Penile Hypospadias Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Location of the urethral opening on the inferior aspect of the penis. (Human Phenotype Ontology, HP_0003244)
External Link https://www.disgenet.org/browser/0/1/0/C1691215
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Genes

122 genes associated with the disease Penile Hypospadias in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AFP alpha-fetoprotein
AGRP agouti related neuropeptide
AHR aryl hydrocarbon receptor
AKR1C3 aldo-keto reductase family 1, member C3
AKT1 v-akt murine thymoma viral oncogene homolog 1
AMH anti-Mullerian hormone
AR androgen receptor
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSD arylsulfatase D
ARTN artemin
ATF3 activating transcription factor 3
BMP7 bone morphogenetic protein 7
BNC2 basonuclin 2
CD207 CD207 molecule, langerin
CD44 CD44 molecule (Indian blood group)
CHD7 chromodomain helicase DNA binding protein 7
CHPT1 choline phosphotransferase 1
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
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
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
DGKK diacylglycerol kinase, kappa
DHDDS dehydrodolichyl diphosphate synthase
DHRS11 dehydrogenase/reductase (SDR family) member 11
DKK1 dickkopf WNT signaling pathway inhibitor 1
DOCK11 dedicator of cytokinesis 11
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EDIL3 EGF-like repeats and discoidin I-like domains 3
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
EMX2 empty spiracles homeobox 2
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
EXOC6B exocyst complex component 6B
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
FLAD1 flavin adenine dinucleotide synthetase 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
HAAO 3-hydroxyanthranilate 3,4-dioxygenase
HOXA13 homeobox A13
HOXB6 homeobox B6
HOXD13 homeobox D13
HSD17B13 hydroxysteroid (17-beta) dehydrogenase 13
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
HSD17B7 hydroxysteroid (17-beta) dehydrogenase 7
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
INSL3 insulin-like 3 (Leydig cell)
IRF6 interferon regulatory factor 6
IRX6 iroquois homeobox 6
JUN jun proto-oncogene
JUNB jun B proto-oncogene
JUND jun D proto-oncogene
KLF6 Kruppel-like factor 6
LAMA5 laminin, alpha 5
LHCGR luteinizing hormone/choriogonadotropin receptor
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAMLD1 mastermind-like domain containing 1
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MAPK8 mitogen-activated protein kinase 8
MAPK9 mitogen-activated protein kinase 9
MID1 midline 1
MMP11 matrix metallopeptidase 11
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MYBPH myosin binding protein H
MYH11 myosin, heavy chain 11, smooth muscle
MYRF myelin regulatory factor
NFE2L2 nuclear factor, erythroid 2-like 2
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPBL Nipped-B homolog (Drosophila)
NR5A1 nuclear receptor subfamily 5, group A, member 1
PALB2 partner and localizer of BRCA2
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PHF6 PHD finger protein 6
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIP prolactin-induced protein
PLA2G15 phospholipase A2, group XV
PROK2 prokineticin 2
PTK2B protein tyrosine kinase 2 beta
PUF60 poly-U binding splicing factor 60KDa
RLIM ring finger protein, LIM domain interacting
RNF128 ring finger protein 128, E3 ubiquitin protein ligase
SCARB1 scavenger receptor class B, member 1
SETBP1 SET binding protein 1
SF1 splicing factor 1
SHH sonic hedgehog
SOD1 superoxide dismutase 1, soluble
SOX9 SRY (sex determining region Y)-box 9
SRCAP Snf2-related CREBBP activator protein
SRD5A1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)
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
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STS steroid sulfatase (microsomal), isozyme S
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB1 transforming growth factor, beta 1
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM258 transmembrane protein 258
TMEM70 transmembrane protein 70
TPPP tubulin polymerization promoting protein
UROD uroporphyrinogen decarboxylase
WT1 Wilms tumor 1
WTIP Wilms tumor 1 interacting protein
ZEB2 zinc finger E-box binding homeobox 2
ZFY zinc finger protein, Y-linked