renal dysplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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 http://compbio.charite.de/hpoweb/showterm?id=HP:0000110
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Genes

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

Symbol Name
ARX aristaless related homeobox
B3GNT1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EYA1 EYA transcriptional coactivator and phosphatase 1
GATA3 GATA binding protein 3
GLI3 GLI family zinc finger 3
HOXD13 homeobox D13
IFT140 intraflagellar transport 140
ITGA8 integrin, alpha 8
JAG1 jagged 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
NPHP3 nephronophthisis 3 (adolescent)
PAX2 paired box 2
POMT1 protein-O-mannosyltransferase 1
RET ret proto-oncogene
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
SALL1 spalt-like transcription factor 1
SIX5 SIX homeobox 5
TBX1 T-box 1
TP63 tumor protein p63