abnormal circulating aspartate transaminase 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 the 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 (Mammalian Phenotype Ontology, MP_0000203)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000203
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Genes

76 gene mutations causing the abnormal 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
AGO1 argonaute RISC catalytic component 1
ANK1 ankyrin 1, erythrocytic
AP3S2 adaptor-related protein complex 3, sigma 2 subunit
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ASL argininosuccinate lyase
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
CELSR1 cadherin, EGF LAG seven-pass G-type receptor 1
CHD7 chromodomain helicase DNA binding protein 7
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
DBN1 drebrin 1
DLG4 discs, large homolog 4 (Drosophila)
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
G0S2 G0/G1 switch 2
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)
LDHA lactate dehydrogenase A
LIF leukemia inhibitory factor
LRIG1 leucine-rich repeats and immunoglobulin-like domains 1
MPV17 MpV17 mitochondrial inner membrane protein
MYD88 myeloid differentiation primary response 88
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NOS2 nitric oxide synthase 2, inducible
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
NR2C2 nuclear receptor subfamily 2, group C, member 2
OMA1 OMA1 zinc metallopeptidase
PEX3 peroxisomal biogenesis factor 3
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
SLC25A21 solute carrier family 25 (mitochondrial oxoadipate carrier), member 21
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
TRIM27 tripartite motif containing 27
UACA uveal autoantigen with coiled-coil domains and ankyrin repeats
UNC93B1 unc-93 homolog B1 (C. elegans)
WWOX WW domain containing oxidoreductase
ZBTB20 zinc finger and BTB domain containing 20
ZDHHC13 zinc finger, DHHC-type containing 13
ZMPSTE24 zinc metallopeptidase STE24