abnormality of the ureter Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the ureter. (Human Phenotype Ontology, HP_0000069)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000069
Similar Terms
Downloads & Tools

Genes

116 genes associated with the abnormality of the ureter 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
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
AXIN1 axin 1
B3GALTL beta 1,3-galactosyltransferase-like
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
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
CPT2 carnitine palmitoyltransferase 2
CTLA4 cytotoxic T-lymphocyte-associated protein 4
DHCR7 7-dehydrocholesterol reductase
DLL3 delta-like 3 (Drosophila)
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
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FBLN5 fibulin 5
FGFR2 fibroblast growth factor receptor 2
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FOXF1 forkhead box F1
FUZ fuzzy planar cell polarity protein
GATA3 GATA binding protein 3
GATA6 GATA binding protein 6
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HIRA histone cell cycle regulator
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HNF1B HNF1 homeobox B
HOXA13 homeobox A13
HOXD13 homeobox D13
HPSE2 heparanase 2 (inactive)
HSPG2 heparan sulfate proteoglycan 2
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KCTD1 potassium channel tetramerization domain containing 1
KMT2D lysine (K)-specific methyltransferase 2D
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHX1 LIM homeobox 1
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCPH1 microcephalin 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MNX1 motor neuron and pancreas homeobox 1
MPST mercaptopyruvate sulfurtransferase
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIPBL Nipped-B homolog (Drosophila)
NPHP3 nephronophthisis 3 (adolescent)
NSD1 nuclear receptor binding SET domain protein 1
PAX2 paired box 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PORCN porcupine homolog (Drosophila)
PRTN3 proteinase 3
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAB23 RAB23, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RAI1 retinoic acid induced 1
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
STK11 serine/threonine kinase 11
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
WFS1 Wolfram syndrome 1 (wolframin)
ZMPSTE24 zinc metallopeptidase STE24