abnormal liver sinusoid morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the hepatic distensible vascular blood channels lined with highly fenestrated endothelial cells that function to exchange fluids, nutrients, proteins and wastes (Mammalian Phenotype Ontology, MP_0008989)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008989
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39 gene mutations causing the abnormal liver sinusoid morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACVRL1 activin A receptor type II-like 1
AHR aryl hydrocarbon receptor
ARSG arylsulfatase G
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
FOXM1 forkhead box M1
FOXP3 forkhead box P3
GLMP glycosylated lysosomal membrane protein
GNMT glycine N-methyltransferase
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HSPG2 heparan sulfate proteoglycan 2
JAK1 Janus kinase 1
JARID2 jumonji, AT rich interactive domain 2
LIPA lipase A, lysosomal acid, cholesterol esterase
MAN2B1 mannosidase, alpha, class 2B, member 1
MANBA mannosidase, beta A, lysosomal
MAP2K4 mitogen-activated protein kinase kinase 4
MED1 mediator complex subunit 1
MET MET proto-oncogene, receptor tyrosine kinase
MPV17 MpV17 mitochondrial inner membrane protein
MTF1 metal-regulatory transcription factor 1
MYB v-myb avian myeloblastosis viral oncogene homolog
NAGLU N-acetylglucosaminidase, alpha
NEU1 sialidase 1 (lysosomal sialidase)
NGFR nerve growth factor receptor
NOTCH1 notch 1
NR1H4 nuclear receptor subfamily 1, group H, member 4
PRKAG1 protein kinase, AMP-activated, gamma 1 non-catalytic subunit
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RB1 retinoblastoma 1
RFX5 regulatory factor X, 5 (influences HLA class II expression)
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SPTA1 spectrin, alpha, erythrocytic 1
UACA uveal autoantigen with coiled-coil domains and ankyrin repeats
ZDHHC13 zinc finger, DHHC-type containing 13