abnormal shape of the occiput Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal shape of occiput. (Human Phenotype Ontology, HP_0011217)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011217
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Genes

57 genes associated with the abnormal shape of the occiput phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALX4 ALX homeobox 4
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
CCDC22 coiled-coil domain containing 22
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CTSK cathepsin K
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DLL3 delta-like 3 (Drosophila)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
ERF Ets2 repressor factor
FLNA filamin A, alpha
FLNB filamin B, beta
GLI3 GLI family zinc finger 3
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HES7 hes family bHLH transcription factor 7
HRAS Harvey rat sarcoma viral oncogene homolog
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
ITCH itchy E3 ubiquitin protein ligase
KAT6B K(lysine) acetyltransferase 6B
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIAA0196 KIAA0196
KIF11 kinesin family member 11
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
MAN2B1 mannosidase, alpha, class 2B, member 1
MECP2 methyl CpG binding protein 2
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
METTL23 methyltransferase like 23
MOGS mannosyl-oligosaccharide glucosidase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NDE1 nudE neurodevelopment protein 1
NOTCH2 notch 2
NSD1 nuclear receptor binding SET domain protein 1
PEX1 peroxisomal biogenesis factor 1
PEX14 peroxisomal biogenesis factor 14
PHGDH phosphoglycerate dehydrogenase
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
TBX6 T-box 6
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TMEM70 transmembrane protein 70
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TWIST1 twist family bHLH transcription factor 1
UBE3A ubiquitin protein ligase E3A
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35