GlyCosmos Portal

Annotation

Keyword

3D-structure
Acetylation
Allosteric enzyme
Alternative splicing
Carbohydrate metabolism
Disease variant
Epilepsy
NAD
Oxidoreductase
Phosphoprotein
Reference proteome

Proteins

Displaying 1 entry
UniProt	Protein Name
O60701

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 7 in total

1

2

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GO Term	Evidence Code	PMID
chondroitin sulfate biosynthetic process	ISS
UDP-glucuronate biosynthetic process	IDA IEA	27966912
heparan sulfate proteoglycan biosynthetic process	ISS
glycosaminoglycan biosynthetic process	IBA
gastrulation with mouth forming second	ISS

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

sulfur compound biosynthetic process [inference]

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

organic cyclic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

sulfur compound metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

phosphorus metabolic process [inference]

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

sulfur compound biosynthetic process [inference]

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

small molecule metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

macromolecule metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

carbohydrate derivative metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

organic cyclic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

organonitrogen compound metabolic process [inference]

aminoglycan metabolic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycosaminoglycan metabolic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

mucopolysaccharide metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

proteoglycan metabolic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organic substance biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

carbohydrate derivative biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

organic cyclic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

organonitrogen compound biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

sulfur compound metabolic process [inference]

chondroitin sulfate metabolic process [inference]

chondroitin sulfate biosynthetic process

sulfur compound biosynthetic process [inference]

phosphorus metabolic process [inference]

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

aminoglycan biosynthetic process [inference]

glycosaminoglycan biosynthetic process

chondroitin sulfate biosynthetic process

glycoprotein biosynthetic process [inference]

proteoglycan biosynthetic process [inference]

heparan sulfate proteoglycan biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

UDP-glucuronate biosynthetic process

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

aromatic compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

cellular nitrogen compound biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

sulfur compound biosynthetic process [inference]

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

nucleobase-containing small molecule metabolic process [inference]

nucleotide-sugar metabolic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

UDP-glucuronate metabolic process [inference]

UDP-glucuronate biosynthetic process

heterocycle biosynthetic process [inference]

nucleobase-containing compound biosynthetic process [inference]

nucleotide-sugar biosynthetic process [inference]

UDP-glucuronate biosynthetic process

cellular developmental process [inference]

cell development [inference]

neuron development

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cellular component assembly [inference]

protein-containing complex assembly [inference]

protein complex oligomerization [inference]

protein hexamerization

protein-containing complex organization [inference]

protein-containing complex assembly [inference]

protein complex oligomerization [inference]

protein hexamerization

developmental process [inference]

anatomical structure morphogenesis [inference]

embryonic morphogenesis [inference]

gastrulation [inference]

gastrulation with mouth forming second

anatomical structure development [inference]

cell development [inference]

neuron development

cellular developmental process [inference]

cell development [inference]

neuron development

Displaying **all 4** entries
GO Term	Evidence Code	PMID
nucleus	IBA
cytosol
extracellular exosome	HDA	23533145
nucleoplasm	IDA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

nucleus

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying **all 3** entries
GO Term	Evidence Code	PMID
UDP-glucose 6-dehydrogenase activity	IDA	27966912
NAD binding	IEA
identical protein binding	IPI	25416956 32001716

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

oxidoreductase activity, acting on CH-OH group of donors [inference]

oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor [inference]

UDP-glucose 6-dehydrogenase activity

binding [inference]

protein binding [inference]

identical protein binding

small molecule binding [inference]

heterocyclic compound binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

NAD binding

organic cyclic compound binding [inference]

nucleoside phosphate binding [inference]

nucleotide binding [inference]

purine nucleotide binding [inference]

adenyl nucleotide binding [inference]

NAD binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000109814

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K00012

Name

UDPglucose 6-dehydrogenase [EC:1.1.1.22]

References

21961565

Rhea

RHEA:23596

H₂O + NAD⁺ + UDP-α-D-glucose

H⁺ + NADH + UDP-α-D-glucuronate

Enzyme

1.1.1.22

PMID

Disease

Disease Ontology

Displaying entries **1 - 10** of 34 in total

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DO ID	Disease Name	Source
DOID:11175	enophthalmos	DisGeNET
DOID:10718	giardiasis	DisGeNET
DOID:0050782	Zollinger-Ellison syndrome	DisGeNET
DOID:0050830	peripheral artery disease	DisGeNET
DOID:0112219	developmental and epileptic encephalopathy 84	Alliance of Genome Resources
DOID:10241	thalassemia	DisGeNET
DOID:12241	beta thalassemia	DisGeNET DisGeNET
DOID:12361	Graves' disease	DisGeNET
DOID:1324	lung cancer	DisGeNET
DOID:1325	bronchus cancer	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 31 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000179	Thick lower lip vermilion
HP:0000252	Microcephaly
HP:0000286	Epicanthus
HP:0000307	Pointed chin
HP:0000319	Smooth philtrum
HP:0000490	Deeply set eye
HP:0000508	Ptosis
HP:0000581	Blepharophimosis
HP:0000664	Synophrys

Displaying 1 entry
Disease ID	Disease Name
OMIM:618792	developmental and epileptic encephalopathy, 84

PubChem Disease

MedGen Diseases

Developmental and epileptic encephalopathy, 84

OMIM Phenotypes

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84

KEGG Diseases

Early infantile epileptic encephalopathy

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **1 - 10** of 85 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	179484	WB:WBGene00005022
Drosophila melanogaster	38760	FB:FBgn0261445
Callorhinchus milii	103175860		CALMI08818
Danio rerio	116991	ZFIN:ZDB-GENE-011022-1	DANRE48397
Electrophorus electricus	113579955		ELEEL25182
Gadus morhua	115540832		GADMO41492
Oryzias latipes	101166190		ORYLA00354
Oreochromis niloticus	100692365		ORENI63456
Sparus aurata	115580601		SPAAU53858
Xenopus laevis	379152	Xenbase:XB-GENE-950977

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements