hypospadias Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. (Human Disease Ontology, DOID_10892)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000047
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Genes

84 genes associated with the hypospadias phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AR androgen receptor
ARX aristaless related homeobox
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
BMP4 bone morphogenetic protein 4
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CREBBP CREB binding protein
CUL4B cullin 4B
CUL7 cullin 7
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
DCHS1 dachsous cadherin-related 1
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
EFNB1 ephrin-B1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FAT4 FAT atypical cadherin 4
FBXL4 F-box and leucine-rich repeat protein 4
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
FLNA filamin A, alpha
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GATA4 GATA binding protein 4
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GRIP1 glutamate receptor interacting protein 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HCCS holocytochrome c synthase
HNF1B HNF1 homeobox B
HOXA13 homeobox A13
HOXD13 homeobox D13
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
HYLS1 hydrolethalus syndrome 1
ICK intestinal cell (MAK-like) kinase
KIAA0196 KIAA0196
KIF7 kinesin family member 7
LMNA lamin A/C
MAMLD1 mastermind-like domain containing 1
MED12 mediator complex subunit 12
MID1 midline 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NIPBL Nipped-B homolog (Drosophila)
NOTCH2 notch 2
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PEX1 peroxisomal biogenesis factor 1
PIEZO2 piezo-type mechanosensitive ion channel component 2
PITX2 paired-like homeodomain 2
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
POR P450 (cytochrome) oxidoreductase
PQBP1 polyglutamine binding protein 1
PTDSS1 phosphatidylserine synthase 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RBBP8 retinoblastoma binding protein 8
RPL35A ribosomal protein L35a
SALL1 spalt-like transcription factor 1
SETBP1 SET binding protein 1
SETD5 SET domain containing 5
SOX2 SRY (sex determining region Y)-box 2
SRCAP Snf2-related CREBBP activator protein
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
STAR steroidogenic acute regulatory protein
TBX22 T-box 22
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM70 transmembrane protein 70
TP63 tumor protein p63
UBA1 ubiquitin-like modifier activating enzyme 1
UBR1 ubiquitin protein ligase E3 component n-recognin 1
WDR35 WD repeat domain 35
WNT7A wingless-type MMTV integration site family, member 7A
ZEB2 zinc finger E-box binding homeobox 2
ZMPSTE24 zinc metallopeptidase STE24