abnormal lactate dehydrogenase level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description abnormal level of the tetrameric enzyme that, along with the coenzyme NAD+, catalyzes the interconversion of lactate and pyruvate (Mammalian Phenotype Ontology, MP_0002943)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002943
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Genes

31 gene mutations causing the abnormal lactate dehydrogenase level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BBC3 BCL2 binding component 3
BBS4 Bardet-Biedl syndrome 4
BCR breakpoint cluster region
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CPB2 carboxypeptidase B2 (plasma)
CTH cystathionine gamma-lyase
DFNB31 deafness, autosomal recessive 31
ELK4 ELK4, ETS-domain protein (SRF accessory protein 1)
FPGS folylpolyglutamate synthase
GPRC5C G protein-coupled receptor, class C, group 5, member C
HYAL2 hyaluronoglucosaminidase 2
LDHA lactate dehydrogenase A
LYZ lysozyme
NFE2L2 nuclear factor, erythroid 2-like 2
NLRP1 NLR family, pyrin domain containing 1
NLRP3 NLR family, pyrin domain containing 3
PCMT1 protein-L-isoaspartate (D-aspartate) O-methyltransferase
PFKM phosphofructokinase, muscle
PILRA paired immunoglobin-like type 2 receptor alpha
PRDX1 peroxiredoxin 1
PRF1 perforin 1 (pore forming protein)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RAB27A RAB27A, member RAS oncogene family
RNF7 ring finger protein 7
SEPT8 septin 8
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC5A10 solute carrier family 5 (sodium/sugar cotransporter), member 10
STX11 syntaxin 11
UACA uveal autoantigen with coiled-coil domains and ankyrin repeats
UNC93B1 unc-93 homolog B1 (C. elegans)