shawl scrotum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Superior margin of the scrotum superior to the base of the penis. (Human Phenotype Ontology, HP_0000049)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000049
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Genes

13 genes associated with the shawl scrotum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATRX alpha thalassemia/mental retardation syndrome X-linked
CREBBP CREB binding protein
EFNB1 ephrin-B1
FGD1 FYVE, RhoGEF and PH domain containing 1
HNF1B HNF1 homeobox B
KIAA2022 KIAA2022
LHX1 LIM homeobox 1
MEGF8 multiple EGF-like-domains 8
ORC1 origin recognition complex, subunit 1
TBX2 T-box 2
TBX3 T-box 3
TBX4 T-box 4
TMCO1 transmembrane and coiled-coil domains 1