GlyCosmos Portal

Annotation

Keyword

3D-structure
Acetylation
Alternative splicing
Cardiomyopathy
Cytoplasm
Disease variant
Intellectual disability
Methyltransferase
Mitochondrion inner membrane
Mitochondrion nucleoid
Nucleus
One-carbon metabolism
Phosphoprotein
Pyridoxal phosphate
Reference proteome
Transferase
Transit peptide

Proteins

Displaying **all 6** entries
UniProt	Protein Name
V9HW06
B4DLV4
Q5BJF5
Q5HYG8
P34897	Glycine hydroxymethyltransferase Serine methylase
B4DJQ3

Annotation information from UniProt.

Gene Ontology (GO)

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

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GO Term	Evidence Code	PMID
protein K63-linked deubiquitination	IMP	24075985
regulation of aerobic respiration	IMP	29364879 29452640
one-carbon metabolic process	IDA IMP	11516159 29180469 29364879 29452640 33015733
glycine metabolic process	IDA IMP	25619277 29180469 33015733
tetrahydrofolate interconversion	IEA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine metabolic process

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

cellular modified amino acid metabolic process [inference]

folic acid-containing compound metabolic process [inference]

tetrahydrofolate metabolic process

tetrahydrofolate interconversion

protein metabolic process [inference]

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein removal [inference]

protein deubiquitination [inference]

protein K63-linked deubiquitination

pteridine-containing compound metabolic process [inference]

folic acid-containing compound metabolic process [inference]

tetrahydrofolate metabolic process

tetrahydrofolate interconversion

organonitrogen compound biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

biosynthetic process [inference]

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

organic substance biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

organonitrogen compound biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine metabolic process

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

cellular modified amino acid metabolic process [inference]

folic acid-containing compound metabolic process [inference]

tetrahydrofolate metabolic process

tetrahydrofolate interconversion

cellular aromatic compound metabolic process [inference]

pteridine-containing compound metabolic process [inference]

folic acid-containing compound metabolic process [inference]

tetrahydrofolate metabolic process

tetrahydrofolate interconversion

one-carbon metabolic process

tetrahydrofolate interconversion

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

heterocycle metabolic process [inference]

pteridine-containing compound metabolic process [inference]

folic acid-containing compound metabolic process [inference]

tetrahydrofolate metabolic process

tetrahydrofolate interconversion

primary metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine metabolic process

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

protein metabolic process [inference]

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein removal [inference]

protein deubiquitination [inference]

protein K63-linked deubiquitination

small molecule metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine metabolic process

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

one-carbon metabolic process

tetrahydrofolate interconversion

small molecule biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

organic substance metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine metabolic process

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

macromolecule metabolic process [inference]

protein metabolic process [inference]

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein removal [inference]

protein deubiquitination [inference]

protein K63-linked deubiquitination

macromolecule modification [inference]

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein removal [inference]

protein deubiquitination [inference]

protein K63-linked deubiquitination

organic cyclic compound metabolic process [inference]

pteridine-containing compound metabolic process [inference]

folic acid-containing compound metabolic process [inference]

tetrahydrofolate metabolic process

tetrahydrofolate interconversion

organonitrogen compound metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine metabolic process

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

cellular modified amino acid metabolic process [inference]

folic acid-containing compound metabolic process [inference]

tetrahydrofolate metabolic process

tetrahydrofolate interconversion

protein metabolic process [inference]

protein modification process [inference]

post-translational protein modification [inference]

protein modification by small protein conjugation or removal [inference]

protein modification by small protein removal [inference]

protein deubiquitination [inference]

protein K63-linked deubiquitination

pteridine-containing compound metabolic process [inference]

folic acid-containing compound metabolic process [inference]

tetrahydrofolate metabolic process

tetrahydrofolate interconversion

organonitrogen compound biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

organic substance biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

organonitrogen compound biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

cellular process [inference]

cellular metabolic process [inference]

organic acid metabolic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

oxoacid metabolic process [inference]

carboxylic acid metabolic process [inference]

