abnormality of the posterior cranial fossa Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. (Human Phenotype Ontology, HP_0000932)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000932
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Genes

84 genes associated with the abnormality of the posterior cranial fossa phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABAT 4-aminobutyrate aminotransferase
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
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
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL4A1 collagen, type IV, alpha 1
CSPP1 centrosome and spindle pole associated protein 1
DHCR7 7-dehydrocholesterol reductase
DOK7 docking protein 7
EBP emopamil binding protein (sterol isomerase)
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FGFR2 fibroblast growth factor receptor 2
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FLVCR2 feline leukemia virus subgroup C cellular receptor family, member 2
FTO fat mass and obesity associated
GDF6 growth differentiation factor 6
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPC4 glypican 4
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
LARGE like-glycosyltransferase
MKS1 Meckel syndrome, type 1
NOTCH2 notch 2
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
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
VSX1 visual system homeobox 1
WDPCP WD repeat containing planar cell polarity effector
ZBTB20 zinc finger and BTB domain containing 20
ZSWIM6 zinc finger, SWIM-type containing 6