multicystic kidney dysplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. (Human Phenotype Ontology, HP_0000003)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000003
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Genes

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

Symbol Name
ACTG2 actin, gamma 2, smooth muscle, enteric
AMER1 APC membrane recruitment protein 1
ARL6 ADP-ribosylation factor-like 6
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
B3GALTL beta 1,3-galactosyltransferase-like
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CC2D2A coiled-coil and C2 domain containing 2A
CD96 CD96 molecule
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CHRM3 cholinergic receptor, muscarinic 3
COMT catechol-O-methyltransferase
CPT2 carnitine palmitoyltransferase 2
DHCR7 7-dehydrocholesterol reductase
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GATA3 GATA binding protein 3
GLI3 GLI family zinc finger 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GRIP1 glutamate receptor interacting protein 1
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HIRA histone cell cycle regulator
HNF1B HNF1 homeobox B
HOXD13 homeobox D13
IFT27 intraflagellar transport 27
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INVS inversin
IQCB1 IQ motif containing B1
KAT6B K(lysine) acetyltransferase 6B
LHX1 LIM homeobox 1
LZTFL1 leucine zipper transcription factor-like 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
NIPBL Nipped-B homolog (Drosophila)
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
OFD1 oral-facial-digital syndrome 1
PAX2 paired box 2
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PIEZO2 piezo-type mechanosensitive ion channel component 2
PORCN porcupine homolog (Drosophila)
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SALL1 spalt-like transcription factor 1
SDCCAG8 serologically defined colon cancer antigen 8
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
TBX1 T-box 1
TCTN2 tectonic family member 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TRIM32 tripartite motif containing 32
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTC8 tetratricopeptide repeat domain 8
UFD1L ubiquitin fusion degradation 1 like (yeast)
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WDPCP WD repeat containing planar cell polarity effector
WNT3 wingless-type MMTV integration site family, member 3
WNT5A wingless-type MMTV integration site family, member 5A