cerebellar hypoplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment of the cerebellum. (Human Phenotype Ontology, HP_0001321)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001321
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Genes

67 genes associated with the cerebellar hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABAT 4-aminobutyrate aminotransferase
ADGRG1 adhesion G protein-coupled receptor G1
ASNS asparagine synthetase (glutamine-hydrolyzing)
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
BMP4 bone morphogenetic protein 4
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CAMTA1 calmodulin binding transcription activator 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CHMP1A charged multivesicular body protein 1A
DKC1 dyskeratosis congenita 1, dyskerin
DOK7 docking protein 7
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
ERCC1 excision repair cross-complementation group 1
ERCC6 excision repair cross-complementation group 6
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
GMPPB GDP-mannose pyrophosphorylase B
GPSM2 G-protein signaling modulator 2
ISPD isoprenoid synthase domain containing
JAM3 junctional adhesion molecule 3
L1CAM L1 cell adhesion molecule
LAMB1 laminin, beta 1
LARGE like-glycosyltransferase
MGME1 mitochondrial genome maintenance exonuclease 1
MKS1 Meckel syndrome, type 1
NDE1 nudE neurodevelopment protein 1
OCLN occludin
OPHN1 oligophrenin 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAX6 paired box 6
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PLG plasminogen
PMM2 phosphomannomutase 2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAPSN receptor-associated protein of the synapse
RBBP8 retinoblastoma binding protein 8
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
ROGDI rogdi homolog (Drosophila)
RTEL1 regulator of telomere elongation helicase 1
SIX3 SIX homeobox 3
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
TERC telomerase RNA component
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TSEN2 TSEN2 tRNA splicing endonuclease subunit
TSEN34 TSEN34 tRNA splicing endonuclease subunit
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TUBB tubulin, beta class I
TUBB2B tubulin, beta 2B class IIb
VLDLR very low density lipoprotein receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VRK1 vaccinia related kinase 1
WDR81 WD repeat domain 81