Trait
Big calvaria
Clinical name: Macrocephaly
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Summary
- Also called
- Big cranium, Big head, Big skull, Increased size of head, Increased size of skull, Large head, Large head circumference, Large skull, Increased size of cranium, Macrocephalus, Macrocrania, Megacephaly
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Big calvaria is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Always | In 1 condition |
| ANKHANKH inorganic pyrophosphate transport regulator | Always | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Always | In 2 conditions |
| AQP4aquaporin 4 | Always | In 1 condition |
| ASH1LASH1 like histone lysine methyltransferase | Always | In 1 condition |
| ASXL2ASXL transcriptional regulator 2 | Always | In 1 condition |
| AXIN1axin 1 | Always | In 1 condition |
| B4GALT1beta-1,4-galactosyltransferase 1 | Always | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Always | In 4 conditions |
| CNTNAP2contactin associated protein 2 | Always | In 1 condition |
| CWC27CWC27 spliceosome associated cyclophilin | Always | In 1 condition |
| DICER1dicer 1, ribonuclease III | Always | In 1 condition |
| DSTdystonin | Always | In 1 condition |
| DVL1dishevelled segment polarity protein 1 | Always | In 3 conditions |
| EEDembryonic ectoderm development | Always | In 1 condition |
| EIF4A2eukaryotic translation initiation factor 4A2 | Always | In 1 condition |
| EML1EMAP like 1 | Always | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Always | In 2 conditions |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Always | In 2 conditions |
| FBN1fibrillin 1 | Always | In 1 condition |
| FEM1Bfem-1 homolog B | Always | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Always | In 10 conditions |
| FIBPFGF1 intracellular binding protein | Always | In 2 conditions |
| FLNAfilamin A | Always | In 1 condition |
| GANgigaxonin | Always | In 1 condition |
| GNB2G protein subunit beta 2 | Always | In 1 condition |
| GNSglucosamine (N-acetyl)-6-sulfatase | Always | In 1 condition |
| GPRC5BG protein-coupled receptor class C group 5 member B | Always | In 1 condition |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Always | In 1 condition |
| HEPACAMhepatic and glial cell adhesion molecule | Always | In 4 conditions |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Always | In 2 conditions |
| IDUAalpha-L-iduronidase | Always | In 1 condition |
| IFT74intraflagellar transport 74 | Always | In 1 condition |
| IGBP1immunoglobulin binding protein 1 | Always | In 2 conditions |
| IL6STinterleukin 6 cytokine family signal transducer | Always | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KDM2Blysine demethylase 2B | Always | In 1 condition |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| KIF7kinesin family member 7 | Always | In 4 conditions |
| LRRC7leucine rich repeat containing 7 | Always | In 1 condition |
Show 386 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| MITFmelanocyte inducing transcription factor | Always | In 1 condition |
| MLC1modulator of VRAC current 1 | Always | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Always | In 3 conditions |
| NFIAnuclear factor I A | Always | In 2 conditions |
| NFIXnuclear factor I X | Always | In 2 conditions |
| NONOnon-POU domain containing octamer binding | Always | In 1 condition |
| ODC1ornithine decarboxylase 1 | Always | In 2 conditions |
| PDSS1decaprenyl diphosphate synthase subunit 1 | Always | In 1 condition |
| PLECplectin | Always | In 1 condition |
| PLGplasminogen | Always | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Always | In 1 condition |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Always | In 1 condition |
| RIN2Ras and Rab interactor 2 | Always | In 1 condition |
| RNF125ring finger protein 125 | Always | In 1 condition |
| RRAGCRas related GTP binding C | Always | In 1 condition |
| SONSON DNA and RNA binding protein | Always | In 1 condition |
| SPIN4spindlin family member 4 | Always | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | Always | In 3 conditions |
| TBC1D7TBC1 domain family member 7 | Always | In 2 conditions |
| TBX15T-box transcription factor 15 | Always | In 2 conditions |
| TCF20transcription factor 20 | Always | In 1 condition |
| THOC2THO complex subunit 2 | Always | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Always | In 2 conditions |
| ZFXzinc finger protein X-linked | Always | In 1 condition |
| ADKadenosine kinase | Very often (80–99%) | In 1 condition |
| AKT3AKT serine/threonine kinase 3 | Very often (80–99%) | In 3 conditions |
| ANTXR2ANTXR cell adhesion molecule 2 | Very often (80–99%) | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Very often (80–99%) | In 1 condition |
| ASPAaspartoacylase | Very often (80–99%) | In 3 conditions |
| B4GALT7beta-1,4-galactosyltransferase 7 | Very often (80–99%) | In 2 conditions |
| CCND2cyclin D2 | Very often (80–99%) | In 2 conditions |
| CHD4chromodomain helicase DNA binding protein 4 | Very often (80–99%) | In 1 condition |
| CLCN7Cl-/H+ antiporter 7 | Very often (80–99%) | In 2 conditions |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Very often (80–99%) | In 1 condition |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Very often (80–99%) | In 1 condition |
| DMPKDM1 protein kinase | Very often (80–99%) | In 1 condition |
| DNMT3ADNA methyltransferase 3 alpha | Very often (80–99%) | In 2 conditions |
| FAM177A1family with sequence similarity 177 member A1 | Very often (80–99%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Very often (80–99%) | In 1 condition |
| GLI3GLI family zinc finger 3 | Very often (80–99%) | In 4 conditions |
| GPC3glypican 3 | Very often (80–99%) | In 2 conditions |
| GPC4glypican 4 | Very often (80–99%) | In 3 conditions |
| GUSBglucuronidase beta | Very often (80–99%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Very often (80–99%) | In 2 conditions |
| IDSiduronate 2-sulfatase | Very often (80–99%) | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Very often (80–99%) | In 3 conditions |
| KPTNkaptin, actin binding protein | Very often (80–99%) | In 2 conditions |
| LRP5LDL receptor related protein 5 | Very often (80–99%) | In 1 condition |
| MACROH2A1macroH2A.1 histone | Very often (80–99%) | In 1 condition |
| MED12mediator complex subunit 12 | Very often (80–99%) | In 3 conditions |
| MEGF8multiple EGF like domains 8 | Very often (80–99%) | In 1 condition |
| NFIBnuclear factor I B | Very often (80–99%) | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Very often (80–99%) | In 4 conditions |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Very often (80–99%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Very often (80–99%) | In 3 conditions |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Very often (80–99%) | In 2 conditions |
| PITX1paired like homeodomain 1 | Very often (80–99%) | In 1 condition |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Very often (80–99%) | In 2 conditions |
| PTCH1patched 1 | Very often (80–99%) | In 8 conditions |
| PTDSS1phosphatidylserine synthase 1 | Very often (80–99%) | In 1 condition |
| PTENphosphatase and tensin homolog | Very often (80–99%) | In 7 conditions |
| RAB23RAB23, member RAS oncogene family | Very often (80–99%) | In 1 condition |
| RAB39BRAB39B, member RAS oncogene family | Very often (80–99%) | In 3 conditions |
| RNF135ring finger protein 135 | Very often (80–99%) | In 1 condition |
| SEC24DSEC24 homolog D, COPII component | Very often (80–99%) | In 1 condition |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Very often (80–99%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Very often (80–99%) | In 2 conditions |
| SLC29A3solute carrier family 29 member 3 | Very often (80–99%) | In 1 condition |
| SLC35D1solute carrier family 35 member D1 | Very often (80–99%) | In 2 conditions |
| SNX10sorting nexin 10 | Very often (80–99%) | In 2 conditions |
| SOSTsclerostin | Very often (80–99%) | In 2 conditions |
| SOX9SRY-box transcription factor 9 | Very often (80–99%) | In 2 conditions |
| SP7Sp7 transcription factor | Very often (80–99%) | In 1 condition |
| STRADASTE20 related adaptor alpha | Very often (80–99%) | In 2 conditions |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Very often (80–99%) | In 2 conditions |
| SYN1synapsin I | Very often (80–99%) | In 2 conditions |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Very often (80–99%) | In 3 conditions |
| TMCO1transmembrane and coiled-coil domains 1 | Very often (80–99%) | In 2 conditions |
| TNFRSF11ATNF receptor superfamily member 11a | Very often (80–99%) | In 2 conditions |
| TNFRSF11BTNF receptor superfamily member 11b | Very often (80–99%) | In 2 conditions |
| TNFSF11TNF superfamily member 11 | Very often (80–99%) | In 1 condition |
| TRIM37tripartite motif containing 37 | Very often (80–99%) | In 1 condition |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Very often (80–99%) | In 2 conditions |
| ZBTB7Azinc finger and BTB domain containing 7A | Very often (80–99%) | In 1 condition |
| ZDHHC9zDHHC palmitoyltransferase 9 | Very often (80–99%) | In 1 condition |
| ZIC1Zic family zinc finger 1 | Very often (80–99%) | In 1 condition |
| ZIC4Zic family zinc finger 4 | Very often (80–99%) | In 1 condition |
| ABCC9ATP binding cassette subfamily C member 9 | Often (30–79%) | In 2 conditions |
| ADGRL1adhesion G protein-coupled receptor L1 | Often (30–79%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Often (30–79%) | In 1 condition |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Often (30–79%) | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Often (30–79%) | In 2 conditions |
| ARSBarylsulfatase B | Often (30–79%) | In 1 condition |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Often (30–79%) | In 1 condition |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Often (30–79%) | In 1 condition |
| BICD2BICD cargo adaptor 2 | Often (30–79%) | In 1 condition |
| BMP2bone morphogenetic protein 2 | Often (30–79%) | In 1 condition |
| BMPR1Abone morphogenetic protein receptor type 1A | Often (30–79%) | In 1 condition |
| BRWD3bromodomain and WD repeat domain containing 3 | Often (30–79%) | In 1 condition |
| CCDC22CCC complex scaffolding subunit CCDC22 | Often (30–79%) | In 1 condition |
| CCNKcyclin K | Often (30–79%) | In 1 condition |
| CDCA7cell division cycle associated 7 | Often (30–79%) | In 1 condition |
| CDH2cadherin 2 | Often (30–79%) | In 1 condition |
| CHD1chromodomain helicase DNA binding protein 1 | Often (30–79%) | In 2 conditions |
| CHD3chromodomain helicase DNA binding protein 3 | Often (30–79%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Often (30–79%) | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Often (30–79%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Often (30–79%) | In 2 conditions |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Often (30–79%) | In 1 condition |
| CTNNB1catenin beta 1 | Often (30–79%) | In 1 condition |
| CUL4Bcullin 4B | Often (30–79%) | In 1 condition |
| DAG1dystroglycan 1 | Often (30–79%) | In 2 conditions |
| DNMT3BDNA methyltransferase 3 beta | Often (30–79%) | In 1 condition |
| DPH2diphthamide biosynthesis 2 | Often (30–79%) | In 1 condition |
| DPYDdihydropyrimidine dehydrogenase | Often (30–79%) | In 2 conditions |
| DPYSL5dihydropyrimidinase like 5 | Often (30–79%) | In 1 condition |
| DVL3dishevelled segment polarity protein 3 | Often (30–79%) | In 2 conditions |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Often (30–79%) | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Often (30–79%) | In 2 conditions |
| DYNC2I2dynein 2 intermediate chain 2 | Often (30–79%) | In 1 condition |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Often (30–79%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 3 conditions |
| FKRPfukutin related protein | Often (30–79%) | In 1 condition |
| FKTNfukutin | Often (30–79%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Often (30–79%) | In 1 condition |
| FMR1fragile X messenger ribonucleoprotein 1 | Often (30–79%) | In 2 conditions |
| FOXP1forkhead box P1 | Often (30–79%) | In 2 conditions |
| FZD2frizzled class receptor 2 | Often (30–79%) | In 1 condition |
| GCDHglutaryl-CoA dehydrogenase | Often (30–79%) | In 1 condition |
| GNAI3G protein subunit alpha i3 | Often (30–79%) | In 2 conditions |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Often (30–79%) | In 1 condition |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Often (30–79%) | In 1 condition |
| HELLShelicase, lymphoid specific | Often (30–79%) | In 1 condition |
| HEXBhexosaminidase subunit beta | Often (30–79%) | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Often (30–79%) | In 1 condition |
| IFT43intraflagellar transport 43 | Often (30–79%) | In 1 condition |
| IFT80intraflagellar transport 80 | Often (30–79%) | In 1 condition |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Often (30–79%) | In 1 condition |
| KDM1Alysine demethylase 1A | Often (30–79%) | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 5 conditions |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Often (30–79%) | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Often (30–79%) | In 1 condition |
| LBRlamin B receptor | Often (30–79%) | In 2 conditions |
| LRP2LDL receptor related protein 2 | Often (30–79%) | In 2 conditions |
| MAB21L2mab-21 like 2 | Often (30–79%) | In 1 condition |
| MAN1B1mannosidase alpha class 1B member 1 | Often (30–79%) | In 1 condition |
| MAN2C1mannosidase alpha class 2C member 1 | Often (30–79%) | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Often (30–79%) | In 2 conditions |
| MAP2K2mitogen-activated protein kinase kinase 2 | Often (30–79%) | In 2 conditions |
| MAXMYC associated transcriptional regulator X | Often (30–79%) | In 1 condition |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Often (30–79%) | In 1 condition |
| NAA60N-alpha-acetyltransferase 60, NatF catalytic subunit | Often (30–79%) | In 1 condition |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Often (30–79%) | In 1 condition |
| NF1neurofibromin 1 | Often (30–79%) | In 3 conditions |
| NKX2-5NK2 homeobox 5 | Often (30–79%) | In 1 condition |
| NLRP3NLR family pyrin domain containing 3 | Often (30–79%) | In 2 conditions |
| NOTCH2notch receptor 2 | Often (30–79%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| NXNnucleoredoxin | Often (30–79%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Often (30–79%) | In 2 conditions |
| OPHN1oligophrenin 1 | Often (30–79%) | In 1 condition |
| PCGF2polycomb group ring finger 2 | Often (30–79%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Often (30–79%) | In 3 conditions |
| PEX10peroxisomal biogenesis factor 10 | Often (30–79%) | In 2 conditions |
| PEX11Bperoxisomal biogenesis factor 11 beta | Often (30–79%) | In 2 conditions |
| PEX12peroxisomal biogenesis factor 12 | Often (30–79%) | In 2 conditions |
| PEX13peroxisomal biogenesis factor 13 | Often (30–79%) | In 2 conditions |
| PEX14peroxisomal biogenesis factor 14 | Often (30–79%) | In 2 conditions |
| PEX16peroxisomal biogenesis factor 16 | Often (30–79%) | In 2 conditions |
| PEX19peroxisomal biogenesis factor 19 | Often (30–79%) | In 2 conditions |
| PEX2peroxisomal biogenesis factor 2 | Often (30–79%) | In 2 conditions |
| PEX26peroxisomal biogenesis factor 26 | Often (30–79%) | In 2 conditions |
| PEX3peroxisomal biogenesis factor 3 | Often (30–79%) | In 2 conditions |
| PEX5peroxisomal biogenesis factor 5 | Often (30–79%) | In 2 conditions |
| PEX6peroxisomal biogenesis factor 6 | Often (30–79%) | In 3 conditions |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Often (30–79%) | In 1 condition |
| PKDCCprotein kinase domain containing, cytoplasmic | Often (30–79%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Often (30–79%) | In 1 condition |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Often (30–79%) | In 1 condition |
| POMKprotein O-mannose kinase | Often (30–79%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Often (30–79%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Often (30–79%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Often (30–79%) | In 1 condition |
| PPFIA3PPFI scaffold protein A3 | Often (30–79%) | In 1 condition |
| PTCH2patched 2 | Often (30–79%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Often (30–79%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Often (30–79%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| ROBO3roundabout guidance receptor 3 | Often (30–79%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Often (30–79%) | In 2 conditions |
| RXYLT1ribitol xylosyltransferase 1 | Often (30–79%) | In 1 condition |
| SH2B1SH2B adaptor protein 1 | Often (30–79%) | In 1 condition |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Often (30–79%) | In 1 condition |
| SHPKsedoheptulokinase | Often (30–79%) | In 1 condition |
| SIM1SIM bHLH transcription factor 1 | Often (30–79%) | In 1 condition |
| SIX2SIX homeobox 2 | Often (30–79%) | In 1 condition |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Often (30–79%) | In 1 condition |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Often (30–79%) | In 1 condition |
| SPTSSAserine palmitoyltransferase small subunit A | Often (30–79%) | In 1 condition |
| SUMF1sulfatase modifying factor 1 | Often (30–79%) | In 1 condition |
| TAOK1TAO kinase 1 | Often (30–79%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Often (30–79%) | In 2 conditions |
| TFE3transcription factor binding to IGHM enhancer 3 | Often (30–79%) | In 1 condition |
| TMEM53transmembrane protein 53 | Often (30–79%) | In 1 condition |
| TRIOtrio Rho guanine nucleotide exchange factor | Often (30–79%) | In 1 condition |
| UBE2Aubiquitin conjugating enzyme E2 A | Often (30–79%) | In 2 conditions |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Often (30–79%) | In 1 condition |
| VPS35LVPS35 endosomal protein sorting factor like | Often (30–79%) | In 1 condition |
| WASHC5WASH complex subunit 5 | Often (30–79%) | In 1 condition |
| WDR35WD repeat domain 35 | Often (30–79%) | In 2 conditions |
| WNT5AWnt family member 5A | Often (30–79%) | In 2 conditions |
| ZBTB20zinc finger and BTB domain containing 20 | Often (30–79%) | In 1 condition |
| ZBTB24zinc finger and BTB domain containing 24 | Often (30–79%) | In 1 condition |
| ZBTB42zinc finger and BTB domain containing 42 | Often (30–79%) | In 1 condition |
| ACADMacyl-CoA dehydrogenase medium chain | Sometimes (5–29%) | In 1 condition |
| AFF2ALF transcription elongation factor 2 | Sometimes (5–29%) | In 1 condition |
| AGGF1angiogenic factor with G-patch and FHA domains 1 | Sometimes (5–29%) | In 1 condition |
| AKT1AKT serine/threonine kinase 1 | Sometimes (5–29%) | In 2 conditions |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Sometimes (5–29%) | In 1 condition |
| ANK3ankyrin 3 | Sometimes (5–29%) | In 1 condition |
| ANKRD17ankyrin repeat domain 17 | Sometimes (5–29%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Sometimes (5–29%) | In 1 condition |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Sometimes (5–29%) | In 1 condition |
| CAMTA1calmodulin binding transcription activator 1 | Sometimes (5–29%) | In 2 conditions |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sometimes (5–29%) | In 1 condition |
| CDC42BPBCDC42 binding protein kinase beta | Sometimes (5–29%) | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Sometimes (5–29%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Sometimes (5–29%) | In 4 conditions |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Sometimes (5–29%) | In 1 condition |
| CLCN3Cl-/H+ antiporter 3 | Sometimes (5–29%) | In 1 condition |
| CLCN4Cl-/H+ antiporter 4 | Sometimes (5–29%) | In 1 condition |
| CRELD1CRELD disulfide isomerase 1 | Sometimes (5–29%) | In 1 condition |
| CRIPTOcripto, EGF-CFC family member | Sometimes (5–29%) | In 4 conditions |
| DEAF1DEAF1 transcription factor | Sometimes (5–29%) | In 1 condition |
| DHCR2424-dehydrocholesterol reductase | Sometimes (5–29%) | In 2 conditions |
| DHRS3dehydrogenase/reductase 3 | Sometimes (5–29%) | In 1 condition |
| DISP1dispatched RND transporter family member 1 | Sometimes (5–29%) | In 4 conditions |
| DLL1delta like canonical Notch ligand 1 | Sometimes (5–29%) | In 5 conditions |
| DLL3delta like canonical Notch ligand 3 | Sometimes (5–29%) | In 1 condition |
| DOCK6dedicator of cytokinesis 6 | Sometimes (5–29%) | In 1 condition |
| DPYSdihydropyrimidinase | Sometimes (5–29%) | In 1 condition |
| EDN1endothelin 1 | Sometimes (5–29%) | In 1 condition |
| ERFETS2 repressor factor | Sometimes (5–29%) | In 1 condition |
| ERMARDER membrane associated RNA degradation | Sometimes (5–29%) | In 1 condition |
| FAM149B1family with sequence similarity 149 member B1 | Sometimes (5–29%) | In 1 condition |
| FAR1fatty acyl-CoA reductase 1 | Sometimes (5–29%) | In 1 condition |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| FBXW7F-box and WD repeat domain containing 7 | Sometimes (5–29%) | In 1 condition |
| FGF8fibroblast growth factor 8 | Sometimes (5–29%) | In 4 conditions |
| FIG4FIG4 phosphoinositide 5-phosphatase | Sometimes (5–29%) | In 1 condition |
| FOXH1forkhead box H1 | Sometimes (5–29%) | In 4 conditions |
| FOXP2forkhead box P2 | Sometimes (5–29%) | In 1 condition |
| GAD1glutamate decarboxylase 1 | Sometimes (5–29%) | In 1 condition |
| GAS1growth arrest specific 1 | Sometimes (5–29%) | In 4 conditions |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 4 conditions |
| GNAQG protein subunit alpha q | Sometimes (5–29%) | In 2 conditions |
| GNB1G protein subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Sometimes (5–29%) | In 2 conditions |
| H3-3AH3.3 histone A | Sometimes (5–29%) | In 1 condition |
| H3-3BH3.3 histone B | Sometimes (5–29%) | In 1 condition |
| HDAC4histone deacetylase 4 | Sometimes (5–29%) | In 1 condition |
| HES7hes family bHLH transcription factor 7 | Sometimes (5–29%) | In 1 condition |
| HOXD13homeobox D13 | Sometimes (5–29%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Sometimes (5–29%) | In 1 condition |
| IHHIndian hedgehog signaling molecule | Sometimes (5–29%) | In 1 condition |
| INPP5Einositol polyphosphate-5-phosphatase E | Sometimes (5–29%) | In 2 conditions |
| JARID2jumonji and AT-rich interaction domain containing 2 | Sometimes (5–29%) | In 1 condition |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Sometimes (5–29%) | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Sometimes (5–29%) | In 1 condition |
| KDM5Clysine demethylase 5C | Sometimes (5–29%) | In 2 conditions |
| KICS2KICSTOR subunit 2 | Sometimes (5–29%) | In 1 condition |
| KMT5Blysine methyltransferase 5B | Sometimes (5–29%) | In 1 condition |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Sometimes (5–29%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Sometimes (5–29%) | In 2 conditions |
| MECP2methyl-CpG binding protein 2 | Sometimes (5–29%) | In 1 condition |
| MESP2mesoderm posterior bHLH transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| MSL2MSL complex subunit 2 | Sometimes (5–29%) | In 1 condition |
| MSX2msh homeobox 2 | Sometimes (5–29%) | In 2 conditions |
| MYH8myosin heavy chain 8 | Sometimes (5–29%) | In 1 condition |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Sometimes (5–29%) | In 1 condition |
