aplasia/hypoplasia of the brainstem Gene Set
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
|
