polycystic kidney dysplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000113
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Genes

59 genes associated with the polycystic kidney dysplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMPER BMP binding endothelial regulator
CDC73 cell division cycle 73
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CLIP2 CAP-GLY domain containing linker protein 2
COMT catechol-O-methyltransferase
CPT2 carnitine palmitoyltransferase 2
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
ELN elastin
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
EYA1 EYA transcriptional coactivator and phosphatase 1
FLNB filamin B, beta
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HIRA histone cell cycle regulator
IFT80 intraflagellar transport 80
INVS inversin
IQCB1 IQ motif containing B1
KAT6B K(lysine) acetyltransferase 6B
LIMK1 LIM domain kinase 1
LRP5 low density lipoprotein receptor-related protein 5
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
NEK1 NIMA-related kinase 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NSD1 nuclear receptor binding SET domain protein 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
PEX5 peroxisomal biogenesis factor 5
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PRKCSH protein kinase C substrate 80K-H
RFC2 replication factor C (activator 1) 2, 40kDa
SDCCAG8 serologically defined colon cancer antigen 8
SEC63 SEC63 homolog (S. cerevisiae)
SHANK3 SH3 and multiple ankyrin repeat domains 3
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TMEM231 transmembrane protein 231
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
UFD1L ubiquitin fusion degradation 1 like (yeast)
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
ZNF423 zinc finger protein 423