Disease table of PERRAULT SYNDROME OMIM ID: PS233400

Gene-disease associations table

GeneAssociated with PERRAULT SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CLPPClinVar, OMIM, HUMSAVARHGNC link19p13.31PS233400
HSD17B4ClinVar, OMIM, HUMSAVARHGNC link5q23.12261515, PS233400
C10orf2ClinVar, OMIM, HUMSAVARHGNC link10q24.314PS157640, 607459, PS603041, PS233400
LARS2ClinVar, OMIM, HUMSAVARHGNC link3p21.311PS233400
HARS2ClinVar, OMIM, HUMSAVARHGNC link5q31.31PS233400

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
5q2HSD17B4, HARS2
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
52HSD17B4, HARS2
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
CLPPLARS2No1FBXW11
HSD17B4LARS2No1NTRK1
C10orf2HARS2No1ICT1

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
HSD17B4HARS2No-2UBC, JUN

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Aminoacyl-tRNA biosynthesishsa009707.312HARS2, LARS2

NET-GE enrichment

Term New enriched termICP valueGenes
Aminoacyl-tRNA biosynthesis (hsa00970) -7.310.001HARS2, LARS2
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Gene ExpressionR-HSA-741602.722HARS2, LARS2
Mitochondrial tRNA aminoacylationR-HSA-3797268.592HARS2, LARS2
tRNA AminoacylationR-HSA-3797247.592HARS2, LARS2

NET-GE enrichment

Term New enriched termICP valueGenes
Mitochondrial tRNA aminoacylation (R-HSA-379726) -8.590.002HARS2, LARS2
tRNA Aminoacylation (R-HSA-379724) -7.590.004HARS2, LARS2
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.055HARS2, CLPP, HSD17B4, LARS2, C10orf2
binding (GO:0005488) 0.185HARS2, CLPP, HSD17B4, LARS2, C10orf2
hydrolase activity (GO:0016787) 1.93CLPP, LARS2, C10orf2
purine ribonucleoside binding (GO:0032550) 2.223HARS2, C10orf2, LARS2
adenyl nucleotide binding (GO:0030554) 2.43HARS2, C10orf2, LARS2
purine ribonucleoside triphosphate binding (GO:0035639) 2.223HARS2, C10orf2, LARS2
organic cyclic compound binding (GO:0097159) 1.053HARS2, C10orf2, LARS2
ribonucleoside binding (GO:0032549) 2.223HARS2, C10orf2, LARS2
ribonucleotide binding (GO:0032553) 2.193HARS2, C10orf2, LARS2
nucleotide binding (GO:0000166) 1.963HARS2, C10orf2, LARS2
small molecule binding (GO:0036094) 1.893HARS2, C10orf2, LARS2
carbohydrate derivative binding (GO:0097367) 2.033HARS2, C10orf2, LARS2
identical protein binding (GO:0042802) 2.633CLPP, HARS2, HSD17B4
adenyl ribonucleotide binding (GO:0032559) 2.413HARS2, C10orf2, LARS2
nucleoside phosphate binding (GO:1901265) 1.963HARS2, C10orf2, LARS2
protein binding (GO:0005515) 0.463CLPP, HARS2, HSD17B4
ATP binding (GO:0005524) 2.433HARS2, C10orf2, LARS2
purine ribonucleotide binding (GO:0032555) 2.23HARS2, C10orf2, LARS2
purine nucleotide binding (GO:0017076) 2.193HARS2, C10orf2, LARS2
heterocyclic compound binding (GO:1901363) 1.063HARS2, C10orf2, LARS2
purine nucleoside binding (GO:0001883) 2.223HARS2, C10orf2, LARS2
nucleoside binding (GO:0001882) 2.213HARS2, C10orf2, LARS2
aminoacyl-tRNA ligase activity (GO:0004812) 5.932HARS2, LARS2
nucleic acid binding (GO:0003676) 1.442C10orf2, HARS2
protein dimerization activity (GO:0046983) 2.722HSD17B4, HARS2
ligase activity (GO:0016874) 3.722HARS2, LARS2
ligase activity, forming carbon-oxygen bonds (GO:0016875) 5.932HARS2, LARS2
ligase activity, forming aminoacyl-tRNA and related compounds (GO:0016876) 5.932HARS2, LARS2
protein homodimerization activity (GO:0042803) 3.162HSD17B4, HARS2

