GlyCosmos Portal

Annotation

Keyword

3D-structure
Alternative splicing
Decarboxylase
Disease variant
Epilepsy
Intellectual disability
Neurotransmitter biosynthesis
Phosphoprotein
Pyridoxal phosphate
Reference proteome

Proteins

Displaying **all 3** entries
UniProt	Protein Name
A0A0S2Z3V5
Q99259	67 kDa glutamic acid decarboxylase Glutamate decarboxylase 67 kDa isoform
Q8IVA8

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 6 in total

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GO Term	Evidence Code	PMID
locomotory exploration behavior	IEA
glutamate catabolic process	IDA TAS	10671565 17384644
social behavior	IEA
gamma-aminobutyric acid biosynthetic process	IBA IDA	17384644
chemical synaptic transmission		8954991

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

amide metabolic process [inference]

glutamate metabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid biosynthetic process

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamate metabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

organonitrogen compound catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

organonitrogen compound biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

catabolic process [inference]

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

small molecule catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

organic substance catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

organonitrogen compound catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

biosynthetic process [inference]

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

organic substance biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

organonitrogen compound biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid biosynthetic process

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamate metabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

monocarboxylic acid metabolic process [inference]

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid biosynthetic process

dicarboxylic acid metabolic process [inference]

succinate metabolic process [inference]

glutamate decarboxylation to succinate

glutamate metabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

primary metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid biosynthetic process

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamate metabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

small molecule metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid biosynthetic process

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamate metabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

monocarboxylic acid metabolic process [inference]

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid biosynthetic process

dicarboxylic acid metabolic process [inference]

succinate metabolic process [inference]

glutamate decarboxylation to succinate

glutamate metabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

small molecule catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid biosynthetic process

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamate metabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

monocarboxylic acid metabolic process [inference]

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid biosynthetic process

dicarboxylic acid metabolic process [inference]

succinate metabolic process [inference]

glutamate decarboxylation to succinate

glutamate metabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid biosynthetic process

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamate metabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

organonitrogen compound catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

organonitrogen compound biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

organic substance catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

organonitrogen compound catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

organic substance biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

organonitrogen compound biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

cellular process [inference]

cell communication [inference]

cell-cell signaling [inference]

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid biosynthetic process

alpha-amino acid metabolic process [inference]

glutamine family amino acid metabolic process [inference]

glutamate metabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

monocarboxylic acid metabolic process [inference]

gamma-aminobutyric acid metabolic process [inference]

gamma-aminobutyric acid biosynthetic process

dicarboxylic acid metabolic process [inference]

succinate metabolic process [inference]

glutamate decarboxylation to succinate

glutamate metabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

cellular catabolic process [inference]

organic acid catabolic process [inference]

carboxylic acid catabolic process [inference]

amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

dicarboxylic acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

alpha-amino acid catabolic process [inference]

glutamine family amino acid catabolic process [inference]

glutamate catabolic process

glutamate decarboxylation to succinate

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

gamma-aminobutyric acid biosynthetic process

multicellular organismal process [inference]

behavior [inference]

locomotory behavior [inference]

locomotory exploration behavior

social behavior

exploration behavior [inference]

locomotory exploration behavior

biological process involved in intraspecies interaction between organisms [inference]

social behavior

biological regulation [inference]

regulation of biological process [inference]

signaling [inference]

cell-cell signaling [inference]

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission

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GO Term	Evidence Code	PMID
clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane
cytoplasm	IBA
inhibitory synapse	IEA
presynaptic active zone	IBA
vesicle membrane		10671565

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytoplasm

cell cortex

membrane [inference]

plasma membrane

organelle membrane [inference]

vesicle membrane

cytoplasmic vesicle membrane [inference]

coated vesicle membrane [inference]

clathrin-coated vesicle membrane [inference]

clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane

bounding membrane of organelle [inference]

coated vesicle membrane [inference]

clathrin-coated vesicle membrane [inference]

clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane

cell junction [inference]

synapse [inference]

neuron projection terminus [inference]

axon terminus

presynaptic active zone

presynapse [inference]

axon terminus

Displaying **all 4** entries
GO Term	Evidence Code	PMID
glutamate decarboxylase activity	IBA IDA	10671565 17384644
pyridoxal phosphate binding	IEA
protein binding	IPI	10671565 16189514 17474147 21516116 25416956 26871637 31515488 32296183
identical protein binding	IDA	17384644

GO Hierarchy

molecular function

catalytic activity [inference]

lyase activity [inference]

carbon-carbon lyase activity [inference]

carboxy-lyase activity [inference]

glutamate decarboxylase activity

binding [inference]

protein binding

identical protein binding

small molecule binding [inference]

vitamin binding [inference]

vitamin B6 binding [inference]

pyridoxal phosphate binding

heterocyclic compound binding [inference]

vitamin B6 binding [inference]

pyridoxal phosphate binding

ion binding [inference]

anion binding [inference]

pyridoxal phosphate binding

organic cyclic compound binding [inference]

vitamin B6 binding [inference]

pyridoxal phosphate binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000128683

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

K01580

Name

glutamate decarboxylase [EC:4.1.1.15]

References

Rhea

RHEA:17785

H⁺ + L-glutamate

CO₂ + 4-aminobutanoate

Enzyme

4.1.1.15

PMID

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0050387	nonpapillary renal cell carcinoma	DisGeNET
DOID:0050524	maturity-onset diabetes of the young	DisGeNET
DOID:0050635	alternating hemiplegia of childhood	DisGeNET
DOID:0050669	spastic cerebral palsy	Alliance of Genome Resources
DOID:0050741	alcohol dependence	DisGeNET Alliance of Genome Resources
DOID:0050753	cerebellar ataxia	DisGeNET
DOID:0050819	obsolete Matthew-Wood syndrome	DisGeNET
DOID:0050835	generalized dystonia	DisGeNET
DOID:0050841	focal hand dystonia	DisGeNET
DOID:0050848	obstructive sleep apnea	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000059	Hypoplastic labia majora
HP:0000064	Hypoplastic labia minora
HP:0000175	Cleft palate
HP:0000219	Thin upper lip vermilion
HP:0000256	Macrocephaly
HP:0000308	Microretrognathia
HP:0000316	Hypertelorism
HP:0000319	Smooth philtrum
HP:0000343	Long philtrum

Displaying 1 entry
Disease ID	Disease Name
OMIM:619124	developmental and epileptic encephalopathy 89

PubChem Disease

MedGen Diseases

Developmental and epileptic encephalopathy 89

OMIM Phenotypes

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89

KEGG Diseases

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

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	176713	WB:WBGene00006762
Drosophila melanogaster	38484	FB:FBgn0004516
Ciona intestinalis	448951		CIOIN12585
Callorhinchus milii	103176432		CALMI10289
Latimeria chalumnae	102357374		LATCH08598
Danio rerio	100329827	ZFIN:ZDB-GENE-070912-472	DANRE45226
Danio rerio	378441	ZFIN:ZDB-GENE-030909-3
Astyanax mexicanus	103023147		ASTMX00487
Astyanax mexicanus	103027950		ASTMX08660
Ictalurus punctatus	108266829		ICTPU30979

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements