abnormality of the bladder Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the urinary bladder. (Human Phenotype Ontology, HP_0000014)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000014
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Genes

144 genes associated with the abnormality of the bladder phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ALMS1 Alstrom syndrome protein 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit
AQP2 aquaporin 2 (collecting duct)
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSA arylsulfatase A
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASXL1 additional sex combs like transcriptional regulator 1
ATL1 atlastin GTPase 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
AUH AU RNA binding protein/enoyl-CoA hydratase
AVPR2 arginine vasopressin receptor 2
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CCBE1 collagen and calcium binding EGF domains 1
CHD7 chromodomain helicase DNA binding protein 7
CHMP2B charged multivesicular body protein 2B
CHRM3 cholinergic receptor, muscarinic 3
CLIP2 CAP-GLY domain containing linker protein 2
COL18A1 collagen, type XVIII, alpha 1
COL1A1 collagen, type I, alpha 1
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL5A2 collagen, type V, alpha 2
COMT catechol-O-methyltransferase
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DDHD2 DDHD domain containing 2
DLG3 discs, large homolog 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
FA2H fatty acid 2-hydroxylase
FAM134B family with sequence similarity 134, member B
FAM20A family with sequence similarity 20, member A
FAM58A family with sequence similarity 58, member A
FBLN5 fibulin 5
FGFR2 fibroblast growth factor receptor 2
FKBP14 FK506 binding protein 14, 22 kDa
FLNA filamin A, alpha
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FMR1 fragile X mental retardation 1
FUZ fuzzy planar cell polarity protein
GATA3 GATA binding protein 3
GBA2 glucosidase, beta (bile acid) 2
GBE1 glucan (1,4-alpha-), branching enzyme 1
GJA1 gap junction protein, alpha 1, 43kDa
GJC2 gap junction protein, gamma 2, 47kDa
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HEXB hexosaminidase B (beta polypeptide)
HIRA histone cell cycle regulator
HMBS hydroxymethylbilane synthase
HOXA13 homeobox A13
HOXD13 homeobox D13
HPSE2 heparanase 2 (inactive)
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTRA1 HtrA serine peptidase 1
IGHMBP2 immunoglobulin mu binding protein 2
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KIAA0196 KIAA0196
KIF1A kinesin family member 1A
KIF5A kinesin family member 5A
LIMK1 LIM domain kinase 1
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LTBP4 latent transforming growth factor beta binding protein 4
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MBTPS2 membrane-bound transcription factor peptidase, site 2
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MNX1 motor neuron and pancreas homeobox 1
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPBL Nipped-B homolog (Drosophila)
NOTCH3 notch 3
NPHP3 nephronophthisis 3 (adolescent)
PANK2 pantothenate kinase 2
PAX2 paired box 2
PEPD peptidase D
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PINK1 PTEN induced putative kinase 1
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
POR P450 (cytochrome) oxidoreductase
PRNP prion protein
PSAP prosaposin
RAD21 RAD21 homolog (S. pombe)
RARB retinoic acid receptor, beta
RECQL4 RecQ protein-like 4
REEP1 receptor accessory protein 1
REEP2 receptor accessory protein 2
RFC2 replication factor C (activator 1) 2, 40kDa
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila)
RPL11 ribosomal protein L11
RTN2 reticulon 2
SACS sacsin molecular chaperone
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
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC5A2 solute carrier family 5 (sodium/glucose cotransporter), member 2
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOX17 SRY (sex determining region Y)-box 17
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
STAMBP STAM binding protein
STRA6 stimulated by retinoic acid 6
TBL2 transducin (beta)-like 2
TBP TATA box binding protein
TBX1 T-box 1
TNXB tenascin XB
TP63 tumor protein p63
TREM2 triggering receptor expressed on myeloid cells 2
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTR transthyretin
TYROBP TYRO protein tyrosine kinase binding protein
UFD1L ubiquitin fusion degradation 1 like (yeast)
UPB1 ureidopropionase, beta
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
WFS1 Wolfram syndrome 1 (wolframin)
ZFYVE26 zinc finger, FYVE domain containing 26
ZNF592 zinc finger protein 592