vesicoureteral reflux Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. (Human Disease Ontology, DOID_9620)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000076
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Genes

68 genes associated with the vesicoureteral reflux 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
ALMS1 Alstrom syndrome protein 1
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASXL1 additional sex combs like transcriptional regulator 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CCBE1 collagen and calcium binding EGF domains 1
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
CLIP2 CAP-GLY domain containing linker protein 2
COL18A1 collagen, type XVIII, alpha 1
COMT catechol-O-methyltransferase
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
EXT1 exostosin glycosyltransferase 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM58A family with sequence similarity 58, member A
FBLN5 fibulin 5
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FUZ fuzzy planar cell polarity protein
GATA3 GATA binding protein 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HIRA histone cell cycle regulator
HOXA13 homeobox A13
HOXD13 homeobox D13
HPSE2 heparanase 2 (inactive)
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
LIMK1 LIM domain kinase 1
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
MBTPS2 membrane-bound transcription factor peptidase, site 2
MNX1 motor neuron and pancreas homeobox 1
NIPBL Nipped-B homolog (Drosophila)
PAX2 paired box 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
RAD21 RAD21 homolog (S. pombe)
RARB retinoic acid receptor, beta
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila)
RPL11 ribosomal protein L11
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOX17 SRY (sex determining region Y)-box 17
STAMBP STAM binding protein
STRA6 stimulated by retinoic acid 6
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TNXB tenascin XB
TP63 tumor protein p63
TRPS1 trichorhinophalangeal syndrome I
UFD1L ubiquitin fusion degradation 1 like (yeast)
VANGL1 VANGL planar cell polarity protein 1