abnormality of the lower urinary tract Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the lower urinary tract. (Human Phenotype Ontology, HP_0010936)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010936
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Genes

324 genes associated with the abnormality of the lower urinary tract 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)
AR androgen receptor
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSA arylsulfatase A
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
ATL1 atlastin GTPase 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATR ATR serine/threonine kinase
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
B3GALTL beta 1,3-galactosyltransferase-like
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BDNF brain-derived neurotrophic factor
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CC2D2A coiled-coil and C2 domain containing 2A
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CCDC8 coiled-coil domain containing 8
CDC6 cell division cycle 6
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDT1 chromatin licensing and DNA replication factor 1
CEP290 centrosomal protein 290kDa
CHD7 chromodomain helicase DNA binding protein 7
CHMP2B charged multivesicular body protein 2B
CHRM3 cholinergic receptor, muscarinic 3
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP2 CAP-GLY domain containing linker protein 2
CLMP CXADR-like membrane protein
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
COL7A1 collagen, type VII, alpha 1
COMT catechol-O-methyltransferase
COX7B cytochrome c oxidase subunit VIIb
CREBBP CREB binding protein
CTC1 CTS telomere maintenance complex component 1
CUL4B cullin 4B
CUL7 cullin 7
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DCHS1 dachsous cadherin-related 1
DDHD2 DDHD domain containing 2
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DLG3 discs, large homolog 3 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FA2H fatty acid 2-hydroxylase
FAM111A family with sequence similarity 111, member A
FAM134B family with sequence similarity 134, member B
FAM20A family with sequence similarity 20, member A
FAM58A family with sequence similarity 58, member A
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FBXL4 F-box and leucine-rich repeat protein 4
FERMT1 fermitin family member 1
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
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
FOXC1 forkhead box C1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FUZ fuzzy planar cell polarity protein
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA3 GATA binding protein 3
GATA4 GATA binding protein 4
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
GLI3 GLI family zinc finger 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HCCS holocytochrome c synthase
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HEXB hexosaminidase B (beta polypeptide)
HIRA histone cell cycle regulator
HLA-B major histocompatibility complex, class I, B
HMBS hydroxymethylbilane synthase
HNF1B HNF1 homeobox B
HOXA13 homeobox A13
HOXD13 homeobox D13
HPSE2 heparanase 2 (inactive)
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HTRA1 HtrA serine peptidase 1
HYLS1 hydrolethalus syndrome 1
ICK intestinal cell (MAK-like) kinase
IFT80 intraflagellar transport 80
IGHMBP2 immunoglobulin mu binding protein 2
JAG1 jagged 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIF1A kinesin family member 1A
KIF1BP KIF1 binding protein
KIF5A kinesin family member 5A
KIF7 kinesin family member 7
KMT2D lysine (K)-specific methyltransferase 2D
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LRIG2 leucine-rich repeats and immunoglobulin-like domains 2
LTBP4 latent transforming growth factor beta binding protein 4
MAMLD1 mastermind-like domain containing 1
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MBTPS2 membrane-bound transcription factor peptidase, site 2
MED12 mediator complex subunit 12
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MID1 midline 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MNX1 motor neuron and pancreas homeobox 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NELFA negative elongation factor complex member A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHP2 NHP2 ribonucleoprotein
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NIPBL Nipped-B homolog (Drosophila)
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
NOTCH3 notch 3
NPHP3 nephronophthisis 3 (adolescent)
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OBSL1 obscurin-like 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PALB2 partner and localizer of BRCA2
PANK2 pantothenate kinase 2
PAX2 paired box 2
PAX6 paired box 6
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PEPD peptidase D
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
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
PITX2 paired-like homeodomain 2
PLEC plectin
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
POR P450 (cytochrome) oxidoreductase
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRNP prion protein
PSAP prosaposin
PTDSS1 phosphatidylserine synthase 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAD21 RAD21 homolog (S. pombe)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RARB retinoic acid receptor, beta
RBBP8 retinoblastoma binding protein 8
RECQL4 RecQ protein-like 4
REEP1 receptor accessory protein 1
REEP2 receptor accessory protein 2
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
ROBO2 roundabout, axon guidance receptor, homolog 2 (Drosophila)
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPL11 ribosomal protein L11
RPL35A ribosomal protein L35a
RTEL1 regulator of telomere elongation helicase 1
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
SETD5 SET domain containing 5
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SKI SKI proto-oncogene
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
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOX17 SRY (sex determining region Y)-box 17
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SRCAP Snf2-related CREBBP activator protein
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRY sex determining region Y
STAMBP STAM binding protein
STAR steroidogenic acute regulatory protein
STRA6 stimulated by retinoic acid 6
TBL2 transducin (beta)-like 2
TBP TATA box binding protein
TBX1 T-box 1
TBX22 T-box 22
TCTN2 tectonic family member 2
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
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
UBA1 ubiquitin-like modifier activating enzyme 1
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UPB1 ureidopropionase, beta
USB1 U6 snRNA biogenesis 1
VAMP7 vesicle-associated membrane protein 7
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
WDPCP WD repeat containing planar cell polarity effector
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WFS1 Wolfram syndrome 1 (wolframin)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT3 wingless-type MMTV integration site family, member 3
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WRAP53 WD repeat containing, antisense to TP53
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
ZEB2 zinc finger E-box binding homeobox 2
ZFYVE26 zinc finger, FYVE domain containing 26
ZIC3 Zic family member 3
ZMPSTE24 zinc metallopeptidase STE24
ZNF592 zinc finger protein 592