heterotopia Gene Set
Genes
17 genes associated with the heterotopia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ARFGEF2
|
ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
|
|
ASXL1
|
additional sex combs like transcriptional regulator 1
|
|
DHCR7
|
7-dehydrocholesterol reductase
|
|
EPG5
|
ectopic P-granules autophagy protein 5 homolog (C. elegans)
|
|
FGFR3
|
fibroblast growth factor receptor 3
|
|
FLNA
|
filamin A, alpha
|
|
FMR1
|
fragile X mental retardation 1
|
|
GPSM2
|
G-protein signaling modulator 2
|
|
HYLS1
|
hydrolethalus syndrome 1
|
|
KAT6B
|
K(lysine) acetyltransferase 6B
|
|
MED12
|
mediator complex subunit 12
|
|
OFD1
|
oral-facial-digital syndrome 1
|
|
PAFAH1B1
|
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
|
|
PEX1
|
peroxisomal biogenesis factor 1
|
|
RNU4ATAC
|
RNA, U4atac small nuclear (U12-dependent splicing)
|
|
TUBA1A
|
tubulin, alpha 1a
|
|
WDR62
|
WD repeat domain 62
|
