Disease table of HYPOPARATHYROIDISM, FAMILIAL ISOLATED OMIM ID: 146200

Gene-disease associations table

GeneAssociated with HYPOPARATHYROIDISM, FAMILIAL ISOLATED inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GCM2ClinVar, OMIM, HUMSAVARHGNC link6p24.21146200
PTHClinVar, OMIM, HUMSAVARHGNC link11p15.31146200
CASRClinVarHGNC link3q13.335612899, 146200, PS601198, 239200, PS145980

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD
Cytogenetic band analysis
Transcription Factors (TF) annotation from TRRUST
TFassociated to this disease# regulated genesRegulated genes# regulated genes associated with this diseaseRegulated genes associated with this disease
GCM2YES2PTH, CASR2PTH, CASR
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
PTHYES4VDR, APEX1, GCM2, RUNX21GCM2
CASRYES2BRCA1, GCM21GCM2
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
PTHCASRYesbinding, expression12EDNRB, NPS, GNG2, CXCL12, POMC, IL6, EDN1, GNB1, AVP, GCGR, NPSR1, GCG

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
KEGG pathways annotation: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term New enriched termICP valueGenes
Insulin secretion (hsa04911) NEW6.180.034PTH, CASR
Circadian entrainment (hsa04713) NEW6.110.03PTH, CASR
Inflammatory mediator regulation of TRP channels (hsa04750) NEW6.070.044PTH, CASR
Gap junction (hsa04540) NEW6.240.033PTH, CASR
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
GPCR downstream signalingR-HSA-3883963.072PTH, CASR
GPCR ligand bindingR-HSA-5007924.192PTH, CASR
Signal TransductionR-HSA-1625821.782PTH, CASR
Signaling by GPCRR-HSA-3727902.682PTH, CASR

