abnormality of cation homeostasis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of cation homeostasis. (Human Phenotype Ontology, HP_0010929)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010929
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Genes

155 genes associated with the abnormality of cation homeostasis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AIP aryl hydrocarbon receptor interacting protein
ALPL alkaline phosphatase, liver/bone/kidney
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
AQP2 aquaporin 2 (collecting duct)
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATP7B ATPase, Cu++ transporting, beta polypeptide
AVPR2 arginine vasopressin receptor 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BMPR1A bone morphogenetic protein receptor, type IA
BSND barttin CLCNK-type chloride channel accessory beta subunit
CA12 carbonic anhydrase XII
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAMKMT calmodulin-lysine N-methyltransferase
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CCBE1 collagen and calcium binding EGF domains 1
CDC73 cell division cycle 73
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
CLDN16 claudin 16
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
COL10A1 collagen, type X, alpha 1
COL3A1 collagen, type III, alpha 1
COMT catechol-O-methyltransferase
COX1
COX2
COX3
CP ceruloplasmin (ferroxidase)
CPOX coproporphyrinogen oxidase
CTNS cystinosin, lysosomal cystine transporter
CUL3 cullin 3
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DSG1 desmoglein 1
EGF epidermal growth factor
ELN elastin
FAM111A family with sequence similarity 111, member A
FAT4 FAT atypical cadherin 4
FGFR1 fibroblast growth factor receptor 1
FTH1 ferritin, heavy polypeptide 1
FTL ferritin, light polypeptide
FXYD2 FXYD domain containing ion transport regulator 2
GATA3 GATA binding protein 3
GCM2 glial cells missing homolog 2 (Drosophila)
GLRX5 glutaredoxin 5
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAS GNAS complex locus
GNAS-AS1 GNAS antisense RNA 1
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HAMP hepcidin antimicrobial peptide
HBB hemoglobin, beta
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HIRA histone cell cycle regulator
HMBS hydroxymethylbilane synthase
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
IFT122 intraflagellar transport 122
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INVS inversin
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KIF1B kinesin family member 1B
KLHL3 kelch-like family member 3
LIMK1 LIM domain kinase 1
LPIN1 lipin 1
MEN1 multiple endocrine neoplasia I
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
ND1
NOTCH3 notch 3
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR3C2 nuclear receptor subfamily 3, group C, member 2
OCRL oculocerebrorenal syndrome of Lowe
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PIEZO1 piezo-type mechanosensitive ion channel component 1
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PREPL prolyl endopeptidase-like
PRF1 perforin 1 (pore forming protein)
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PUS1 pseudouridylate synthase 1
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RYR1 ryanodine receptor 1 (skeletal)
SARS2 seryl-tRNA synthetase 2, mitochondrial
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC25A38 solute carrier family 25, member 38
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC30A2 solute carrier family 30 (zinc transporter), member 2
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SMAD4 SMAD family member 4
SNX10 sorting nexin 10
STEAP3 STEAP family member 3, metalloreductase
STOM stomatin
STX11 syntaxin 11
STX16 syntaxin 16
STXBP2 syntaxin binding protein 2
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TFR2 transferrin receptor 2
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TTC37 tetratricopeptide repeat domain 37
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WNK1 WNK lysine deficient protein kinase 1
WNK4 WNK lysine deficient protein kinase 4
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase