Disease table of PSEUDOHYPOPARATHYROIDISM, TYPE IB OMIM ID: 603233

Gene-disease associations table

GeneAssociated with PSEUDOHYPOPARATHYROIDISM, TYPE IB inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
STX16OMIMHGNC link20q13.321603233
GNAS-AS1OMIMHGNC link20q13.321603233
GNASClinVar, OMIMHGNC link20q13.329612463, 103580, 166350, 174800, 219080, 102200, 219090, 603233, 612462

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
20q13.323GNAS, STX16, GNAS-AS1
By band
Shared bandNumber of genes associated with the diseaseGenes associated with the disease
20q133GNAS, STX16, GNAS-AS1
By region
Shared regionNumber of genes associated with the diseaseGenes associated with the disease
20q13GNAS, STX16, GNAS-AS1
By arm
Shared armNumber of genes associated with the diseaseGenes associated with the disease
20q3GNAS, STX16, GNAS-AS1
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
203GNAS, STX16, GNAS-AS1
Transcription Factors (TF) annotation from TRRUST
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
GNASYES1GATA10
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
binding (GO:0005488) 0.182STX16, GNAS
protein binding (GO:0005515) 0.462STX16, GNAS

NET-GE enrichment

Term New enriched termICP valueGenes
GTPase activity (GO:0003924) NEW4.310.012STX16, GNAS
GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
establishment of localization (GO:0051234) 1.482STX16, GNAS
protein localization (GO:0008104) 2.362STX16, GNAS
organic substance transport (GO:0071702) 2.152STX16, GNAS
intracellular transport (GO:0046907) 2.672STX16, GNAS
transport (GO:0006810) 1.512STX16, GNAS
establishment of protein localization (GO:0045184) 2.532STX16, GNAS
single-organism cellular process (GO:0044763) 0.652STX16, GNAS
establishment of localization in cell (GO:0051649) 2.472STX16, GNAS
protein transport (GO:0015031) 2.622STX16, GNAS
cellular process (GO:0009987) 0.262STX16, GNAS
macromolecule localization (GO:0033036) 2.342STX16, GNAS
localization (GO:0051179) 1.42STX16, GNAS
single-organism process (GO:0044699) 0.482STX16, GNAS
cellular localization (GO:0051641) 2.322STX16, GNAS
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular organelle (GO:0043229) 0.512STX16, GNAS
membrane-bounded organelle (GO:0043227) 0.472STX16, GNAS
organelle (GO:0043226) 0.42STX16, GNAS
intrinsic component of membrane (GO:0031224) 1.132STX16, GNAS
cytoplasm (GO:0005737) 1.012STX16, GNAS
organelle membrane (GO:0031090) 1.972STX16, GNAS
membrane (GO:0016020) 0.682STX16, GNAS
Golgi apparatus part (GO:0044431) 3.02STX16, GNAS
perinuclear region of cytoplasm (GO:0048471) 3.352STX16, GNAS
bounding membrane of organelle (GO:0098588) 2.392STX16, GNAS
trans-Golgi network membrane (GO:0032588) 5.42STX16, GNAS
protein complex (GO:0043234) 1.512STX16, GNAS
macromolecular complex (GO:0032991) 1.352STX16, GNAS
intracellular membrane-bounded organelle (GO:0043231) 0.62STX16, GNAS
cytosol (GO:0005829) 1.682STX16, GNAS
cell part (GO:0044464) 0.112STX16, GNAS
Golgi membrane (GO:0000139) 3.282STX16, GNAS
intracellular organelle part (GO:0044446) 0.812STX16, GNAS
membrane protein complex (GO:0098796) 2.842STX16, GNAS
cytoplasmic part (GO:0044444) 0.822STX16, GNAS
intracellular part (GO:0044424) 0.282STX16, GNAS
membrane part (GO:0044425) 0.952STX16, GNAS
organelle part (GO:0044422) 0.792STX16, GNAS