Disease table of DEAFNESS, X-LINKED OMIM ID: PS304500

Gene-disease associations table

GeneAssociated with DEAFNESS, X-LINKED inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
SMPXClinVar, OMIMHGNC linkXp22.121PS304500
COL4A6ClinVar, OMIM, HUMSAVARHGNC linkXq22.31PS304500
AIFM1ClinVar, OMIMHGNC linkXq26.14PS609060, PS304500, PS609129, PS118220
PRPS1ClinVar, OMIM, HUMSAVARHGNC linkXq22.34PS118220, PS304500, 300661, PS309510
POU3F4ClinVar, OMIM, HUMSAVARHGNC linkXq21.11PS304500

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
By sub-band
Shared sub_bandNumber of genes associated with the diseaseGenes associated with the disease
Xq22.32PRPS1, COL4A6
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
Xq222PRPS1, COL4A6
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
Interactions from BIOGRID - physical
Gene1Gene2Direct InteractionNumber of shared interactorsShared genes in interaction

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: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Non-integrin membrane-ECM interactions (R-HSA-3000171) NEW7.10.014COL4A6, AIFM1
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) 1.053PRPS1, AIFM1, POU3F4
binding (GO:0005488) 0.183PRPS1, AIFM1, POU3F4
heterocyclic compound binding (GO:1901363) 1.063PRPS1, AIFM1, POU3F4
protein binding (GO:0005515) 0.462PRPS1, AIFM1
nucleotide binding (GO:0000166) 1.962PRPS1, AIFM1
small molecule binding (GO:0036094) 1.892PRPS1, AIFM1
catalytic activity (GO:0003824) 1.052PRPS1, AIFM1
nucleic acid binding (GO:0003676) 1.442AIFM1, POU3F4
DNA binding (GO:0003677) 1.922AIFM1, POU3F4
protein dimerization activity (GO:0046983) 2.722PRPS1, AIFM1
nucleoside phosphate binding (GO:1901265) 1.962PRPS1, AIFM1
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
organic substance metabolic process (GO:0071704) 0.634PRPS1, COL4A6, AIFM1, POU3F4
cellular process (GO:0009987) 0.264AIFM1, COL4A6, PRPS1, POU3F4
single-organism cellular process (GO:0044763) 0.654PRPS1, COL4A6, AIFM1, POU3F4
single-organism process (GO:0044699) 0.484PRPS1, COL4A6, AIFM1, POU3F4
metabolic process (GO:0008152) 0.584PRPS1, COL4A6, AIFM1, POU3F4
nucleobase-containing compound metabolic process (GO:0006139) 1.353PRPS1, AIFM1, POU3F4
single-organism metabolic process (GO:0044710) 1.633PRPS1, COL4A6, AIFM1
multicellular organismal process (GO:0032501) 1.453COL4A6, POU3F4, SMPX
primary metabolic process (GO:0044238) 0.693PRPS1, AIFM1, POU3F4
cellular aromatic compound metabolic process (GO:0006725) 1.33PRPS1, AIFM1, POU3F4
cellular metabolic process (GO:0044237) 0.693PRPS1, AIFM1, POU3F4
macromolecule metabolic process (GO:0043170) 0.833COL4A6, AIFM1, POU3F4
cellular nitrogen compound metabolic process (GO:0034641) 1.223PRPS1, AIFM1, POU3F4
nitrogen compound metabolic process (GO:0006807) 1.133AIFM1, PRPS1, POU3F4
organic cyclic compound metabolic process (GO:1901360) 1.263PRPS1, AIFM1, POU3F4
heterocycle metabolic process (GO:0046483) 1.313PRPS1, AIFM1, POU3F4
cellular response to endogenous stimulus (GO:0071495) 3.332COL4A6, AIFM1
anatomical structure development (GO:0048856) 1.582PRPS1, POU3F4
regulation of primary metabolic process (GO:0080090) 1.082AIFM1, POU3F4
regulation of metabolic process (GO:0019222) 1.022AIFM1, POU3F4
response to stimulus (GO:0050896) 1.222COL4A6, AIFM1
cell differentiation (GO:0030154) 2.142AIFM1, POU3F4
regulation of cellular metabolic process (GO:0031323) 1.072AIFM1, POU3F4
nucleic acid metabolic process (GO:0090304) 1.462AIFM1, POU3F4
cellular biosynthetic process (GO:0044249) 1.372PRPS1, POU3F4
cellular response to chemical stimulus (GO:0070887) 2.572COL4A6, AIFM1