NET-GE enrichment

Term New enriched termICP valueGenes
aminoacyl-tRNA ligase activity (GO:0004812) -5.930.013HARS2, LARS2
ligase activity, forming carbon-oxygen bonds (GO:0016875) -5.930.006HARS2, LARS2
ligase activity, forming aminoacyl-tRNA and related compounds (GO:0016876) -5.930.006HARS2, LARS2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organic substance metabolic process (GO:0071704) 0.635HARS2, CLPP, HSD17B4, LARS2, C10orf2
cellular process (GO:0009987) 0.265HARS2, CLPP, LARS2, HSD17B4, C10orf2
metabolic process (GO:0008152) 0.585HARS2, CLPP, LARS2, HSD17B4, C10orf2
primary metabolic process (GO:0044238) 0.695HARS2, CLPP, HSD17B4, LARS2, C10orf2
organic substance biosynthetic process (GO:1901576) 1.344HARS2, HSD17B4, LARS2, C10orf2
cellular metabolic process (GO:0044237) 0.694HARS2, C10orf2, LARS2, HSD17B4
macromolecule metabolic process (GO:0043170) 0.834HARS2, CLPP, LARS2, C10orf2
cellular biosynthetic process (GO:0044249) 1.374HARS2, HSD17B4, LARS2, C10orf2
biosynthetic process (GO:0009058) 1.324HARS2, HSD17B4, LARS2, C10orf2
organic cyclic compound metabolic process (GO:1901360) 1.264HARS2, HSD17B4, LARS2, C10orf2
nucleic acid metabolic process (GO:0090304) 1.463HARS2, C10orf2, LARS2
nucleobase-containing compound metabolic process (GO:0006139) 1.353HARS2, C10orf2, LARS2
single-organism metabolic process (GO:0044710) 1.633HARS2, HSD17B4, LARS2
organic acid metabolic process (GO:0006082) 3.013HARS2, HSD17B4, LARS2
cellular macromolecule metabolic process (GO:0044260) 0.933HARS2, C10orf2, LARS2
protein metabolic process (GO:0019538) 1.453HARS2, CLPP, LARS2
single-organism process (GO:0044699) 0.483HARS2, HSD17B4, LARS2
cellular aromatic compound metabolic process (GO:0006725) 1.33HARS2, C10orf2, LARS2
cellular component organization (GO:0016043) 1.243CLPP, HARS2, C10orf2
carboxylic acid metabolic process (GO:0019752) 3.123HARS2, HSD17B4, LARS2
cellular nitrogen compound metabolic process (GO:0034641) 1.223HARS2, C10orf2, LARS2
nitrogen compound metabolic process (GO:0006807) 1.133HARS2, C10orf2, LARS2
single-organism cellular process (GO:0044763) 0.653HARS2, HSD17B4, LARS2
small molecule metabolic process (GO:0044281) 2.383HARS2, HSD17B4, LARS2
cellular macromolecule biosynthetic process (GO:0034645) 1.663HARS2, C10orf2, LARS2
oxoacid metabolic process (GO:0043436) 3.123HARS2, HSD17B4, LARS2
macromolecule biosynthetic process (GO:0009059) 1.613HARS2, C10orf2, LARS2
cellular component organization or biogenesis (GO:0071840) 1.223CLPP, HARS2, C10orf2
heterocycle metabolic process (GO:0046483) 1.313HARS2, C10orf2, LARS2
RNA metabolic process (GO:0016070) 1.592HARS2, LARS2
amide biosynthetic process (GO:0043604) 3.62HARS2, LARS2
organonitrogen compound metabolic process (GO:1901564) 2.322HARS2, LARS2
cellular amide metabolic process (GO:0043603) 3.232HARS2, LARS2
organonitrogen compound biosynthetic process (GO:1901566) 2.852HARS2, LARS2
cellular protein metabolic process (GO:0044267) 1.632HARS2, LARS2
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592HARS2, LARS2
cellular amino acid metabolic process (GO:0006520) 4.222HARS2, LARS2
peptide biosynthetic process (GO:0043043) 3.732HARS2, LARS2
tRNA metabolic process (GO:0006399) 4.522HARS2, LARS2
amino acid activation (GO:0043038) 5.762HARS2, LARS2
tRNA aminoacylation (GO:0043039) 5.762HARS2, LARS2
biological regulation (GO:0065007) 0.392HSD17B4, LARS2
organelle organization (GO:0006996) 2.022C10orf2, HARS2
tRNA aminoacylation for protein translation (GO:0006418) 5.822HARS2, LARS2
ncRNA metabolic process (GO:0034660) 3.442HARS2, LARS2
peptide metabolic process (GO:0006518) 3.442HARS2, LARS2
regulation of biological quality (GO:0065008) 1.682HSD17B4, LARS2
translation (GO:0006412) 3.792HARS2, LARS2

NET-GE enrichment

Term New enriched termICP valueGenes
amino acid activation (GO:0043038) -5.760.017HARS2, LARS2
tRNA aminoacylation (GO:0043039) -5.760.017HARS2, LARS2
tRNA aminoacylation for protein translation (GO:0006418) -5.820.044HARS2, LARS2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.64HARS2, CLPP, LARS2, HSD17B4
organelle lumen (GO:0043233) 3.054HARS2, CLPP, LARS2, HSD17B4
cell part (GO:0044464) 0.114HARS2, CLPP, LARS2, HSD17B4
cytoplasmic part (GO:0044444) 0.824HARS2, CLPP, LARS2, HSD17B4
mitochondrion (GO:0005739) 2.424HARS2, CLPP, LARS2, HSD17B4
intracellular organelle part (GO:0044446) 0.814HARS2, CLPP, LARS2, HSD17B4
intracellular organelle lumen (GO:0070013) 3.054HARS2, CLPP, LARS2, HSD17B4
intracellular organelle (GO:0043229) 0.514HARS2, CLPP, LARS2, HSD17B4
membrane-enclosed lumen (GO:0031974) 3.054HARS2, CLPP, LARS2, HSD17B4
intracellular part (GO:0044424) 0.284HARS2, CLPP, LARS2, HSD17B4
membrane-bounded organelle (GO:0043227) 0.474HARS2, CLPP, LARS2, HSD17B4
organelle (GO:0043226) 0.44HARS2, CLPP, LARS2, HSD17B4
organelle part (GO:0044422) 0.794HARS2, CLPP, LARS2, HSD17B4
mitochondrial matrix (GO:0005759) 4.033HARS2, CLPP, LARS2
mitochondrial part (GO:0044429) 2.923HARS2, CLPP, LARS2

NET-GE enrichment

Term New enriched termICP valueGenes
organelle lumen (GO:0043233) -3.050.001HARS2, CLPP, HSD17B4, LARS2, C10orf2
membrane-enclosed lumen (GO:0031974) -3.050.001HARS2, CLPP, LARS2, HSD17B4, C10orf2
intracellular organelle lumen (GO:0070013) -3.050.001HARS2, CLPP, LARS2, HSD17B4, C10orf2
mitochondrial part (GO:0044429) -2.920.001HARS2, CLPP, LARS2, C10orf2
mitochondrial matrix (GO:0005759) -4.030.001HARS2, CLPP, LARS2, C10orf2