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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 **6 - 10** of 54 in total

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GO Term	Evidence Code	PMID
protein localization to plasma membrane	IEA
acetylcholine receptor signaling pathway	IEA
reactive gliosis	IEA
plasma membrane organization	IEA
protein O-linked glycosylation	TAS

GO Hierarchy

biological process

reproduction [inference]

multicellular organism reproduction

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

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
neuromuscular junction	IEA
plasma membrane	IEA
Golgi apparatus	IBA IDA	25279699
protein-containing complex	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

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

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GO Term	Evidence Code	PMID
glycosyltransferase activity	TAS	9892679
hexosyltransferase activity	IDA	32975514
UDP-xylosyltransferase activity	TAS
manganese ion binding	IDA	25138275
acetylglucosaminyltransferase 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]

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.

GlycoGene Database (GGDB)

GGDB ID

gg171

Gene Symbol

LARGE1

Reactions

Displaying **all 4** entries
Donor	Acceptor	Reference
UDP-Xyl	G42293RF	22223806
UDP-GlcA	G16579HJ	22223806
UDP-GlcA	G42293RF	22223806
UDP-Xyl	G16579HJ	22223806

Displaying **all 4** entries
Donor	Acceptor	Reference
UDP-Xyl	G16579HJ	22223806
UDP-GlcA	G42293RF	22223806
UDP-GlcA	G16579HJ	22223806
UDP-Xyl	G42293RF	22223806

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

Disease Ontology

Displaying entries **1 - 10** of **172** in total

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DO ID	Disease Name	Source
DOID:0050453	lissencephaly	DisGeNET DisGeNET
DOID:0050557	congenital muscular dystrophy	DisGeNET DisGeNET
DOID:0050559	Fukuyama congenital muscular dystrophy	DisGeNET
DOID:0050560	Walker-Warburg syndrome	DisGeNET
DOID:0050572	cone-rod dystrophy	DisGeNET
DOID:0050588	muscular dystrophy-dystroglycanopathy type B1	DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET DisGeNET Alliance of Genome Resources
DOID:0050777	Joubert syndrome	DisGeNET DisGeNET
DOID:0060249	scoliosis	DisGeNET
DOID:0060250	idiopathic scoliosis	DisGeNET
DOID:0060255	rippling muscle disease 2	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of **151** in total

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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
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
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

PubChem Disease

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Walker-Warburg syndrome

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OMIM Phenotypes

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

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	187206	WB:WBGene00010716
Callorhinchus milii	103181844		CALMI23854
Latimeria chalumnae	102357936		LATCH18608
Danio rerio	446213	ZFIN:ZDB-GENE-061204-1	DANRE35049
Astyanax mexicanus	103045143		ASTMX14437
Electrophorus electricus	113573532		ELEEL13090
Electrophorus electricus	113573576		ELEEL13088
Oryzias latipes	101164859		ORYLA10880
Oreochromis niloticus	100696542		ORENI17896
Xenopus laevis	108704366	Xenbase:XB-GENE-17343600

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GlycoGene Database (GGDB)

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PubChem Disease

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Acknowledgements