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LARGE xylosyl- and glucuronyltransferase 1

Summary

Gene Symbol

LARGE1

Aliases

KIAA0609
like-acetylglucosaminyltransferase

Organism

Homo sapiens (human)

External Links

NCBI Gene

9215

GGDB ID

gg171

HGNC

6511

mRNA

NM_004737

map

22q12.3

Protein

NP_004728

OMIM

603590

KEGG Gene ID

hsa:9215

PubChem

9215

Alliance of Genome Resources

HGNC:6511

Annotation

Keyword

3D-structure
Alternative splicing
Coiled coil
Congenital muscular dystrophy
Disease variant
Dystroglycanopathy
Glycoprotein
Glycosyltransferase
Golgi apparatus
Lissencephaly
Manganese
Metal-binding
Multifunctional enzyme
Reference proteome
Signal-anchor
Transferase
Transmembrane helix

Proteins

Displaying **all 2** entries
UniProt	Protein Name
X5DR28
O95461	Acetylglucosaminyltransferase-like 1A Glycosyltransferase-like protein LARGE xylosyl- and glucuronyltransferase 1

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 53 in total

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GO Term	Evidence Code	PMID
acetylcholine receptor signaling pathway	IEA
sensory perception of sound	IEA
striated muscle contraction	IEA
synaptic assembly at neuromuscular junction	IEA
reactive gliosis	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process

protein modification process [inference]

protein glycosylation

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

post-translational protein modification

organonitrogen compound biosynthetic process [inference]

glycoprotein biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

macromolecule biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

organonitrogen compound biosynthetic process [inference]

glycoprotein biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid biosynthetic process

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

primary metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid biosynthetic process

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid biosynthetic process

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process

protein modification process [inference]

protein glycosylation

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

post-translational protein modification

glycosylation [inference]

macromolecule glycosylation [inference]

protein glycosylation

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

mannosylation [inference]

protein mannosylation [inference]

protein O-linked mannosylation

organic substance metabolic process [inference]

lipid metabolic process [inference]

lipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid biosynthetic process

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid biosynthetic process

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

macromolecule metabolic process [inference]

macromolecule biosynthetic process [inference]

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process

protein modification process [inference]

protein glycosylation

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

post-translational protein modification

macromolecule modification [inference]

protein modification process [inference]

protein glycosylation

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

post-translational protein modification

macromolecule glycosylation [inference]

protein glycosylation

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

carbohydrate derivative metabolic process [inference]

amino sugar metabolic process [inference]

glucosamine-containing compound metabolic process [inference]

N-acetylglucosamine metabolic process

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

liposaccharide metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid biosynthetic process

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

organonitrogen compound metabolic process [inference]

sphingolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

protein metabolic process [inference]

glycoprotein metabolic process [inference]

glycoprotein biosynthetic process

protein modification process [inference]

protein glycosylation

protein O-linked glycosylation

protein O-linked mannosylation

protein mannosylation [inference]

protein O-linked mannosylation

post-translational protein modification

organonitrogen compound biosynthetic process [inference]

glycoprotein biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

organic substance biosynthetic process [inference]

lipid biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

macromolecule biosynthetic process [inference]

carbohydrate derivative biosynthetic process [inference]

glycoprotein biosynthetic process

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

organonitrogen compound biosynthetic process [inference]

glycoprotein biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid 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 [inference]

neuromuscular synaptic transmission

signal transduction [inference]

postsynaptic signal transduction [inference]

acetylcholine receptor signaling pathway

ensheathment of neurons [inference]

axon ensheathment [inference]

myelination

cellular metabolic process [inference]

cellular biosynthetic process [inference]

macromolecule biosynthetic process [inference]

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

cellular lipid metabolic process [inference]

membrane lipid metabolic process [inference]

glycolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid biosynthetic process

