aplasia/hypoplasia of the brainstem Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007362
Similar Terms
Downloads & Tools

Genes

32 genes associated with the aplasia/hypoplasia of the brainstem 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
ASXL1 additional sex combs like transcriptional regulator 1
B3GNT1
CHMP1A charged multivesicular body protein 1A
CSPP1 centrosome and spindle pole associated protein 1
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
FH fumarate hydratase
FKRP fukutin related protein
FKTN fukutin
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
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
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PIEZO2 piezo-type mechanosensitive ion channel component 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
TMEM216 transmembrane protein 216
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