abnormal glomerular capillary morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the small branching blood vessels in the kidney glomerulus that receives blood from the kidney afferent arterioles; these capillaries are under high pressure for filtering within the glomerulus (Mammalian Phenotype Ontology, MP_0011320)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011320
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Genes

38 gene mutations causing the abnormal glomerular capillary morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACTN4 actinin, alpha 4
APOE apolipoprotein E
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
BCAM basal cell adhesion molecule (Lutheran blood group)
BCL2 B-cell CLL/lymphoma 2
BDKRB2 bradykinin receptor B2
CD151 CD151 molecule (Raph blood group)
CLU clusterin
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A5 collagen, type IV, alpha 5
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
FAS Fas cell surface death receptor
FBLN1 fibulin 1
FOXC2 forkhead box C2
FRAS1 Fraser extracellular matrix complex subunit 1
GDNF glial cell derived neurotrophic factor
GOLM1 golgi membrane protein 1
INS insulin
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
LAMA5 laminin, alpha 5
LMX1B LIM homeobox transcription factor 1, beta
MARK2 MAP/microtubule affinity-regulating kinase 2
MGP matrix Gla protein
MPV17 MpV17 mitochondrial inner membrane protein
MYO1E myosin IE
NFE2L2 nuclear factor, erythroid 2-like 2
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH2 notch 2
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
TCF21 transcription factor 21
TRAF3IP2 TRAF3 interacting protein 2
TUSC2 tumor suppressor candidate 2
VEGFA vascular endothelial growth factor A
WT1 Wilms tumor 1