Disease table of HYPOCALCEMIA OMIM ID: PS601198

Gene-disease associations table

GeneAssociated with HYPOCALCEMIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
GNA11ClinVar, OMIM, HUMSAVARHGNC link19p13.32PS145980, PS601198
CASRClinVar, OMIM, HUMSAVARHGNC 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
regulated geneassociated to this disease# TFsTFs # TFs associated with this diseaseTFs associated with this disease
CASRYES2BRCA1, GCM20
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
GNA11CASRYesreaction, binding130GPR68, P2RY6, GPR17, ADRA2B, AGT, XCL1, PTGFR, PROK2, GHSR, CYSLTR2, GPRC6A, NTS, EDN3, CYSLTR1, EDN1, NPS, CHRM5, SAA1, NMUR1, XCR1, F2R, GNA14, HCRT, LPAR6, FFAR1, GNRH2, GNRHR, EDN2, F2RL3, KISS1, NMUR2, ANXA1, GRM1, EDNRB, GNAQ, OXT, ADRA2C, GRP, BDKRB2, KNG1, F2RL1, GPR65, TAC1, TAC3, GCG, OPN4, FFAR3, AVP, NPFFR2, P2RY1, F2RL2, KISS1R, FFAR2, PROK1, QRFP, ADRA2A, XCL2, TRH, GPR132, GRPR, ADRA1B, CHRM2, PTGER3, QRFPR, HCRTR2, P2RY10, HRH1, EDNRA, GNG2, FPR2, TBXA2R, MLNR, CCKBR, LPAR3, APP, GNA15, NMBR, UTS2R, UTS2D, CCK, NPFF, MCHR2, NMB, AGTR1, NTSR2, LPAR5, LPAR4, AVPR1A, HCRTR1, OXTR, MLN, GCGR, TRHR, LTB4R, GNRH1, GNAI3, GPR4, BDKRB1, P2RY2, PTAFR, LTB4R2, PMCH, HTR2A, GRM5, MTNR1A, NPSR1, CCKAR, GNAI1, NTSR1, TACR3, GNB1, NPFFR1, MTRNR2L2, CHRM1, HTR2B, TACR2, TACR1, NMU, CHRM3, PTGER1, PROKR2, LPAR1, S1PR3, NMS, ADRA1D, PROKR1, ADRA1A, MCHR1, LPAR2, UTS2

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
GnRH signaling pathway (hsa04912) NEW6.180.026CASR, GNA11
Insulin secretion (hsa04911) NEW6.180.027CASR, GNA11
Cholinergic synapse (hsa04725) NEW5.880.037CASR, GNA11
Gap junction (hsa04540) NEW6.240.026CASR, GNA11
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
GPCR downstream signalingR-HSA-3883963.072CASR, GNA11
Gastrin-CREB signalling pathway via PKC and MAPKR-HSA-8819074.262CASR, GNA11
G alpha (q) signalling eventsR-HSA-4164765.422CASR, GNA11
Signaling by GPCRR-HSA-3727902.682CASR, GNA11
Signal TransductionR-HSA-1625821.782CASR, GNA11

NET-GE enrichment

Term New enriched termICP valueGenes
Regulation of insulin secretion (R-HSA-422356) NEW6.660.012CASR, GNA11
Integration of energy metabolism (R-HSA-163685) NEW6.240.022CASR, GNA11
G alpha (q) signalling events (R-HSA-416476) -5.420.011CASR, GNA11
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cation binding (GO:0043169) 1.42CASR, GNA11
protein binding (GO:0005515) 0.462CASR, GNA11
hydrolase activity (GO:0016787) 1.92CASR, GNA11
ion binding (GO:0043167) 1.362CASR, GNA11
catalytic activity (GO:0003824) 1.052CASR, GNA11
macromolecular complex binding (GO:0044877) 2.612CASR, GNA11
binding (GO:0005488) 0.182CASR, GNA11
signal transducer activity (GO:0004871) 2.282CASR, GNA11
protein complex binding (GO:0032403) 3.092CASR, GNA11
receptor binding (GO:0005102) 2.432CASR, GNA11
metal ion binding (GO:0046872) 1.412CASR, GNA11
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
developmental process (GO:0032502) 1.362CASR, GNA11
response to abiotic stimulus (GO:0009628) 2.82CASR, GNA11
cellular response to stimulus (GO:0051716) 1.972CASR, GNA11
anatomical structure development (GO:0048856) 1.582CASR, GNA11
detection of stimulus (GO:0051606) 3.222CASR, GNA11
response to external stimulus (GO:0009605) 2.552CASR, GNA11
phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200) 5.382CASR, GNA11
response to stimulus (GO:0050896) 1.222CASR, GNA11
cellular process (GO:0009987) 0.262CASR, GNA11
regulation of cellular process (GO:0050794) 0.52CASR, GNA11
single-organism developmental process (GO:0044767) 1.492CASR, GNA11
biological regulation (GO:0065007) 0.392CASR, GNA11
signal transduction (GO:0007165) 1.282CASR, GNA11
single-organism cellular process (GO:0044763) 0.652CASR, GNA11
regulation of biological quality (GO:0065008) 1.682CASR, GNA11
G-protein coupled receptor signaling pathway (GO:0007186) 2.642CASR, GNA11
regulation of biological process (GO:0050789) 0.452CASR, GNA11
single-organism process (GO:0044699) 0.482CASR, GNA11

NET-GE enrichment

Term New enriched termICP valueGenes
phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200) -5.380.003CASR, GNA11
adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188) NEW4.780.013CASR, GNA11
cellular response to pH (GO:0071467) NEW6.780.004CASR, GNA11
G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187) NEW4.60.021CASR, GNA11
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cytoplasm (GO:0005737) 1.012CASR, GNA11
membrane (GO:0016020) 0.682CASR, GNA11
cell part (GO:0044464) 0.112CASR, GNA11
neuron part (GO:0097458) 2.642CASR, GNA11
plasma membrane (GO:0005886) 1.392CASR, GNA11
intracellular part (GO:0044424) 0.282CASR, GNA11
cell projection (GO:0042995) 2.472CASR, GNA11
membrane-bounded organelle (GO:0043227) 0.472CASR, GNA11
organelle (GO:0043226) 0.42CASR, GNA11