Renal Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral (see these terms), segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia. (Orphanet Rare Disease Ontology, Orphanet_93108)
External Link https://www.disgenet.org/browser/0/1/0/C3275898
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Genes

94 genes associated with the disease Renal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
APC adenomatous polyposis coli
ARX aristaless related homeobox
BICC1 BicC family RNA binding protein 1
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
BNC2 basonuclin 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
C5ORF42 chromosome 5 open reading frame 42
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CDCA8 cell division cycle associated 8
CDKL5 cyclin-dependent kinase-like 5
CEP55 centrosomal protein 55kDa
CITED1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1
COQ7 coenzyme Q7 homolog, ubiquinone (yeast)
CSPP1 centrosome and spindle pole associated protein 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DACH1 dachshund family transcription factor 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EXOC3L2 exocyst complex component 3-like 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FIBP fibroblast growth factor (acidic) intracellular binding protein
FKRP fukutin related protein
FKTN fukutin
GATA3 GATA binding protein 3
GLI3 GLI family zinc finger 3
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GPC3 glypican 3
GREB1L growth regulation by estrogen in breast cancer-like
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
IFNG interferon, gamma
IFT140 intraflagellar transport 140
ITGA6 integrin, alpha 6
ITGA8 integrin, alpha 8
ITGB4 integrin, beta 4
JAG1 jagged 1
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KDM6A lysine (K)-specific demethylase 6A
KIAA0586 KIAA0586
LARGE like-glycosyltransferase
LHX1 LIM homeobox 1
LMX1B LIM homeobox transcription factor 1, beta
MBTPS2 membrane-bound transcription factor peptidase, site 2
MET MET proto-oncogene, receptor tyrosine kinase
MIP major intrinsic protein of lens fiber
MMP7 matrix metallopeptidase 7
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFB8 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NEUROD2 neuronal differentiation 2
NOTCH2 notch 2
NPHP3 nephronophthisis 3 (adolescent)
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
PAX2 paired box 2
PBX1 pre-B-cell leukemia homeobox 1
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLEC plectin
PLVAP plasmalemma vesicle associated protein
PNKP polynucleotide kinase 3'-phosphatase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5
RET ret proto-oncogene
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
SALL1 spalt-like transcription factor 1
SCN2A sodium channel, voltage gated, type II alpha subunit
SCO2 SCO2 cytochrome c oxidase assembly protein
SDCCAG8 serologically defined colon cancer antigen 8
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIK1 salt-inducible kinase 1
SIX1 SIX homeobox 1
SIX2 SIX homeobox 2
SIX5 SIX homeobox 5
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
SRGAP1 SLIT-ROBO Rho GTPase activating protein 1
STXBP1 syntaxin binding protein 1
SURF1 surfeit 1
TBC1D1 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1
TBX1 T-box 1
TBX18 T-box 18
TCF21 transcription factor 21
TGFB1 transforming growth factor, beta 1
TP63 tumor protein p63
TRIM8 tripartite motif containing 8
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
USP9X ubiquitin specific peptidase 9, X-linked
WDR19 WD repeat domain 19
ZNF148 zinc finger protein 148