abnormality of the pons Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the pons. (Human Phenotype Ontology, HP_0007361)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007361
Similar Terms
Downloads & Tools

Genes

19 genes associated with the abnormality of the pons phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AHI1 Abelson helper integration site 1
ASNS asparagine synthetase (glutamine-hydrolyzing)
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
CEP290 centrosomal protein 290kDa
CSPP1 centrosome and spindle pole associated protein 1
DOCK7 dedicator of cytokinesis 7
FKRP fukutin related protein
GMPPB GDP-mannose pyrophosphorylase B
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
LARGE like-glycosyltransferase
NPHP1 nephronophthisis 1 (juvenile)
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PMM2 phosphomannomutase 2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
TMEM216 transmembrane protein 216
TMEM67 transmembrane protein 67
TSEN54 TSEN54 tRNA splicing endonuclease subunit
VRK1 vaccinia related kinase 1
WNT1 wingless-type MMTV integration site family, member 1