cerebellar cyst Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002350
Similar Terms
Downloads & Tools

Genes

79 genes associated with the cerebellar cyst 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
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
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
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
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
DOCK6 dedicator of cytokinesis 6
DOK7 docking protein 7
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EBP emopamil binding protein (sterol isomerase)
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
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
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
LAMA1 laminin, alpha 1
LARGE like-glycosyltransferase
MKS1 Meckel syndrome, type 1
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
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
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
TBC1D24 TBC1 domain family, member 24
TCTN2 tectonic family member 2
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
WDPCP WD repeat containing planar cell polarity effector
ZSWIM6 zinc finger, SWIM-type containing 6