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid metabolic process [inference]

glycosphingolipid metabolic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

membrane lipid biosynthetic process [inference]

glycolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

sphingolipid biosynthetic process [inference]

glycosphingolipid biosynthetic process

cellular developmental process [inference]

cell differentiation [inference]

leukocyte differentiation [inference]

myeloid leukocyte differentiation [inference]

macrophage differentiation

glial cell differentiation [inference]

astrocyte differentiation

myeloid cell differentiation [inference]

myeloid leukocyte differentiation [inference]

macrophage differentiation

skeletal muscle cell differentiation [inference]

skeletal muscle fiber differentiation

muscle cell differentiation [inference]

striated muscle cell differentiation [inference]

myotube differentiation [inference]

skeletal muscle fiber differentiation

cell development [inference]

muscle cell development [inference]

myotube cell development [inference]

skeletal muscle fiber development

cardiac cell development [inference]

cardiac muscle cell development

cell motility [inference]

cell migration [inference]

neuron migration

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport

localization within membrane [inference]

protein localization to membrane [inference]

protein localization to plasma membrane

establishment of protein localization to membrane [inference]

protein targeting to membrane

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein targeting [inference]

protein targeting to membrane

protein transport [inference]

intracellular protein transport

establishment of protein localization to membrane [inference]

protein targeting to membrane

protein localization to membrane [inference]

protein localization to plasma membrane

establishment of protein localization to membrane [inference]

protein targeting to membrane

protein localization to cell periphery [inference]

protein localization to plasma membrane

localization of cell

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

potassium ion transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

potassium ion transmembrane transport

cellular component organization or biogenesis [inference]

cellular component organization [inference]

organelle organization [inference]

cytoskeleton organization

cellular component assembly [inference]

cell junction assembly [inference]

synapse assembly [inference]

synaptic assembly at neuromuscular junction

protein-containing complex assembly

cell junction organization [inference]

cell junction assembly [inference]

synapse assembly [inference]

synaptic assembly at neuromuscular junction

synapse organization [inference]

synapse assembly [inference]

synaptic assembly at neuromuscular junction

neuromuscular junction development [inference]

synaptic assembly at neuromuscular junction

extracellular structure organization [inference]

extracellular matrix organization [inference]

basement membrane organization

protein-containing complex organization [inference]

protein-containing complex assembly

external encapsulating structure organization [inference]

extracellular matrix organization [inference]

basement membrane organization

membrane organization [inference]

plasma membrane organization

multicellular organismal process [inference]

system process [inference]

muscle system process [inference]

muscle contraction [inference]

striated muscle contraction

nervous system process [inference]

sensory perception [inference]

sensory perception of mechanical stimulus [inference]

sensory perception of sound

cognition [inference]

learning or memory [inference]

memory

neuromuscular process [inference]

neuromuscular process controlling posture

behavior [inference]

behavioral defense response [inference]

behavioral fear response

learning or memory [inference]

memory

locomotory behavior [inference]

walking behavior

determination of adult lifespan

multicellular organismal response to stress [inference]

fear response [inference]

behavioral fear response

multicellular organism growth

developmental process [inference]

anatomical structure morphogenesis [inference]

post-embryonic animal morphogenesis [inference]

post-embryonic appendage morphogenesis [inference]

post-embryonic limb morphogenesis [inference]

post-embryonic hindlimb morphogenesis

appendage morphogenesis [inference]

limb morphogenesis [inference]

post-embryonic limb morphogenesis [inference]

post-embryonic hindlimb morphogenesis

hindlimb morphogenesis [inference]

post-embryonic hindlimb morphogenesis

post-embryonic appendage morphogenesis [inference]

post-embryonic limb morphogenesis [inference]

post-embryonic hindlimb morphogenesis

anatomical structure formation involved in morphogenesis [inference]

retina layer formation

anatomical structure development [inference]

blood vessel development

tissue development [inference]

connective tissue development

regeneration [inference]

tissue regeneration [inference]

skeletal muscle tissue regeneration

cell development [inference]

muscle cell development [inference]

myotube cell development [inference]

skeletal muscle fiber development

cardiac cell development [inference]

cardiac muscle cell development

animal organ development [inference]

muscle organ development [inference]

skeletal muscle organ development

bone development

system development [inference]

vasculature development [inference]

retina vasculature development in camera-type eye

neural nucleus development [inference]

trigeminal sensory nucleus development [inference]

principal sensory nucleus of trigeminal nerve development

muscle structure development [inference]

muscle organ development [inference]

skeletal muscle organ development

cellular developmental process [inference]

cell differentiation [inference]

leukocyte differentiation [inference]

myeloid leukocyte differentiation [inference]

macrophage differentiation

glial cell differentiation [inference]

astrocyte differentiation

myeloid cell differentiation [inference]

myeloid leukocyte differentiation [inference]

macrophage differentiation

skeletal muscle cell differentiation [inference]

skeletal muscle fiber differentiation

muscle cell differentiation [inference]

striated muscle cell differentiation [inference]

myotube differentiation [inference]

skeletal muscle fiber differentiation

cell development [inference]

muscle cell development [inference]

myotube cell development [inference]

skeletal muscle fiber development

cardiac cell development [inference]

cardiac muscle cell development

growth [inference]

developmental growth [inference]

multicellular organism growth

tissue regeneration [inference]

skeletal muscle tissue regeneration

synaptic assembly at neuromuscular junction

homeostatic process [inference]

cellular homeostasis [inference]

muscle cell cellular homeostasis

response to stimulus [inference]

response to stress [inference]

defense response [inference]

behavioral defense response [inference]

behavioral fear response

inflammatory response [inference]

neuroinflammatory response [inference]

reactive gliosis

multicellular organismal response to stress [inference]

fear response [inference]

behavioral fear response

response to external stimulus [inference]

response to mechanical stimulus

response to abiotic stimulus [inference]

response to radiation [inference]

response to light stimulus

response to mechanical stimulus

localization [inference]

macromolecule localization [inference]

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein targeting [inference]

protein targeting to membrane

protein transport [inference]

intracellular protein transport

establishment of protein localization to membrane [inference]

protein targeting to membrane

protein localization to membrane [inference]

protein localization to plasma membrane

establishment of protein localization to membrane [inference]

protein targeting to membrane

protein localization to cell periphery [inference]

protein localization to plasma membrane

establishment of localization [inference]

transport [inference]

monoatomic ion transport [inference]

monoatomic cation transport [inference]

metal ion transport [inference]

potassium ion transport [inference]

potassium ion transmembrane transport

monoatomic cation transmembrane transport [inference]

potassium ion transmembrane transport

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

potassium ion transmembrane transport

fluid transport [inference]

water transport

intracellular transport [inference]

intracellular protein transport

transmembrane transport [inference]

monoatomic ion transmembrane transport [inference]

monoatomic cation transmembrane transport [inference]

potassium ion transmembrane transport

inorganic ion transmembrane transport [inference]

inorganic cation transmembrane transport [inference]

potassium ion transmembrane transport

organic substance transport [inference]

water transport

protein transport [inference]

intracellular protein transport

nitrogen compound transport [inference]

protein transport [inference]

intracellular protein transport

establishment of protein localization [inference]

protein targeting [inference]

protein targeting to membrane

protein transport [inference]

intracellular protein transport

establishment of protein localization to membrane [inference]

protein targeting to membrane

establishment of localization in cell [inference]

intracellular transport [inference]

intracellular protein transport

cellular localization [inference]

intracellular transport [inference]

intracellular protein transport

localization within membrane [inference]

protein localization to membrane [inference]

protein localization to plasma membrane

establishment of protein localization to membrane [inference]

protein targeting to membrane

cellular macromolecule localization [inference]

protein localization [inference]

establishment of protein localization [inference]

protein targeting [inference]

protein targeting to membrane

protein transport [inference]

intracellular protein transport

establishment of protein localization to membrane [inference]

protein targeting to membrane

protein localization to membrane [inference]

protein localization to plasma membrane

establishment of protein localization to membrane [inference]

protein targeting to membrane

protein localization to cell periphery [inference]

protein localization to plasma membrane

localization of cell

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

positive regulation of signaling [inference]

positive regulation of synaptic transmission [inference]

long-term synaptic potentiation

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

regulation of synaptic plasticity [inference]

long-term synaptic potentiation

positive regulation of synaptic transmission [inference]

long-term synaptic potentiation

signaling [inference]

cell-cell signaling [inference]

synaptic signaling [inference]

trans-synaptic signaling [inference]

anterograde trans-synaptic signaling [inference]

chemical synaptic transmission [inference]

neuromuscular synaptic transmission

positive regulation of biological process [inference]

positive regulation of signaling [inference]

positive regulation of synaptic transmission [inference]

long-term synaptic potentiation

positive regulation of cellular process [inference]

positive regulation of cell communication [inference]

positive regulation of synaptic transmission [inference]

