Cerebellar Hypoplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Underdevelopment of the cerebellum. (Human Phenotype Ontology, HP_0001321)
External Link https://www.disgenet.org/browser/0/1/0/C0266470
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Genes

223 genes associated with the disease Cerebellar Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABAT 4-aminobutyrate aminotransferase
ACD adrenocortical dysplasia homolog (mouse)
ADGRG1 adhesion G protein-coupled receptor G1
AFG3L2 AFG3-like AAA ATPase 2
AHCY adenosylhomocysteinase
AIRE autoimmune regulator
ARID1A AT rich interactive domain 1A (SWI-like)
ARSI arylsulfatase family, member I
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ATAD3A ATPase family, AAA domain containing 3A
ATAD3B ATPase family, AAA domain containing 3B
ATCAY ataxia, cerebellar, Cayman type
ATG5 autophagy related 5
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP5F1A ATP synthase F1 subunit alpha
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
ATRIP ATR interacting protein
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
BICD2 bicaudal D homolog 2 (Drosophila)
BRF1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C2CD3 C2 calcium-dependent domain containing 3
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit
CAMTA1 calmodulin binding transcription activator 1
CARS2 cysteinyl-tRNA synthetase 2, mitochondrial (putative)
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAT catalase
CCDC22 coiled-coil domain containing 22
CDC42 cell division cycle 42
CDK5 cyclin-dependent kinase 5
CENPE centromere protein E, 312kDa
CENPF centromere protein F, 350/400kDa
CEP104 centrosomal protein 104kDa
CEP120 centrosomal protein 120kDa
CEP55 centrosomal protein 55kDa
CHD7 chromodomain helicase DNA binding protein 7
CHMP1A charged multivesicular body protein 1A
CIT citron rho-interacting serine/threonine kinase
COASY CoA synthase
COL3A1 collagen, type III, alpha 1
COL4A1 collagen, type IV, alpha 1
CSF1R colony stimulating factor 1 receptor
CSPP1 centrosome and spindle pole associated protein 1
CTNNA2 catenin (cadherin-associated protein), alpha 2
CWF19L1 CWF19-like 1, cell cycle control (S. pombe)
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCX doublecortin
DHFR dihydrofolate reductase
DISC1 disrupted in schizophrenia 1
DKC1 dyskeratosis congenita 1, dyskerin
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EN2 engrailed homeobox 2
EOMES eomesodermin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC1 excision repair cross-complementation group 1
ERCC6 excision repair cross-complementation group 6
ERF Ets2 repressor factor
ERMARD ER membrane-associated RNA degradation
EXOSC3 exosome component 3
EXOSC9 exosome component 9
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FLG filaggrin
FLNA filamin A, alpha
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
FRMD4A FERM domain containing 4A
GAP43 growth associated protein 43
GHRHR growth hormone releasing hormone receptor
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GLI3 GLI family zinc finger 3
GMPPB GDP-mannose pyrophosphorylase B
GPAA1 glycosylphosphatidylinositol anchor attachment 1
GPHN gephyrin
GPSM2 G-protein signaling modulator 2
GPX4 glutathione peroxidase 4
HDAC6 histone deacetylase 6
HESX1 HESX homeobox 1
IFT80 intraflagellar transport 80
INPP5K inositol polyphosphate-5-phosphatase K
ISPD isoprenoid synthase domain containing
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCTD3 potassium channel tetramerization domain containing 3
KIAA0556 KIAA0556
KIAA0586 KIAA0586
KIAA1109 KIAA1109
KIF14 kinesin family member 14
L1CAM L1 cell adhesion molecule
LAMB1 laminin, beta 1
LARGE like-glycosyltransferase
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
MAB21L1 mab-21-like 1 (C. elegans)
MACF1 microtubule-actin crosslinking factor 1
MAN1B1 mannosidase, alpha, class 1B, member 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MAST1 microtubule associated serine/threonine kinase 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MFSD2A major facilitator superfamily domain containing 2A
MKS1 Meckel syndrome, type 1
MSTO1 misato 1, mitochondrial distribution and morphology regulator
MUSK muscle, skeletal, receptor tyrosine kinase
MYO5A myosin VA (heavy chain 12, myoxin)
NDE1 nudE neurodevelopment protein 1
NDUFA6 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NONO non-POU domain containing, octamer-binding
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OCLN occludin
OPHN1 oligophrenin 1
PACS1 phosphofurin acidic cluster sorting protein 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PARN poly(A)-specific ribonuclease
PCLO piccolo presynaptic cytomatrix protein
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDX1 pancreatic and duodenal homeobox 1
PHGDH phosphoglycerate dehydrogenase
PI4KA phosphatidylinositol 4-kinase, catalytic, alpha
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGG phosphatidylinositol glycan anchor biosynthesis, class G
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIGU phosphatidylinositol glycan anchor biosynthesis, class U
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLG plasminogen
PMM2 phosphomannomutase 2
PMPCA peptidase (mitochondrial processing) alpha
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
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
POU1F1 POU class 1 homeobox 1
PRL prolactin
PROP1 PROP paired-like homeobox 1
PSAT1 phosphoserine aminotransferase 1
PTF1A pancreas specific transcription factor, 1a
PTK2 protein tyrosine kinase 2
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RBBP8 retinoblastoma binding protein 8
RBM10 RNA binding motif protein 10
RELN reelin
RHOBTB2 Rho-related BTB domain containing 2
RMDN1 regulator of microtubule dynamics 1
RMDN2 regulator of microtubule dynamics 2
RMDN3 regulator of microtubule dynamics 3
RNF113A ring finger protein 113A
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
ROGDI rogdi homolog (Drosophila)
RTEL1 regulator of telomere elongation helicase 1
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SIL1 SIL1 nucleotide exchange factor
SIX3 SIX homeobox 3
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SNX14 sorting nexin 14
SOD1 superoxide dismutase 1, soluble
SON SON DNA binding protein
SRD5A1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)
STAG2 stromal antigen 2
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
SYBU syntabulin (syntaxin-interacting)
TAPT1 transmembrane anterior posterior transformation 1
TBCK TBC1 domain containing kinase
TCTN2 tectonic family member 2
TERT telomerase reverse transcriptase
THOC2 THO complex 2
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM107 transmembrane protein 107
TMEM5 transmembrane protein 5
TOE1 target of EGR1, member 1 (nuclear)
TP53RK TP53 regulating kinase
TPPP tubulin polymerization promoting protein
TRAPPC9 trafficking protein particle complex 9
TREX1 three prime repair exonuclease 1
TRIP13 thyroid hormone receptor interactor 13
TSEN2 TSEN2 tRNA splicing endonuclease subunit
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TUBA1A tubulin, alpha 1a
TUBB tubulin, beta class I
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
TUBGCP6 tubulin, gamma complex associated protein 6
TWIST1 twist family bHLH transcription factor 1
USP18 ubiquitin specific peptidase 18
USP9X ubiquitin specific peptidase 9, X-linked
VAC14 Vac14 homolog (S. cerevisiae)
VLDLR very low density lipoprotein receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VRK1 vaccinia related kinase 1
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR37 WD repeat domain 37
WDR60 WD repeat domain 60
WDR73 WD repeat domain 73
WDR81 WD repeat domain 81
WNT1 wingless-type MMTV integration site family, member 1
WNT5A wingless-type MMTV integration site family, member 5A
YME1L1 YME1-like 1 ATPase
ZIC1 Zic family member 1
ZIC4 Zic family member 4
ZNF423 zinc finger protein 423