amino acid metabolic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

alpha-amino acid metabolic process [inference]

serine family amino acid metabolic process [inference]

glycine metabolic process

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine metabolic process

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

cellular modified amino acid metabolic process [inference]

folic acid-containing compound metabolic process [inference]

tetrahydrofolate metabolic process

tetrahydrofolate interconversion

cellular aromatic compound metabolic process [inference]

pteridine-containing compound metabolic process [inference]

folic acid-containing compound metabolic process [inference]

tetrahydrofolate metabolic process

tetrahydrofolate interconversion

one-carbon metabolic process

tetrahydrofolate interconversion

cellular biosynthetic process [inference]

organic acid biosynthetic process [inference]

carboxylic acid biosynthetic process [inference]

amino acid biosynthetic process [inference]

alpha-amino acid biosynthetic process [inference]

serine family amino acid biosynthetic process [inference]

glycine biosynthetic process [inference]

glycine biosynthetic process from serine

L-serine biosynthetic process

heterocycle metabolic process [inference]

pteridine-containing compound metabolic process [inference]

folic acid-containing compound metabolic process [inference]

tetrahydrofolate metabolic process

tetrahydrofolate interconversion

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cellular component assembly [inference]

protein-containing complex assembly [inference]

protein complex oligomerization [inference]

protein homooligomerization [inference]

protein homotetramerization

protein tetramerization

protein homotetramerization

protein-containing complex organization [inference]

protein-containing complex assembly [inference]

protein complex oligomerization [inference]

protein homooligomerization [inference]

protein homotetramerization

protein tetramerization

protein homotetramerization

response to stimulus [inference]

response to chemical [inference]

response to organic substance [inference]

response to cytokine [inference]

response to type I interferon

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

post-transcriptional regulation of gene expression [inference]

regulation of translation [inference]

regulation of mitochondrial translation

regulation of mitochondrial gene expression [inference]

regulation of mitochondrial translation

regulation of cellular metabolic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

post-transcriptional regulation of gene expression [inference]

regulation of translation [inference]

regulation of mitochondrial translation

regulation of mitochondrial gene expression [inference]

regulation of mitochondrial translation

regulation of generation of precursor metabolites and energy [inference]

regulation of cellular respiration [inference]

regulation of aerobic respiration

regulation of oxidative phosphorylation

regulation of nitrogen compound metabolic process [inference]

regulation of amide metabolic process [inference]

regulation of translation [inference]

regulation of mitochondrial translation

regulation of protein metabolic process [inference]

regulation of translation [inference]

regulation of mitochondrial translation

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

post-transcriptional regulation of gene expression [inference]

regulation of translation [inference]

regulation of mitochondrial translation

regulation of mitochondrial gene expression [inference]

regulation of mitochondrial translation

regulation of protein metabolic process [inference]

regulation of translation [inference]

regulation of mitochondrial translation

regulation of primary metabolic process [inference]

regulation of protein metabolic process [inference]

regulation of translation [inference]

regulation of mitochondrial translation

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cell population proliferation

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

post-transcriptional regulation of gene expression [inference]

regulation of translation [inference]

regulation of mitochondrial translation

regulation of mitochondrial gene expression [inference]

regulation of mitochondrial translation

regulation of generation of precursor metabolites and energy [inference]

regulation of cellular respiration [inference]

regulation of aerobic respiration

regulation of oxidative phosphorylation

regulation of cell population proliferation [inference]

positive regulation of cell population proliferation

positive regulation of cellular process [inference]

positive regulation of cell population proliferation

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GO Term	Evidence Code	PMID
nucleus	IDA	24075985
mitochondrial inner membrane	IDA TAS	21876188
cytoplasm	IBA IDA	24075985
BRISC complex	IDA	24075985
microtubule cytoskeleton	IDA

GO Hierarchy

cellular component

protein-containing complex [inference]

nuclear protein-containing complex [inference]