long-term synaptic potentiation

regulation of cellular process [inference]

signal transduction [inference]

postsynaptic signal transduction [inference]

acetylcholine receptor signaling pathway

regulation of cell communication [inference]

positive regulation of cell communication [inference]

positive regulation of synaptic transmission [inference]

long-term synaptic potentiation

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

regulation of synaptic plasticity [inference]

long-term synaptic potentiation

positive regulation of synaptic transmission [inference]

long-term synaptic potentiation

positive regulation of cellular process [inference]

positive regulation of cell communication [inference]

positive regulation of synaptic transmission [inference]

long-term synaptic potentiation

regulation of biological quality [inference]

regulation of synaptic plasticity [inference]

long-term synaptic potentiation

Displaying **all 5** entries
GO Term	Evidence Code	PMID
Golgi apparatus	IBA IDA	25279699
protein-containing complex	IEA
plasma membrane	IEA
neuromuscular junction	IEA
Golgi membrane	TAS	9892679

GO Hierarchy

cellular component

protein-containing complex

cellular anatomical entity [inference]

membrane [inference]

plasma membrane

organelle membrane [inference]

bounding membrane of organelle [inference]

Golgi membrane

cell junction [inference]

synapse [inference]

neuromuscular junction

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

Golgi apparatus

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GO Term	Evidence Code	PMID
protein binding	IPI	19587235
xylosyltransferase activity	IBA IDA	22223806 25279697
manganese ion binding	IDA	25138275
acetylglucosaminyltransferase activity	TAS	9892679
glycosyltransferase activity	TAS	9892679

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

glycosyltransferase activity

UDP-glycosyltransferase activity [inference]

hexosyltransferase activity

pentosyltransferase activity [inference]

xylosyltransferase activity

UDP-xylosyltransferase activity

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

transition metal ion binding [inference]

manganese ion binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

galacturonosyltransferase

Functional Category

G: Carbohydrate transport and metabolism
M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying 1 entry
Gene Ontology
transferase activity

Displaying **all 2** entries
InterPro
Glycosyl transferase, family 8
Nucleotide-diphospho-sugar transferases

GlycoGene Database (GGDB)

GGDB ID

gg171

Gene Symbol

LARGE1

Orthologous Gene

Displaying **all 2** entries
Species	Protein	mRNA
Caenorhabditis elegans	NP_509833	NM_077432
Mus musculus	NP_034817	NM_010687

KEGG BRITE Database

Orthology

K09668

Name

glycosyltransferase-like protein LARGE [EC:2.4.2.- 2.4.1.-]

References

Disease

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000028	Cryptorchidism
HP:0000050	Hypoplastic male external genitalia
HP:0000054	Micropenis
HP:0000110	Renal dysplasia
HP:0000158	Macroglossia
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000204	Cleft upper lip

Displaying **all 6** entries
Disease ID	Disease Name
OMIM:613154	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
OMIM:608840	muscular dystrophy-dystroglycanopathy type B6
OMIM:236670	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ORPHA:588	muscle-eye-brain disease muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ORPHA:899	muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8 muscular dystrophy-dystroglycanopathy, type A
ORPHA:370968	congenital muscular dystrophy with intellectual disability muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 muscular dystrophy-dystroglycanopathy type B5 muscular dystrophy-dystroglycanopathy type B6

PubChem Disease

GHR Health Conditions

Walker-Warburg syndrome

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

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

Ortholog

Displaying entries **1 - 10** of 82 in total

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Species	Gene ID	OrthoDB	Alliance of Genome Resources	Orthologous MAtrix
Mus musculus	16795		MGI:1342270	MOUSE59870
Caenorhabditis elegans	187206		WB:WBGene00010716
Rattus norvegicus	361368		RGD:1308895	RATNO14840
Danio rerio	446213		ZFIN:ZDB-GENE-061204-1	DANRE35049
Pan troglodytes	470192	9598_0:005485		PANTR26426
Canis lupus familiaris	474521			CANLF01677
Bos taurus	506466			BOVIN29900
Macaca mulatta	717403			MACMU02184
Monodelphis domestica	100016258			MONDO33219
Equus caballus	100068935			HORSE26243

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

LM-GlycoRepo

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

OrthoDB (Group)

GlycoGene Database (GGDB)

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements