Macrocephaly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. (Human Phenotype Ontology, HP_0000256)
External Link https://www.disgenet.org/browser/0/1/0/C1836599
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACSL4 acyl-CoA synthetase long-chain family member 4
ADK adenosine kinase
AFF2 AF4/FMR2 family, member 2
AGGF1 angiogenic factor with G patch and FHA domains 1
AGTR2 angiotensin II receptor, type 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALKBH8 alkB, alkylation repair homolog 8 (E. coli)
AMER1 APC membrane recruitment protein 1
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
ANKH ANKH inorganic pyrophosphate transport regulator
ANTXR2 anthrax toxin receptor 2
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
APC2 adenomatosis polyposis coli 2
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
ARSB arylsulfatase B
ARX aristaless related homeobox
ASPA aspartoacylase
ASXL1 additional sex combs like transcriptional regulator 1
ASXL2 additional sex combs like transcriptional regulator 2
ASXL3 additional sex combs like transcriptional regulator 3
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GLCT beta 3-glucosyltransferase
B3GNT1
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BBS1 Bardet-Biedl syndrome 1
BICD2 bicaudal D homolog 2 (Drosophila)
BMP2 bone morphogenetic protein 2
BMPR1A bone morphogenetic protein receptor, type IA
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRWD3 bromodomain and WD repeat domain containing 3
C12ORF57 chromosome 12 open reading frame 57
CACNA1E calcium channel, voltage-dependent, R type, alpha 1E subunit
CAMK2G calcium/calmodulin-dependent protein kinase II gamma
CAMTA1 calmodulin binding transcription activator 1
CASP2 caspase 2, apoptosis-related cysteine peptidase
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
CCDC28B coiled-coil domain containing 28B
CCND2 cyclin D2
CCNK cyclin K
CDCA7 cell division cycle associated 7
CDKL5 cyclin-dependent kinase-like 5
CHD1 chromodomain helicase DNA binding protein 1
CHD3 chromodomain helicase DNA binding protein 3
CHD4 chromodomain helicase DNA binding protein 4
CHD8 chromodomain helicase DNA binding protein 8
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CLCN4 chloride channel, voltage-sensitive 4
CLCN7 chloride channel, voltage-sensitive 7
CNKSR2 connector enhancer of kinase suppressor of Ras 2
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
CRADD CASP2 and RIPK1 domain containing adaptor with death domain
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSF1R colony stimulating factor 1 receptor
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CTDNEP1 CTD nuclear envelope phosphatase 1
CUL4B cullin 4B
CWC27 CWC27 spliceosome-associated protein homolog (S. cerevisiae)
D2HGDH D-2-hydroxyglutarate dehydrogenase
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DGKD diacylglycerol kinase, delta 130kDa
DHCR24 24-dehydrocholesterol reductase
DICER1 dicer 1, ribonuclease type III
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DLG3 discs, large homolog 3 (Drosophila)
DLL3 delta-like 3 (Drosophila)
DMD dystrophin
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DPYD dihydropyrimidine dehydrogenase
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EDN1 endothelin 1
EED embryonic ectoderm development
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
EML1 echinoderm microtubule associated protein like 1
ERMARD ER membrane-associated RNA degradation
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
EXT2 exostosin glycosyltransferase 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FBLN5 fibulin 5
FBN1 fibrillin 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKRP fukutin related protein
FKTN fukutin
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FMR1 fragile X mental retardation 1
FOXG1 forkhead box G1
FOXP1 forkhead box P1
FRMPD4 FERM and PDZ domain containing 4
FTSJ1 FtsJ RNA methyltransferase homolog 1 (E. coli)
FZD2 frizzled class receptor 2
GABARAP GABA(A) receptor-associated protein
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GATAD2B GATA zinc finger domain containing 2B
GCDH glutaryl-CoA dehydrogenase
GDI1 GDP dissociation inhibitor 1
GFAP glial fibrillary acidic protein
GH1 growth hormone 1
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GPC3 glypican 3
GPC4 glypican 4
GRIA3 glutamate receptor, ionotropic, AMPA 3
GUSB glucuronidase, beta
HCFC1 host cell factor C1
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HELLS helicase, lymphoid-specific
HEPACAM hepatic and glial cell adhesion molecule
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
HES7 hes family bHLH transcription factor 7
HEXB hexosaminidase B (beta polypeptide)
HIST1H1E histone cluster 1, H1e
HMGA2 high mobility group AT-hook 2
HMMR hyaluronan-mediated motility receptor (RHAMM)
HOXD13 homeobox D13
HP haptoglobin
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT80 intraflagellar transport 80
IGBP1 immunoglobulin (CD79A) binding protein 1
IHH indian hedgehog
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
IQSEC2 IQ motif and Sec7 domain 2
ISPD isoprenoid synthase domain containing
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCTD13 potassium channel tetramerization domain containing 13
KDM5C lysine (K)-specific demethylase 5C
KIAA1109 KIAA1109
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KLLN killin, p53-regulated DNA replication inhibitor
