abnormal circulating chloride level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description aberrant concentration of chlorine salts in the circulation (Mammalian Phenotype Ontology, MP_0003018)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003018
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Genes

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

Symbol Name
ACSBG2 acyl-CoA synthetase bubblegum family member 2
ADGRB1 adhesion G protein-coupled receptor B1
ALDH16A1 aldehyde dehydrogenase 16 family, member A1
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
AVPR2 arginine vasopressin receptor 2
BBS5 Bardet-Biedl syndrome 5
BSND barttin CLCNK-type chloride channel accessory beta subunit
C1ORF198 chromosome 1 open reading frame 198
CBX6 chromobox homolog 6
CUL7 cullin 7
CYP11B1 cytochrome P450, family 11, subfamily B, 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
ELMOD1 ELMO/CED-12 domain containing 1
FARSA phenylalanyl-tRNA synthetase, alpha subunit
FHL1 four and a half LIM domains 1
GAR1 GAR1 ribonucleoprotein
GHR growth hormone receptor
GIMAP6 GTPase, IMAP family member 6
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
IFT20 intraflagellar transport 20
KCNJ16 potassium channel, inwardly rectifying subfamily J, member 16
LOC102723475 putative uncharacterized protein LOC388820
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MTA1 metastasis associated 1
MYO6 myosin VI
MYSM1 Myb-like, SWIRM and MPN domains 1
OXGR1 oxoglutarate (alpha-ketoglutarate) receptor 1
RNASE10 ribonuclease, RNase A family, 10 (non-active)
SCNN1B sodium channel, non voltage gated 1 beta subunit
SERF1A small EDRK-rich factor 1A (telomeric)
SETMAR SET domain and mariner transposase fusion gene
SIRT2 sirtuin 2
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
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
STARD8 StAR-related lipid transfer (START) domain containing 8
USH1C Usher syndrome 1C (autosomal recessive, severe)
WNK4 WNK lysine deficient protein kinase 4
WWOX WW domain containing oxidoreductase
XYLB xylulokinase homolog (H. influenzae)