NET-GE enrichment

Term New enriched termICP valueGenes
Diseases of metabolism (R-HSA-5668914) NEW6.570.04PTH, CASR
Class B/2 (Secretin family receptors) (R-HSA-373080) NEW6.520.033PTH, CASR
GPCR ligand binding (R-HSA-500792) -4.190.033PTH, CASR
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183PTH, CASR, GCM2
protein binding (GO:0005515) 0.463PTH, CASR, GCM2
cation binding (GO:0043169) 1.42CASR, GCM2
receptor binding (GO:0005102) 2.432PTH, CASR
metal ion binding (GO:0046872) 1.412CASR, GCM2
ion binding (GO:0043167) 1.362CASR, GCM2
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular homeostasis (GO:0019725) 3.233PTH, CASR, GCM2
cellular cation homeostasis (GO:0030003) 3.63PTH, CASR, GCM2
regulation of metabolic process (GO:0019222) 1.023PTH, CASR, GCM2
ion homeostasis (GO:0050801) 3.423PTH, CASR, GCM2
homeostatic process (GO:0042592) 2.613PTH, CASR, GCM2
calcium ion homeostasis (GO:0055074) 3.973PTH, CASR, GCM2
inorganic ion homeostasis (GO:0098771) 3.433PTH, CASR, GCM2
macromolecule metabolic process (GO:0043170) 0.833PTH, CASR, GCM2
regulation of biological process (GO:0050789) 0.453PTH, CASR, GCM2
single-organism process (GO:0044699) 0.483PTH, CASR, GCM2
divalent inorganic cation homeostasis (GO:0072507) 3.93PTH, CASR, GCM2
cellular divalent inorganic cation homeostasis (GO:0072503) 3.963PTH, CASR, GCM2
cellular macromolecule metabolic process (GO:0044260) 0.933PTH, CASR, GCM2
organic substance metabolic process (GO:0071704) 0.633PTH, CASR, GCM2
regulation of macromolecule metabolic process (GO:0060255) 1.083PTH, CASR, GCM2
biological regulation (GO:0065007) 0.393PTH, CASR, GCM2
regulation of biological quality (GO:0065008) 1.683PTH, CASR, GCM2
regulation of gene expression (GO:0010468) 1.373PTH, CASR, GCM2
developmental process (GO:0032502) 1.363PTH, CASR, GCM2
cellular metal ion homeostasis (GO:0006875) 3.753PTH, CASR, GCM2
cellular calcium ion homeostasis (GO:0006874) 4.013PTH, CASR, GCM2
cellular process (GO:0009987) 0.263PTH, CASR, GCM2
cellular ion homeostasis (GO:0006873) 3.573PTH, CASR, GCM2
regulation of cellular process (GO:0050794) 0.53PTH, CASR, GCM2
single-organism cellular process (GO:0044763) 0.653PTH, CASR, GCM2
metabolic process (GO:0008152) 0.583PTH, CASR, GCM2
metal ion homeostasis (GO:0055065) 3.613PTH, CASR, GCM2
cation homeostasis (GO:0055080) 3.463PTH, CASR, GCM2
cellular chemical homeostasis (GO:0055082) 3.43PTH, CASR, GCM2
primary metabolic process (GO:0044238) 0.693PTH, CASR, GCM2
anatomical structure development (GO:0048856) 1.583PTH, CASR, GCM2
cellular metabolic process (GO:0044237) 0.693PTH, CASR, GCM2
chemical homeostasis (GO:0048878) 2.973PTH, CASR, GCM2
regulation of cell proliferation (GO:0042127) 2.412PTH, CASR
response to extracellular stimulus (GO:0009991) 3.712PTH, CASR
positive regulation of metabolic process (GO:0009893) 1.742PTH, CASR
regulation of transport (GO:0051049) 2.242PTH, CASR
positive regulation of response to stimulus (GO:0048584) 2.182PTH, CASR
regulation of response to stimulus (GO:0048583) 1.542PTH, CASR
regulation of cellular metabolic process (GO:0031323) 1.072PTH, GCM2
positive regulation of signaling (GO:0023056) 2.412PTH, CASR
cellular biosynthetic process (GO:0044249) 1.372PTH, GCM2
cellular nitrogen compound metabolic process (GO:0034641) 1.222PTH, GCM2
nitrogen compound metabolic process (GO:0006807) 1.132PTH, GCM2
positive regulation of gene expression (GO:0010628) 2.352PTH, CASR
signal transduction (GO:0007165) 1.282PTH, CASR
cellular macromolecule biosynthetic process (GO:0034645) 1.662PTH, GCM2
regulation of signaling (GO:0023051) 1.722PTH, CASR
organic substance biosynthetic process (GO:1901576) 1.342PTH, GCM2
intracellular signal transduction (GO:0035556) 2.392PTH, CASR
regulation of cell communication (GO:0010646) 1.732PTH, CASR
positive regulation of cell communication (GO:0010647) 2.412PTH, CASR
response to organic cyclic compound (GO:0014070) 3.072PTH, CASR
regulation of primary metabolic process (GO:0080090) 1.082PTH, GCM2
response to endogenous stimulus (GO:0009719) 2.792PTH, CASR
nucleobase-containing compound metabolic process (GO:0006139) 1.352PTH, GCM2
single-organism metabolic process (GO:0044710) 1.632PTH, CASR
regulation of localization (GO:0032879) 1.942PTH, CASR
positive regulation of macromolecule metabolic process (GO:0010604) 1.812PTH, CASR
response to lipid (GO:0033993) 3.112PTH, CASR
positive regulation of multicellular organismal process (GO:0051240) 2.492PTH, CASR
regulation of cellular macromolecule biosynthetic process (GO:2000112) 1.462PTH, GCM2
response to growth factor (GO:0070848) 4.142PTH, CASR
adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188) 4.782PTH, CASR
response to vitamin D (GO:0033280) 6.262PTH, CASR
response to vitamin (GO:0033273) 5.112PTH, CASR
organic cyclic compound metabolic process (GO:1901360) 1.262PTH, GCM2
regulation of cellular biosynthetic process (GO:0031326) 1.382PTH, GCM2
positive regulation of biological process (GO:0048518) 1.22PTH, CASR
G-protein coupled receptor signaling pathway (GO:0007186) 2.642PTH, CASR
G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187) 4.62PTH, CASR
positive regulation of cell proliferation (GO:0008284) 3.012PTH, CASR
cell communication (GO:0007154) 3.042PTH, CASR
multicellular organismal process (GO:0032501) 1.452CASR, GCM2
positive regulation of transport (GO:0051050) 2.92PTH, CASR
regulation of nucleobase-containing compound metabolic process (GO:0019219) 1.432PTH, GCM2
cellular aromatic compound metabolic process (GO:0006725) 1.32PTH, GCM2
response to nutrient (GO:0007584) 4.492PTH, CASR
regulation of biosynthetic process (GO:0009889) 1.372PTH, GCM2
regulation of nucleic acid-templated transcription (GO:1903506) 1.552PTH, GCM2
single-organism developmental process (GO:0044767) 1.492CASR, GCM2
biosynthetic process (GO:0009058) 1.322PTH, GCM2
macromolecule biosynthetic process (GO:0009059) 1.612PTH, GCM2
regulation of nitrogen compound metabolic process (GO:0051171) 1.362PTH, GCM2
response to metal ion (GO:0010038) 3.912PTH, CASR
regulation of RNA biosynthetic process (GO:2001141) 1.552PTH, GCM2
response to chemical (GO:0042221) 1.982PTH, CASR
response to inorganic substance (GO:0010035) 3.562PTH, CASR
response to organic substance (GO:0010033) 2.22PTH, CASR
heterocycle metabolic process (GO:0046483) 1.312PTH, GCM2
response to oxygen-containing compound (GO:1901700) 2.572PTH, CASR
single-multicellular organism process (GO:0044707) 1.782CASR, GCM2
response to external stimulus (GO:0009605) 2.552PTH, CASR
response to stimulus (GO:0050896) 1.222PTH, CASR
regulation of RNA metabolic process (GO:0051252) 1.522PTH, GCM2
response to nutrient levels (GO:0031667) 3.772PTH, CASR
regulation of multicellular organismal process (GO:0051239) 1.872PTH, CASR
regulation of transcription, DNA-templated (GO:0006355) 1.562PTH, GCM2
phosphate-containing compound metabolic process (GO:0006796) 2.162PTH, CASR
regulation of macromolecule biosynthetic process (GO:0010556) 1.432PTH, GCM2
phosphorus metabolic process (GO:0006793) 2.152PTH, CASR
response to fibroblast growth factor (GO:0071774) 6.172PTH, CASR
positive regulation of cellular process (GO:0048522) 1.32PTH, CASR

