scrotal hypoplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000046
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Genes

34 genes associated with the scrotal hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALX4 ALX homeobox 4
ATRX alpha thalassemia/mental retardation syndrome X-linked
BMP4 bone morphogenetic protein 4
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
DHCR7 7-dehydrocholesterol reductase
ERCC2 excision repair cross-complementation group 2
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GRIP1 glutamate receptor interacting protein 1
ICK intestinal cell (MAK-like) kinase
IRF6 interferon regulatory factor 6
KAT6B K(lysine) acetyltransferase 6B
MED12 mediator complex subunit 12
NDN necdin, melanoma antigen (MAGE) family member
OPHN1 oligophrenin 1
ORC6 origin recognition complex, subunit 6
PHF6 PHD finger protein 6
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POR P450 (cytochrome) oxidoreductase
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RAB18 RAB18, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
SETBP1 SET binding protein 1
SIX6 SIX homeobox 6
SNRPN small nuclear ribonucleoprotein polypeptide N
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
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
TBC1D20 TBC1 domain family, member 20
TCOF1 Treacher Collins-Franceschetti syndrome 1
TSPYL1 TSPY-like 1
WNT7A wingless-type MMTV integration site family, member 7A