Disease table of HYPOCALCIURIC HYPERCALCEMIA OMIM ID: PS145980

Gene-disease associations table

GeneAssociated with HYPOCALCIURIC HYPERCALCEMIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
AP2S1ClinVar, OMIM, HUMSAVARHGNC link19q13.321PS145980
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
By chromosome
Shared chromosomeNumber of genes associated with the diseaseGenes associated with the disease
192AP2S1, GNA11
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
AP2S1GNA11No-2UBC, ARRB2
AP2S1CASRNo-1WNT5A
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: shared terms / NET-GE enrichment (no shared terms)
REACTOME pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Signal TransductionR-HSA-1625821.783AP2S1, GNA11, CASR
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
GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.183AP2S1, GNA11, CASR
protein binding (GO:0005515) 0.463AP2S1, GNA11, CASR
cation binding (GO:0043169) 1.42CASR, 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
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
cellular process (GO:0009987) 0.263AP2S1, GNA11, CASR
regulation of cellular process (GO:0050794) 0.53AP2S1, GNA11, CASR
biological regulation (GO:0065007) 0.393AP2S1, GNA11, CASR
signal transduction (GO:0007165) 1.283AP2S1, GNA11, CASR
single-organism cellular process (GO:0044763) 0.653AP2S1, GNA11, CASR
regulation of biological process (GO:0050789) 0.453AP2S1, GNA11, CASR
single-organism process (GO:0044699) 0.483AP2S1, GNA11, CASR
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
transport (GO:0006810) 1.512AP2S1, CASR
establishment of localization (GO:0051234) 1.482AP2S1, CASR
response to external stimulus (GO:0009605) 2.552CASR, GNA11
regulation of response to external stimulus (GO:0032101) 3.062AP2S1, CASR
regulation of cell communication (GO:0010646) 1.732AP2S1, CASR
regulation of transport (GO:0051049) 2.242AP2S1, CASR
response to stimulus (GO:0050896) 1.222CASR, GNA11
regulation of signaling (GO:0023051) 1.722AP2S1, CASR
regulation of response to stimulus (GO:0048583) 1.542AP2S1, CASR
single-organism developmental process (GO:0044767) 1.492CASR, GNA11
regulation of multicellular organismal process (GO:0051239) 1.872AP2S1, CASR
phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200) 5.382CASR, GNA11
detection of stimulus (GO:0051606) 3.222CASR, GNA11
regulation of localization (GO:0032879) 1.942AP2S1, CASR
regulation of biological quality (GO:0065008) 1.682CASR, GNA11
G-protein coupled receptor signaling pathway (GO:0007186) 2.642CASR, GNA11
localization (GO:0051179) 1.42AP2S1, CASR
anatomical structure development (GO:0048856) 1.582CASR, GNA11

NET-GE enrichment

Term New enriched termICP valueGenes
phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200) -5.380.009CASR, GNA11
adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188) NEW4.780.049CASR, GNA11
cellular response to pH (GO:0071467) NEW6.780.012CASR, GNA11
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
intracellular part (GO:0044424) 0.283AP2S1, GNA11, CASR
membrane (GO:0016020) 0.683AP2S1, GNA11, CASR
cell part (GO:0044464) 0.113AP2S1, GNA11, CASR
plasma membrane (GO:0005886) 1.393AP2S1, GNA11, CASR
cytoplasm (GO:0005737) 1.012CASR, GNA11
organelle membrane (GO:0031090) 1.972AP2S1, GNA11
neuron part (GO:0097458) 2.642CASR, GNA11
membrane-bounded organelle (GO:0043227) 0.472CASR, GNA11
bounding membrane of organelle (GO:0098588) 2.392AP2S1, GNA11
vacuolar membrane (GO:0005774) 3.452AP2S1, GNA11
intracellular organelle part (GO:0044446) 0.812AP2S1, GNA11
lysosomal membrane (GO:0005765) 4.192AP2S1, GNA11
cytoplasmic part (GO:0044444) 0.822AP2S1, GNA11
vacuolar part (GO:0044437) 3.262AP2S1, GNA11
lytic vacuole membrane (GO:0098852) 4.192AP2S1, GNA11
membrane part (GO:0044425) 0.952AP2S1, CASR
whole membrane (GO:0098805) 2.852AP2S1, GNA11
cell projection (GO:0042995) 2.472CASR, GNA11
plasma membrane part (GO:0044459) 1.952AP2S1, CASR
organelle (GO:0043226) 0.42CASR, GNA11
organelle part (GO:0044422) 0.792AP2S1, GNA11