Nephrocalcinosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0027709
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Genes

112 genes associated with the disease Nephrocalcinosis in GWAS and other genetic association datasets from the DisGeNET 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
ALPP alkaline phosphatase, placental
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ANXA2 annexin A2
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ASRGL1 asparaginase like 1
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
ATRNL1 attractin-like 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BRD4 bromodomain containing 4
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTNL2 butyrophilin-like 2
CA2 carbonic anhydrase II
CASR calcium-sensing receptor
CCL27 chemokine (C-C motif) ligand 27
CD44 CD44 molecule (Indian blood group)
CDC73 cell division cycle 73
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CLCN5 chloride channel, voltage-sensitive 5
CLCNKB chloride channel, voltage-sensitive Kb
CLDN10 claudin 10
CLDN16 claudin 16
CLDN19 claudin 19
CLIP2 CAP-GLY domain containing linker protein 2
CLPB ClpB homolog, mitochondrial AAA ATPase chaperonin
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COX2
CST3 cystatin C
CYLD cylindromatosis (turban tumor syndrome)
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DCT dopachrome tautomerase
DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21
ELN elastin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM20A family with sequence similarity 20, member A
FBN1 fibrillin 1
FGL1 fibrinogen-like 1
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GATA3 GATA binding protein 3
GCM2 glial cells missing homolog 2 (Drosophila)
GH1 growth hormone 1
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GRHPR glyoxylate reductase/hydroxypyruvate reductase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HNF4A hepatocyte nuclear factor 4, alpha
HOGA1 4-hydroxy-2-oxoglutarate aldolase 1
HPS1 Hermansky-Pudlak syndrome 1
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
IGF2 insulin-like growth factor 2
IHH indian hedgehog
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
LGI1 leucine-rich, glioma inactivated 1
LIMK1 LIM domain kinase 1
LRP2 low density lipoprotein receptor-related protein 2
MAP1LC3B microtubule-associated protein 1 light chain 3 beta
MEFV Mediterranean fever
MEN1 multiple endocrine neoplasia I
MRGPRF MAS-related GPR, member F
MYO5B myosin VB
NAT10 N-acetyltransferase 10 (GCN5-related)
NLRP3 NLR family, pyrin domain containing 3
OCRL oculocerebrorenal syndrome of Lowe
PDLIM3 PDZ and LIM domain 3
PEX3 peroxisomal biogenesis factor 3
PHEX phosphate regulating endopeptidase homolog, X-linked
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
POMC proopiomelanocortin
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH parathyroid hormone
PTH1R parathyroid hormone 1 receptor
PYCARD PYD and CARD domain containing
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5
RBFOX2 RNA binding protein, fox-1 homolog (C. elegans) 2
RFC2 replication factor C (activator 1) 2, 40kDa
SBDS Shwachman-Bodian-Diamond syndrome
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A3 solute carrier family 12 (sodium/chloride transporter), member 3
SLC26A1 solute carrier family 26 (anion exchanger), member 1
SLC26A3 solute carrier family 26 (anion exchanger), 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
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC5A1 solute carrier family 5 (sodium/glucose cotransporter), member 1
SLPI secretory leukocyte peptidase inhibitor
SPP1 secreted phosphoprotein 1
SRP54 signal recognition particle 54kDa
STS steroid sulfatase (microsomal), isozyme S
STX3 syntaxin 3
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TLR4 toll-like receptor 4
TNMD tenomodulin
TRPM6 transient receptor potential cation channel, subfamily M, member 6
TRPV5 transient receptor potential cation channel, subfamily V, member 5
TRPV6 transient receptor potential cation channel, subfamily V, member 6
TWNK twinkle mtDNA helicase
VAX2 ventral anterior homeobox 2
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)