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	79868
Gene name	ALG13 UDP-N-acetylglucosaminyltransferase subunit
Gene symbol	ALG13
Synonyms (NCBI Gene)	CDG1SCXorf45DEE36EIEE36GLT28D1MDS031TDRD13YGL047W
Chromosome	X
Chromosome location	Xq23
Summary	The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar additi

Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138712375	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs145518377	A>G	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, synonymous variant
rs189931917	A>C,G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant, genic downstream transcript variant
rs398122394	A>G	Pathogenic	Missense variant, 5 prime UTR variant, synonymous variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs746842727	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs773401427	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs867599353	A>G	Pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs1556483387	A>G	Likely-pathogenic	Intron variant, non coding transcript variant, genic upstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs1569508922	T>A	Likely-pathogenic	Coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, missense variant

146

Show/Hide all (146)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051473	hsa-let-7e-5p	CLASH	23622248
MIRT445792	hsa-miR-548m	PAR-CLIP	22100165
MIRT445791	hsa-miR-1183	PAR-CLIP	22100165
MIRT445790	hsa-miR-3607-3p	PAR-CLIP	22100165
MIRT445789	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT445788	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT445787	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445786	hsa-miR-3672	PAR-CLIP	22100165
MIRT445785	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT445792	hsa-miR-548m	PAR-CLIP	22100165
MIRT445791	hsa-miR-1183	PAR-CLIP	22100165
MIRT445790	hsa-miR-3607-3p	PAR-CLIP	22100165
MIRT445789	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT445788	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT445787	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445786	hsa-miR-3672	PAR-CLIP	22100165
MIRT445785	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT445792	hsa-miR-548m	PAR-CLIP	22100165
MIRT445791	hsa-miR-1183	PAR-CLIP	22100165
MIRT445790	hsa-miR-3607-3p	PAR-CLIP	22100165
MIRT445789	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT445788	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT445787	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445786	hsa-miR-3672	PAR-CLIP	22100165
MIRT445785	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT445792	hsa-miR-548m	PAR-CLIP	22100165
MIRT445791	hsa-miR-1183	PAR-CLIP	22100165
MIRT445790	hsa-miR-3607-3p	PAR-CLIP	22100165
MIRT445789	hsa-miR-4786-5p	PAR-CLIP	22100165
MIRT445788	hsa-miR-769-5p	PAR-CLIP	22100165
MIRT445787	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT445786	hsa-miR-3672	PAR-CLIP	22100165
MIRT445785	hsa-miR-6864-3p	PAR-CLIP	22100165
MIRT778393	hsa-miR-148a	CLIP-seq
MIRT778394	hsa-miR-148b	CLIP-seq
MIRT778395	hsa-miR-152	CLIP-seq
MIRT778396	hsa-miR-4712-5p	CLIP-seq
MIRT778397	hsa-miR-770-5p	CLIP-seq
MIRT778398	hsa-miR-106a	CLIP-seq
MIRT778399	hsa-miR-106b	CLIP-seq
MIRT778400	hsa-miR-1275	CLIP-seq
MIRT778401	hsa-miR-17	CLIP-seq
MIRT778402	hsa-miR-20a	CLIP-seq
MIRT778403	hsa-miR-20b	CLIP-seq
MIRT778404	hsa-miR-23a	CLIP-seq
MIRT778405	hsa-miR-23b	CLIP-seq
MIRT778406	hsa-miR-23c	CLIP-seq
MIRT778407	hsa-miR-3140-3p	CLIP-seq
MIRT778408	hsa-miR-323-3p	CLIP-seq
MIRT778409	hsa-miR-3591-5p	CLIP-seq
MIRT778410	hsa-miR-3609	CLIP-seq
MIRT778411	hsa-miR-376c	CLIP-seq
MIRT778412	hsa-miR-4260	CLIP-seq
MIRT778413	hsa-miR-4452	CLIP-seq
MIRT778414	hsa-miR-4665-5p	CLIP-seq
MIRT778415	hsa-miR-4693-3p	CLIP-seq
MIRT778416	hsa-miR-4796-3p	CLIP-seq
MIRT778417	hsa-miR-519d	CLIP-seq
MIRT778418	hsa-miR-548ah	CLIP-seq
MIRT778419	hsa-miR-93	CLIP-seq
MIRT778398	hsa-miR-106a	CLIP-seq
