Disease table of MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME OMIM ID: PS605711

Gene-disease associations table

GeneAssociated with MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
BOLA3ClinVar, OMIMHGNC link2p13.11PS605711
IBA57ClinVar, OMIM, HUMSAVARHGNC link1q42.132PS605711, PS303350
NFU1ClinVar, OMIM, HUMSAVARHGNC link2p13.31PS605711
ISCA2ClinVar, OMIM, HUMSAVARHGNC link14q24.31PS605711

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
2p132BOLA3, NFU1
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
2p12BOLA3, NFU1
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
2p2BOLA3, NFU1
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
22BOLA3, NFU1
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
IBA57NFU1No-1ISCA1
IBA57ISCA2Yesbinding0

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 (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183ISCA2, NFU1, IBA57
cation binding (GO:0043169) 1.42NFU1, ISCA2
4 iron, 4 sulfur cluster binding (GO:0051539) 6.02NFU1, ISCA2
transition metal ion binding (GO:0046914) 2.482NFU1, ISCA2
iron-sulfur cluster binding (GO:0051536) 5.552NFU1, ISCA2
ion binding (GO:0043167) 1.362NFU1, ISCA2
protein binding (GO:0005515) 0.462NFU1, ISCA2
iron ion binding (GO:0005506) 4.652NFU1, ISCA2
metal ion binding (GO:0046872) 1.412NFU1, ISCA2
metal cluster binding (GO:0051540) 5.552NFU1, ISCA2

NET-GE enrichment

Term New enriched termICP valueGenes
iron-sulfur cluster binding (GO:0051536) -5.550.002NFU1, ISCA2
metal cluster binding (GO:0051540) -5.550.002NFU1, ISCA2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular component assembly (GO:0022607) 2.143ISCA2, NFU1, IBA57
cellular process (GO:0009987) 0.263ISCA2, NFU1, IBA57
cofactor biosynthetic process (GO:0051188) 4.623ISCA2, NFU1, IBA57
cellular component organization (GO:0016043) 1.243ISCA2, NFU1, IBA57
iron-sulfur cluster assembly (GO:0016226) 6.93ISCA2, NFU1, IBA57
cellular biosynthetic process (GO:0044249) 1.373ISCA2, NFU1, IBA57
biosynthetic process (GO:0009058) 1.323ISCA2, NFU1, IBA57
cofactor metabolic process (GO:0051186) 3.913ISCA2, NFU1, IBA57
sulfur compound metabolic process (GO:0006790) 3.873ISCA2, NFU1, IBA57
cellular metabolic process (GO:0044237) 0.693ISCA2, NFU1, IBA57
metabolic process (GO:0008152) 0.583ISCA2, NFU1, IBA57
metallo-sulfur cluster assembly (GO:0031163) 6.93ISCA2, NFU1, IBA57
cellular component organization or biogenesis (GO:0071840) 1.223ISCA2, NFU1, IBA57
organic substance metabolic process (GO:0071704) 0.632ISCA2, IBA57

NET-GE enrichment

Term New enriched termICP valueGenes
metallo-sulfur cluster assembly (GO:0031163) -6.90.0NFU1, ISCA2
iron-sulfur cluster assembly (GO:0016226) -6.90.0NFU1, ISCA2
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
intracellular membrane-bounded organelle (GO:0043231) 0.63ISCA2, NFU1, IBA57
cell part (GO:0044464) 0.113ISCA2, NFU1, IBA57
intracellular organelle (GO:0043229) 0.513ISCA2, NFU1, IBA57
mitochondrion (GO:0005739) 2.423ISCA2, NFU1, IBA57
intracellular organelle part (GO:0044446) 0.813ISCA2, NFU1, IBA57
cytoplasmic part (GO:0044444) 0.823ISCA2, NFU1, IBA57
intracellular part (GO:0044424) 0.283ISCA2, NFU1, IBA57
membrane-bounded organelle (GO:0043227) 0.473ISCA2, NFU1, IBA57
organelle (GO:0043226) 0.43ISCA2, NFU1, IBA57
organelle part (GO:0044422) 0.793ISCA2, NFU1, IBA57
mitochondrial matrix (GO:0005759) 4.032ISCA2, IBA57
intracellular organelle lumen (GO:0070013) 3.052ISCA2, IBA57
mitochondrial part (GO:0044429) 2.922ISCA2, IBA57
membrane-enclosed lumen (GO:0031974) 3.052ISCA2, IBA57
organelle lumen (GO:0043233) 3.052ISCA2, IBA57

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrion (GO:0005739) -2.420.013ISCA2, NFU1, IBA57