Disease table of ZIMMERMANN-LABAND SYNDROME OMIM ID: PS135500

Gene-disease associations table

GeneAssociated with ZIMMERMANN-LABAND SYNDROME inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
ATP6V1B2ClinVar, OMIM, HUMSAVARHGNC link8p21.31PS135500
KCNH1ClinVar, OMIM, HUMSAVARHGNC link1q32.22PS135500, 611816

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
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 (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
substrate-specific transmembrane transporter activity (GO:0022891) 2.92ATP6V1B2, KCNH1
inorganic cation transmembrane transporter activity (GO:0022890) 3.492ATP6V1B2, KCNH1
substrate-specific transporter activity (GO:0022892) 2.722ATP6V1B2, KCNH1
monovalent inorganic cation transmembrane transporter activity (GO:0015077) 3.872ATP6V1B2, KCNH1
transporter activity (GO:0005215) 2.572ATP6V1B2, KCNH1
cation transmembrane transporter activity (GO:0008324) 3.322ATP6V1B2, KCNH1
ion transmembrane transporter activity (GO:0015075) 3.042ATP6V1B2, KCNH1
nucleotide binding (GO:0000166) 1.962ATP6V1B2, KCNH1
small molecule binding (GO:0036094) 1.892ATP6V1B2, KCNH1
catalytic activity (GO:0003824) 1.052ATP6V1B2, KCNH1
transmembrane transporter activity (GO:0022857) 2.822ATP6V1B2, KCNH1
binding (GO:0005488) 0.182ATP6V1B2, KCNH1
protein binding (GO:0005515) 0.462ATP6V1B2, KCNH1
organic cyclic compound binding (GO:0097159) 1.052ATP6V1B2, KCNH1
heterocyclic compound binding (GO:1901363) 1.062ATP6V1B2, KCNH1
nucleoside phosphate binding (GO:1901265) 1.962ATP6V1B2, KCNH1

NET-GE enrichment

Term New enriched termICP valueGenes
monovalent inorganic cation transmembrane transporter activity (GO:0015077) -3.870.031ATP6V1B2, KCNH1
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
signal transduction (GO:0007165) 1.282ATP6V1B2, KCNH1
regulation of biological process (GO:0050789) 0.452ATP6V1B2, KCNH1
single-organism process (GO:0044699) 0.482ATP6V1B2, KCNH1
single-organism metabolic process (GO:0044710) 1.632ATP6V1B2, KCNH1
localization (GO:0051179) 1.42ATP6V1B2, KCNH1
organic substance metabolic process (GO:0071704) 0.632ATP6V1B2, KCNH1
biological regulation (GO:0065007) 0.392ATP6V1B2, KCNH1
inorganic cation transmembrane transport (GO:0098662) 3.552ATP6V1B2, KCNH1
inorganic ion transmembrane transport (GO:0098660) 3.382ATP6V1B2, KCNH1
regulation of biological quality (GO:0065008) 1.682ATP6V1B2, KCNH1
monovalent inorganic cation transport (GO:0015672) 3.742ATP6V1B2, KCNH1
cellular process (GO:0009987) 0.262ATP6V1B2, KCNH1
cation transport (GO:0006812) 3.112ATP6V1B2, KCNH1
ion transport (GO:0006811) 2.662ATP6V1B2, KCNH1
transport (GO:0006810) 1.512ATP6V1B2, KCNH1
regulation of cellular process (GO:0050794) 0.52ATP6V1B2, KCNH1
ion transmembrane transport (GO:0034220) 3.082ATP6V1B2, KCNH1
single-organism transport (GO:0044765) 2.182ATP6V1B2, KCNH1
metal ion transport (GO:0030001) 3.362ATP6V1B2, KCNH1
metabolic process (GO:0008152) 0.582ATP6V1B2, KCNH1
establishment of localization (GO:0051234) 1.482ATP6V1B2, KCNH1
transmembrane transport (GO:0055085) 2.722ATP6V1B2, KCNH1
single-organism localization (GO:1902578) 2.092ATP6V1B2, KCNH1
primary metabolic process (GO:0044238) 0.692ATP6V1B2, KCNH1
cellular metabolic process (GO:0044237) 0.692ATP6V1B2, KCNH1
phosphate-containing compound metabolic process (GO:0006796) 2.162ATP6V1B2, KCNH1
phosphorus metabolic process (GO:0006793) 2.152ATP6V1B2, KCNH1
single-organism cellular process (GO:0044763) 0.652ATP6V1B2, KCNH1
cation transmembrane transport (GO:0098655) 3.432ATP6V1B2, KCNH1
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular organelle (GO:0043229) 0.512ATP6V1B2, KCNH1
membrane-bounded organelle (GO:0043227) 0.472ATP6V1B2, KCNH1
organelle (GO:0043226) 0.42ATP6V1B2, KCNH1
intrinsic component of membrane (GO:0031224) 1.132ATP6V1B2, KCNH1
organelle membrane (GO:0031090) 1.972ATP6V1B2, KCNH1
whole membrane (GO:0098805) 2.852ATP6V1B2, KCNH1
membrane (GO:0016020) 0.682ATP6V1B2, KCNH1
vacuolar membrane (GO:0005774) 3.452ATP6V1B2, KCNH1
vacuolar part (GO:0044437) 3.262ATP6V1B2, KCNH1
bounding membrane of organelle (GO:0098588) 2.392ATP6V1B2, KCNH1
plasma membrane (GO:0005886) 1.392ATP6V1B2, KCNH1
cell projection (GO:0042995) 2.472ATP6V1B2, KCNH1
protein complex (GO:0043234) 1.512ATP6V1B2, KCNH1
macromolecular complex (GO:0032991) 1.352ATP6V1B2, KCNH1
intracellular membrane-bounded organelle (GO:0043231) 0.62ATP6V1B2, KCNH1
cell part (GO:0044464) 0.112ATP6V1B2, KCNH1
intracellular organelle part (GO:0044446) 0.812ATP6V1B2, KCNH1
membrane protein complex (GO:0098796) 2.842ATP6V1B2, KCNH1
cytoplasmic part (GO:0044444) 0.822ATP6V1B2, KCNH1
intracellular part (GO:0044424) 0.282ATP6V1B2, KCNH1
membrane part (GO:0044425) 0.952ATP6V1B2, KCNH1
integral component of membrane (GO:0016021) 1.142ATP6V1B2, KCNH1
organelle part (GO:0044422) 0.792ATP6V1B2, KCNH1