Gitelman Syndrome Gene Set
Genes
25 genes associated with the disease Gitelman Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACTB
|
actin, beta
|
|
AGT
|
angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
|
|
ARHGEF25
|
Rho guanine nucleotide exchange factor (GEF) 25
|
|
BEST1
|
bestrophin 1
|
|
CABIN1
|
calcineurin binding protein 1
|
|
CASR
|
calcium-sensing receptor
|
|
CLCNKB
|
chloride channel, voltage-sensitive Kb
|
|
DBP
|
D site of albumin promoter (albumin D-box) binding protein
|
|
DMD
|
dystrophin
|
|
KCNJ1
|
potassium channel, inwardly rectifying subfamily J, member 1
|
|
NOS3
|
nitric oxide synthase 3 (endothelial cell)
|
|
PPP1R12A
|
protein phosphatase 1, regulatory subunit 12A
|
|
PTGS2
|
prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
|
|
PTH
|
parathyroid hormone
|
|
PVALB
|
parvalbumin
|
|
REN
|
renin
|
|
RGS2
|
regulator of G-protein signaling 2
|
|
SCN5A
|
sodium channel, voltage gated, type V alpha subunit
|
|
SLC12A1
|
solute carrier family 12 (sodium/potassium/chloride transporter), member 1
|
|
SLC12A3
|
solute carrier family 12 (sodium/chloride transporter), member 3
|
|
STK39
|
serine threonine kinase 39
|
|
TESC
|
tescalcin
|
|
TRPV5
|
transient receptor potential cation channel, subfamily V, member 5
|
|
TSC1
|
tuberous sclerosis 1
|
|
WNK4
|
WNK lysine deficient protein kinase 4
|