regulation of cell death (GO:0010941) 2.432AIFM1, POU3F4
regulation of apoptotic process (GO:0042981) 2.52AIFM1, POU3F4
regulation of biological process (GO:0050789) 0.452AIFM1, POU3F4
cellular component organization or biogenesis (GO:0071840) 1.222COL4A6, AIFM1
response to endogenous stimulus (GO:0009719) 2.792COL4A6, AIFM1
organic substance biosynthetic process (GO:1901576) 1.342PRPS1, POU3F4
cellular response to stimulus (GO:0051716) 1.972COL4A6, AIFM1
cellular macromolecule metabolic process (GO:0044260) 0.932AIFM1, POU3F4
cellular developmental process (GO:0048869) 1.822AIFM1, POU3F4
cellular response to organic substance (GO:0071310) 2.782COL4A6, AIFM1
cellular component organization (GO:0016043) 1.242COL4A6, AIFM1
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432AIFM1, POU3F4
regulation of programmed cell death (GO:0043067) 2.492AIFM1, POU3F4
animal organ development (GO:0048513) 2.532PRPS1, POU3F4
biological regulation (GO:0065007) 0.392AIFM1, POU3F4
heterocycle biosynthetic process (GO:0018130) 1.72PRPS1, POU3F4
developmental process (GO:0032502) 1.362PRPS1, POU3F4
neuron differentiation (GO:0030182) 4.172AIFM1, POU3F4
regulation of macromolecule metabolic process (GO:0060255) 1.082AIFM1, POU3F4
regulation of cellular process (GO:0050794) 0.52AIFM1, POU3F4
single-organism developmental process (GO:0044767) 1.492PRPS1, POU3F4
biosynthetic process (GO:0009058) 1.322PRPS1, POU3F4
regulation of nitrogen compound metabolic process (GO:0051171) 1.362AIFM1, POU3F4
nucleobase-containing compound biosynthetic process (GO:0034654) 1.722PRPS1, POU3F4
response to chemical (GO:0042221) 1.982COL4A6, AIFM1
catabolic process (GO:0009056) 2.382COL4A6, AIFM1
response to organic substance (GO:0010033) 2.22COL4A6, AIFM1
system process (GO:0003008) 2.32POU3F4, SMPX
response to oxygen-containing compound (GO:1901700) 2.572COL4A6, AIFM1
cellular response to oxygen-containing compound (GO:1901701) 3.222COL4A6, AIFM1
cellular nitrogen compound biosynthetic process (GO:0044271) 1.592PRPS1, POU3F4
response to organonitrogen compound (GO:0010243) 3.22COL4A6, AIFM1
cellular response to nitrogen compound (GO:1901699) 3.792COL4A6, AIFM1
organic cyclic compound biosynthetic process (GO:1901362) 1.662PRPS1, POU3F4
aromatic compound biosynthetic process (GO:0019438) 1.72PRPS1, POU3F4
response to nitrogen compound (GO:1901698) 3.122COL4A6, AIFM1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.285PRPS1, COL4A6, AIFM1, POU3F4, SMPX
cell part (GO:0044464) 0.115PRPS1, COL4A6, AIFM1, POU3F4, SMPX
cytoplasmic part (GO:0044444) 0.824PRPS1, COL4A6, AIFM1, SMPX
intracellular membrane-bounded organelle (GO:0043231) 0.63AIFM1, POU3F4, SMPX
nucleus (GO:0005634) 1.073AIFM1, POU3F4, SMPX
intracellular organelle (GO:0043229) 0.513AIFM1, POU3F4, SMPX
membrane-bounded organelle (GO:0043227) 0.473AIFM1, POU3F4, SMPX
organelle (GO:0043226) 0.43AIFM1, POU3F4, SMPX
organelle part (GO:0044422) 0.793COL4A6, AIFM1, SMPX
cytoplasm (GO:0005737) 1.012AIFM1, SMPX
protein complex (GO:0043234) 1.512COL4A6, PRPS1
macromolecular complex (GO:0032991) 1.352COL4A6, PRPS1
organelle lumen (GO:0043233) 3.052COL4A6, AIFM1
integral component of membrane (GO:0016021) 1.142AIFM1, SMPX
membrane (GO:0016020) 0.682AIFM1, SMPX
membrane-enclosed lumen (GO:0031974) 3.052COL4A6, AIFM1
intracellular organelle part (GO:0044446) 0.812COL4A6, AIFM1
intracellular organelle lumen (GO:0070013) 3.052COL4A6, AIFM1
membrane part (GO:0044425) 0.952AIFM1, SMPX
cytosol (GO:0005829) 1.682PRPS1, AIFM1
intrinsic component of membrane (GO:0031224) 1.132AIFM1, SMPX