Disease table of TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL OMIM ID: 211900

Gene-disease associations table

GeneAssociated with TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
KLOMIM, HUMSAVARHGNC link13q13.11211900
FGF23ClinVar, OMIM, HUMSAVARHGNC link12p13.322PS193100, 211900
GALNT3ClinVar, OMIMHGNC link2q24.31211900

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
KLYES1HMGA10
GALNT3YES2NRF1, TFAP2A0
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
KLFGF23Yesactivation, binding2FGFR1, FGFR4
KLGALNT3No-1FGF23
FGF23GALNT3Yesactivation, ptmod0

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
FGF23GALNT3yes, they interactGALNT3 Glycosylates FGF23. [UniProt]
FGF23KLyes, they interactFGF23 upregulates EGR1 expression in the presence of KL. [UniProt]
GALNT3KLNo
KEGG pathways annotation: shared terms (no NET-GE enrichment)

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Metabolic pathwayshsa011002.492GALNT3, KL
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Interleukin-2 signalingR-HSA-4519275.052FGF23, KL
Signaling by the B Cell Receptor (BCR)R-HSA-9837054.622FGF23, KL
GAB1 signalosomeR-HSA-1802926.312FGF23, KL
Developmental BiologyR-HSA-12667383.482FGF23, KL
Signaling by VEGFR-HSA-1941384.662FGF23, KL
FCERI mediated MAPK activationR-HSA-28717964.322FGF23, KL
IRS-mediated signallingR-HSA-1123994.872FGF23, KL
VEGFA-VEGFR2 PathwayR-HSA-44200974.72FGF23, KL
Signaling by EGFRR-HSA-1779294.592FGF23, KL
PI-3K cascade:FGFR3R-HSA-56547106.372FGF23, KL
DAP12 interactionsR-HSA-21721274.562FGF23, KL
Downstream signaling of activated FGFR4R-HSA-56547164.712FGF23, KL
Signaling by ERBB2R-HSA-12279864.662FGF23, KL
VEGFR2 mediated cell proliferationR-HSA-52189215.072FGF23, KL
PI3K/AKT activationR-HSA-1982036.322FGF23, KL
Immune SystemR-HSA-1682562.372FGF23, KL
Frs2-mediated activationR-HSA-1709685.122FGF23, KL
PI3K events in ERBB2 signalingR-HSA-19636426.372FGF23, KL
Downstream signal transductionR-HSA-1867634.652FGF23, KL
Role of LAT2/NTAL/LAB on calcium mobilizationR-HSA-27309054.952FGF23, KL
Signalling to p38 via RIT and RINR-HSA-1877065.122FGF23, KL
FRS-mediated FGFR2 signalingR-HSA-56547005.142FGF23, KL
SOS-mediated signallingR-HSA-1124125.152FGF23, KL
FRS-mediated FGFR3 signalingR-HSA-56547065.142FGF23, KL
Downstream signaling of activated FGFR3R-HSA-56547084.712FGF23, KL
Fc epsilon receptor (FCERI) signalingR-HSA-24542024.032FGF23, KL
Interleukin receptor SHC signalingR-HSA-9125265.092FGF23, KL
Innate Immune SystemR-HSA-1682493.172FGF23, KL
NGF signalling via TRKA from the plasma membraneR-HSA-1870374.512FGF23, KL
Prolonged ERK activation eventsR-HSA-1698935.112FGF23, KL
Signaling by FGFR2R-HSA-56547384.682FGF23, KL
GRB2 events in EGFR signalingR-HSA-1798125.152FGF23, KL
Signaling by FGFR1R-HSA-56547364.692FGF23, KL
PI3K events in ERBB4 signalingR-HSA-12503426.372FGF23, KL
PI3K CascadeR-HSA-1097046.682FGF23, KL
Axon guidanceR-HSA-4224753.932FGF23, KL
SHC-mediated cascade:FGFR1R-HSA-56546888.592FGF23, KL
FGFR1 ligand binding and activationR-HSA-1902428.982FGF23, KL
Signaling by LeptinR-HSA-25865525.12FGF23, KL
Constitutive Signaling by Aberrant PI3K in CancerR-HSA-22195307.052FGF23, KL
IGF1R signaling cascadeR-HSA-24289244.852FGF23, KL
IRS-related events triggered by IGF1RR-HSA-24289284.852FGF23, KL
Signaling by Insulin receptorR-HSA-747524.732FGF23, KL
DiseaseR-HSA-16436853.332FGF23, KL
Insulin receptor signalling cascadeR-HSA-747514.852FGF23, KL
FGFR1c and Klotho ligand binding and activationR-HSA-19037411.42FGF23, KL
Downstream signaling of activated FGFR1R-HSA-56546874.712FGF23, KL
PI-3K cascade:FGFR4R-HSA-56547206.372FGF23, KL
PI-3K cascade:FGFR1R-HSA-56546896.372FGF23, KL
Gastrin-CREB signalling pathway via PKC and MAPKR-HSA-8819074.262FGF23, KL
Negative regulation of FGFR1 signalingR-HSA-56547267.982FGF23, KL
Downstream signaling events of B Cell Receptor (BCR)R-HSA-11683725.592FGF23, KL
PI3K/AKT Signaling in CancerR-HSA-22195286.562FGF23, KL
Diseases of signal transductionR-HSA-56632024.892FGF23, KL
GRB2 events in ERBB2 signalingR-HSA-19636405.152FGF23, KL
Signalling to RASR-HSA-1670445.082FGF23, KL
PI-3K cascade:FGFR2R-HSA-56546956.372FGF23, KL
Downstream signaling of activated FGFR2R-HSA-56546964.712FGF23, KL
SHC1 events in EGFR signalingR-HSA-1803365.152FGF23, KL
FRS-mediated FGFR1 signalingR-HSA-56546935.142FGF23, KL
SHC1 events in ERBB2 signalingR-HSA-12501965.152FGF23, KL
ARMS-mediated activationR-HSA-1709845.122FGF23, KL
SHC1 events in ERBB4 signalingR-HSA-12503475.152FGF23, KL
Signaling by PDGFR-HSA-1867974.532FGF23, KL
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)R-HSA-24041924.852FGF23, KL
Signaling by InterleukinsR-HSA-4491474.712FGF23, KL
Cytokine Signaling in Immune systemR-HSA-12802153.742FGF23, KL
Signaling by ERBB4R-HSA-12363944.72FGF23, KL
MAPK1/MAPK3 signalingR-HSA-56849965.112FGF23, KL
Adaptive Immune SystemR-HSA-12802183.192FGF23, KL
MAPK family signaling cascadesR-HSA-56830574.892FGF23, KL
Signalling by NGFR-HSA-1665204.232FGF23, KL
Phospholipase C-mediated cascade: FGFR1R-HSA-56542197.432FGF23, KL
RAF/MAP kinase cascadeR-HSA-56730015.152FGF23, KL
Signaling by FGFR4R-HSA-56547434.692FGF23, KL
Signaling by FGFR3R-HSA-56547414.692FGF23, KL
Signaling by FGFRR-HSA-1902364.672FGF23, KL
Signaling by SCF-KITR-HSA-14335574.732FGF23, KL
NCAM signaling for neurite out-growthR-HSA-3751654.92FGF23, KL
DAP12 signalingR-HSA-24244914.642FGF23, KL
Interleukin-3, 5 and GM-CSF signalingR-HSA-5129884.992FGF23, KL
FRS-mediated FGFR4 signalingR-HSA-56547125.142FGF23, KL
PIP3 activates AKT signalingR-HSA-12576046.372FGF23, KL
Signaling by GPCRR-HSA-3727902.682FGF23, KL
Signalling to ERKsR-HSA-1876875.042FGF23, KL
Signal TransductionR-HSA-1625821.782FGF23, KL

NET-GE enrichment

Term New enriched termICP valueGenes
FGFR1c and Klotho ligand binding and activation (R-HSA-190374) -11.40.0FGF23, KL
PI3K/AKT Signaling in Cancer (R-HSA-2219528) -6.560.039FGF23, KL
PI3K Cascade (R-HSA-109704) -6.680.033FGF23, KL
FGFR1 ligand binding and activation (R-HSA-190242) -8.980.001FGF23, KL
SHC-mediated cascade:FGFR1 (R-HSA-5654688) -8.590.002FGF23, KL
Constitutive Signaling by Aberrant PI3K in Cancer (R-HSA-2219530) -7.050.031FGF23, KL
Negative regulation of FGFR1 signaling (R-HSA-5654726) -7.980.005FGF23, KL
Phospholipase C-mediated cascade: FGFR1 (R-HSA-5654219) -7.430.031FGF23, KL
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
catalytic activity (GO:0003824) 1.053FGF23, GALNT3, KL
transferase activity (GO:0016740) 1.953FGF23, KL, GALNT3
binding (GO:0005488) 0.183FGF23, KL, GALNT3
protein binding (GO:0005515) 0.463FGF23, KL, GALNT3
phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934) 5.612FGF23, KL
Ras guanyl-nucleotide exchange factor activity (GO:0005088) 4.312FGF23, KL
growth factor receptor binding (GO:0070851) 4.872FGF23, KL
phosphatidylinositol kinase activity (GO:0052742) 5.812FGF23, KL
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.772FGF23, KL
kinase activity (GO:0016301) 2.932FGF23, KL
guanyl-nucleotide exchange factor activity (GO:0005085) 4.022FGF23, KL
phosphatidylinositol bisphosphate kinase activity (GO:0052813) 5.562FGF23, KL
phosphatidylinositol 3-kinase activity (GO:0035004) 5.492FGF23, KL
1-phosphatidylinositol-3-kinase activity (GO:0016303) 5.982FGF23, KL
receptor binding (GO:0005102) 2.432FGF23, KL
molecular function regulator (GO:0098772) 2.512FGF23, KL
fibroblast growth factor receptor binding (GO:0005104) 6.412FGF23, KL
phosphotransferase activity, alcohol group as acceptor (GO:0016773) 3.082FGF23, KL

NET-GE enrichment

Term New enriched termICP valueGenes
extracellular matrix structural constituent (GO:0005201) NEW5.370.016FGF23, GALNT3
growth factor receptor binding (GO:0070851) -4.870.005FGF23, KL
fibroblast growth factor receptor binding (GO:0005104) -6.410.0FGF23, KL
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
signal transduction (GO:0007165) 1.283FGF23, GALNT3, KL
cell surface receptor signaling pathway (GO:0007166) 2.093FGF23, KL, GALNT3
enzyme linked receptor protein signaling pathway (GO:0007167) 3.243FGF23, KL, GALNT3
transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) 3.543FGF23, KL, GALNT3
fibroblast growth factor receptor signaling pathway (GO:0008543) 5.33FGF23, GALNT3, KL
regulation of biological process (GO:0050789) 0.453FGF23, GALNT3, KL
single-organism process (GO:0044699) 0.483FGF23, KL, GALNT3
cellular protein metabolic process (GO:0044267) 1.633FGF23, GALNT3, KL
single-organism metabolic process (GO:0044710) 1.633FGF23, KL, GALNT3
cellular macromolecule metabolic process (GO:0044260) 0.933FGF23, KL, GALNT3
organic substance metabolic process (GO:0071704) 0.633FGF23, GALNT3, KL
biological regulation (GO:0065007) 0.393FGF23, KL, GALNT3
cellular process (GO:0009987) 0.263FGF23, GALNT3, KL
cellular protein modification process (GO:0006464) 1.793FGF23, GALNT3, KL
regulation of cellular process (GO:0050794) 0.53FGF23, KL, GALNT3
macromolecule modification (GO:0043412) 1.733FGF23, GALNT3, KL
protein modification process (GO:0036211) 1.793FGF23, GALNT3, KL
single-organism cellular process (GO:0044763) 0.653FGF23, KL, GALNT3
metabolic process (GO:0008152) 0.583FGF23, KL, GALNT3
primary metabolic process (GO:0044238) 0.693FGF23, KL, GALNT3
protein metabolic process (GO:0019538) 1.453FGF23, GALNT3, KL
cellular metabolic process (GO:0044237) 0.693FGF23, KL, GALNT3
macromolecule metabolic process (GO:0043170) 0.833FGF23, GALNT3, KL
regulation of phosphate metabolic process (GO:0019220) 2.352FGF23, KL
regulation of primary metabolic process (GO:0080090) 1.082FGF23, KL
regulation of metabolic process (GO:0019222) 1.022FGF23, KL
positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080) 8.122FGF23, KL
positive regulation of response to stimulus (GO:0048584) 2.182FGF23, KL
regulation of response to stimulus (GO:0048583) 1.542FGF23, KL
regulation of bone mineralization (GO:0030500) 5.492FGF23, KL
signal transduction by protein phosphorylation (GO:0023014) 3.792FGF23, KL
single-organism biosynthetic process (GO:0044711) 2.82FGF23, KL
positive regulation of macromolecule metabolic process (GO:0010604) 1.812FGF23, KL
regulation of signal transduction (GO:0009966) 1.842FGF23, KL
positive regulation of signal transduction (GO:0009967) 2.52FGF23, KL
MAPK cascade (GO:0000165) 3.912FGF23, KL
peptidyl-amino acid modification (GO:0018193) 2.982FGF23, GALNT3
positive regulation of molecular function (GO:0044093) 2.232FGF23, KL
positive regulation of biological process (GO:0048518) 1.22FGF23, KL
phosphatidylinositol biosynthetic process (GO:0006661) 4.942FGF23, KL
regulation of macromolecule metabolic process (GO:0060255) 1.082FGF23, KL
phosphatidylinositol metabolic process (GO:0046488) 4.462FGF23, KL
glycerolipid metabolic process (GO:0046486) 3.912FGF23, KL
regulation of phosphorylation (GO:0042325) 2.52FGF23, KL
positive regulation of phosphorylation (GO:0042327) 2.92FGF23, KL
chemical homeostasis (GO:0048878) 2.972FGF23, KL
organophosphate metabolic process (GO:0019637) 3.042FGF23, KL
positive regulation of metabolic process (GO:0009893) 1.742FGF23, KL
inorganic ion homeostasis (GO:0098771) 3.432FGF23, KL
intracellular signal transduction (GO:0035556) 2.392FGF23, KL
organic substance biosynthetic process (GO:1901576) 1.342FGF23, KL
positive regulation of GTPase activity (GO:0043547) 3.282FGF23, KL
positive regulation of hydrolase activity (GO:0051345) 2.912FGF23, KL
phosphatidylinositol phosphorylation (GO:0046854) 5.192FGF23, KL
regulation of molecular function (GO:0065009) 1.782FGF23, KL
regulation of biological quality (GO:0065008) 1.682FGF23, KL
lipid metabolic process (GO:0006629) 2.682FGF23, KL
regulation of developmental process (GO:0050793) 2.12FGF23, KL
regulation of catalytic activity (GO:0050790) 1.972FGF23, KL
regulation of biomineral tissue development (GO:0070167) 5.412FGF23, KL
positive regulation of MAPK cascade (GO:0043410) 3.572FGF23, KL
regulation of multicellular organismal process (GO:0051239) 1.872FGF23, KL
positive regulation of intracellular signal transduction (GO:1902533) 2.952FGF23, KL
regulation of ossification (GO:0030278) 4.532FGF23, KL
regulation of intracellular signal transduction (GO:1902531) 2.312FGF23, KL
organophosphate biosynthetic process (GO:0090407) 3.672FGF23, KL
inositol lipid-mediated signaling (GO:0048017) 4.912FGF23, KL
regulation of hydrolase activity (GO:0051336) 2.532FGF23, KL
phospholipid biosynthetic process (GO:0008654) 4.392FGF23, KL
positive regulation of protein modification process (GO:0031401) 2.72FGF23, KL
phosphorylation (GO:0016310) 2.632FGF23, KL
ion homeostasis (GO:0050801) 3.422FGF23, KL
positive regulation of signaling (GO:0023056) 2.412FGF23, KL
cellular biosynthetic process (GO:0044249) 1.372FGF23, KL
regulation of signaling (GO:0023051) 1.722FGF23, KL
positive regulation of cell communication (GO:0010647) 2.412FGF23, KL
regulation of cell communication (GO:0010646) 1.732FGF23, KL
regulation of GTPase activity (GO:0043087) 3.212FGF23, KL
positive regulation of catalytic activity (GO:0043085) 2.42FGF23, KL
regulation of MAPK cascade (GO:0043408) 3.222FGF23, KL
phosphatidylinositol-mediated signaling (GO:0048015) 4.932FGF23, KL
positive regulation of phosphorus metabolic process (GO:0010562) 2.782FGF23, KL
regulation of protein metabolic process (GO:0051246) 1.932FGF23, KL
positive regulation of protein metabolic process (GO:0051247) 2.432FGF23, KL
lipid phosphorylation (GO:0046834) 5.132FGF23, KL
positive regulation of cellular protein metabolic process (GO:0032270) 2.492FGF23, KL
regulation of protein modification process (GO:0031399) 2.322FGF23, KL
phospholipid metabolic process (GO:0006644) 3.882FGF23, KL
cellular lipid metabolic process (GO:0044255) 2.922FGF23, KL
regulation of phosphatidylinositol 3-kinase signaling (GO:0014066) 4.792FGF23, KL
lipid modification (GO:0030258) 4.372FGF23, KL
regulation of cellular protein metabolic process (GO:0032268) 1.992FGF23, KL
glycerophospholipid biosynthetic process (GO:0046474) 4.622FGF23, KL
glycerophospholipid metabolic process (GO:0006650) 4.132FGF23, KL
positive regulation of cellular metabolic process (GO:0031325) 1.812FGF23, KL
regulation of cellular metabolic process (GO:0031323) 1.072FGF23, KL
homeostatic process (GO:0042592) 2.612FGF23, KL
glycerolipid biosynthetic process (GO:0045017) 4.532FGF23, KL
protein phosphorylation (GO:0006468) 2.892FGF23, KL
positive regulation of phosphate metabolic process (GO:0045937) 2.782FGF23, KL
regulation of phosphorus metabolic process (GO:0051174) 2.352FGF23, KL
biosynthetic process (GO:0009058) 1.322FGF23, KL
phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092) 5.842FGF23, KL
lipid biosynthetic process (GO:0008610) 3.492FGF23, KL
carbohydrate metabolic process (GO:0005975) 3.262GALNT3, KL
phosphate-containing compound metabolic process (GO:0006796) 2.162FGF23, KL
regulation of multicellular organismal development (GO:2000026) 2.312FGF23, KL
phosphorus metabolic process (GO:0006793) 2.152FGF23, KL
regulation of protein phosphorylation (GO:0001932) 2.572FGF23, KL
positive regulation of protein phosphorylation (GO:0001934) 2.952FGF23, KL
positive regulation of cellular process (GO:0048522) 1.32FGF23, KL

NET-GE enrichment

Term New enriched termICP valueGenes
insulin receptor signaling pathway (GO:0008286) NEW5.330.042FGF23, KL
positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080) -8.120.0FGF23, KL
regulation of biomineral tissue development (GO:0070167) -5.410.01FGF23, KL
regulation of bone mineralization (GO:0030500) -5.490.009FGF23, KL
phosphatidylinositol-mediated signaling (GO:0048015) -4.930.036FGF23, KL
inositol lipid-mediated signaling (GO:0048017) -4.910.036FGF23, KL
GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GOICNumber of genes with the same GOGenes
cell part (GO:0044464) 0.113FGF23, KL, GALNT3
extracellular region part (GO:0044421) 1.573FGF23, GALNT3, KL
extracellular organelle (GO:0043230) 1.892GALNT3, KL
extracellular space (GO:0005615) 2.632FGF23, KL
extracellular exosome (GO:0070062) 1.892KL, GALNT3
integral component of membrane (GO:0016021) 1.142GALNT3, KL
membrane (GO:0016020) 0.682GALNT3, KL
cytoplasmic part (GO:0044444) 0.822FGF23, GALNT3
membrane-bounded vesicle (GO:0031988) 1.712GALNT3, KL
intracellular organelle part (GO:0044446) 0.812FGF23, GALNT3
Golgi apparatus part (GO:0044431) 3.02FGF23, GALNT3
extracellular region (GO:0005576) 2.182FGF23, KL
organelle part (GO:0044422) 0.792FGF23, GALNT3
intracellular part (GO:0044424) 0.282FGF23, GALNT3
membrane part (GO:0044425) 0.952GALNT3, KL
extracellular vesicle (GO:1903561) 1.892KL, GALNT3
membrane-bounded organelle (GO:0043227) 0.472KL, GALNT3
organelle (GO:0043226) 0.42KL, GALNT3
intrinsic component of membrane (GO:0031224) 1.132KL, GALNT3
vesicle (GO:0031982) 1.642GALNT3, KL