NET-GE enrichment

Term New enriched termICP valueGenes
cellular homeostasis (GO:0019725) -3.230.012PTH, CASR, GCM2
divalent inorganic cation homeostasis (GO:0072507) -3.90.001PTH, CASR, GCM2
negative regulation of muscle contraction (GO:0045932) NEW6.680.025PTH, CASR
cellular divalent inorganic cation homeostasis (GO:0072503) -3.960.001PTH, CASR, GCM2
cellular ion homeostasis (GO:0006873) -3.570.004PTH, CASR, GCM2
cellular metal ion homeostasis (GO:0006875) -3.750.003PTH, CASR, GCM2
cellular calcium ion homeostasis (GO:0006874) -4.010.001PTH, CASR, GCM2
ion homeostasis (GO:0050801) -3.420.008PTH, CASR, GCM2
negative regulation of smooth muscle contraction (GO:0045986) NEW7.020.01PTH, CASR
chemical homeostasis (GO:0048878) -2.970.024PTH, CASR, GCM2
adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188) -4.780.05PTH, CASR
response to vitamin (GO:0033273) -5.110.02PTH, CASR
calcium ion homeostasis (GO:0055074) -3.970.001PTH, CASR, GCM2
cellular cation homeostasis (GO:0030003) -3.60.004PTH, CASR, GCM2
metal ion homeostasis (GO:0055065) -3.610.005PTH, CASR, GCM2
cation homeostasis (GO:0055080) -3.460.006PTH, CASR, GCM2
cellular chemical homeostasis (GO:0055082) -3.40.006PTH, CASR, GCM2
response to vitamin D (GO:0033280) -6.260.032PTH, CASR
regulation of amino acid transport (GO:0051955) NEW7.090.032PTH, CASR
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.113PTH, CASR, GCM2
intracellular membrane-bounded organelle (GO:0043231) 0.62CASR, GCM2
nucleus (GO:0005634) 1.072CASR, GCM2
intracellular organelle (GO:0043229) 0.512CASR, GCM2
intracellular part (GO:0044424) 0.282CASR, GCM2
membrane-bounded organelle (GO:0043227) 0.472CASR, GCM2
organelle (GO:0043226) 0.42CASR, GCM2

NET-GE enrichment

Term New enriched termICP valueGenes
recycling endosome (GO:0055037) NEW5.110.038PTH, CASR