increased circulating aspartate transaminase level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description greater than normal concentration in the blood of this enzyme, which catalyzes the reversible transfer of an amine group from l-glutamic acid to oxaloacetic acid, forming alpha-ketoglutaric acid and l-aspartic acid; aids in diagnosis of viral hepatitis and myocardial infarction (Mammalian Phenotype Ontology, MP_0005343)
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59 gene mutations causing the increased circulating aspartate transaminase level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
ANK1 ankyrin 1, erythrocytic
AP3S2 adaptor-related protein complex 3, sigma 2 subunit
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
BBS5 Bardet-Biedl syndrome 5
BCR breakpoint cluster region
BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1
CD33 CD33 molecule
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CISD2 CDGSH iron sulfur domain 2
CLEC4G C-type lectin domain family 4, member G
CRH corticotropin releasing hormone
CTH cystathionine gamma-lyase
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
DNM1L dynamin 1-like
ELK4 ELK4, ETS-domain protein (SRF accessory protein 1)
ELMOD1 ELMO/CED-12 domain containing 1
EPB41 erythrocyte membrane protein band 4.1
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FPGS folylpolyglutamate synthase
GALC galactosylceramidase
GLMP glycosylated lysosomal membrane protein
GSTA4 glutathione S-transferase alpha 4
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HNF1A HNF1 homeobox A
HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)
IL22 interleukin 22
IL6R interleukin 6 receptor
INHBB inhibin, beta B
IQGAP2 IQ motif containing GTPase activating protein 2
KPNA1 karyopherin alpha 1 (importin alpha 5)
LIF leukemia inhibitory factor
MPV17 MpV17 mitochondrial inner membrane protein
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR1H4 nuclear receptor subfamily 1, group H, member 4
OMA1 OMA1 zinc metallopeptidase
PHF20 PHD finger protein 20
PI4K2A phosphatidylinositol 4-kinase type 2 alpha
PITPNA phosphatidylinositol transfer protein, alpha
PPARG peroxisome proliferator-activated receptor gamma
PRF1 perforin 1 (pore forming protein)
RAB27A RAB27A, member RAS oncogene family
RDX radixin
RHBDD3 rhomboid domain containing 3
RNF7 ring finger protein 7
SEPT8 septin 8
SLC38A10 solute carrier family 38, member 10
SLC5A10 solute carrier family 5 (sodium/sugar cotransporter), member 10
SOD2 superoxide dismutase 2, mitochondrial
SRXN1 sulfiredoxin 1
STX11 syntaxin 11
UACA uveal autoantigen with coiled-coil domains and ankyrin repeats
UNC93B1 unc-93 homolog B1 (C. elegans)
ZBTB20 zinc finger and BTB domain containing 20
ZDHHC13 zinc finger, DHHC-type containing 13
ZMPSTE24 zinc metallopeptidase STE24