Disease table of HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES OMIM ID: PS615419

Gene-disease associations table

GeneAssociated with HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
TBCKClinVar, OMIMHGNC link4q241PS615419
UNC80ClinVar, OMIMHGNC link2q341PS615419
NALCNClinVar, OMIM, HUMSAVARHGNC link13q33.12616266, PS615419

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
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
UNC80NALCNYesbinding1UNC79

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
Gene1Gene2Direct interactionMore information
NALCNUNC80yes, complexThere is a complex made of NALCN, UNC79 and UNC80; UNC80 bridges NALCN to UNC79. [UniProt]
KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Ion channel transportR-HSA-9837125.342NALCN, UNC80
Transmembrane transport of small moleculesR-HSA-3825513.792NALCN, UNC80
Stimuli-sensing channelsR-HSA-26723516.282NALCN, UNC80

NET-GE enrichment

Term New enriched termICP valueGenes
Ion channel transport (R-HSA-983712) -5.340.005NALCN, UNC80
Transmembrane transport of small molecules (R-HSA-382551) -3.790.021NALCN, UNC80
Stimuli-sensing channels (R-HSA-2672351) -6.280.001NALCN, UNC80
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.182NALCN, TBCK
protein binding (GO:0005515) 0.462NALCN, TBCK
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
establishment of localization (GO:0051234) 1.483NALCN, UNC80, TBCK
localization (GO:0051179) 1.43NALCN, UNC80, TBCK
transport (GO:0006810) 1.513NALCN, UNC80, TBCK
regulation of transport (GO:0051049) 2.242NALCN, TBCK
ion transport (GO:0006811) 2.662NALCN, UNC80
transmembrane transport (GO:0055085) 2.722NALCN, UNC80
ion transmembrane transport (GO:0034220) 3.082NALCN, UNC80
biological regulation (GO:0065007) 0.392NALCN, TBCK
regulation of localization (GO:0032879) 1.942NALCN, TBCK
regulation of biological process (GO:0050789) 0.452NALCN, TBCK
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.113NALCN, UNC80, TBCK
membrane part (GO:0044425) 0.952NALCN, UNC80
integral component of membrane (GO:0016021) 1.142NALCN, UNC80
membrane (GO:0016020) 0.682NALCN, UNC80
intrinsic component of membrane (GO:0031224) 1.132NALCN, UNC80
plasma membrane (GO:0005886) 1.392NALCN, UNC80