abnormality of brainstem morphology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the brainstem. (Human Phenotype Ontology, HP_0002363)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002363
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ADGRG1 adhesion G protein-coupled receptor G1
AHI1 Abelson helper integration site 1
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASXL1 additional sex combs like transcriptional regulator 1
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
CEP290 centrosomal protein 290kDa
CHMP1A charged multivesicular body protein 1A
COG5 component of oligomeric golgi complex 5
CSPP1 centrosome and spindle pole associated protein 1
DOCK7 dedicator of cytokinesis 7
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FKRP fukutin related protein
FKTN fukutin
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
GMPPB GDP-mannose pyrophosphorylase B
HOXA1 homeobox A1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ISPD isoprenoid synthase domain containing
KIF1BP KIF1 binding protein
LAMB1 laminin, beta 1
LARGE like-glycosyltransferase
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NDE1 nudE neurodevelopment protein 1
NPHP1 nephronophthisis 1 (juvenile)
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PMM2 phosphomannomutase 2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
SQSTM1 sequestosome 1
TMEM216 transmembrane protein 216
TMEM67 transmembrane protein 67
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TSEN2 TSEN2 tRNA splicing endonuclease subunit
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TUBA1A tubulin, alpha 1a
TUBA8 tubulin, alpha 8
TUBB tubulin, beta class I
TUBB2A tubulin, beta 2A class IIa
TUBB3 tubulin, beta 3 class III
VLDLR very low density lipoprotein receptor
VRK1 vaccinia related kinase 1
WNT1 wingless-type MMTV integration site family, member 1