| NODALnodal growth differentiation factor | Sometimes (5–29%) | In 4 conditions |
| NOTCH3notch receptor 3 | Sometimes (5–29%) | In 1 condition |
| OTUD5OTU deubiquitinase 5 | Sometimes (5–29%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Sometimes (5–29%) | In 1 condition |
| PHF21APHD finger protein 21A | Sometimes (5–29%) | In 1 condition |
| PHF6PHD finger protein 6 | Sometimes (5–29%) | In 1 condition |
| PIBF1progesterone immunomodulatory binding factor 1 | Sometimes (5–29%) | In 1 condition |
| PLCB4phospholipase C beta 4 | Sometimes (5–29%) | In 2 conditions |
| PLCH1phospholipase C eta 1 | Sometimes (5–29%) | In 2 conditions |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Sometimes (5–29%) | In 1 condition |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| PTHLHparathyroid hormone like hormone | Sometimes (5–29%) | In 1 condition |
| RAB34RAB34, member RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| RAC1Rac family small GTPase 1 | Sometimes (5–29%) | In 2 conditions |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| RFX7regulatory factor X7 | Sometimes (5–29%) | In 1 condition |
| RIPPLY2ripply transcriptional repressor 2 | Sometimes (5–29%) | In 1 condition |
| RNU5B-1RNA, U5B small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| RPGRIP1LRPGRIP1 like | Sometimes (5–29%) | In 1 condition |
| RUNX2RUNX family transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| SATB2SATB homeobox 2 | Sometimes (5–29%) | In 1 condition |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Sometimes (5–29%) | In 4 conditions |
| SIX3SIX homeobox 3 | Sometimes (5–29%) | In 4 conditions |
| SLC25A1solute carrier family 25 member 1 | Sometimes (5–29%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Sometimes (5–29%) | In 1 condition |
| SLC2A10solute carrier family 2 member 10 | Sometimes (5–29%) | In 1 condition |
| SLC39A14solute carrier family 39 member 14 | Sometimes (5–29%) | In 1 condition |
| SMAD4SMAD family member 4 | Sometimes (5–29%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Sometimes (5–29%) | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Sometimes (5–29%) | In 1 condition |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Sometimes (5–29%) | In 1 condition |
| SPRED1sprouty related EVH1 domain containing 1 | Sometimes (5–29%) | In 2 conditions |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sometimes (5–29%) | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Sometimes (5–29%) | In 1 condition |
| SRPK3SRSF protein kinase 3 | Sometimes (5–29%) | In 1 condition |
| SRRM2serine/arginine repetitive matrix 2 | Sometimes (5–29%) | In 1 condition |
| STAG2STAG2 cohesin complex component | Sometimes (5–29%) | In 2 conditions |
| STILSTIL centriolar assembly protein | Sometimes (5–29%) | In 4 conditions |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Sometimes (5–29%) | In 1 condition |
| STX4syntaxin 4 | Sometimes (5–29%) | In 1 condition |
| TBC1D32TBC1 domain family member 32 | Sometimes (5–29%) | In 1 condition |
| TBX6T-box transcription factor 6 | Sometimes (5–29%) | In 2 conditions |
| TCP1t-complex 1 | Sometimes (5–29%) | In 1 condition |
| TET3tet methylcytosine dioxygenase 3 | Sometimes (5–29%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Sometimes (5–29%) | In 4 conditions |
| TMEM67transmembrane protein 67 | Sometimes (5–29%) | In 1 condition |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Sometimes (5–29%) | In 1 condition |
| TRAF7TNF receptor associated factor 7 | Sometimes (5–29%) | In 1 condition |
| TUBA1Atubulin alpha 1a | Sometimes (5–29%) | In 1 condition |
| TUBB2Btubulin beta 2B class IIb | Sometimes (5–29%) | In 1 condition |
| TUBB3tubulin beta 3 class III | Sometimes (5–29%) | In 2 conditions |
| UBE3Aubiquitin protein ligase E3A | Sometimes (5–29%) | In 1 condition |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Sometimes (5–29%) | In 1 condition |
