abnormal phospholipid level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomalous concentration of the fat derivatives in which one fatty acid has been replaced by a phosphate group (Mammalian Phenotype Ontology, MP_0004777)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004777
Similar Terms
Downloads & Tools

Genes

41 gene mutations causing the abnormal phospholipid level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABHD12 abhydrolase domain containing 12
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
APOA1 apolipoprotein A-I
APOE apolipoprotein E
BHMT betaine--homocysteine S-methyltransferase
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
DGAT2 diacylglycerol O-acyltransferase 2
ELOVL1 ELOVL fatty acid elongase 1
GALC galactosylceramidase
LCAT lecithin-cholesterol acyltransferase
LIPC lipase, hepatic
LIPG lipase, endothelial
LPCAT1 lysophosphatidylcholine acyltransferase 1
LPIN1 lipin 1
LPL lipoprotein lipase
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP3 nephronophthisis 3 (adolescent)
NR1H4 nuclear receptor subfamily 1, group H, member 4
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OSBPL8 oxysterol binding protein-like 8
PCTP phosphatidylcholine transfer protein
PEX1 peroxisomal biogenesis factor 1
PLA2G3 phospholipase A2, group III
PLP1 proteolipid protein 1
PLTP phospholipid transfer protein
PPAP2B phosphatidic acid phosphatase type 2B
PTDSS1 phosphatidylserine synthase 1
RGN regucalcin
SAA1 serum amyloid A1
SCARB1 scavenger receptor class B, member 1
SFTPA1 surfactant protein A1
SGMS2 sphingomyelin synthase 2
SIK3 SIK family kinase 3
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
STARD10 StAR-related lipid transfer (START) domain containing 10
TXNIP thioredoxin interacting protein