abnormal renal glomerulus basement membrane morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the layer of extracellular matrix that lies between the endothelium of the glomerular capillaries and the podocytes of the inner or visceral layer of the Bowman capsule; it is a fusion of the endothelial cell and podocyte basal laminas and acts as a physical barrier and an ion-selective filter (Mammalian Phenotype Ontology, MP_0011348)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011348
Similar Terms
Downloads & Tools

Genes

33 gene mutations causing the abnormal renal glomerulus basement membrane morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACTN4 actinin, alpha 4
AGER advanced glycosylation end product-specific receptor
ASIP agouti signaling protein
BCL2L11 BCL2-like 11 (apoptosis facilitator)
CD151 CD151 molecule (Raph blood group)
CFH complement factor H
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
E2F2 E2F transcription factor 2
FAS Fas cell surface death receptor
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
INS insulin
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
MTSS1 metastasis suppressor 1
MYO1E myosin IE
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PKN1 protein kinase N1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SMAD3 SMAD family member 3
SYK spleen tyrosine kinase
VEGFA vascular endothelial growth factor A
WT1 Wilms tumor 1
Funding