MIRT778399	hsa-miR-106b	CLIP-seq
MIRT778400	hsa-miR-1275	CLIP-seq
MIRT778401	hsa-miR-17	CLIP-seq
MIRT778402	hsa-miR-20a	CLIP-seq
MIRT778403	hsa-miR-20b	CLIP-seq
MIRT778404	hsa-miR-23a	CLIP-seq
MIRT778405	hsa-miR-23b	CLIP-seq
MIRT778406	hsa-miR-23c	CLIP-seq
MIRT778420	hsa-miR-2909	CLIP-seq
MIRT778407	hsa-miR-3140-3p	CLIP-seq
MIRT778421	hsa-miR-3149	CLIP-seq
MIRT778408	hsa-miR-323-3p	CLIP-seq
MIRT778422	hsa-miR-34c-3p	CLIP-seq
MIRT778409	hsa-miR-3591-5p	CLIP-seq
MIRT778410	hsa-miR-3609	CLIP-seq
MIRT778423	hsa-miR-3614-3p	CLIP-seq
MIRT778424	hsa-miR-3622a-5p	CLIP-seq
MIRT778425	hsa-miR-3651	CLIP-seq
MIRT778411	hsa-miR-376c	CLIP-seq
MIRT778426	hsa-miR-3935	CLIP-seq
MIRT778412	hsa-miR-4260	CLIP-seq
MIRT778427	hsa-miR-4278	CLIP-seq
MIRT778428	hsa-miR-4423-3p	CLIP-seq
MIRT778413	hsa-miR-4452	CLIP-seq
MIRT778414	hsa-miR-4665-5p	CLIP-seq
MIRT778429	hsa-miR-4675	CLIP-seq
MIRT778430	hsa-miR-4688	CLIP-seq
MIRT778415	hsa-miR-4693-3p	CLIP-seq
MIRT778431	hsa-miR-4741	CLIP-seq
MIRT778432	hsa-miR-4744	CLIP-seq
MIRT740055	hsa-miR-4753-3p	CLIP-seq
MIRT740056	hsa-miR-4768-5p	CLIP-seq
MIRT778416	hsa-miR-4796-3p	CLIP-seq
MIRT778433	hsa-miR-489	CLIP-seq
MIRT778417	hsa-miR-519d	CLIP-seq
MIRT778418	hsa-miR-548ah	CLIP-seq
MIRT778434	hsa-miR-548p	CLIP-seq
MIRT778435	hsa-miR-570	CLIP-seq
MIRT740057	hsa-miR-579	CLIP-seq
MIRT778419	hsa-miR-93	CLIP-seq
MIRT778400	hsa-miR-1275	CLIP-seq
MIRT778404	hsa-miR-23a	CLIP-seq
MIRT778405	hsa-miR-23b	CLIP-seq
MIRT778406	hsa-miR-23c	CLIP-seq
MIRT778408	hsa-miR-323-3p	CLIP-seq
MIRT1929779	hsa-miR-34b	CLIP-seq
MIRT1929780	hsa-miR-3685	CLIP-seq
MIRT778411	hsa-miR-376c	CLIP-seq
MIRT1929781	hsa-miR-384	CLIP-seq
MIRT778412	hsa-miR-4260	CLIP-seq
MIRT778413	hsa-miR-4452	CLIP-seq
MIRT1929782	hsa-miR-4476	CLIP-seq
MIRT1929783	hsa-miR-4477a	CLIP-seq
MIRT778414	hsa-miR-4665-5p	CLIP-seq
MIRT1929784	hsa-miR-4795-3p	CLIP-seq
MIRT1929785	hsa-miR-548ae	CLIP-seq
MIRT1929786	hsa-miR-548aj	CLIP-seq
MIRT1929787	hsa-miR-548am	CLIP-seq
MIRT1929788	hsa-miR-548x	CLIP-seq
MIRT1929789	hsa-miR-656	CLIP-seq
MIRT1929790	hsa-miR-944	CLIP-seq
MIRT2170575	hsa-miR-3163	CLIP-seq
MIRT2170576	hsa-miR-340	CLIP-seq
MIRT2170577	hsa-miR-4282	CLIP-seq
MIRT2170578	hsa-miR-4760-5p	CLIP-seq
MIRT2170579	hsa-miR-4803	CLIP-seq
MIRT2170580	hsa-miR-513a-3p	CLIP-seq
MIRT2170581	hsa-miR-659	CLIP-seq
MIRT2473146	hsa-miR-3613-5p	CLIP-seq
MIRT2473147	hsa-miR-3675-5p	CLIP-seq
MIRT2473148	hsa-miR-369-3p	CLIP-seq
MIRT2473149	hsa-miR-4283	CLIP-seq
MIRT2473150	hsa-miR-4427	CLIP-seq
MIRT2473151	hsa-miR-4489	CLIP-seq
MIRT2473152	hsa-miR-4666-3p	CLIP-seq
MIRT2473153	hsa-miR-4690-3p	CLIP-seq
MIRT2473154	hsa-miR-4775	CLIP-seq
MIRT778435	hsa-miR-570	CLIP-seq
MIRT2473146	hsa-miR-3613-5p	CLIP-seq
MIRT2473147	hsa-miR-3675-5p	CLIP-seq
MIRT2473149	hsa-miR-4283	CLIP-seq
MIRT2473150	hsa-miR-4427	CLIP-seq
MIRT2473151	hsa-miR-4489	CLIP-seq
MIRT2473152	hsa-miR-4666-3p	CLIP-seq
MIRT778435	hsa-miR-570	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0004577	Function	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	IDA	36200043
GO:0004577	Function	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	IDA	36200043
GO:0004577	Function	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	IEA
GO:0004577	Function	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	IMP	22492991
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	23827681
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 33961781, 36200043
GO:0005737	Component	Cytoplasm	IEA
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	IMP	22492991
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IEA
GO:0006488	Process	Dolichol-linked oligosaccharide biosynthetic process	IMP	22492991
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0043541	Component	UDP-N-acetylglucosamine transferase complex	IDA	36200043
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
300776	30881	ENSG00000101901

