abnormal circulating sodium level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the concentration in the blood of sodium, the most plentiful extracellular ion in the body and the principal determinant of extracellular fluid volume (Mammalian Phenotype Ontology, MP_0001776)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001776
Similar Terms
Downloads & Tools

Genes

53 gene mutations causing the abnormal circulating sodium level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACP2 acid phosphatase 2, lysosomal
ACSBG2 acyl-CoA synthetase bubblegum family member 2
ALDH16A1 aldehyde dehydrogenase 16 family, member A1
AVPR2 arginine vasopressin receptor 2
BBS4 Bardet-Biedl syndrome 4
BRPF1 bromodomain and PHD finger containing, 1
BSND barttin CLCNK-type chloride channel accessory beta subunit
BTK Bruton agammaglobulinemia tyrosine kinase
C1ORF198 chromosome 1 open reading frame 198
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CBX6 chromobox homolog 6
CD200 CD200 molecule
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
DBN1 drebrin 1
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNASE2B deoxyribonuclease II beta
DUSP4 dual specificity phosphatase 4
FAM53B family with sequence similarity 53, member B
FARSA phenylalanyl-tRNA synthetase, alpha subunit
FHL1 four and a half LIM domains 1
GAR1 GAR1 ribonucleoprotein
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GUCA2B guanylate cyclase activator 2B (uroguanylin)
HSPA4L heat shock 70kDa protein 4-like
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
LOC102723475 putative uncharacterized protein LOC388820
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MOCS2 molybdenum cofactor synthesis 2
MTA1 metastasis associated 1
MYO7A myosin VIIA
NACAD NAC alpha domain containing
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NR3C2 nuclear receptor subfamily 3, group C, member 2
PER2 period circadian clock 2
RPE65 retinal pigment epithelium-specific protein 65kDa
RXFP2 relaxin/insulin-like family peptide receptor 2
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SIRT2 sirtuin 2
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SMYD2 SET and MYND domain containing 2
SYTL1 synaptotagmin-like 1
TMEM27 transmembrane protein 27
TXNIP thioredoxin interacting protein
USH1C Usher syndrome 1C (autosomal recessive, severe)
WNK1 WNK lysine deficient protein kinase 1
WTAP Wilms tumor 1 associated protein
WWOX WW domain containing oxidoreductase