abnormal kupffer cell morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the phagocytic macrophages residing on the luminal surface of the hepatic sinusoids (Mammalian Phenotype Ontology, MP_0008114)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008114
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Genes

17 gene mutations causing the abnormal kupffer cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CCR1 chemokine (C-C motif) receptor 1
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CP ceruloplasmin (ferroxidase)
CSF1 colony stimulating factor 1 (macrophage)
CTBS chitobiase, di-N-acetyl-
ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5
GLMP glycosylated lysosomal membrane protein
LIPA lipase A, lysosomal acid, cholesterol esterase
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
NAGLU N-acetylglucosaminidase, alpha
NEU1 sialidase 1 (lysosomal sialidase)
NGFR nerve growth factor receptor
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
RFX5 regulatory factor X, 5 (influences HLA class II expression)
UACA uveal autoantigen with coiled-coil domains and ankyrin repeats
ZDHHC13 zinc finger, DHHC-type containing 13