BRISC complex

cellular anatomical entity [inference]

cytoplasm

nucleoid [inference]

mitochondrial nucleoid

membrane [inference]

organelle membrane [inference]

organelle inner membrane [inference]

mitochondrial inner membrane

mitochondrial membrane [inference]

mitochondrial inner membrane

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

mitochondrial matrix

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton [inference]

microtubule cytoskeleton

mitochondrial nucleoid

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton [inference]

microtubule cytoskeleton

mitochondrial nucleoid

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

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GO Term	Evidence Code	PMID
chromatin binding	IDA	18063578
glycine hydroxymethyltransferase activity	IBA IDA IMP	17482557 24075985 25619277 29180469 29364879 29452640 33015733 8505317
L-allo-threonine aldolase activity	IEA
amino acid binding	IEA
pyridoxal phosphate binding	IBA IDA	25619277

GO Hierarchy

molecular function

catalytic activity [inference]

transferase activity [inference]

transferase activity, transferring one-carbon groups [inference]

hydroxymethyl-, formyl- and related transferase activity [inference]

glycine hydroxymethyltransferase activity

lyase activity [inference]

carbon-carbon lyase activity [inference]

aldehyde-lyase activity [inference]

threonine aldolase activity [inference]

L-allo-threonine aldolase activity

binding [inference]

protein binding

identical protein binding

small molecule binding [inference]

vitamin binding [inference]

vitamin B6 binding [inference]

pyridoxal phosphate binding

organic acid binding [inference]

carboxylic acid binding [inference]

amino acid binding

heterocyclic compound binding [inference]

vitamin B6 binding [inference]

pyridoxal phosphate binding

ion binding [inference]

anion binding [inference]

pyridoxal phosphate binding

carboxylic acid binding [inference]

amino acid binding

protein-containing complex binding [inference]

chromatin binding

organic cyclic compound binding [inference]

vitamin B6 binding [inference]

pyridoxal phosphate binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000182199

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

Rhea

RHEA:15481

H₂O + (6R)-5,10-methylene-5,6,7,8-tetrahydrofolate + glycine

L-serine + (6S)-5,6,7,8-tetrahydrofolate

Enzyme

2.1.2.1

PMID

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0050156	idiopathic pulmonary fibrosis	DisGeNET
DOID:0060058	lymphoma	DisGeNET
DOID:0060060	non-Hodgkin lymphoma	DisGeNET
DOID:0060891	Parkinson's disease 19A	DisGeNET
DOID:0060895	Parkinson's disease 4	DisGeNET
DOID:0060896	Parkinson's disease 23	DisGeNET
DOID:0080199	colorectal carcinoma	DisGeNET
DOID:10283	prostate cancer	DisGeNET DisGeNET
DOID:10286	prostate carcinoma	DisGeNET DisGeNET
DOID:10534	stomach cancer	DisGeNET DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000007	Autosomal recessive inheritance
HP:0000193	Bifid uvula
HP:0000219	Thin upper lip vermilion
HP:0000252	Microcephaly
HP:0000322	Short philtrum
HP:0000343	Long philtrum
HP:0000486	Strabismus
HP:0000514	Slow saccadic eye movements
HP:0000718	Aggressive behavior
HP:0000733	Motor stereotypy

Displaying 1 entry
Disease ID	Disease Name
OMIM:619121	neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

PubChem Disease

MedGen Diseases

Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

OMIM Phenotypes

NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB

KEGG Diseases

Neurodevelopmental disorder with structural brain abnormalities

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

Ortholog

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Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Caenorhabditis elegans	175915	WB:WBGene00003214
Drosophila melanogaster	31524	FB:FBgn0029823
Ciona intestinalis	100176513		CIOIN01417
Callorhinchus milii	103189062		CALMI40581
Latimeria chalumnae	102355076		LATCH20215
Danio rerio	100144628	ZFIN:ZDB-GENE-071213-1
Astyanax mexicanus	103047201		ASTMX01040
Electrophorus electricus	113578000		ELEEL20725
Salmo trutta	115207343		SALTR35670
Gadus morhua	115557090		GADMO10863

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

PubChem Disease

International Collaboration

Acknowledgements