aplasia/hypoplasia of the cerebellar vermis Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the vermis of cerebellum. (Human Phenotype Ontology, HP_0006817)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0006817
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Genes

99 genes associated with the aplasia/hypoplasia of the cerebellar vermis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
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
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
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
COL4A1 collagen, type IV, alpha 1
DHCR7 7-dehydrocholesterol reductase
DOK7 docking protein 7
EBP emopamil binding protein (sterol isomerase)
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
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
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPC4 glypican 4
GRM1 glutamate receptor, metabotropic 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
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
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIAA0196 KIAA0196
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
LAMA1 laminin, alpha 1
LARGE like-glycosyltransferase
MKS1 Meckel syndrome, type 1
MPL MPL proto-oncogene, thrombopoietin receptor
MVK mevalonate kinase
NEK1 NIMA-related kinase 1
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
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
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
PSAT1 phosphoserine aminotransferase 1
RAPSN receptor-associated protein of the synapse
RBM10 RNA binding motif protein 10
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
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
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
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TSEN34 TSEN34 tRNA splicing endonuclease subunit
TUBA1A tubulin, alpha 1a
WDPCP WD repeat containing planar cell polarity effector
WDR81 WD repeat domain 81
ZNF423 zinc finger protein 423