824327
MIRT669552	hsa-miR-215-3p	HITS-CLIP	23824327
MIRT669551	hsa-miR-4695-3p	HITS-CLIP	23824327
MIRT669550	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT669549	hsa-miR-3135b	HITS-CLIP	23824327
MIRT669548	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT669547	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT669546	hsa-miR-3652	HITS-CLIP	23824327
MIRT669545	hsa-miR-4430	HITS-CLIP	23824327
MIRT669544	hsa-miR-6879-3p	HITS-CLIP	23824327
MIRT669543	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT669542	hsa-miR-7641	HITS-CLIP	23824327
MIRT669541	hsa-miR-4659a-5p	HITS-CLIP	23824327
MIRT669540	hsa-miR-4659b-5p	HITS-CLIP	23824327
MIRT669539	hsa-miR-5698	HITS-CLIP	23824327
MIRT660748	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT660747	hsa-miR-25-3p	HITS-CLIP	23824327
MIRT660746	hsa-miR-32-5p	HITS-CLIP	23824327
MIRT660745	hsa-miR-363-3p	HITS-CLIP	23824327
MIRT660744	hsa-miR-367-3p	HITS-CLIP	23824327
MIRT660743	hsa-miR-92a-3p	HITS-CLIP	23824327
MIRT660742	hsa-miR-92b-3p	HITS-CLIP	23824327
MIRT660741	hsa-miR-1273g-3p	HITS-CLIP	23824327
MIRT660740	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT660739	hsa-miR-939-3p	HITS-CLIP	23824327
MIRT660738	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT660737	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT660736	hsa-miR-4486	HITS-CLIP	23824327
MIRT660735	hsa-miR-5186	HITS-CLIP	23824327
MIRT660734	hsa-miR-4534	HITS-CLIP	23824327
MIRT660733	hsa-miR-8082	HITS-CLIP	23824327
MIRT660732	hsa-miR-767-5p	HITS-CLIP	23824327
MIRT660731	hsa-miR-661	HITS-CLIP	23824327
MIRT660730	hsa-miR-6717-5p	HITS-CLIP	23824327
MIRT660729	hsa-miR-4649-5p	HITS-CLIP	23824327
MIRT660728	hsa-miR-6729-5p	HITS-CLIP	23824327
MIRT660727	hsa-miR-6512-3p	HITS-CLIP	23824327
MIRT660726	hsa-miR-6720-5p	HITS-CLIP	23824327
MIRT660725	hsa-miR-500a-3p	HITS-CLIP	23824327
MIRT660724	hsa-miR-7703	HITS-CLIP	23824327
MIRT571068	hsa-miR-18a-5p	PAR-CLIP	20371350
MIRT571067	hsa-miR-18b-5p	PAR-CLIP	20371350
MIRT571066	hsa-miR-4735-3p	PAR-CLIP	20371350
MIRT571064	hsa-miR-4676-5p	PAR-CLIP	20371350
MIRT571065	hsa-miR-575	PAR-CLIP	20371350
MIRT571063	hsa-miR-101-3p	PAR-CLIP	20371350
MIRT571062	hsa-miR-582-5p	PAR-CLIP	20371350
MIRT571061	hsa-miR-6807-5p	PAR-CLIP	20371350
MIRT560447	hsa-miR-5197-3p	PAR-CLIP	20371350
MIRT560446	hsa-miR-3125	PAR-CLIP	20371350
MIRT560445	hsa-miR-3916	PAR-CLIP	20371350
MIRT560444	hsa-miR-6859-5p	PAR-CLIP	20371350
MIRT560443	hsa-miR-1253	PAR-CLIP	20371350
MIRT560442	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT560441	hsa-miR-4314	PAR-CLIP	20371350
MIRT445875	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT445873	hsa-miR-4468	PAR-CLIP	22100165
MIRT445872	hsa-miR-3157-5p	PAR-CLIP	22100165
MIRT445871	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445870	hsa-miR-8055	PAR-CLIP	22100165
MIRT445875	hsa-miR-7161-3p	PAR-CLIP	22100165
MIRT445874	hsa-miR-205-3p	PAR-CLIP	22100165
MIRT445873	hsa-miR-4468	PAR-CLIP	22100165
MIRT445872	hsa-miR-3157-5p	PAR-CLIP	22100165
MIRT445871	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445870	hsa-miR-8055	PAR-CLIP	22100165
MIRT348788	hsa-miR-606	PAR-CLIP	22100165
MIRT441832	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT441830	hsa-miR-4714-5p	PAR-CLIP	22100165
MIRT441831	hsa-miR-514a-5p	PAR-CLIP	22100165
MIRT441829	hsa-miR-3664-5p	PAR-CLIP	22100165
MIRT441828	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT441827	hsa-miR-496	PAR-CLIP	22100165
MIRT441826	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT441825	hsa-miR-506-3p	PAR-CLIP	22100165
MIRT441824	hsa-miR-4477a	PAR-CLIP	22100165
MIRT348788	hsa-miR-606	PAR-CLIP	22100165
MIRT441832	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT441830	hsa-miR-4714-5p	PAR-CLIP	22100165
MIRT441831	hsa-miR-514a-5p	PAR-CLIP	22100165
MIRT441829	hsa-miR-3664-5p	PAR-CLIP	22100165
MIRT441828	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT441827	hsa-miR-496	PAR-CLIP	22100165
MIRT441826	hsa-miR-124-3p	PAR-CLIP	22100165
MIRT441825	hsa-miR-506-3p	PAR-CLIP	22100165
MIRT441824	hsa-miR-4477a	PAR-CLIP	22100165
MIRT778436	hsa-miR-296-3p	CLIP-seq
MIRT778437	hsa-miR-3679-3p	CLIP-seq
MIRT778438	hsa-miR-4446-5p	CLIP-seq
MIRT2170582	hsa-miR-1266	CLIP-seq
MIRT2170583	hsa-miR-3169	CLIP-seq
MIRT2170584	hsa-miR-3664-3p	CLIP-seq
MIRT2170585	hsa-miR-4436a	CLIP-seq
MIRT2170586	hsa-miR-4518	CLIP-seq

Gene ontology (GO) Show/Hide all (13)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	36200043
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006487	Process	Protein N-linked glycosylation	IDA	36200043
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IBA
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IDA	36200043
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0043495	Function	Protein-membrane adaptor activity	IGI	16100110
GO:0043541	Component	UDP-N-acetylglucosamine transferase complex	IBA
GO:0043541	Component	UDP-N-acetylglucosamine transferase complex	IDA	36200043
GO:0098554	Component	Cytoplasmic side of endoplasmic reticulum membrane	IGI	16100110

Other IDs

• MIM: 612866
• HGNC: 28287
• e!Ensembl: ENSG00000172339

Protein

• UniProt ID: Q96F25
• Protein name: UDP-N-acetylglucosamine transferase subunit ALG14 (Asparagine-linked glycosylation 14 homolog)
• Protein function: Part of the UDP-N-acetylglucosamine transferase complex that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation. The assembly of dolichol-linked oligos
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08660	Alg14	39 → 215	Oligosaccharide biosynthesis protein Alg14 like	Family

• Sequence:

  MVCVLVLAAAAGAVAVFLILRIWVVLRSMDVTPRESLSILVVAGSGGHTTEILRLLGSLS
  NAYSPRHYVIADTDEMSANKINSFELDRADRDPSNMYTKYYIHRIPRSREVQQSWPSTVF
  TTLHSMWLSFPLIHRVKPDLVLCNGPGTCVPICVSALLLGILGIKKVIIVYVESICRVET
  LSMSGKILFHLSDYFIVQWPALKEKYPKSVYLGRIV

• Sequence length: 216

Pathways

KEGG Pathway	Reactome Pathway
N-Glycan biosynthesis	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
Various types of N-glycan biosynthesis	Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)
Metabolic pathways

