abnormality of urine calcium concentration Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of calcium concentration in the urine (FMA:12274). (Human Phenotype Ontology, HP_0011280)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011280
Similar Terms
Downloads & Tools

Genes

44 genes associated with the abnormality of urine calcium concentration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALPL alkaline phosphatase, liver/bone/kidney
AP2S1 adaptor-related protein complex 2, sigma 1 subunit
ATP7B ATPase, Cu++ transporting, beta polypeptide
BAZ1B bromodomain adjacent to zinc finger domain, 1B
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
CLCNKB chloride channel, voltage-sensitive Kb
CLDN16 claudin 16
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
COX1
COX2
COX3
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
ELN elastin
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 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
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
ND1
OCRL oculocerebrorenal syndrome of Lowe
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PTH1R parathyroid hormone 1 receptor
RFC2 replication factor C (activator 1) 2, 40kDa
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
TBL2 transducin (beta)-like 2