Q9NP73

Protein name

UDP-N-acetylglucosamine transferase subunit ALG13 (EC 2.4.1.141) (Asparagine-linked glycosylation 13 homolog) (Glycosyltransferase 28 domain-containing protein 1)

Protein function

Catalytic subunit 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-

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04101	Glyco_tran_28_C	3 → 133	Glycosyltransferase family 28 C-terminal domain	Domain
PF02338	OTU	237 → 348	OTU-like cysteine protease	Family

Sequence

MKCVFVTVGTTSFDDLIACVSAPDSLQKIESLGYNRLILQIGRGTVVPEPFSTESFTLDV
YRYKDSLKEDIQKADLVISHAGAGSCLETLEKGKPLVVVINEKLMNNHQLELAKQLHKEG
HLFYCTCRVLTCPGQAKSIASAPGKCQDSAALTSTAFSGLDFGLLSGYLHKQALVTATHP
TCTLLFPSCHAFFPLPLTPTLYKMHKGWKNYCSQKSLNEASMDEYLGSLGLFRKLTAKDA
SCLFRAISEQLFCSQVHHLEIRKACVSYMRENQQTFESYVEGSFEKYLERLGDPKESAGQ
LEIRALSLIYNRDFILYRFPGKPPTYVTDNGYEDKILLCYSSSGHYDSVYSKQFQSSAAV
CQAVLYEILYKDVFVVDEEELKTAIKLFRSGSKKNRNNAVTGSEDAHTDYKSSNQNRMEE
WGACYNAENIPEGYNKGTEETKSPENPSKMPFPYKVLKALDPEIYRNVEFDVWLDSRKEL
QKSDYMEYAGRQYYLGDKCQVCLESEGRYYNAHIQEVGNENNSVTVFIEELAEKHVVPLA
NLKPVTQVMSVPAWNAMPSRKGRGYQKMPGGYVPEIVISEMDIKQQKKMFKKIRGKEVYM
TMAYGKGDPLLPPRLQHSMHYGHDPPMHYSQTAGNVMSNEHFHPQHPSPRQGRGYGMPRN
SSRFINRHNMPGPKVDFYPGPGKRCCQSYDNFSYRSRSFRRSHRQMSCVNKESQYGFTPG
NGQMPRGLEETITFYEVEEGDETAYPTLPNHGGPSTMVPATSGYCVGRRGHSSGKQTLNL
EEGNGQSENGRYHEEYLYRAEPDYETSGVYSTTASTANLSLQDRKSCSMSPQDTVTSYNY
PQKMMGNIAAVAASCANNVPAPVLSNGAAANQAISTTSVSSQNAIQPLFVSPPTHGRPVI
ASPSYPCHSAIPHAGASLPPPPPPPPPPPPPPPPPPPPPPPPPPPALDVGETSNLQPPPP
LPPPPYSCDPSGSDLPQDTKVLQYYFNLGLQCYYHSYWHSMVYVPQMQQQLHVENYPVYT
EPPLVDQTVPQCYSEVRREDGIQAEASANDTFPNADSSSVPHGAVYYPVMSDPYGQPPLP
GFDSCLPVVPDYSCVPPWHPVGTAYGGSSQIHGAINPGPIGCIAPSPPASHYVPQGM

Sequence length

1137

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 (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ALG13-related disorder	Likely pathogenic; Pathogenic	rs398122394	RCV003925015	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital disorder of glycosylation	Likely pathogenic	rs2147626590, rs1569508922	RCV001543374 RCV001543373	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 36	Likely pathogenic; Pathogenic	rs1945385727, rs2147624939, rs2525054281, rs867599353, rs398122394	RCV002221292 RCV002249246 RCV003444180 RCV000032994 RCV000056321 RCV001089751 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypotonia	Likely pathogenic; Pathogenic	rs398122394	RCV001849307	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs398122394	RCV001249505	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic; Pathogenic	rs1157517282, rs398122394	RCV001849838 RCV001849307	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs1945385727, rs398122394	RCV001849835 RCV001849307	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic intellectual disability	Likely pathogenic; Pathogenic	rs398122394	RCV001256982	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs2525558778, rs398122394	RCV004579660 RCV001263094	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (44)

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.
Acute myeloid leukemia	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	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	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1S	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDERS OF GLYCOSYLATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy	Uncertain significance	ClinVar ClinGen, Disgenet ClinGen, Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental and epileptic encephalopathy, 1	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic encephalopathy	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FOCAL GLOMERULOSCLEROSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Focal segmental glomerulosclerosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary ataxia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SYNDROMIC X-LINKED INTELLECTUAL DISABILITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUDDEN INFANT DEATH SYNDROME	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (65)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
2-3 toe syndactyly	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ALG13-CDG	Congenital Disorder Of Glycosylation	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Awakening Epilepsy	Epilepsy	CTD_human_DG	29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia Nonobstructive	Nonobstructive azoospermia	Pubtator	36017582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	CLINVAR_DG	23934111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	23934111, 27476654, 29190809, 33734437, 37469072, 39311797	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract congenital with microcornea or slight microphthalmia	Cataract-microcornea syndrome	Pubtator	33734437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1s	Congenital disorder of glycosylation	GENOMICS_ENGLAND_DG	23934111		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	24501762		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	33407696, 35327592, 37469072, 39311797	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	33734437, 37469072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine system disease	Pubtator	37469072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	29190809	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	CTD_human_DG	29942082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	BEFREE	30872163		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy, Cryptogenic	Epilepsy	CTD_human_DG	29942082		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	22492991, 27604308		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	23934111, 28778787		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	22492991, 25732998		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36	Epileptic encephalopathy	UNIPROT_DG	22492991, 23033978, 23934111, 26138355, 27476654		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36	Epileptic encephalopathy	CLINVAR_DG	23934111, 24781210, 24896178, 25732998, 26138355, 26482601		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	28178702		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Developmental Delay	CLINVAR_DG	23934111		★★★★★ ★☆☆☆☆ 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	33734437	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	35327592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	BEFREE	26138355		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	24501762		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	33734437, 37469072, 39311797	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leiomyoma	Leiomyoma	Pubtator	21685710	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked 1	Mental Retardation, X-Linked	ORPHANET_DG	24501762		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micrognathism	Micrognathism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild neurosensory hearing impairment	Neurosensory Hearing impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	39311797	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	CTD_human_DG	29942082		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31612050		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	27856519	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	33734437, 37583270, 39311797	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	37469072	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	26138355		★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked non-syndromic intellectual disability	Non-Syndromic Intellectual Disability, X-Linked	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit)