Hypospadias Gene Set

Dataset HuGE Navigator Gene-Phenotype 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)
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Genes

54 genes associated with the Hypospadias phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
AHR aryl hydrocarbon receptor
AHRR aryl-hydrocarbon receptor repressor
AKR1B1 aldo-keto reductase family 1, member B1 (aldose reductase)
AR androgen receptor
ARNT aryl hydrocarbon receptor nuclear translocator
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ATF3 activating transcription factor 3
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
DGKK diacylglycerol kinase, kappa
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
EYA1 EYA transcriptional coactivator and phosphatase 1
FGF10 fibroblast growth factor 10
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR2 fibroblast growth factor receptor 2
FKBP4 FK506 binding protein 4, 59kDa
GLI1 GLI family zinc finger 1
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
HOXA13 homeobox A13
HOXA4 homeobox A4
HOXB6 homeobox B6
HOXD13 homeobox D13
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
INSL3 insulin-like 3 (Leydig cell)
IRX5 iroquois homeobox 5
IRX6 iroquois homeobox 6
MAMLD1 mastermind-like domain containing 1
MID1 midline 1
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
RXRA retinoid X receptor, alpha
RXRB retinoid X receptor, beta
RXRG retinoid X receptor, gamma
SF1 splicing factor 1
SHH sonic hedgehog
SOX9 SRY (sex determining region Y)-box 9
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SRY sex determining region Y
STARD3 StAR-related lipid transfer (START) domain containing 3
WT1 Wilms tumor 1
WTAP Wilms tumor 1 associated protein