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myotubularin related protein 2

Summary

Gene Symbol

MTMR2

Aliases

KIAA1073
phosphatidylinositol-3-phosphatase
phosphoinositide-3-phosphatase

Organism

Homo sapiens (human)

External Links

NCBI Gene

8898

HGNC

7450

KEGG Gene ID

hsa:8898

PubChem

8898

Alliance of Genome Resources

HGNC:7450

Annotation

Keyword

3D-structure
Alternative splicing
Cell projection
Charcot-Marie-Tooth disease
Coiled coil
Cytoplasm
Disease variant
Endosome
Hydrolase
Lipid metabolism
Membrane
Neurodegeneration
Phosphoprotein
Reference proteome

Proteins

Displaying 1 entry
UniProt	Protein Name
Q13614	Phosphatidylinositol-3,5-bisphosphate 3-phosphatase Phosphatidylinositol-3-phosphate phosphatase

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 13 in total

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GO Term	Evidence Code	PMID
regulation of phosphatidylinositol dephosphorylation	IDA	16787938
myelin assembly	IEA
positive regulation of early endosome to late endosome transport	ISS
negative regulation of receptor catabolic process	ISS
dendritic spine maintenance	ISS

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein dephosphorylation

biosynthetic process [inference]

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol 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 metabolic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

dephosphorylation [inference]

protein dephosphorylation

phospholipid dephosphorylation [inference]

phosphatidylinositol dephosphorylation

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol 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 metabolic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol 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 metabolic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

protein dephosphorylation

organic substance metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol 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 metabolic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein dephosphorylation

macromolecule modification [inference]

protein modification process [inference]

protein dephosphorylation

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

protein dephosphorylation

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular process [inference]

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 metabolic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

dephosphorylation [inference]

protein dephosphorylation

phospholipid dephosphorylation [inference]

phosphatidylinositol dephosphorylation

organophosphate metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

organophosphate biosynthetic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular biosynthetic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

cellular lipid metabolic process [inference]

phospholipid metabolic process [inference]

glycerophospholipid metabolic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol biosynthetic process

phosphatidylinositol metabolic process [inference]

phospholipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol 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 metabolic process [inference]

glycerolipid biosynthetic process [inference]

glycerophospholipid biosynthetic process [inference]

phosphatidylinositol 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]

cellular component assembly involved in morphogenesis [inference]

myelin assembly

cell projection organization [inference]

plasma membrane bounded cell projection organization [inference]

neuron projection organization [inference]

dendritic spine organization [inference]

dendritic spine maintenance

cellular component maintenance [inference]

dendritic spine maintenance

postsynapse organization [inference]

dendritic spine organization [inference]

dendritic spine maintenance

developmental process [inference]

anatomical structure formation involved in morphogenesis [inference]

cellular component assembly involved in morphogenesis [inference]

myelin assembly

anatomical structure development [inference]

cell development [inference]

neuron development

cellular developmental process [inference]

cell development [inference]

neuron development

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

negative regulation of metabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of receptor catabolic process

negative regulation of macromolecule metabolic process [inference]

negative regulation of receptor catabolic process

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of receptor catabolic process

regulation of catabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of receptor catabolic process

regulation of cellular catabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of receptor catabolic process

regulation of receptor catabolic process [inference]

negative regulation of receptor catabolic process

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of receptor catabolic process

regulation of cellular catabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of receptor catabolic process

regulation of receptor catabolic process [inference]

negative regulation of receptor catabolic process

regulation of phosphorus metabolic process [inference]

regulation of phosphate metabolic process [inference]

regulation of dephosphorylation [inference]

regulation of phosphatidylinositol dephosphorylation

regulation of phospholipid metabolic process [inference]

regulation of phosphatidylinositol dephosphorylation

regulation of macromolecule metabolic process [inference]

negative regulation of macromolecule metabolic process [inference]

negative regulation of receptor catabolic process

regulation of phosphatidylinositol dephosphorylation

regulation of receptor catabolic process [inference]

negative regulation of receptor catabolic process

regulation of primary metabolic process [inference]

regulation of lipid metabolic process [inference]

regulation of phospholipid metabolic process [inference]

regulation of phosphatidylinositol dephosphorylation

regulation of signaling [inference]

regulation of signal transduction [inference]

modulation of excitatory postsynaptic potential [inference]

negative regulation of excitatory postsynaptic potential

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

modulation of excitatory postsynaptic potential [inference]

negative regulation of excitatory postsynaptic potential

regulation of localization [inference]

regulation of transport [inference]

regulation of intracellular transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of early endosome to late endosome transport

regulation of early endosome to late endosome transport [inference]

positive regulation of early endosome to late endosome transport

positive regulation of transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of early endosome to late endosome transport

negative regulation of transport [inference]

negative regulation of endocytosis

negative regulation of receptor-mediated endocytosis [inference]

