GlyCosmos Portal

Annotation

Keyword

Alternative splicing
Direct protein sequencing
Disease variant
Endoplasmic reticulum
Heme
Isomerase
Lyase
Monooxygenase
Prostaglandin biosynthesis
Reference proteome
Transmembrane helix

Proteins

Displaying **all 3** entries
UniProt	Protein Name
P24557	Cytochrome P450 5A1 Hydroperoxy icosatetraenoate dehydratase
Q53F23	Cytochrome P450 5A1
B4DVP1	Cytochrome P450 5A1

Annotation information from UniProt.

Gene Ontology (GO)

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

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GO Term	Evidence Code	PMID
cyclooxygenase pathway
response to fatty acid	IEA
positive regulation of vasoconstriction	IEA
icosanoid metabolic process	IDA TAS	17459323
prostaglandin biosynthetic process	IMP	11097184

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

icosanoid metabolic process

prostanoid metabolic process [inference]

prostaglandin metabolic process [inference]

prostaglandin biosynthetic process

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process [inference]

long-chain fatty acid metabolic process [inference]

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

prostanoid metabolic process [inference]

prostaglandin metabolic process [inference]

prostaglandin biosynthetic process

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process [inference]

long-chain fatty acid metabolic process [inference]

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

prostanoid metabolic process [inference]

prostaglandin metabolic process [inference]

prostaglandin biosynthetic process

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

primary metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process [inference]

long-chain fatty acid metabolic process [inference]

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

prostanoid metabolic process [inference]

prostaglandin metabolic process [inference]

prostaglandin biosynthetic process

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

small molecule metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

icosanoid metabolic process

prostanoid metabolic process [inference]

prostaglandin metabolic process [inference]

prostaglandin biosynthetic process

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process [inference]

long-chain fatty acid metabolic process [inference]

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

prostanoid metabolic process [inference]

prostaglandin metabolic process [inference]

prostaglandin biosynthetic process

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

icosanoid metabolic process

prostanoid metabolic process [inference]

prostaglandin metabolic process [inference]

prostaglandin biosynthetic process

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process [inference]

long-chain fatty acid metabolic process [inference]

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

prostanoid metabolic process [inference]

prostaglandin metabolic process [inference]

prostaglandin biosynthetic process

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

lipid metabolic process [inference]

lipid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process [inference]

long-chain fatty acid metabolic process [inference]

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

prostanoid metabolic process [inference]

prostaglandin metabolic process [inference]

prostaglandin biosynthetic process

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

olefinic compound metabolic process [inference]

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

icosanoid metabolic process

prostanoid metabolic process [inference]

prostaglandin metabolic process [inference]

prostaglandin biosynthetic process

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid metabolic process [inference]

fatty acid metabolic process [inference]

long-chain fatty acid metabolic process [inference]

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

prostanoid metabolic process [inference]

prostaglandin metabolic process [inference]

prostaglandin biosynthetic process

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

icosanoid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

monocarboxylic acid biosynthetic process [inference]

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

cellular lipid metabolic process [inference]

fatty acid metabolic process [inference]

long-chain fatty acid metabolic process [inference]

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

fatty acid biosynthetic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

unsaturated fatty acid metabolic process [inference]

unsaturated fatty acid biosynthetic process [inference]

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

prostanoid metabolic process [inference]

prostaglandin metabolic process [inference]

prostaglandin biosynthetic process

prostanoid biosynthetic process [inference]

prostaglandin biosynthetic process

arachidonic acid metabolic process [inference]

cyclooxygenase pathway

multicellular organismal process [inference]

system process [inference]

circulatory system process [inference]

vascular process in circulatory system [inference]

blood vessel diameter maintenance [inference]

regulation of vasoconstriction [inference]

positive regulation of vasoconstriction

homeostatic process [inference]

cellular homeostasis [inference]

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic anion homeostasis [inference]

intracellular chloride ion homeostasis

chemical homeostasis [inference]

monoatomic ion homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic anion homeostasis [inference]

intracellular chloride ion homeostasis

monoatomic anion homeostasis [inference]

intracellular monoatomic anion homeostasis [inference]

intracellular chloride ion homeostasis

chloride ion homeostasis [inference]

intracellular chloride ion homeostasis

intracellular chemical homeostasis [inference]

intracellular monoatomic ion homeostasis [inference]

intracellular monoatomic anion homeostasis [inference]

intracellular chloride ion homeostasis

inorganic ion homeostasis [inference]

chloride ion homeostasis [inference]

intracellular chloride ion homeostasis

response to stimulus [inference]

response to chemical [inference]

response to organic substance [inference]

response to lipid [inference]

response to fatty acid

response to alcohol [inference]

response to ethanol

response to oxygen-containing compound [inference]

response to fatty acid

response to alcohol [inference]

response to ethanol

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of multicellular organismal process [inference]

positive regulation of vasoconstriction

regulation of multicellular organismal process [inference]

regulation of system process [inference]

regulation of blood circulation [inference]

regulation of vasoconstriction [inference]

positive regulation of vasoconstriction

positive regulation of multicellular organismal process [inference]

positive regulation of vasoconstriction

regulation of biological quality [inference]

regulation of anatomical structure size [inference]

regulation of tube size [inference]

regulation of tube diameter [inference]

blood vessel diameter maintenance [inference]

regulation of vasoconstriction [inference]

positive regulation of vasoconstriction

Displaying **all 3** entries
GO Term	Evidence Code	PMID
endoplasmic reticulum	IDA
cytosol	IDA
endoplasmic reticulum membrane	IDA TAS	8366093

