Hypospadias Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0848558
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Genes

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

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACTA1 actin, alpha 1, skeletal muscle
ADK adenosine kinase
AFP alpha-fetoprotein
AGRP agouti related neuropeptide
AHR aryl hydrocarbon receptor
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALG12 ALG12, alpha-1,6-mannosyltransferase
AMH anti-Mullerian hormone
APC2 adenomatosis polyposis coli 2
AR androgen receptor
ARCN1 archain 1
ARID1B AT rich interactive domain 1B (SWI1-like)
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSD arylsulfatase D
ARTN artemin
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ATF3 activating transcription factor 3
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GLCT beta 3-glucosyltransferase
B9D2 B9 protein domain 2
BCOR BCL6 corepressor
BMP7 bone morphogenetic protein 7
BNC2 basonuclin 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CCDC22 coiled-coil domain containing 22
CCDC59 coiled-coil domain containing 59
CCDC8 coiled-coil domain containing 8
CD207 CD207 molecule, langerin
CD44 CD44 molecule (Indian blood group)
CDC42 cell division cycle 42
CDC45 cell division cycle 45
CDC6 cell division cycle 6
CDCA7 cell division cycle associated 7
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDT1 chromatin licensing and DNA replication factor 1
CHD7 chromodomain helicase DNA binding protein 7
CHPT1 choline phosphotransferase 1
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COG1 component of oligomeric golgi complex 1
COL3A1 collagen, type III, alpha 1
COLEC10 collectin sub-family member 10 (C-type lectin)
COMT catechol-O-methyltransferase
COX7B cytochrome c oxidase subunit VIIb
CPLX1 complexin 1
CREBBP CREB binding protein
CSPP1 centrosome and spindle pole associated protein 1
CTBP1 C-terminal binding protein 1
CUL4B cullin 4B
CUL7 cullin 7
CYB5A cytochrome b5 type A (microsomal)
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
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
DACT1 dishevelled-binding antagonist of beta-catenin 1
DCHS1 dachsous cadherin-related 1
DENND2B DENN domain containing 2B
DGKK diacylglycerol kinase, kappa
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHH desert hedgehog
DHRS11 dehydrogenase/reductase (SDR family) member 11
DKC1 dyskeratosis congenita 1, dyskerin
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLL3 delta-like 3 (Drosophila)
DMD dystrophin
DMRT3 doublesex and mab-3 related transcription factor 3
DNAH6 dynein, axonemal, heavy chain 6
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DOCK11 dedicator of cytokinesis 11
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EDIL3 EGF-like repeats and discoidin I-like domains 3
EEFSEC eukaryotic elongation factor, selenocysteine-tRNA-specific
EFNB1 ephrin-B1
EFNB2 ephrin-B2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
EMX2 empty spiracles homeobox 2
EP300 E1A binding protein p300
ERCC4 excision repair cross-complementation group 4
ERMARD ER membrane-associated RNA degradation
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXOC3 exocyst complex component 3
EYA1 EYA transcriptional coactivator and phosphatase 1
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
FBXL4 F-box and leucine-rich repeat protein 4
FGF10 fibroblast growth factor 10
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP4 FK506 binding protein 4, 59kDa
FLAD1 flavin adenine dinucleotide synthetase 1
FLG filaggrin
FLNA filamin A, alpha
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FOXC1 forkhead box C1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FZD2 frizzled class receptor 2
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA4 GATA binding protein 4
GATAD2B GATA zinc finger domain containing 2B
GLI1 GLI family zinc finger 1
GLI3 GLI family zinc finger 3
GMNN geminin, DNA replication inhibitor
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GREM1 gremlin 1, DAN family BMP antagonist
GRIP1 glutamate receptor interacting protein 1
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
HAAO 3-hydroxyanthranilate 3,4-dioxygenase
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HCCS holocytochrome c synthase
HDAC8 histone deacetylase 8
HES7 hes family bHLH transcription factor 7
HHIP hedgehog interacting protein
HIRA histone cell cycle regulator
HNF1B HNF1 homeobox B
HNF4A hepatocyte nuclear factor 4, alpha
HOXA13 homeobox A13
HOXA3 homeobox A3
HOXA4 homeobox A4
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
HYLS1 hydrolethalus syndrome 1
ICK intestinal cell (MAK-like) kinase
IGF2 insulin-like growth factor 2
INSL3 insulin-like 3 (Leydig cell)
IRF6 interferon regulatory factor 6
IRX6 iroquois homeobox 6
JMJD1C jumonji domain containing 1C
JUN jun proto-oncogene
JUNB jun B proto-oncogene
JUND jun D proto-oncogene
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KDM5B lysine (K)-specific demethylase 5B
