nephrocalcinosis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000121
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Genes

37 genes associated with the nephrocalcinosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
AGXT alanine-glyoxylate aminotransferase
ALMS1 Alstrom syndrome protein 1
ALPL alkaline phosphatase, liver/bone/kidney
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CASR calcium-sensing receptor
CLCN5 chloride channel, voltage-sensitive 5
CLDN16 claudin 16
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
ELN elastin
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM20A family with sequence similarity 20, member A
FGF23 fibroblast growth factor 23
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KL klotho
LIMK1 LIM domain kinase 1
MEFV Mediterranean fever
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
SBDS Shwachman-Bodian-Diamond syndrome
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SRCAP Snf2-related CREBBP activator protein
STRADA STE20-related kinase adaptor alpha
TBL2 transducin (beta)-like 2
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDR34 WD repeat domain 34