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cytosol

membrane [inference]

organelle membrane [inference]

endoplasmic reticulum membrane

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

endoplasmic reticulum

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GO Term	Evidence Code	PMID
12-hydroxyheptadecatrienoic acid synthase activity
hydroperoxy icosatetraenoate dehydratase activity	IDA	17459323
oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
thromboxane-A synthase activity	IBA IDA IMP TAS	11097184 11297515
monooxygenase activity	IEA

GO Hierarchy

molecular function

catalytic activity [inference]

oxidoreductase activity [inference]

monooxygenase activity

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

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

12-hydroxyheptadecatrienoic acid synthase activity

oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen

lyase activity [inference]

carbon-oxygen lyase activity [inference]

hydro-lyase activity [inference]

hydroperoxy icosatetraenoate dehydratase activity

isomerase activity [inference]

intramolecular oxidoreductase activity [inference]

thromboxane-A synthase activity

binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

iron ion binding

organic cyclic compound binding [inference]

tetrapyrrole binding [inference]

heme binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000059377

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

K01832

Name

thromboxane-A synthase [EC:5.3.99.5]

References

1714723

Rhea

RHEA:55556

a hydroperoxyeicosatetraenoate

an oxoeicosatetraenoate + H₂O

Enzyme

4.2.1.152

PMID

RHEA:37943

(12R)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate

H₂O + 12-oxo-(5Z,8Z,10E,14Z)-eicosatetraenoate

Enzyme

4.2.1.152

PMID

12881489

RHEA:37927

(8S)-hydroperoxy-(5Z,9E,11Z,14Z)-eicosatetraenoate

H₂O + 8-oxo-(5Z,9E,11Z,14Z)-eicosatetraenoate

Enzyme

4.2.1.152

PMID

17045234

RHEA:17137

prostaglandin H₂

thromboxane A₂

Enzyme

5.3.99.5

PMID

RHEA:48636

(15S)-hydroperoxy-(5Z,8Z,11Z,13E)-eicosatetraenoate

H₂O + 15-oxo-(5Z,8Z,11Z,13E)-eicosatetraenoate

Enzyme

4.2.1.152

PMID

RHEA:37935

(8R)-hydroperoxy-(5Z,9E,11Z,14Z)-eicosatetraenoate

H₂O + 8-oxo-(5Z,9E,11Z,14Z)-eicosatetraenoate

Enzyme

4.2.1.152

PMID

17045234

RHEA:37947

(12S)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate

H₂O + 12-oxo-(5Z,8Z,10E,14Z)-eicosatetraenoate

Enzyme

4.2.1.152

PMID

12881489

Disease

Disease Ontology

Displaying entries **1 - 10** of 61 in total

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DO ID	Disease Name	Source
DOID:0050589	inflammatory bowel disease	DisGeNET
DOID:0060903	thrombosis	DisGeNET Alliance of Genome Resources
DOID:0080998	acute necrotizing pancreatitis	Alliance of Genome Resources
DOID:0110892	inflammatory bowel disease 1	DisGeNET
DOID:0110946	autosomal recessive osteopetrosis 7	DisGeNET
DOID:0111047	platelet-type bleeding disorder 14	DisGeNET
DOID:0112251	Ghosal hematodiaphyseal syndrome	Alliance of Genome Resources
DOID:10127	cerebral artery occlusion	DisGeNET
DOID:10283	prostate cancer	DisGeNET DisGeNET
DOID:10286	prostate carcinoma	DisGeNET DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 22 in total

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000944	Abnormal metaphysis morphology
HP:0001744	Splenomegaly
HP:0001873	Thrombocytopenia
HP:0001882	Leukopenia
HP:0001903	Anemia
HP:0002167	Abnormality of speech or vocalization
HP:0002644	Abnormal pelvic girdle bone morphology
HP:0002823	Abnormal femur morphology
HP:0002992	Abnormal tibia morphology

Displaying **all 2** entries
Disease ID	Disease Name
OMIM:231095	ghosal hematodiaphyseal dysplasia
ORPHA:1802	ghosal hematodiaphyseal dysplasia

PubChem Disease

GHR Health Conditions

Ghosal hematodiaphyseal dysplasia

MedGen Diseases

Ghosal hematodiaphyseal dysplasia

OMIM Phenotypes

GHOSAL HEMATODIAPHYSEAL DYSPLASIA; GHDD

KEGG Diseases

Diaphyseal dysplasia with anemia

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

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002420
Gene Name: thromboxane A synthase 1 (platelet)

Ortholog

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Species	Gene ID	Alliance of Genome Resources
Caenorhabditis elegans	174522	WB:WBGene00014254
Caenorhabditis elegans	181462	WB:WBGene00008519
Caenorhabditis elegans	184472	WB:WBGene00008809
Caenorhabditis elegans	184473	WB:WBGene00008810
Caenorhabditis elegans	187068	WB:WBGene00010606
Caenorhabditis elegans	188355	WB:WBGene00011671
Caenorhabditis elegans	188356	WB:WBGene00011672
Caenorhabditis elegans	188357	WB:WBGene00011673
Caenorhabditis elegans	188358	WB:WBGene00011674
Caenorhabditis elegans	188359	WB:WBGene00011675

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

LIPID MAPS Gene / Proteome Database

International Collaboration

Acknowledgements