KDM6A lysine (K)-specific demethylase 6A
KIAA0195 KIAA0195
KIAA0586 KIAA0586
KIF7 kinesin family member 7
KIFBP kinesin family binding protein
KLF6 Kruppel-like factor 6
KLHL40 kelch-like family member 40
KLHL41 kelch-like family member 41
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA5 laminin, alpha 5
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LHCGR luteinizing hormone/choriogonadotropin receptor
LIG4 ligase IV, DNA, ATP-dependent
LMNA lamin A/C
LMOD3 leiomodin 3 (fetal)
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
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
MAPRE2 microtubule-associated protein, RP/EB family, member 2
MCTP2 multiple C2 domains, transmembrane 2
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED25 mediator complex subunit 25
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MID1 midline 1
MKKS McKusick-Kaufman syndrome
MMP11 matrix metallopeptidase 11
MNX1 motor neuron and pancreas homeobox 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYBPH myosin binding protein H
MYH11 myosin, heavy chain 11, smooth muscle
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
NEB nebulin
NELFA negative elongation factor complex member A
NFE2L2 nuclear factor, erythroid 2-like 2
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NIPBL Nipped-B homolog (Drosophila)
NKX2-1 NK2 homeobox 1
NOTCH2 notch 2
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
NSD2 nuclear receptor binding SET domain protein 2
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OBSL1 obscurin-like 1
OGT O-linked N-acetylglucosamine (GlcNAc) transferase
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PALB2 partner and localizer of BRCA2
PAX6 paired box 6
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
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
PHACTR2 phosphatase and actin regulator 2
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
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
PITX2 paired-like homeodomain 2
PLA2G15 phospholipase A2, group XV
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POR P450 (cytochrome) oxidoreductase
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROK2 prokineticin 2
PSPH phosphoserine phosphatase
PTDSS1 phosphatidylserine synthase 1
PTK2B protein tyrosine kinase 2 beta
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAD21 RAD21 homolog (S. pombe)
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAP1A RAP1A, member of RAS oncogene family
RAP1B RAP1B, member of RAS oncogene family
RBBP8 retinoblastoma binding protein 8
RERE arginine-glutamic acid dipeptide (RE) repeats
RFWD3 ring finger and WD repeat domain 3
RIPPLY2 ripply transcriptional repressor 2
RLIM ring finger protein, LIM domain interacting
RNF128 ring finger protein 128, E3 ubiquitin protein ligase
RPL10 ribosomal protein L10
RPL35A ribosomal protein L35a
RREB1 ras responsive element binding protein 1
RSPO1 R-spondin 1
RTTN rotatin
SALL1 spalt-like transcription factor 1
SAMD9 sterile alpha motif domain containing 9
SCARB1 scavenger receptor class B, member 1
SEC24C SEC24 family member C
SETBP1 SET binding protein 1
SETD2 SET domain containing 2
SETD5 SET domain containing 5
SF1 splicing factor 1
SHH sonic hedgehog
SIN3A SIN3 transcription regulator family member A
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMS spermine synthase
SOD1 superoxide dismutase 1, soluble
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
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
SSR4 signal sequence receptor, delta
STAR steroidogenic acute regulatory protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SUFU suppressor of fused homolog (Drosophila)
TAPT1 transmembrane anterior posterior transformation 1
TAX1BP1 Tax1 (human T-cell leukemia virus type I) binding protein 1
TBX1 T-box 1
TBX22 T-box 22
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)
TMEM70 transmembrane protein 70
TMEM8C transmembrane protein 8C
TP63 tumor protein p63
TPPP tubulin polymerization promoting protein
TTC8 tetratricopeptide repeat domain 8
TUBB tubulin, beta class I
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2A ubiquitin-conjugating enzyme E2A
UBE2T ubiquitin-conjugating enzyme E2T
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1 ubiquitin recognition factor in ER associated degradation 1
UROD uroporphyrinogen decarboxylase
VAC14 Vac14 homolog (S. cerevisiae)
VAMP7 vesicle-associated membrane protein 7
WASHC5 WASH complex subunit 5
WDR35 WD repeat domain 35
WNT4 wingless-type MMTV integration site family, member 4
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WT1 Wilms tumor 1
WTAP Wilms tumor 1 associated protein
WTIP Wilms tumor 1 interacting protein
WWOX WW domain containing oxidoreductase
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
ZEB2 zinc finger E-box binding homeobox 2
ZFHX3 zinc finger homeobox 3
ZFPM2 zinc finger protein, FOG family member 2
ZFY zinc finger protein, Y-linked
ZMPSTE24 zinc metallopeptidase STE24
ZMYM3 zinc finger, MYM-type 3