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	199857
Gene name	ALG14 UDP-N-acetylglucosaminyltransferase subunit
Gene symbol	ALG14
Synonyms (NCBI Gene)	CMS15IDDEBFMEPCA
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

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

228

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

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

MIM	HGNC	e!Ensembl
612866	28287	ENSG00000172339

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

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 ALG14 causes congenital myasthenic syndrome (ALG14-CMS)

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 myasthenic syndrome 15	Pathogenic	rs730882050	RCV000161136	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

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.
ALG14-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ 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

Show/Hide Text Mining Associations (25)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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	BEFREE	23404334		★★★★★ ★★☆☆☆ 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
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

ALG14 (ALG14 UDP-N-acetylglucosaminyltransferase subunit)