KMT2E lysine (K)-specific methyltransferase 2E
KPTN kaptin (actin binding protein)
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMB1 laminin, beta 1
LAMC2 laminin, gamma 2
LARGE like-glycosyltransferase
LBR lamin B receptor
LEMD3 LEM domain containing 3
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1
LINGO2 leucine rich repeat and Ig domain containing 2
LOC100996717 uncharacterized LOC100996717
LOC100996763 notch homolog 2 N-terminal-like protein
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
MACROH2A1 macroH2A.1 histone
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK10 mitogen-activated protein kinase 10
MAST1 microtubule associated serine/threonine kinase 1
MCL1 myeloid cell leukemia 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MID2 midline 2
MITF microphthalmia-associated transcription factor
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPDZ multiple PDZ domain protein
MSX2 msh homeobox 2
MTM1 myotubularin 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYC v-myc avian myelocytomatosis viral oncogene homolog
NCAM2 neural cell adhesion molecule 2
NF1 neurofibromin 1
NFIA nuclear factor I/A
NFIB nuclear factor I/B
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NKX3-2 NK3 homeobox 2
NLRC4 NLR family, CARD domain containing 4
NLRP3 NLR family, pyrin domain containing 3
NONO non-POU domain containing, octamer-binding
NOTCH2 notch 2
NOTCH2NL notch 2 N-terminal like
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NT5E 5'-nucleotidase, ecto (CD73)
NTM neurotrimin
NXN nucleoredoxin
ODC1 ornithine decarboxylase 1
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PARVB parvin, beta
PAX1 paired box 1
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PHF6 PHD finger protein 6
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGM phosphatidylinositol glycan anchor biosynthesis, class M
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PITX1 paired-like homeodomain 1
PLCB4 phospholipase C, beta 4
PLG plasminogen
POC1A POC1 centriolar protein A
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
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
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PPP2R5D protein phosphatase 2, regulatory subunit B', delta
PTCH1 patched 1
PTCH2 patched 2
PTCHD1 patched domain containing 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTHLH parathyroid hormone-like hormone
RAB39B RAB39B, member RAS oncogene family
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RHEB Ras homolog enriched in brain
RIN2 Ras and Rab interactor 2
RIPPLY2 ripply transcriptional repressor 2
RNASET2 ribonuclease T2
RNF125 ring finger protein 125, E3 ubiquitin protein ligase
RNF135 ring finger protein 135
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRAS2 related RAS viral (r-ras) oncogene homolog 2
RUNX2 runt-related transcription factor 2
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC23A Sec23 homolog A (S. cerevisiae)
SEC23B Sec23 homolog B (S. cerevisiae)
SEC24D SEC24 family member D
SETD2 SET domain containing 2
SH2B1 SH2B adaptor protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SHPK sedoheptulokinase
SIM1 single-minded family bHLH transcription factor 1
SIX2 SIX homeobox 2
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC9A7 solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMS spermine synthase
SNX10 sorting nexin 10
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
SOX9 SRY (sex determining region Y)-box 9
SPRED1 sprouty-related, EVH1 domain containing 1
STEEP1 STING1 ER exit protein 1
STK3 serine/threonine kinase 3
STRADA STE20-related kinase adaptor alpha
STX16 syntaxin 16
STXBP1 syntaxin binding protein 1
SUFU suppressor of fused homolog (Drosophila)
SULT4A1 sulfotransferase family 4A, member 1
SUMF1 sulfatase modifying factor 1
SUPT16H suppressor of Ty 16 homolog (S. cerevisiae)
SUZ12 SUZ12 polycomb repressive complex 2 subunit
SYN1 synapsin I
SYP synaptophysin
SZT2 seizure threshold 2 homolog (mouse)
TBC1D7 TBC1 domain family, member 7
TBX15 T-box 15
TBX6 T-box 6
TCF12 transcription factor 12
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TET3 tet methylcytosine dioxygenase 3
THRA thyroid hormone receptor, alpha
TMCO1 transmembrane and coiled-coil domains 1
TMEM216 transmembrane protein 216
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMEM8C transmembrane protein 8C
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13
TPTE transmembrane phosphatase with tensin homology
TRIM37 tripartite motif containing 37
TRIP11 thyroid hormone receptor interactor 11
TSC2 tuberous sclerosis 2
TSPAN7 tetraspanin 7
TUBB3 tubulin, beta 3 class III
TWIST1 twist family bHLH transcription factor 1
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
USP27X ubiquitin specific peptidase 27, X-linked
USP9X ubiquitin specific peptidase 9, X-linked
WASHC5 WASH complex subunit 5
WDFY3 WD repeat and FYVE domain containing 3
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WDR81 WD repeat domain 81
WNT5A wingless-type MMTV integration site family, member 5A
YME1L1 YME1-like 1 ATPase
ZBTB20 zinc finger and BTB domain containing 20
ZBTB24 zinc finger and BTB domain containing 24
ZBTB42 zinc finger and BTB domain containing 42
ZBTB7A zinc finger and BTB domain containing 7A
ZDHHC9 zinc finger, DHHC-type containing 9
ZIC1 Zic family member 1
ZNF41 zinc finger protein 41
ZNF469 zinc finger protein 469
ZNF711 zinc finger protein 711
ZNF81 zinc finger protein 81