negative regulation of receptor internalization

regulation of vesicle-mediated transport [inference]

regulation of endocytosis [inference]

negative regulation of endocytosis

negative regulation of receptor-mediated endocytosis [inference]

negative regulation of receptor internalization

regulation of receptor-mediated endocytosis [inference]

regulation of receptor internalization [inference]

negative regulation of receptor internalization

negative regulation of receptor-mediated endocytosis [inference]

negative regulation of receptor internalization

regulation of early endosome to late endosome transport [inference]

positive regulation of early endosome to late endosome transport

regulation of cellular localization [inference]

regulation of intracellular transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of early endosome to late endosome transport

regulation of early endosome to late endosome transport [inference]

positive regulation of early endosome to late endosome transport

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of intracellular transport [inference]

positive regulation of early endosome to late endosome transport

positive regulation of transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of early endosome to late endosome transport

negative regulation of biological process [inference]

negative regulation of metabolic process [inference]

negative regulation of catabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of receptor catabolic process

negative regulation of macromolecule metabolic process [inference]

negative regulation of receptor catabolic process

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of receptor catabolic process

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of receptor catabolic process

negative regulation of myelination

negative regulation of cellular component organization [inference]

negative regulation of endocytosis

negative regulation of receptor-mediated endocytosis [inference]

negative regulation of receptor internalization

negative regulation of transport [inference]

negative regulation of endocytosis

negative regulation of receptor-mediated endocytosis [inference]

negative regulation of receptor internalization

negative regulation of multicellular organismal process [inference]

negative regulation of nervous system process [inference]

negative regulation of myelination

negative regulation of excitatory postsynaptic potential

regulation of response to stimulus [inference]

regulation of signal transduction [inference]

modulation of excitatory postsynaptic potential [inference]

negative regulation of excitatory postsynaptic potential

regulation of developmental process [inference]

regulation of multicellular organismal development [inference]

regulation of nervous system development [inference]

regulation of myelination [inference]

negative regulation of myelination

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of signal transduction [inference]

modulation of excitatory postsynaptic potential [inference]

negative regulation of excitatory postsynaptic potential

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

modulation of excitatory postsynaptic potential [inference]

negative regulation of excitatory postsynaptic potential

regulation of cellular metabolic process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of receptor catabolic process

regulation of cellular catabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of receptor catabolic process

regulation of receptor catabolic process [inference]

negative regulation of receptor catabolic process

regulation of phosphorus metabolic process [inference]

regulation of phosphate metabolic process [inference]

regulation of dephosphorylation [inference]

regulation of phosphatidylinositol dephosphorylation

regulation of phospholipid metabolic process [inference]

regulation of phosphatidylinositol dephosphorylation

regulation of myelination [inference]

negative regulation of myelination

positive regulation of cellular process [inference]

positive regulation of intracellular transport [inference]

positive regulation of early endosome to late endosome transport

negative regulation of cellular process [inference]

negative regulation of cellular metabolic process [inference]

negative regulation of cellular catabolic process [inference]

negative regulation of receptor catabolic process

negative regulation of myelination

negative regulation of cellular component organization [inference]

negative regulation of endocytosis

negative regulation of receptor-mediated endocytosis [inference]

negative regulation of receptor internalization

regulation of cellular component organization [inference]

regulation of endocytosis [inference]

negative regulation of endocytosis

negative regulation of receptor-mediated endocytosis [inference]

negative regulation of receptor internalization

regulation of receptor-mediated endocytosis [inference]

regulation of receptor internalization [inference]

negative regulation of receptor internalization

negative regulation of receptor-mediated endocytosis [inference]

negative regulation of receptor internalization

negative regulation of cellular component organization [inference]

negative regulation of endocytosis

negative regulation of receptor-mediated endocytosis [inference]

negative regulation of receptor internalization

regulation of cellular localization [inference]

regulation of intracellular transport [inference]

positive regulation of intracellular transport [inference]

positive regulation of early endosome to late endosome transport

regulation of early endosome to late endosome transport [inference]

positive regulation of early endosome to late endosome transport

regulation of vesicle-mediated transport [inference]

regulation of endocytosis [inference]

negative regulation of endocytosis

negative regulation of receptor-mediated endocytosis [inference]

negative regulation of receptor internalization

regulation of receptor-mediated endocytosis [inference]

regulation of receptor internalization [inference]

negative regulation of receptor internalization

negative regulation of receptor-mediated endocytosis [inference]

negative regulation of receptor internalization

regulation of early endosome to late endosome transport [inference]

positive regulation of early endosome to late endosome transport

regulation of multicellular organismal process [inference]

regulation of system process [inference]

regulation of nervous system process [inference]

negative regulation of nervous system process [inference]

negative regulation of myelination

modulation of excitatory postsynaptic potential [inference]

negative regulation of excitatory postsynaptic potential

negative regulation of multicellular organismal process [inference]

negative regulation of nervous system process [inference]

negative regulation of myelination

regulation of multicellular organismal development [inference]

regulation of nervous system development [inference]

regulation of myelination [inference]

negative regulation of myelination

regulation of biological quality [inference]

regulation of membrane potential [inference]

modulation of excitatory postsynaptic potential [inference]

negative regulation of excitatory postsynaptic potential

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GO Term	Evidence Code	PMID
nucleus	IDA	12837694 16787938
intracellular membrane-bounded organelle	IDA
cytosol	IDA ISS TAS	12668758
cytoplasm	IBA IDA	12837694
synaptic vesicle	ISS

