cerebellar malformation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002438
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Genes

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

Symbol Name
AHDC1 AT hook, DNA binding motif, containing 1
AHI1 Abelson helper integration site 1
ALX4 ALX homeobox 4
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ASXL1 additional sex combs like transcriptional regulator 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATR ATR serine/threonine kinase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMP4 bone morphogenetic protein 4
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C5ORF42 chromosome 5 open reading frame 42
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CLIP2 CAP-GLY domain containing linker protein 2
COL4A1 collagen, type IV, alpha 1
CSPP1 centrosome and spindle pole associated protein 1
DHCR7 7-dehydrocholesterol reductase
DOCK6 dedicator of cytokinesis 6
DOK7 docking protein 7
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
ELN elastin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERF Ets2 repressor factor
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKRP fukutin related protein
FKTN fukutin
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
FOXC1 forkhead box C1
FTO fat mass and obesity associated
FUZ fuzzy planar cell polarity protein
GLI3 GLI family zinc finger 3
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GPC3 glypican 3
GPC4 glypican 4
GRM1 glutamate receptor, metabotropic 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HMGA2 high mobility group AT-hook 2
HRAS Harvey rat sarcoma viral oncogene homolog
HYLS1 hydrolethalus syndrome 1
IFT172 intraflagellar transport 172
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ISPD isoprenoid synthase domain containing
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIAA0196 KIAA0196
KIF1A kinesin family member 1A
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
LAMA1 laminin, alpha 1
LARGE like-glycosyltransferase
LEMD3 LEM domain containing 3
LIMK1 LIM domain kinase 1
MKS1 Meckel syndrome, type 1
MPL MPL proto-oncogene, thrombopoietin receptor
MVK mevalonate kinase
NEK1 NIMA-related kinase 1
NOTCH2 notch 2
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
PAX2 paired box 2
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLG plasminogen
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
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
PSAT1 phosphoserine aminotransferase 1
QARS glutaminyl-tRNA synthetase
RAPSN receptor-associated protein of the synapse
RBM10 RNA binding motif protein 10
RFC2 replication factor C (activator 1) 2, 40kDa
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SACS sacsin molecular chaperone
SALL1 spalt-like transcription factor 1
SC5D sterol-C5-desaturase
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SKI SKI proto-oncogene
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
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
SOX11 SRY (sex determining region Y)-box 11
SRD5A3 steroid 5 alpha-reductase 3
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TRAPPC9 trafficking protein particle complex 9
TSEN34 TSEN34 tRNA splicing endonuclease subunit
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TUBA1A tubulin, alpha 1a
VANGL1 VANGL planar cell polarity protein 1
WDPCP WD repeat containing planar cell polarity effector
WDR81 WD repeat domain 81
ZNF423 zinc finger protein 423
ZSWIM6 zinc finger, SWIM-type containing 6