abnormal glomerular capsule visceral layer morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the inner layer of the glomerular capsule surrounding the capillary endothelial cells and composed of highly specialized epithelial cells (podocytes) that are separated by filtration slits; the visceral layer is separated from the outer parietal layer by the urinary space (also known as the Bowman's or capsular space) (Mammalian Phenotype Ontology, MP_0011497)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011497
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Genes

49 gene mutations causing the abnormal glomerular capsule visceral layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACTN4 actinin, alpha 4
ADIPOQ adiponectin, C1Q and collagen domain containing
AMPD2 adenosine monophosphate deaminase 2
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
BCL2 B-cell CLL/lymphoma 2
CCNI cyclin I
CCR2 chemokine (C-C motif) receptor 2
CD151 CD151 molecule (Raph blood group)
CD2AP CD2-associated protein
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
COL18A1 collagen, type XVIII, alpha 1
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A5 collagen, type IV, alpha 5
CRIM1 cysteine rich transmembrane BMP regulator 1 (chordin-like)
DDR1 discoidin domain receptor tyrosine kinase 1
FAS Fas cell surface death receptor
FAT1 FAT atypical cadherin 1
FBLN1 fibulin 1
FOXC2 forkhead box C2
GDNF glial cell derived neurotrophic factor
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GRM1 glutamate receptor, metabotropic 1
GSTK1 glutathione S-transferase kappa 1
HPRT1 hypoxanthine phosphoribosyltransferase 1
ITGA1 integrin, alpha 1
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
LAMA5 laminin, alpha 5
LAMB2 laminin, beta 2 (laminin S)
LEP leptin
LMX1B LIM homeobox transcription factor 1, beta
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MPV17 MpV17 mitochondrial inner membrane protein
MYH9 myosin, heavy chain 9, non-muscle
MYO1E myosin IE
NAGLU N-acetylglucosaminidase, alpha
NOTCH2 notch 2
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PEX13 peroxisomal biogenesis factor 13
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PODXL podocalyxin-like
PPT1 palmitoyl-protein thioesterase 1
PTPRO protein tyrosine phosphatase, receptor type, O
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
TAL1 T-cell acute lymphocytic leukemia 1
TCF21 transcription factor 21
WT1 Wilms tumor 1