Disease table of HYPOMAGNESEMIA OMIM ID: PS602014

Gene-disease associations table

GeneAssociated with HYPOMAGNESEMIA inLink to HGNCCytogenetic bandNumber of associated diseasesAssociated diseases
CNNM2ClinVar, OMIM, HUMSAVARHGNC link10q24.322PS602014, 616418
FXYD2ClinVar, OMIM, HUMSAVARHGNC link11q23.31PS602014
CLDN19ClinVar, OMIM, HUMSAVARHGNC link1p34.21PS602014
CLDN16ClinVar, OMIM, HUMSAVARHGNC link3q281PS602014
TRPM6ClinVar, OMIM, HUMSAVARHGNC link9q21.131PS602014
EGFClinVar, OMIM, HUMSAVARHGNC link4q251PS602014

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
EGFYES1SP10
Interactions from BIOGRID - physical
Interactions from BIOGRID - genetic
Interactions from STRING
Gene1Gene2Direct InteractionInteraction modeNumber of shared interactorsShared genes in interaction
CNNM2EGFNo-1UBC
FXYD2TRPM6No-1FOS
CLDN19CLDN16Yesbinding23CLDN1, TJP1, CLDN10, TJP2, CLDN24, CLDN9, CLDN25, CLDN22, CLDN17, INADL, MPDZ, CLDN20, ESAM, CLDN2, CLDN8, CLDN11, CLDN6, CLDN15, CLDN5, CLDN14, TJP3, CLDN23, CLDN18
TRPM6EGFNo-1INS

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

Shared terms

KEGG termKEGG term IDICNumber of genes with the same termGenes
Hepatitis Chsa051605.683EGF, CLDN19, CLDN16
Tight junctionhsa045305.532CLDN19, CLDN16
Mineral absorptionhsa049787.092TRPM6, FXYD2
Cell adhesion molecules (CAMs)hsa045145.362CLDN19, CLDN16
Leukocyte transendothelial migrationhsa046705.742CLDN19, CLDN16

NET-GE enrichment

Term New enriched termICP valueGenes
Mineral absorption (hsa04978) -7.090.031EGF, TRPM6, FXYD2
Leukocyte transendothelial migration (hsa04670) -5.740.047EGF, CLDN19, CLDN16
Hepatitis C (hsa05160) -5.680.004EGF, CLDN19, CLDN16
REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME termREACTOME term IDICNumber of genes with the same termGenes
Cell-cell junction organizationR-HSA-4212707.032CLDN19, CLDN16
Ion channel transportR-HSA-9837125.342TRPM6, FXYD2
Cell junction organizationR-HSA-4467286.512CLDN19, CLDN16
Transmembrane transport of small moleculesR-HSA-3825513.792TRPM6, FXYD2
Cell-Cell communicationR-HSA-15009315.872CLDN19, CLDN16
Tight junction interactionsR-HSA-4200298.082CLDN19, CLDN16

NET-GE enrichment

Term New enriched termICP valueGenes
Cell-Cell communication (R-HSA-1500931) -5.870.033EGF, CLDN19, CLDN16
Tight junction interactions (R-HSA-420029) -8.080.022CLDN19, CLDN16
Cell junction organization (R-HSA-446728) -6.510.007EGF, CLDN19, CLDN16
GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
binding (GO:0005488) 0.184EGF, TRPM6, CLDN19, CLDN16
protein binding (GO:0005515) 0.464EGF, TRPM6, CLDN19, CLDN16
substrate-specific transmembrane transporter activity (GO:0022891) 2.93FXYD2, TRPM6, CLDN16
inorganic cation transmembrane transporter activity (GO:0022890) 3.493FXYD2, CLDN16, TRPM6
substrate-specific transporter activity (GO:0022892) 2.723FXYD2, TRPM6, CLDN16
transporter activity (GO:0005215) 2.573FXYD2, CLDN16, TRPM6
cation transmembrane transporter activity (GO:0008324) 3.323FXYD2, CLDN16, TRPM6
ion transmembrane transporter activity (GO:0015075) 3.043FXYD2, TRPM6, CLDN16
catalytic activity (GO:0003824) 1.053EGF, TRPM6, FXYD2
transmembrane transporter activity (GO:0022857) 2.823FXYD2, CLDN16, TRPM6
metal ion transmembrane transporter activity (GO:0046873) 3.713FXYD2, CLDN16, TRPM6
cation binding (GO:0043169) 1.42EGF, TRPM6
molecular function regulator (GO:0098772) 2.512EGF, FXYD2
structural molecule activity (GO:0005198) 3.12CLDN19, CLDN16
phosphotransferase activity, alcohol group as acceptor (GO:0016773) 3.082EGF, TRPM6
transferase activity, transferring phosphorus-containing groups (GO:0016772) 2.772EGF, TRPM6
ion channel activity (GO:0005216) 3.712TRPM6, FXYD2
kinase activity (GO:0016301) 2.932EGF, TRPM6
divalent inorganic cation transmembrane transporter activity (GO:0072509) 4.622TRPM6, CLDN16
ion binding (GO:0043167) 1.362EGF, TRPM6
transferase activity (GO:0016740) 1.952EGF, TRPM6
channel activity (GO:0015267) 3.62TRPM6, FXYD2
substrate-specific channel activity (GO:0022838) 3.672TRPM6, FXYD2
protein kinase activity (GO:0004672) 3.272EGF, TRPM6
passive transmembrane transporter activity (GO:0022803) 3.62TRPM6, FXYD2
metal ion binding (GO:0046872) 1.412EGF, TRPM6
identical protein binding (GO:0042802) 2.632CLDN19, CLDN16

NET-GE enrichment

Term New enriched termICP valueGenes
inorganic cation transmembrane transporter activity (GO:0022890) -3.490.04EGF, FXYD2, CLDN16, TRPM6
metal ion transmembrane transporter activity (GO:0046873) -3.710.02EGF, FXYD2, CLDN16, TRPM6
divalent inorganic cation transmembrane transporter activity (GO:0072509) -4.620.022EGF, TRPM6, CLDN16
GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
cellular process (GO:0009987) 0.265CLDN19, FXYD2, CLDN16, EGF, TRPM6
establishment of localization (GO:0051234) 1.485EGF, FXYD2, CNNM2, TRPM6, CLDN16
biological regulation (GO:0065007) 0.395EGF, FXYD2, CLDN19, CNNM2, CLDN16
localization (GO:0051179) 1.45EGF, FXYD2, CNNM2, TRPM6, CLDN16
transport (GO:0006810) 1.515EGF, FXYD2, CLDN16, CNNM2, TRPM6
ion transport (GO:0006811) 2.664FXYD2, CLDN16, CNNM2, TRPM6
single-organism cellular process (GO:0044763) 0.654EGF, FXYD2, CLDN19, CLDN16
single-organism process (GO:0044699) 0.484EGF, FXYD2, CLDN16, CLDN19
cellular component assembly (GO:0022607) 2.143EGF, TRPM6, CLDN19
regulation of biological quality (GO:0065008) 1.683CLDN19, CNNM2, CLDN16
regulation of transport (GO:0051049) 2.243EGF, CLDN16, FXYD2
cellular component organization (GO:0016043) 1.243EGF, TRPM6, CLDN19
transmembrane transport (GO:0055085) 2.723FXYD2, TRPM6, CLDN16
regulation of metal ion transport (GO:0010959) 3.943EGF, FXYD2, CLDN16
single-organism transport (GO:0044765) 2.183EGF, FXYD2, CLDN16
multicellular organismal process (GO:0032501) 1.453EGF, CLDN19, CLDN16
metal ion transport (GO:0030001) 3.363TRPM6, CNNM2, FXYD2
regulation of ion transport (GO:0043269) 3.43EGF, CLDN16, FXYD2
cation transport (GO:0006812) 3.113TRPM6, CNNM2, FXYD2
single-organism localization (GO:1902578) 2.093EGF, FXYD2, CLDN16
regulation of localization (GO:0032879) 1.943EGF, CLDN16, FXYD2
regulation of biological process (GO:0050789) 0.453EGF, FXYD2, CLDN16
cellular component organization or biogenesis (GO:0071840) 1.223EGF, TRPM6, CLDN19
metabolic process (GO:0008152) 0.582EGF, TRPM6
macromolecular complex subunit organization (GO:0043933) 2.142EGF, TRPM6
phosphorylation (GO:0016310) 2.632EGF, TRPM6
ion homeostasis (GO:0050801) 3.422CLDN16, CNNM2
calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338) 6.682CLDN19, CLDN16
regulation of cellular component organization (GO:0051128) 2.012EGF, FXYD2
homeostatic process (GO:0042592) 2.612CLDN16, CNNM2
cell adhesion (GO:0007155) 2.822CLDN19, CLDN16
regulation of signaling (GO:0023051) 1.722EGF, FXYD2
inorganic ion homeostasis (GO:0098771) 3.432CLDN16, CNNM2
macromolecule metabolic process (GO:0043170) 0.832EGF, TRPM6
cellular protein metabolic process (GO:0044267) 1.632EGF, TRPM6
cellular macromolecule metabolic process (GO:0044260) 0.932EGF, TRPM6
macromolecular complex assembly (GO:0065003) 2.552EGF, TRPM6
organic substance metabolic process (GO:0071704) 0.632EGF, TRPM6
inorganic cation transmembrane transport (GO:0098662) 3.552TRPM6, FXYD2
inorganic ion transmembrane transport (GO:0098660) 3.382TRPM6, FXYD2
positive regulation of biological process (GO:0048518) 1.22EGF, CLDN16
regulation of molecular function (GO:0065009) 1.782EGF, FXYD2
biological adhesion (GO:0022610) 2.812CLDN19, CLDN16
regulation of cell proliferation (GO:0042127) 2.412EGF, FXYD2
protein phosphorylation (GO:0006468) 2.892EGF, TRPM6
positive regulation of transport (GO:0051050) 2.92EGF, CLDN16
cell-cell adhesion (GO:0098609) 3.342CLDN19, CLDN16
protein complex assembly (GO:0006461) 2.782EGF, TRPM6
cellular protein modification process (GO:0006464) 1.792EGF, TRPM6
regulation of cellular process (GO:0050794) 0.52EGF, FXYD2
ion transmembrane transport (GO:0034220) 3.082TRPM6, FXYD2
macromolecule modification (GO:0043412) 1.732EGF, TRPM6
protein modification process (GO:0036211) 1.792EGF, TRPM6
regulation of multicellular organismal process (GO:0051239) 1.872EGF, FXYD2
metal ion homeostasis (GO:0055065) 3.612CLDN16, CNNM2
cation homeostasis (GO:0055080) 3.462CLDN16, CNNM2
divalent metal ion transport (GO:0070838) 4.152TRPM6, CNNM2
cell-cell adhesion via plasma-membrane adhesion molecules (GO:0098742) 4.392CLDN19, CLDN16
system process (GO:0003008) 2.32CLDN19, CLDN16
primary metabolic process (GO:0044238) 0.692EGF, TRPM6
divalent inorganic cation transport (GO:0072511) 4.132TRPM6, CNNM2
protein complex subunit organization (GO:0071822) 2.62EGF, TRPM6
protein metabolic process (GO:0019538) 1.452EGF, TRPM6
response to stimulus (GO:0050896) 1.222TRPM6, CLDN19
regulation of calcium ion transport (GO:0051924) 4.382EGF, CLDN16
cellular metabolic process (GO:0044237) 0.692EGF, TRPM6
chemical homeostasis (GO:0048878) 2.972CLDN16, CNNM2
phosphate-containing compound metabolic process (GO:0006796) 2.162EGF, TRPM6
phosphorus metabolic process (GO:0006793) 2.152EGF, TRPM6
cation transmembrane transport (GO:0098655) 3.432TRPM6, FXYD2

NET-GE enrichment

Term New enriched termICP valueGenes
neuronal action potential propagation (GO:0019227) NEW7.650.014CLDN19, CLDN16
divalent metal ion transport (GO:0070838) -4.150.017EGF, TRPM6, CNNM2, CLDN16
cation transport (GO:0006812) -3.110.023FXYD2, CNNM2, TRPM6, CLDN16
ion transport (GO:0006811) -2.660.017FXYD2, CLDN19, EGF, CLDN16, CNNM2, TRPM6
calcium-independent cell-cell adhesion (GO:0016338) -6.680.007CLDN19, CLDN16
magnesium ion transport (GO:0015693) NEW7.090.004CLDN16, CNNM2
metal ion transport (GO:0030001) -3.360.006EGF, FXYD2, CNNM2, TRPM6, CLDN16
divalent inorganic cation transport (GO:0072511) -4.130.018EGF, TRPM6, CNNM2, CLDN16
GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GOICNumber of genes with the same GOGenes
integral component of membrane (GO:0016021) 1.146FXYD2, CLDN19, EGF, CLDN16, CNNM2, TRPM6
membrane (GO:0016020) 0.686FXYD2, CLDN19, EGF, CLDN16, CNNM2, TRPM6
cell part (GO:0044464) 0.116FXYD2, CLDN19, EGF, CLDN16, CNNM2, TRPM6
plasma membrane (GO:0005886) 1.396FXYD2, CLDN19, EGF, CLDN16, CNNM2, TRPM6
membrane part (GO:0044425) 0.956FXYD2, CLDN19, EGF, CLDN16, CNNM2, TRPM6
intrinsic component of membrane (GO:0031224) 1.136FXYD2, CLDN19, EGF, CLDN16, CNNM2, TRPM6
plasma membrane region (GO:0098590) 2.974FXYD2, TRPM6, CNNM2, CLDN19
plasma membrane part (GO:0044459) 1.954CLDN19, FXYD2, CNNM2, TRPM6
intracellular part (GO:0044424) 0.283EGF, CLDN19, FXYD2
membrane-bounded organelle (GO:0043227) 0.473EGF, CLDN19, FXYD2
organelle (GO:0043226) 0.43EGF, CLDN19, FXYD2
basolateral plasma membrane (GO:0016323) 4.563FXYD2, CNNM2, CLDN19
protein complex (GO:0043234) 1.512EGF, FXYD2
macromolecular complex (GO:0032991) 1.352EGF, FXYD2
vesicle (GO:0031982) 1.642EGF, FXYD2
extracellular region part (GO:0044421) 1.572EGF, FXYD2
extracellular exosome (GO:0070062) 1.892EGF, FXYD2
occluding junction (GO:0070160) 5.072CLDN19, CLDN16
membrane-bounded vesicle (GO:0031988) 1.712EGF, FXYD2
intracellular organelle (GO:0043229) 0.512CLDN19, FXYD2
cell-cell junction (GO:0005911) 3.852CLDN19, CLDN16
extracellular organelle (GO:0043230) 1.892EGF, FXYD2
extracellular vesicle (GO:1903561) 1.892EGF, FXYD2
bicellular tight junction (GO:0005923) 5.092CLDN19, CLDN16
cell junction (GO:0030054) 2.752CLDN19, CLDN16
intracellular membrane-bounded organelle (GO:0043231) 0.62CLDN19, FXYD2

NET-GE enrichment

Term New enriched termICP valueGenes
plasma membrane region (GO:0098590) -2.970.0FXYD2, CLDN19, EGF, CLDN16, CNNM2, TRPM6
occluding junction (GO:0070160) -5.070.028EGF, CLDN19, CLDN16
membrane region (GO:0098589) NEW3.950.019FXYD2, CLDN19, EGF, CLDN16, CNNM2, TRPM6
basolateral plasma membrane (GO:0016323) -4.560.001CLDN19, CNNM2, FXYD2, CLDN16
apical junction complex (GO:0043296) NEW7.40.002CLDN19, CLDN16
tight junction (GO:0005923) -5.090.028EGF, CLDN19, CLDN16