hypoplastic male external genitalia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). (Human Phenotype Ontology, HP_0000050)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000050
Similar Terms
Downloads & Tools

Genes

262 genes associated with the hypoplastic male external genitalia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ACTB actin, beta
ALX4 ALX homeobox 4
ANK1 ankyrin 1, erythrocytic
ANOS1 anosmin 1
AR androgen receptor
ARL2BP ADP-ribosylation factor-like 2 binding protein
ARL6 ADP-ribosylation factor-like 6
ARX aristaless related homeobox
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BEST1 bestrophin 1
BMP4 bone morphogenetic protein 4
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C2CD3 C2 calcium-dependent domain containing 3
C2ORF71 chromosome 2 open reading frame 71
C8ORF37 chromosome 8 open reading frame 37
CA4 carbonic anhydrase IV
CCDC22 coiled-coil domain containing 22
CDC6 cell division cycle 6
CDHR1 cadherin-related family member 1
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDT1 chromatin licensing and DNA replication factor 1
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CERKL ceramide kinase-like
CHD7 chromodomain helicase DNA binding protein 7
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP2 CAP-GLY domain containing linker protein 2
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
COL4A1 collagen, type IV, alpha 1
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CUL4B cullin 4B
CUL7 cullin 7
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
DCAF17 DDB1 and CUL4 associated factor 17
DCX doublecortin
DHCR7 7-dehydrocholesterol reductase
DHDDS dehydrodolichyl diphosphate synthase
DHODH dihydroorotate dehydrogenase (quinone)
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DKC1 dyskeratosis congenita 1, dyskerin
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DUSP6 dual specificity phosphatase 6
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
ECE1 endothelin converting enzyme 1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
EYS eyes shut homolog (Drosophila)
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAM161A family with sequence similarity 161, member A
FAT4 FAT atypical cadherin 4
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLRT3 fibronectin leucine rich transmembrane protein 3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FSCN2 fascin actin-bundling protein 2, retinal
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA4 GATA binding protein 4
GHR growth hormone receptor
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GNRHR gonadotropin-releasing hormone receptor
GPC3 glypican 3
GPC4 glypican 4
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCA1B guanylate cyclase activator 1B (retina)
HCCS holocytochrome c synthase
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HOXA13 homeobox A13
HOXD13 homeobox D13
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSPG2 heparan sulfate proteoglycan 2
ICK intestinal cell (MAK-like) kinase
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IFT27 intraflagellar transport 27
IL17RD interleukin 17 receptor D
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRF6 interferon regulatory factor 6
ISPD isoprenoid synthase domain containing
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIF7 kinesin family member 7
KISS1R KISS1 receptor
KIZ kizuna centrosomal protein
KLHL7 kelch-like family member 7
KMT2D lysine (K)-specific methyltransferase 2D
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LHCGR luteinizing hormone/choriogonadotropin receptor
LHX4 LIM homeobox 4
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LZTFL1 leucine zipper transcription factor-like 1
MAGEL2 melanoma antigen family L2
MAK male germ cell-associated kinase
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MBD5 methyl-CpG binding domain protein 5
MED12 mediator complex subunit 12
MEGF8 multiple EGF-like-domains 8
MERTK MER proto-oncogene, tyrosine kinase
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MNX1 motor neuron and pancreas homeobox 1
NDN necdin, melanoma antigen (MAGE) family member
NEK1 NIMA-related kinase 1
NEK2 NIMA-related kinase 2
NIPBL Nipped-B homolog (Drosophila)
NPHP1 nephronophthisis 1 (juvenile)
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
NR5A1 nuclear receptor subfamily 5, group A, member 1
NRL neural retina leucine zipper
NSD1 nuclear receptor binding SET domain protein 1
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
OTX2 orthodenticle homeobox 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POR P450 (cytochrome) oxidoreductase
PQBP1 polyglutamine binding protein 1
PRCD progressive rod-cone degeneration
PRDM16 PR domain containing 16
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRRX1 paired related homeobox 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RFC2 replication factor C (activator 1) 2, 40kDa
RGR retinal G protein coupled receptor
RHO rhodopsin
RIPK4 receptor-interacting serine-threonine kinase 4
RLBP1 retinaldehyde binding protein 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROM1 retinal outer segment membrane protein 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
SAG S-antigen; retina and pineal gland (arrestin)
SALL1 spalt-like transcription factor 1
SC5D sterol-C5-desaturase
SDCCAG8 serologically defined colon cancer antigen 8
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SETBP1 SET binding protein 1
SHH sonic hedgehog
SIX6 SIX homeobox 6
SKI SKI proto-oncogene
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC7A14 solute carrier family 7, member 14
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SOX9 SRY (sex determining region Y)-box 9
SPATA7 spermatogenesis associated 7
SPRY4 sprouty homolog 4 (Drosophila)
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
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
TACR3 tachykinin receptor 3
TBC1D20 TBC1 domain family, member 20
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX3 T-box 3
TCF4 transcription factor 4
TCOF1 Treacher Collins-Franceschetti syndrome 1
TMEM216 transmembrane protein 216
TMEM5 transmembrane protein 5
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TP63 tumor protein p63
TRIM32 tripartite motif containing 32
TSPYL1 TSPY-like 1
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
UBA1 ubiquitin-like modifier activating enzyme 1
UBE2A ubiquitin-conjugating enzyme E2A
UBR1 ubiquitin protein ligase E3 component n-recognin 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
VAMP7 vesicle-associated membrane protein 7
WDPCP WD repeat containing planar cell polarity effector
WDR11 WD repeat domain 11
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB16 zinc finger and BTB domain containing 16
ZNF513 zinc finger protein 513