Disease table of LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES OMIM ID: PS309801

Gene-disease associations table

GeneAssociated with LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
HCCSClinVar, OMIM, HUMSAVARHGNC linkXp22.22PS309800, PS309801
COX7BClinVar, OMIMHGNC linkXq21.11PS309801
NDUFB11ClinVar, OMIMHGNC linkXp11.31PS309801

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
Xp2NDUFB11, HCCS
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
X3COX7B, NDUFB11, HCCS
Transcription Factors (TF) annotation from TRRUST
Interactions from BIOGRID - physical
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

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Oxidative phosphorylationhsa001905.692COX7B, NDUFB11
Metabolic pathwayshsa011002.492COX7B, NDUFB11
Parkinson's diseasehsa050125.592COX7B, NDUFB11
Huntington's diseasehsa050165.172COX7B, NDUFB11
Alzheimer's diseasehsa050105.342COX7B, NDUFB11
Non-alcoholic fatty liver disease (NAFLD)hsa049325.512COX7B, NDUFB11

NET-GE enrichment

Term New enriched termICP valueGenes
Oxidative phosphorylation (hsa00190) -5.690.022COX7B, NDUFB11
Energy metabolismNEW5.420.029COX7B, NDUFB11
Parkinson's disease (hsa05012) -5.590.023COX7B, NDUFB11
Huntington's disease (hsa05016) -5.170.04COX7B, NDUFB11
Alzheimer's disease (hsa05010) -5.340.032COX7B, NDUFB11
Non-alcoholic fatty liver disease (NAFLD) (hsa04932) -5.510.025COX7B, NDUFB11
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
MetabolismR-HSA-14307282.342COX7B, NDUFB11
The citric acid (TCA) cycle and respiratory electron transportR-HSA-14285175.712COX7B, NDUFB11
Respiratory electron transportR-HSA-6111056.442COX7B, NDUFB11
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.R-HSA-1632006.122COX7B, NDUFB11

NET-GE enrichment

Term New enriched termICP valueGenes
The citric acid (TCA) cycle and respiratory electron transport (R-HSA-1428517) -5.710.029COX7B, NDUFB11
Respiratory electron transport (R-HSA-611105) -6.440.006COX7B, NDUFB11
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. (R-HSA-163200) -6.120.002COX7B, NDUFB11
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.052HCCS, COX7B
binding (GO:0005488) 0.182HCCS, NDUFB11

NET-GE enrichment

Term New enriched termICP valueGenes
electron carrier activity (GO:0009055) NEW4.970.018COX7B, NDUFB11
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
single-organism metabolic process (GO:0044710) 1.633HCCS, COX7B, NDUFB11
oxidation-reduction process (GO:0055114) 2.913HCCS, COX7B, NDUFB11
metabolic process (GO:0008152) 0.583HCCS, COX7B, NDUFB11
single-organism process (GO:0044699) 0.483HCCS, COX7B, NDUFB11
developmental process (GO:0032502) 1.362HCCS, COX7B
cellular process (GO:0009987) 0.262COX7B, NDUFB11
cellular metabolic process (GO:0044237) 0.692COX7B, NDUFB11
electron transport chain (GO:0022900) 5.092COX7B, NDUFB11
single-organism cellular process (GO:0044763) 0.652COX7B, NDUFB11
respiratory electron transport chain (GO:0022904) 5.112COX7B, NDUFB11
generation of precursor metabolites and energy (GO:0006091) 4.072COX7B, NDUFB11

NET-GE enrichment

Term New enriched termICP valueGenes
generation of precursor metabolites and energy (GO:0006091) -4.070.043COX7B, NDUFB11
electron transport chain (GO:0022900) -5.090.031COX7B, NDUFB11
oxidation-reduction process (GO:0055114) -2.910.007HCCS, COX7B, NDUFB11
respiratory electron transport chain (GO:0022904) -5.110.004COX7B, NDUFB11
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
organelle membrane (GO:0031090) 1.973HCCS, COX7B, NDUFB11
cell part (GO:0044464) 0.113HCCS, COX7B, NDUFB11
membrane (GO:0016020) 0.683HCCS, COX7B, NDUFB11
organelle inner membrane (GO:0019866) 3.563HCCS, COX7B, NDUFB11
cytoplasmic part (GO:0044444) 0.823HCCS, COX7B, NDUFB11
mitochondrion (GO:0005739) 2.423HCCS, COX7B, NDUFB11
mitochondrial membrane (GO:0031966) 3.313HCCS, COX7B, NDUFB11
intracellular organelle part (GO:0044446) 0.813HCCS, COX7B, NDUFB11
mitochondrial inner membrane (GO:0005743) 3.653HCCS, COX7B, NDUFB11
intracellular organelle (GO:0043229) 0.513HCCS, COX7B, NDUFB11
mitochondrial part (GO:0044429) 2.923HCCS, COX7B, NDUFB11
intracellular part (GO:0044424) 0.283HCCS, COX7B, NDUFB11
membrane-bounded organelle (GO:0043227) 0.473HCCS, COX7B, NDUFB11
organelle (GO:0043226) 0.43HCCS, COX7B, NDUFB11
organelle part (GO:0044422) 0.793HCCS, COX7B, NDUFB11
intracellular membrane-bounded organelle (GO:0043231) 0.63HCCS, COX7B, NDUFB11
protein complex (GO:0043234) 1.512COX7B, NDUFB11
macromolecular complex (GO:0032991) 1.352COX7B, NDUFB11
integral component of membrane (GO:0016021) 1.142COX7B, NDUFB11
respiratory chain complex (GO:0098803) 5.472COX7B, NDUFB11
mitochondrial membrane part (GO:0044455) 4.542COX7B, NDUFB11
membrane protein complex (GO:0098796) 2.842COX7B, NDUFB11
membrane part (GO:0044425) 0.952COX7B, NDUFB11
respiratory chain (GO:0070469) 5.512COX7B, NDUFB11
intrinsic component of membrane (GO:0031224) 1.132COX7B, NDUFB11

NET-GE enrichment

Term New enriched termICP valueGenes
mitochondrial membrane part (GO:0044455) -4.540.016COX7B, NDUFB11
mitochondrial inner membrane (GO:0005743) -3.650.002HCCS, COX7B, NDUFB11
organelle inner membrane (GO:0019866) -3.560.0HCCS, COX7B, NDUFB11
mitochondrial part (GO:0044429) -2.920.034HCCS, COX7B, NDUFB11
mitochondrial membrane (GO:0031966) -3.310.0HCCS, COX7B, NDUFB11