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Congenital myasthenic syndrome 15	Pathogenic	rs730882050	RCV000161136	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (23)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ALG14-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	33479212, 33686288, 34159505	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION	—	ClinGen, Disgenet	16100110, 23404334, 28733338, 30221345, 33751823, 34908252, 34971077	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet, ClinGen	ClinGen report	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYASTHENIC SYNDROME WITH GLYCOSYLATION DEFECT	—	Orphanet	23404334	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT	—	CTD, Disgenet CTD, Disgenet	23404334	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy	Conflicting classifications of pathogenicity	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Familial pancreatic carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 15	—	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
Myopathy, epilepsy, and progressive cerebral atrophy	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	30019117	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	33686288	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (25)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	28733338, 35327592	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
Epilepsy	Epilepsy	Pubtator	28733338	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	28733338		★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	23404334, 34908252	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenias	Myasthenia Gravis	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYASTHENIC SYNDROME, CONGENITAL, 15	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	23404334, 27604308, 28733338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 15	Myasthenic Syndrome	UNIPROT_DG	23404334		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYASTHENIC SYNDROME, CONGENITAL, 15	Myasthenic Syndrome	CLINVAR_DG	28733338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes Congenital	Myasthenic syndrome	Pubtator	23404334, 28733338	Associate	★☆☆☆☆ Found in Text Mining only
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	GENOMICS_ENGLAND_DG	23404334		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myasthenic Syndromes, Congenital	Myasthenic Syndrome	BEFREE	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
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28733338	Associate	★☆☆☆☆ 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	30221345		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ALG2 3 shared diseasesCongenital disorder of glycosylation, Congenital myasthenic syndrome, Myasthenic syndrome 3 shared pathwaysN-Glycan biosynthesis, Various types of N-glycan biosynthesis, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein 8 shared evidence sourcesDisgenet (Congenital disorder of glycosylation), ClinVar (Congenital myasthenic syndrome), GenCC (Congenital myasthenic syndrome), Disgenet (Congenital myasthenic syndrome), Orphanet (Congenital myasthenic syndrome), HPO (Myasthenic syndrome), Disgenet (Myasthenic syndrome), CTD (Myasthenic syndrome) Related via 3 shared diseases including Congenital disorder of glycosylation, Congenital myasthenic syndrome — evidence mostly Disgenet. DPAGT1 3 shared diseasesCongenital disorder of glycosylation, Congenital myasthenic syndrome, Myasthenic syndrome 2 shared pathwaysN-Glycan biosynthesis, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein 9 shared evidence sourcesClinGen (Congenital disorder of glycosylation), Disgenet (Congenital disorder of glycosylation), ClinVar (Congenital myasthenic syndrome), Disgenet (Congenital myasthenic syndrome), CTD (Congenital myasthenic syndrome), Orphanet (Congenital myasthenic syndrome), HPO (Myasthenic syndrome), Disgenet (Myasthenic syndrome), CTD (Myasthenic syndrome) Related via 3 shared diseases including Congenital disorder of glycosylation, Congenital myasthenic syndrome — evidence mostly Disgenet. ALG13 1 shared diseaseCongenital disorder of glycosylation 4 shared pathwaysN-Glycan biosynthesis, Various types of N-glycan biosynthesis, Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein, Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS) 1 shared evidence sourceDisgenet (Congenital disorder of glycosylation) Related via 4 shared pathways including N-Glycan biosynthesis, Various types of N-glycan biosynthesis — evidence mostly Disgenet. CHRNE 2 shared diseasesCongenital myasthenic syndrome, Myasthenic syndrome 5 shared evidence sourcesClinVar (Congenital myasthenic syndrome), GenCC (Congenital myasthenic syndrome), HPO (Myasthenic syndrome), Disgenet (Myasthenic syndrome), CTD (Myasthenic syndrome) Related via 2 shared diseases including Congenital myasthenic syndrome, Myasthenic syndrome — evidence mostly ClinVar. GFPT1 2 shared diseasesCongenital myasthenic syndrome, Myasthenic syndrome 6 shared evidence sourcesClinVar (Congenital myasthenic syndrome), Disgenet (Congenital myasthenic syndrome), Orphanet (Congenital myasthenic syndrome), HPO (Myasthenic syndrome), Disgenet (Myasthenic syndrome), CTD (Myasthenic syndrome) Related via 2 shared diseases including Congenital myasthenic syndrome, Myasthenic syndrome — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ALG2	3	["Congenital disorder of glycosylation","Congenital myasthenic syndrome","Myasthenic syndrome"]	3	["N-Glycan biosynthesis","Various types of N-glycan biosynthesis","Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein"]	8	["Disgenet (Congenital disorder of glycosylation)","ClinVar (Congenital myasthenic syndrome)","GenCC (Congenital myasthenic syndrome)","Disgenet (Congenital myasthenic syndrome)","Orphanet (Congenital myasthenic syndrome)","HPO (Myasthenic syndrome)","Disgenet (Myasthenic syndrome)","CTD (Myasthenic syndrome)"]
DPAGT1	3	["Congenital disorder of glycosylation","Congenital myasthenic syndrome","Myasthenic syndrome"]	2	["N-Glycan biosynthesis","Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein"]	9	["ClinGen (Congenital disorder of glycosylation)","Disgenet (Congenital disorder of glycosylation)","ClinVar (Congenital myasthenic syndrome)","Disgenet (Congenital myasthenic syndrome)","CTD (Congenital myasthenic syndrome)","Orphanet (Congenital myasthenic syndrome)","HPO (Myasthenic syndrome)","Disgenet (Myasthenic syndrome)","CTD (Myasthenic syndrome)"]
ALG13	1	["Congenital disorder of glycosylation"]	4	["N-Glycan biosynthesis","Various types of N-glycan biosynthesis","Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein","Defective ALG14 causes congenital myasthenic syndrome (ALG14-CMS)"]	1	["Disgenet (Congenital disorder of glycosylation)"]
CHRNE	2	["Congenital myasthenic syndrome","Myasthenic syndrome"]	0	[]	5	["ClinVar (Congenital myasthenic syndrome)","GenCC (Congenital myasthenic syndrome)","HPO (Myasthenic syndrome)","Disgenet (Myasthenic syndrome)","CTD (Myasthenic syndrome)"]
GFPT1	2	["Congenital myasthenic syndrome","Myasthenic syndrome"]	0	[]	6	["ClinVar (Congenital myasthenic syndrome)","Disgenet (Congenital myasthenic syndrome)","Orphanet (Congenital myasthenic syndrome)","HPO (Myasthenic syndrome)","Disgenet (Myasthenic syndrome)","CTD (Myasthenic syndrome)"]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 2 of 5 related genesCHRNE, GFPT1 ALG2-congenital disorder of glycosylation Linked via 1 of 5 related genesALG2 Colorectal neoplasms Linked via 1 of 5 related genesDPAGT1 Stomach neoplasms Linked via 1 of 5 related genesDPAGT1 Tubular aggregate myopathy Linked via 1 of 5 related genesDPAGT1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	2	["CHRNE","GFPT1"]
ALG2-congenital disorder of glycosylation	1	["ALG2"]
Colorectal neoplasms	1	["DPAGT1"]
Stomach neoplasms	1	["DPAGT1"]
Tubular aggregate myopathy	1	["DPAGT1"]