| YME1L1YME1 like 1 ATPase | Sometimes (5–29%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Sometimes (5–29%) | In 4 conditions |
| ZSWIM6zinc finger SWIM-type containing 6 | Sometimes (5–29%) | In 1 condition |
| ACADVLacyl-CoA dehydrogenase very long chain | Rarely (1–4%) | In 1 condition |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rarely (1–4%) | In 1 condition |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Rarely (1–4%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Rarely (1–4%) | In 2 conditions |
| MYT1Lmyelin transcription factor 1 like | Rarely (1–4%) | In 1 condition |
| NALCNsodium leak channel, non-selective | Rarely (1–4%) | In 1 condition |
| NEU1neuraminidase 1 | Rarely (1–4%) | In 1 condition |
| POU4F1POU class 4 homeobox 1 | Rarely (1–4%) | In 1 condition |
| ARL6ARF like GTPase 6 | Not recorded | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Not recorded | In 1 condition |
| BLTP1bridge-like lipid transfer protein family member 1 | Not recorded | In 1 condition |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Not recorded | In 1 condition |
| CCDC28Bcoiled-coil domain containing 28B | Not recorded | In 1 condition |
| CSF1Rcolony stimulating factor 1 receptor | Not recorded | In 1 condition |
| D2HGDHD-2-hydroxyglutarate dehydrogenase | Not recorded | In 1 condition |
| ETFAelectron transfer flavoprotein subunit alpha | Not recorded | In 1 condition |
| ETFBelectron transfer flavoprotein subunit beta | Not recorded | In 1 condition |
| ETFDHelectron transfer flavoprotein dehydrogenase | Not recorded | In 1 condition |
| FAM111AFAM111 trypsin like peptidase A | Not recorded | In 1 condition |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Not recorded | In 1 condition |
| GJA1gap junction protein alpha 1 | Not recorded | In 1 condition |
| H1-4H1.4 linker histone, cluster member | Not recorded | In 1 condition |
| HDAC6histone deacetylase 6 | Not recorded | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Not recorded | In 1 condition |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Not recorded | In 1 condition |
| KLLNkillin, p53 regulated DNA replication inhibitor | Not recorded | In 1 condition |
| KMT2Elysine methyltransferase 2E (inactive) | Not recorded | In 1 condition |
| L1CAML1 cell adhesion molecule | Not recorded | In 2 conditions |
| LAMB1laminin subunit beta 1 | Not recorded | In 1 condition |
| LRP4LDL receptor related protein 4 | Not recorded | In 1 condition |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Not recorded | In 1 condition |
| MOCS1molybdenum cofactor synthesis 1 | Not recorded | In 1 condition |
| MOCS2molybdenum cofactor synthesis 2 | Not recorded | In 1 condition |
| MTM1myotubularin 1 | Not recorded | In 1 condition |
| MYMKmyomaker, myoblast fusion factor | Not recorded | In 1 condition |
| NKX3-2NK3 homeobox 2 | Not recorded | In 1 condition |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Not recorded | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Not recorded | In 1 condition |
| POC1APOC1 centriolar protein A | Not recorded | In 1 condition |
| POLR3ARNA polymerase III subunit A | Not recorded | In 1 condition |
| SEC23ASEC23 homolog A, COPII component | Not recorded | In 1 condition |
| SEC23BSEC23 homolog B, COPII component | Not recorded | In 1 condition |
| SETD2SET domain containing 2, histone lysine methyltransferase | Not recorded | In 1 condition |
| SMOsmoothened, frizzled class receptor | Not recorded | In 1 condition |
| TBL1Xtransducin beta like 1 X-linked | Not recorded | In 1 condition |
| TMEM216transmembrane protein 216 | Not recorded | In 1 condition |
| TMEM94transmembrane protein 94 | Not recorded | In 1 condition |
| ZNF469zinc finger protein 469 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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