Relative Macrocephaly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. (Human Phenotype Ontology, HP_0004482)
External Link https://www.disgenet.org/browser/0/1/0/C1849075
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Genes

47 genes associated with the disease Relative Macrocephaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ACER3 alkaline ceramidase 3
ADNP activity-dependent neuroprotector homeobox
APC adenomatous polyposis coli
APC2 adenomatosis polyposis coli 2
ARID1B AT rich interactive domain 1B (SWI1-like)
BRAF B-Raf proto-oncogene, serine/threonine kinase
CDK13 cyclin-dependent kinase 13
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEP120 centrosomal protein 120kDa
COG4 component of oligomeric golgi complex 4
CUL4B cullin 4B
DEAF1 DEAF1 transcription factor
DHCR24 24-dehydrocholesterol reductase
FAM69A family with sequence similarity 69, member A
FBN1 fibrillin 1
FH fumarate hydratase
FOXN1 forkhead box N1
GHR growth hormone receptor
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
IFT81 intraflagellar transport 81
IGF2 insulin-like growth factor 2
IHH indian hedgehog
ITCH itchy E3 ubiquitin protein ligase
NF1 neurofibromin 1
NONO non-POU domain containing, octamer-binding
NRXN3 neurexin 3
NXN nucleoredoxin
OBSL1 obscurin-like 1
PCGF2 polycomb group ring finger 2
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
PTDSS1 phosphatidylserine synthase 1
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RIT1 Ras-like without CAAX 1
RPL5 ribosomal protein L5
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SNX14 sorting nexin 14
SON SON DNA binding protein
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
THRA thyroid hormone receptor, alpha
TMCO1 transmembrane and coiled-coil domains 1
TONSL tonsoku-like, DNA repair protein
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
XYLT1 xylosyltransferase I
ZMPSTE24 zinc metallopeptidase STE24