abnormal urinary electrolyte concentration Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012591
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Genes

76 genes associated with the abnormal urinary electrolyte concentration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALDOB aldolase B, fructose-bisphosphate
ALPL alkaline phosphatase, liver/bone/kidney
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
ATP7B ATPase, Cu++ transporting, beta polypeptide
AVPR2 arginine vasopressin receptor 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BSND barttin CLCNK-type chloride channel accessory beta subunit
CASR calcium-sensing receptor
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CLCN5 chloride channel, voltage-sensitive 5
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
COA5 cytochrome c oxidase assembly factor 5
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
EHHADH enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
ELN elastin
FASTKD2 FAST kinase domains 2
FGF23 fibroblast growth factor 23
FXYD2 FXYD domain containing ion transport regulator 2
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HRAS Harvey rat sarcoma viral oncogene homolog
IFT122 intraflagellar transport 122
INPPL1 inositol polyphosphate phosphatase-like 1
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
KRAS Kirsten rat sarcoma viral oncogene homolog
LIMK1 LIM domain kinase 1
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
MUC1 mucin 1, cell surface associated
ND1
NR0B1 nuclear receptor subfamily 0, group B, member 1
OCRL oculocerebrorenal syndrome of Lowe
PET100 PET100 homolog (S. cerevisiae)
PHEX phosphate regulating endopeptidase homolog, X-linked
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PTH1R parathyroid hormone 1 receptor
RFC2 replication factor C (activator 1) 2, 40kDa
SARS2 seryl-tRNA synthetase 2, mitochondrial
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
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
STAR steroidogenic acute regulatory protein
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TBL2 transducin (beta)-like 2