Disease table of MYOPATHY, LACTIC ACIDOSIS, AND SIDERBLASTIC ANEMIA OMIM ID: PS600462

Gene-disease associations table

GeneAssociated with MYOPATHY, LACTIC ACIDOSIS, AND SIDERBLASTIC ANEMIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
PUS1ClinVar, OMIM, HUMSAVARHGNC link12q24.331PS600462
YARS2ClinVar, OMIM, HUMSAVARHGNC link12p11.211PS600462

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
122YARS2, PUS1
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction
PUS1YARS2No1ICT1

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

Interactions from BIOGRID - genetic
Interactions from STRING
Interactions from CORUM
Interactions from CENSUS
Interactions from PDB
Interactions from manually curated literature
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
organic cyclic compound binding (GO:0097159) 1.052PUS1, YARS2
poly(A) RNA binding (GO:0044822) 2.692PUS1, YARS2
catalytic activity (GO:0003824) 1.052PUS1, YARS2
binding (GO:0005488) 0.182PUS1, YARS2
nucleic acid binding (GO:0003676) 1.442PUS1, YARS2
heterocyclic compound binding (GO:1901363) 1.062PUS1, YARS2
RNA binding (GO:0003723) 2.362PUS1, YARS2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
RNA metabolic process (GO:0016070) 1.592PUS1, YARS2
nucleobase-containing compound metabolic process (GO:0006139) 1.352PUS1, YARS2
tRNA metabolic process (GO:0006399) 4.522PUS1, YARS2
cellular macromolecule metabolic process (GO:0044260) 0.932PUS1, YARS2
primary metabolic process (GO:0044238) 0.692PUS1, YARS2
cellular process (GO:0009987) 0.262PUS1, YARS2
cellular aromatic compound metabolic process (GO:0006725) 1.32PUS1, YARS2
cellular metabolic process (GO:0044237) 0.692PUS1, YARS2
macromolecule metabolic process (GO:0043170) 0.832PUS1, YARS2
nucleic acid metabolic process (GO:0090304) 1.462PUS1, YARS2
organic substance metabolic process (GO:0071704) 0.632PUS1, YARS2
cellular nitrogen compound metabolic process (GO:0034641) 1.222PUS1, YARS2
nitrogen compound metabolic process (GO:0006807) 1.132PUS1, YARS2
metabolic process (GO:0008152) 0.582PUS1, YARS2
ncRNA metabolic process (GO:0034660) 3.442PUS1, YARS2
mitochondrial RNA metabolic process (GO:0000959) 6.362PUS1, YARS2
organic cyclic compound metabolic process (GO:1901360) 1.262PUS1, YARS2
heterocycle metabolic process (GO:0046483) 1.312PUS1, YARS2

NET-GE enrichment

Term New enriched termICP valueGenes
tRNA metabolic process (GO:0006399) -4.520.011PUS1, YARS2
ncRNA metabolic process (GO:0034660) -3.440.031PUS1, YARS2
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.62PUS1, YARS2
organelle lumen (GO:0043233) 3.052PUS1, YARS2
membrane-enclosed lumen (GO:0031974) 3.052PUS1, YARS2
cell part (GO:0044464) 0.112PUS1, YARS2
intracellular organelle (GO:0043229) 0.512PUS1, YARS2
mitochondrion (GO:0005739) 2.422PUS1, YARS2
intracellular organelle part (GO:0044446) 0.812PUS1, YARS2
intracellular organelle lumen (GO:0070013) 3.052PUS1, YARS2
cytoplasmic part (GO:0044444) 0.822PUS1, YARS2
mitochondrial part (GO:0044429) 2.922PUS1, YARS2
mitochondrial matrix (GO:0005759) 4.032PUS1, YARS2
intracellular part (GO:0044424) 0.282PUS1, YARS2
membrane-bounded organelle (GO:0043227) 0.472PUS1, YARS2
organelle (GO:0043226) 0.42PUS1, YARS2
organelle part (GO:0044422) 0.792PUS1, YARS2