GlyCosmos Portal

Annotation

Keyword

3D-structure
Alternative splicing
Cataract
Ciliopathy
Cilium
Cilium biogenesis/degradation
Coated pit
Cytoplasmic vesicle
Disease variant
Endosome
Golgi apparatus
Hydrolase
Lipid metabolism
Lysosome
Reference proteome

Proteins

Displaying **all 3** entries
UniProt	Protein Name
Q01968	Inositol polyphosphate 5-phosphatase OCRL-1 Lowe oculocerebrorenal syndrome protein Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase
Q504W7
A0A2X0TVZ9

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 9 in total

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GO Term	Evidence Code	PMID
membrane organization
cilium assembly	IMP	22228094 22543976
lipid metabolic process		1321346
phosphatidylinositol-3-phosphate biosynthetic process	IEA
phosphatidylinositol biosynthetic process

GO Hierarchy

biological process

metabolic process [inference]

biosynthetic process [inference]

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

dephosphorylation [inference]

phospholipid dephosphorylation [inference]

phosphatidylinositol dephosphorylation

inositol phosphate metabolic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

inositol phosphate metabolic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

lipid modification [inference]

phospholipid dephosphorylation [inference]

phosphatidylinositol dephosphorylation

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

primary metabolic process [inference]

lipid metabolic process

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

lipid modification [inference]

phospholipid dephosphorylation [inference]

phosphatidylinositol dephosphorylation

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

small molecule metabolic process [inference]

alcohol metabolic process [inference]

polyol metabolic process [inference]

inositol phosphate metabolic process

organic substance metabolic process [inference]

lipid metabolic process

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

lipid modification [inference]

phospholipid dephosphorylation [inference]

phosphatidylinositol dephosphorylation

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

inositol phosphate metabolic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

organic hydroxy compound metabolic process [inference]

alcohol metabolic process [inference]

polyol metabolic process [inference]

inositol phosphate metabolic process

cellular process [inference]

signal transduction

cellular metabolic process [inference]

phosphorus metabolic process [inference]

phosphate-containing compound metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

dephosphorylation [inference]

phospholipid dephosphorylation [inference]

phosphatidylinositol dephosphorylation

inositol phosphate metabolic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

inositol phosphate metabolic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

lipid modification [inference]

phospholipid dephosphorylation [inference]

phosphatidylinositol dephosphorylation

glycerolipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol metabolic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

phosphatidylinositol dephosphorylation

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol phosphate biosynthetic process [inference]

phosphatidylinositol-3-phosphate biosynthetic process

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cilium organization [inference]

cilium assembly

organelle assembly [inference]

cilium assembly

cellular component assembly [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

organelle assembly [inference]

cilium assembly

cell projection organization [inference]

cell projection assembly [inference]

plasma membrane bounded cell projection assembly [inference]

cilium assembly

plasma membrane bounded cell projection organization [inference]

cilium organization [inference]

cilium assembly

plasma membrane bounded cell projection assembly [inference]

cilium assembly

membrane organization

multicellular organismal process [inference]

multicellular organism development [inference]

embryo development [inference]

embryo development ending in birth or egg hatching [inference]

chordate embryonic development [inference]

in utero embryonic development

developmental process [inference]

anatomical structure development [inference]

multicellular organism development [inference]

embryo development [inference]

embryo development ending in birth or egg hatching [inference]

chordate embryonic development [inference]

in utero embryonic development

biological regulation [inference]

regulation of biological process [inference]

regulation of cellular process [inference]

signal transduction

Displaying entries **1 - 5** of 15 in total

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GO Term	Evidence Code	PMID
nucleus	IDA	12915445
clathrin-coated pit	IEA
cytosol
cytoplasm	IBA IDA	12915445
trans-Golgi network	IDA	12915445

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

plasma membrane

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

endosome membrane [inference]

early endosome membrane

endocytic vesicle membrane [inference]

phagocytic vesicle membrane

bounding membrane of organelle [inference]

endosome membrane [inference]

early endosome membrane

endocytic vesicle membrane [inference]

phagocytic vesicle membrane

plasma membrane region [inference]

clathrin-coated pit

organelle subcompartment [inference]

Golgi apparatus subcompartment [inference]

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

early endosome

Golgi-associated vesicle

coated vesicle [inference]

clathrin-coated vesicle

intracellular membrane-bounded organelle [inference]

nucleus

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

early endosome

Golgi-associated vesicle

coated vesicle [inference]

clathrin-coated vesicle

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

vacuole [inference]

lytic vacuole [inference]

lysosome

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome [inference]

early endosome

Golgi-associated vesicle

coated vesicle [inference]

clathrin-coated vesicle

Displaying entries **1 - 5** of 11 in total

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GO Term	Evidence Code	PMID
inositol phosphate phosphatase activity	IDA NAS	1321346 25869668
small GTPase binding	IPI	12915445
phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA
inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	IEA
phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity

GO Hierarchy

molecular function

catalytic activity [inference]

hydrolase activity [inference]

hydrolase activity, acting on ester bonds [inference]

phosphoric ester hydrolase activity [inference]

phosphatase activity [inference]

inositol phosphate phosphatase activity

inositol trisphosphate phosphatase activity [inference]

inositol tetrakisphosphate phosphatase activity [inference]

inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity

phosphatidylinositol phosphate phosphatase activity [inference]

phosphatidylinositol bisphosphate phosphatase activity [inference]

phosphatidylinositol-3,5-bisphosphate phosphatase activity [inference]

phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity

phosphatidylinositol-4,5-bisphosphate phosphatase activity [inference]

phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity

phosphatidylinositol trisphosphate phosphatase activity [inference]

phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity

phosphatidylinositol phosphate 5-phosphatase activity [inference]

phosphatidylinositol phosphate 4-phosphatase activity

binding [inference]

protein binding

enzyme binding [inference]

GTPase binding [inference]

small GTPase binding

molecular function regulator activity [inference]

enzyme regulator activity [inference]

enzyme activator activity [inference]

GTPase activator activity

nucleoside-triphosphatase regulator activity [inference]

GTPase regulator activity [inference]

GTPase activator activity

molecular function activator activity [inference]

enzyme activator activity [inference]

GTPase activator activity

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000122126

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

K01099

Name

inositol polyphosphate 5-phosphatase INPP5B/F [EC:3.1.3.36]

References

Rhea

RHEA:19797

H₂O + 1D-myo-inositol 1,4,5-trisphosphate

phosphate + 1D-myo-inositol 1,4-bisphosphate

Enzyme

3.1.3.56

PMID

RHEA:22764

H₂O + a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate)

phosphate + a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate)

Enzyme

3.1.3.36

PMID

RHEA:11392

H₂O + 1D-myo-inositol 1,3,4,5-tetrakisphosphate

phosphate + 1D-myo-inositol 1,3,4-trisphosphate

Enzyme

3.1.3.56

PMID

RHEA:25528

H₂O + a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5-trisphosphate)

phosphate + a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4-bisphosphate)

Enzyme

3.1.3.86

PMID

Disease

Disease Ontology

Displaying entries **21 - 30** of **155** in total

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DO ID	Disease Name	Source
DOID:0110238	cataract 18	DisGeNET
DOID:0110239	cataract 12 multiple types	DisGeNET
DOID:0110240	cataract 20 multiple types	DisGeNET
DOID:0110241	cataract 41	DisGeNET
DOID:0110242	cataract 13 with adult i phenotype	DisGeNET
DOID:0110243	cataract 46 juvenile-onset	DisGeNET
DOID:0110245	cataract 38	DisGeNET
DOID:0110246	cataract 26 multiple types	DisGeNET
DOID:0110248	cataract 30	DisGeNET
DOID:0110249	cataract 11 multiple types	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000023	Inguinal hernia
HP:0000027	Azoospermia
HP:0000028	Cryptorchidism
HP:0000083	Renal insufficiency
HP:0000091	Abnormal renal tubule morphology
HP:0000093	Proteinuria
HP:0000114	Proximal tubulopathy
HP:0000121	Nephrocalcinosis
HP:0000164	Abnormality of the dentition
HP:0000189	Narrow palate

Displaying **all 3** entries
Disease ID	Disease Name
OMIM:300555	Dent disease type 2
OMIM:309000	oculocerebrorenal syndrome
ORPHA:534	oculocerebrorenal syndrome

PubChem Disease

GHR Health Conditions

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

LIPID MAPS Gene / Proteome Database

LMPD ID: LMP002091
Gene Name: oculocerebrorenal syndrome of Lowe

Ortholog

Displaying entries **1 - 10** of 69 in total

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	172822	WB:WBGene00007620
Drosophila melanogaster	31157	FB:FBgn0023508
Callorhinchus milii	103177560		CALMI01483
Danio rerio	777716	ZFIN:ZDB-GENE-061110-61	DANRE07683
Ictalurus punctatus	108269006		ICTPU33795
Electrophorus electricus	113586134		ELEEL37312
Salmo salar	106604433		SALSA123955
Salmo salar	106611524		SALSA140532
Salmo trutta	115170113		SALTR44510
Salmo trutta	115205074		SALTR110001

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