acidosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal acid accumulation or depletion of base. (Human Phenotype Ontology, HP_0001941)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003031
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Genes

22 gene mutations causing the acidosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATP6V0A4 ATPase, H+ transporting, lysosomal V0 subunit a4
ATP6V1B1 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
CA2 carbonic anhydrase II
EDN2 endothelin 2
ERCC1 excision repair cross-complementation group 1
FOXI1 forkhead box I1
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
NOS1 nitric oxide synthase 1 (neuronal)
OXCT1 3-oxoacid CoA transferase 1
REN renin
RHCG Rh family, C glycoprotein
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7
SLC26A7 solute carrier family 26 (anion exchanger), member 7
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC4A5 solute carrier family 4 (sodium bicarbonate cotransporter), member 5
SLC9A3 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3
SOD2 superoxide dismutase 2, mitochondrial
TMEM38B transmembrane protein 38B
WNK4 WNK lysine deficient protein kinase 4