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane [inference]

endosome membrane [inference]

early endosome membrane

bounding membrane of organelle [inference]

vacuolar membrane

endosome membrane [inference]

early endosome membrane

plasma membrane region [inference]

synaptic membrane

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

neuron spine [inference]

dendritic spine

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

transport vesicle [inference]

exocytic vesicle [inference]

synaptic vesicle

secretory vesicle [inference]

exocytic vesicle [inference]

synaptic vesicle

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle

nucleus

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

transport vesicle [inference]

exocytic vesicle [inference]

synaptic vesicle

secretory vesicle [inference]

exocytic vesicle [inference]

synaptic vesicle

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle

nucleus

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

transport vesicle [inference]

exocytic vesicle [inference]

synaptic vesicle

secretory vesicle [inference]

exocytic vesicle [inference]

synaptic vesicle

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

postsynaptic specialization [inference]

postsynaptic density

perinuclear region of cytoplasm

postsynapse [inference]

dendritic spine

Displaying **all 5** entries
GO Term	Evidence Code	PMID
phosphatidylinositol-3-phosphate phosphatase activity	IBA IDA TAS	12668758
protein tyrosine/serine/threonine phosphatase activity		9736772
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	IBA IDA TAS	12668758
protein binding	IPI	12837694 12847286 15998640 27880917
identical protein binding	IEA

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]

phosphoprotein phosphatase activity [inference]

protein tyrosine/serine/threonine phosphatase activity

phosphatidylinositol phosphate phosphatase activity [inference]

phosphatidylinositol bisphosphate phosphatase activity [inference]

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

phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity

phosphatidylinositol monophosphate phosphatase activity [inference]

phosphatidylinositol-3-phosphate phosphatase activity

catalytic activity, acting on a protein [inference]

phosphoprotein phosphatase activity [inference]

protein tyrosine/serine/threonine phosphatase activity

binding [inference]

protein binding

identical protein binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000087053

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

K18081

Name

myotubularin-related protein 1/2 [EC:3.1.3.64 3.1.3.95]

References

12847286

Rhea

RHEA:12316

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

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

Enzyme

3.1.3.64

PMID

RHEA:39019

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

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

Enzyme

3.1.3.95

PMID

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0050539	Charcot-Marie-Tooth disease type 2	DisGeNET DisGeNET
DOID:0050540	Charcot-Marie-Tooth disease type 3	DisGeNET
DOID:0050541	Charcot-Marie-Tooth disease type 4	DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0060600	obsolete hereditary motor and sensory neuropathy with agenesis of the corpus callosum	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0060843	hereditary neuropathy with liability to pressure palsies	DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0070161	hereditary sensory and autonomic neuropathy type 2	DisGeNET
DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110148	Charcot-Marie-Tooth disease type 1A	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET
DOID:0110149	Charcot-Marie-Tooth disease type 1F	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0001270	Motor delay
HP:0001762	Talipes equinovarus
HP:0002460	Distal muscle weakness
HP:0002650	Scoliosis
HP:0002936	Distal sensory impairment
HP:0003431	Decreased motor nerve conduction velocity
HP:0003693	Distal amyotrophy
HP:0003701	Proximal muscle weakness
HP:0004336	Myelin outfoldings

Displaying 1 entry
Disease ID	Disease Name
OMIM:601382	Charcot-Marie-Tooth disease type 4B1

PubChem Disease

MedGen Diseases

Charcot-Marie-Tooth disease type 4B1

OMIM Phenotypes

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1; CMT4B1

KEGG Diseases

Charcot-Marie-Tooth disease

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

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	172148	WB:WBGene00003475
Drosophila melanogaster	33845	FB:FBgn0025742
Danio rerio	30644	ZFIN:ZDB-GENE-990715-14	DANRE36843
Astyanax mexicanus	103046532		ASTMX20258
Ictalurus punctatus	108259814		ICTPU22541
Salmo salar	106567844		SALSA31608
Salmo trutta	115149004		SALTR19209
Salmo trutta	115154463		SALTR103468
Oryzias latipes	101157315		ORYLA04248
Oreochromis niloticus	100695960		ORENI02863

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements