Trait
High forehead
An abnormally increased height of the forehead.
Summary
- Also called
- Tall forehead
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
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Get my Genome Test346 genes linked to High forehead
Changes in these genes cause rare conditions in which High forehead 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 |
|---|---|---|
| ACTBactin beta | Always | In 2 conditions |
| AHDC1AT-hook DNA binding motif containing 1 | Always | In 1 condition |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Always | In 1 condition |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Always | In 1 condition |
| ARID2AT-rich interaction domain 2 | Always | In 1 condition |
| ATP6AP1ATPase H+ transporting accessory protein 1 | Always | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Always | In 2 conditions |
| BNIP1BCL2 interacting protein 1 | Always | In 1 condition |
| C1GALT1C1C1GALT1 specific chaperone 1 | Always | In 1 condition |
| CDH1cadherin 1 | Always | In 1 condition |
| CPAPcentrosome assembly and centriole elongation protein | Always | In 1 condition |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Always | In 1 condition |
| DONSONDNA replication fork stabilization factor DONSON | Always | In 1 condition |
| DVL1dishevelled segment polarity protein 1 | Always | In 1 condition |
| EXOSC1exosome component 1 | Always | In 1 condition |
| GH1growth hormone 1 | Always | In 1 condition |
| GON4Lgon-4 like | Always | In 1 condition |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Always | In 1 condition |
| IFT122intraflagellar transport 122 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 2 conditions |
| IFT52intraflagellar transport 52 | Always | In 1 condition |
| IGBP1immunoglobulin binding protein 1 | Always | In 2 conditions |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Always | In 1 condition |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Always | In 1 condition |
| NFIXnuclear factor I X | Always | In 3 conditions |
| NRASNRAS proto-oncogene, GTPase | Always | In 2 conditions |
| NSD1nuclear receptor binding SET domain protein 1 | Always | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Always | In 3 conditions |
| NXNnucleoredoxin | Always | In 1 condition |
| ODC1ornithine decarboxylase 1 | Always | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Always | In 3 conditions |
| PEX14peroxisomal biogenesis factor 14 | Always | In 3 conditions |
| PEX26peroxisomal biogenesis factor 26 | Always | In 3 conditions |
| PEX3peroxisomal biogenesis factor 3 | Always | In 4 conditions |
| POC1APOC1 centriolar protein A | Always | In 1 condition |
| PPFIA3PPFI scaffold protein A3 | Always | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Always | In 1 condition |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Always | In 1 condition |
| RIN2Ras and Rab interactor 2 | Always | In 1 condition |
Show 306 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| RNF113Aring finger protein 113A | Always | In 1 condition |
| RPL17ribosomal protein L17 | Always | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Always | In 1 condition |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Always | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Always | In 1 condition |
| THOC6THO complex subunit 6 | Always | In 2 conditions |
| TRA2Btransformer 2 beta homolog | Always | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Always | In 3 conditions |
| UBA2ubiquitin like modifier activating enzyme 2 | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| UNC13Aunc-13 homolog A | Always | In 2 conditions |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Always | In 1 condition |
| WWOXWW domain containing oxidoreductase | Always | In 1 condition |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Always | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Very often (80–99%) | In 1 condition |
| ANTXR1ANTXR cell adhesion molecule 1 | Very often (80–99%) | In 1 condition |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Very often (80–99%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Very often (80–99%) | In 1 condition |
| BCORL1BCL6 corepressor like 1 | Very often (80–99%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 2 conditions |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Very often (80–99%) | In 1 condition |
| CBLCbl proto-oncogene | Very often (80–99%) | In 1 condition |
| CDH11cadherin 11 | Very often (80–99%) | In 1 condition |
| CILK1ciliogenesis associated kinase 1 | Very often (80–99%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Very often (80–99%) | In 1 condition |
| CPLX1complexin 1 | Very often (80–99%) | In 2 conditions |
| CTBP1C-terminal binding protein 1 | Very often (80–99%) | In 2 conditions |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Very often (80–99%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Very often (80–99%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Very often (80–99%) | In 1 condition |
| ELNelastin | Very often (80–99%) | In 1 condition |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Very often (80–99%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Very often (80–99%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Very often (80–99%) | In 9 conditions |
| FGFR3fibroblast growth factor receptor 3 | Very often (80–99%) | In 2 conditions |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Very often (80–99%) | In 1 condition |
| GHRgrowth hormone receptor | Very often (80–99%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Very often (80–99%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Very often (80–99%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Very often (80–99%) | In 1 condition |
| GTPBP2GTP binding protein 2 | Very often (80–99%) | In 1 condition |
| HIC1HIC ZBTB transcriptional repressor 1 | Very often (80–99%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 2 conditions |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Very often (80–99%) | In 2 conditions |
| LIMK1LIM domain kinase 1 | Very often (80–99%) | In 1 condition |
| LRP5LDL receptor related protein 5 | Very often (80–99%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Very often (80–99%) | In 1 condition |
| MED12mediator complex subunit 12 | Very often (80–99%) | In 2 conditions |
| MEF2Cmyocyte enhancer factor 2C | Very often (80–99%) | In 1 condition |
| METTL27methyltransferase like 27 | Very often (80–99%) | In 1 condition |
| MRASmuscle RAS oncogene homolog | Very often (80–99%) | In 2 conditions |
| NCF1neutrophil cytosolic factor 1 | Very often (80–99%) | In 1 condition |
| NELFAnegative elongation factor complex member A | Very often (80–99%) | In 1 condition |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Very often (80–99%) | In 1 condition |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Very often (80–99%) | In 2 conditions |
| PEX1peroxisomal biogenesis factor 1 | Very often (80–99%) | In 3 conditions |
| PEX10peroxisomal biogenesis factor 10 | Very often (80–99%) | In 2 conditions |
| PEX11Bperoxisomal biogenesis factor 11 beta | Very often (80–99%) | In 2 conditions |
| PEX13peroxisomal biogenesis factor 13 | Very often (80–99%) | In 3 conditions |
| PEX16peroxisomal biogenesis factor 16 | Very often (80–99%) | In 2 conditions |
| PEX19peroxisomal biogenesis factor 19 | Very often (80–99%) | In 2 conditions |
| PEX2peroxisomal biogenesis factor 2 | Very often (80–99%) | In 3 conditions |
| PEX5peroxisomal biogenesis factor 5 | Very often (80–99%) | In 4 conditions |
| PEX6peroxisomal biogenesis factor 6 | Very often (80–99%) | In 2 conditions |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Very often (80–99%) | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Very often (80–99%) | In 2 conditions |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Very often (80–99%) | In 1 condition |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 1 condition |
| RASA2RAS p21 protein activator 2 | Very often (80–99%) | In 1 condition |
| RFC2replication factor C subunit 2 | Very often (80–99%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Very often (80–99%) | In 1 condition |
| RRASRAS related | Very often (80–99%) | In 1 condition |
| RRAS2RAS related 2 | Very often (80–99%) | In 1 condition |
| SIX2SIX homeobox 2 | Very often (80–99%) | In 1 condition |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Very often (80–99%) | In 1 condition |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Very often (80–99%) | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Very often (80–99%) | In 1 condition |
| STIM1stromal interaction molecule 1 | Very often (80–99%) | In 1 condition |
| STX1Asyntaxin 1A | Very often (80–99%) | In 1 condition |
| TBCEtubulin folding cofactor E | Very often (80–99%) | In 1 condition |
| TBL2transducin beta like 2 | Very often (80–99%) | In 1 condition |
| TMEM270transmembrane protein 270 | Very often (80–99%) | In 1 condition |
| TWIST1twist family bHLH transcription factor 1 | Very often (80–99%) | In 2 conditions |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Very often (80–99%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Very often (80–99%) | In 1 condition |
| WDR37WD repeat domain 37 | Very often (80–99%) | In 1 condition |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Very often (80–99%) | In 2 conditions |
| ZDHHC9zDHHC palmitoyltransferase 9 | Very often (80–99%) | In 1 condition |
| AKT3AKT serine/threonine kinase 3 | Often (30–79%) | In 1 condition |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Often (30–79%) | In 2 conditions |
| APCAPC regulator of Wnt signaling pathway | Often (30–79%) | In 1 condition |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Often (30–79%) | In 1 condition |
| CCND2cyclin D2 | Often (30–79%) | In 1 condition |
| EBF3EBF transcription factor 3 | Often (30–79%) | In 1 condition |
| FBN1fibrillin 1 | Often (30–79%) | In 1 condition |
| FBXO22F-box protein 22 | Often (30–79%) | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | Often (30–79%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Often (30–79%) | In 1 condition |
| FUT8fucosyltransferase 8 | Often (30–79%) | In 1 condition |
| GATA4GATA binding protein 4 | Often (30–79%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Often (30–79%) | In 1 condition |
| GLI3GLI family zinc finger 3 | Often (30–79%) | In 2 conditions |
| GTF3C3general transcription factor IIIC subunit 3 | Often (30–79%) | In 1 condition |
| GTPBP1GTP binding protein 1 | Often (30–79%) | In 1 condition |
| HBA1hemoglobin subunit alpha 1 | Often (30–79%) | In 1 condition |
| HBA2hemoglobin subunit alpha 2 | Often (30–79%) | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Often (30–79%) | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Often (30–79%) | In 1 condition |
| IL11RAinterleukin 11 receptor subunit alpha | Often (30–79%) | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Often (30–79%) | In 1 condition |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Often (30–79%) | In 1 condition |
| KDM6Alysine demethylase 6A | Often (30–79%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Often (30–79%) | In 2 conditions |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Often (30–79%) | In 1 condition |
| MADDMAP kinase activating death domain | Often (30–79%) | In 2 conditions |
| MAFMAF bZIP transcription factor | Often (30–79%) | In 2 conditions |
| MAN2C1mannosidase alpha class 2C member 1 | Often (30–79%) | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Often (30–79%) | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Often (30–79%) | In 2 conditions |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Often (30–79%) | In 2 conditions |
| MED25mediator complex subunit 25 | Often (30–79%) | In 1 condition |
| MYOD1myogenic differentiation 1 | Often (30–79%) | In 1 condition |
| NSRP1nuclear speckle splicing regulatory protein 1 | Often (30–79%) | In 1 condition |
| PDCD6IPprogrammed cell death 6 interacting protein | Often (30–79%) | In 1 condition |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Often (30–79%) | In 2 conditions |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Often (30–79%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Often (30–79%) | In 1 condition |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Often (30–79%) | In 1 condition |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Often (30–79%) | In 1 condition |
| POLR2ARNA polymerase II subunit A | Often (30–79%) | In 1 condition |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Often (30–79%) | In 1 condition |
| RBM8ARNA binding motif protein 8A | Often (30–79%) | In 1 condition |
| SATB2SATB homeobox 2 | Often (30–79%) | In 3 conditions |
| SCNM1sodium channel modifier 1 | Often (30–79%) | In 1 condition |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Often (30–79%) | In 1 condition |
| SH3PXD2BSH3 and PX domains 2B | Often (30–79%) | In 1 condition |
| SHPKsedoheptulokinase | Often (30–79%) | In 1 condition |
| SKISKI proto-oncogene | Often (30–79%) | In 1 condition |
| SMAD3SMAD family member 3 | Often (30–79%) | In 1 condition |
| TAOK1TAO kinase 1 | Often (30–79%) | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Often (30–79%) | In 2 conditions |
| TBX1T-box transcription factor 1 | Often (30–79%) | In 1 condition |
| TRIOtrio Rho guanine nucleotide exchange factor | Often (30–79%) | In 2 conditions |
| TSHZ3teashirt zinc finger homeobox 3 | Often (30–79%) | In 1 condition |
| VAC14VAC14 component of PIKFYVE complex | Often (30–79%) | In 1 condition |
| WLSWnt ligand secretion mediator | Often (30–79%) | In 1 condition |
| ZIC1Zic family zinc finger 1 | Often (30–79%) | In 2 conditions |
| AARS1alanyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| ACTL6Bactin like 6B | Sometimes (5–29%) | In 1 condition |
| ADAT3adenosine deaminase tRNA specific 3 | Sometimes (5–29%) | In 2 conditions |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| ATAD3AATPase family AAA domain containing 3A | Sometimes (5–29%) | In 2 conditions |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Sometimes (5–29%) | In 2 conditions |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Sometimes (5–29%) | In 2 conditions |
| ATP6V1AATPase H+ transporting V1 subunit A | Sometimes (5–29%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Sometimes (5–29%) | In 2 conditions |
| BCL11ABCL11 transcription factor A | Sometimes (5–29%) | In 1 condition |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Sometimes (5–29%) | In 2 conditions |
| BUB3BUB3 mitotic checkpoint protein | Sometimes (5–29%) | In 1 condition |
| CACHD1cache domain containing 1 | Sometimes (5–29%) | In 1 condition |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Sometimes (5–29%) | In 2 conditions |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Sometimes (5–29%) | In 1 condition |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Sometimes (5–29%) | In 1 condition |
| CARS1cysteinyl-tRNA synthetase 1 | Sometimes (5–29%) | In 1 condition |
| CDC42BPBCDC42 binding protein kinase beta | Sometimes (5–29%) | In 1 condition |
| CDK19cyclin dependent kinase 19 | Sometimes (5–29%) | In 1 condition |
| CDKL5cyclin dependent kinase like 5 | Sometimes (5–29%) | In 1 condition |
| CELF2CUGBP Elav-like family member 2 | Sometimes (5–29%) | In 1 condition |
| CEP57centrosomal protein 57 | Sometimes (5–29%) | In 1 condition |
| CLTCclathrin heavy chain | Sometimes (5–29%) | In 1 condition |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Sometimes (5–29%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Sometimes (5–29%) | In 1 condition |
| CTCFCCCTC-binding factor | Sometimes (5–29%) | In 2 conditions |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Sometimes (5–29%) | In 1 condition |
| DALRD3DALR anticodon binding domain containing 3 | Sometimes (5–29%) | In 1 condition |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Sometimes (5–29%) | In 1 condition |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Sometimes (5–29%) | In 1 condition |
| DHX30DExH-box helicase 30 | Sometimes (5–29%) | In 1 condition |
| DNM1dynamin 1 | Sometimes (5–29%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| DPH5diphthamide biosynthesis 5 | Sometimes (5–29%) | In 1 condition |
| DVL3dishevelled segment polarity protein 3 | Sometimes (5–29%) | In 1 condition |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Sometimes (5–29%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| FBXO28F-box protein 28 | Sometimes (5–29%) | In 1 condition |
| FGF12fibroblast growth factor 12 | Sometimes (5–29%) | In 1 condition |
| FOCADfocadhesin | Sometimes (5–29%) | In 1 condition |
| FOXG1forkhead box G1 | Sometimes (5–29%) | In 1 condition |
| FRA10AC1FRA10A associated CGG repeat 1 | Sometimes (5–29%) | In 1 condition |
| FRMPD4FERM and PDZ domain containing 4 | Sometimes (5–29%) | In 1 condition |
| FZR1fizzy and cell division cycle 20 related 1 | Sometimes (5–29%) | In 1 condition |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Sometimes (5–29%) | In 1 condition |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Sometimes (5–29%) | In 1 condition |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Sometimes (5–29%) | In 1 condition |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Sometimes (5–29%) | In 1 condition |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Sometimes (5–29%) | In 1 condition |
| GNB2G protein subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sometimes (5–29%) | In 1 condition |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Sometimes (5–29%) | In 1 condition |
| H3-3AH3.3 histone A | Sometimes (5–29%) | In 1 condition |
| H3-3BH3.3 histone B | Sometimes (5–29%) | In 1 condition |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Sometimes (5–29%) | In 1 condition |
| HIVEP2HIVEP zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Sometimes (5–29%) | In 1 condition |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Sometimes (5–29%) | In 1 condition |
| KCNB1potassium voltage-gated channel subfamily B member 1 | 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 |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Sometimes (5–29%) | In 1 condition |
| KDM2Blysine demethylase 2B | Sometimes (5–29%) | In 1 condition |
| KMT2Alysine methyltransferase 2A | Sometimes (5–29%) | In 1 condition |
| KMT5Blysine methyltransferase 5B | Sometimes (5–29%) | In 1 condition |
| LMX1BLIM homeobox transcription factor 1 beta | Sometimes (5–29%) | In 1 condition |
| MAPK1mitogen-activated protein kinase 1 | Sometimes (5–29%) | In 1 condition |
| MARK2microtubule affinity regulating kinase 2 | Sometimes (5–29%) | In 1 condition |
| MED12Lmediator complex subunit 12L | Sometimes (5–29%) | In 1 condition |
| MT-TL2mitochondrially encoded tRNA-Leu (CUN) 2 | Sometimes (5–29%) | In 1 condition |
| MTX2metaxin 2 | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 1 condition |
| NECAP1NECAP endocytosis associated 1 | Sometimes (5–29%) | In 1 condition |
| NPHP3nephrocystin 3 | Sometimes (5–29%) | In 1 condition |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Sometimes (5–29%) | In 1 condition |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Sometimes (5–29%) | In 1 condition |
| PACS2phosphofurin acidic cluster sorting protein 2 | Sometimes (5–29%) | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Sometimes (5–29%) | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Sometimes (5–29%) | In 1 condition |
| PURApurine rich element binding protein A | Sometimes (5–29%) | In 1 condition |
| RELREL proto-oncogene, NF-kB subunit | Sometimes (5–29%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| SATB1SATB homeobox 1 | Sometimes (5–29%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sometimes (5–29%) | In 2 conditions |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sometimes (5–29%) | In 1 condition |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Sometimes (5–29%) | In 1 condition |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Sometimes (5–29%) | In 1 condition |
| SETD5SET domain containing 5 | Sometimes (5–29%) | In 1 condition |
| SGSM3small G protein signaling modulator 3 | Sometimes (5–29%) | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Sometimes (5–29%) | In 1 condition |
| SLC13A5solute carrier family 13 member 5 | Sometimes (5–29%) | In 1 condition |
| SLC1A2solute carrier family 1 member 2 | Sometimes (5–29%) | In 1 condition |
| SLC1A3solute carrier family 1 member 3 | Sometimes (5–29%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Sometimes (5–29%) | In 1 condition |
| SLC38A3solute carrier family 38 member 3 | Sometimes (5–29%) | In 1 condition |
| SOX6SRY-box transcription factor 6 | Sometimes (5–29%) | In 1 condition |
| STRADASTE20 related adaptor alpha | Sometimes (5–29%) | In 1 condition |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Sometimes (5–29%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sometimes (5–29%) | In 1 condition |
| SYNJ1synaptojanin 1 | Sometimes (5–29%) | In 1 condition |
| SZT2SZT2 subunit of KICSTOR complex | Sometimes (5–29%) | In 2 conditions |
| THOC2THO complex subunit 2 | Sometimes (5–29%) | In 1 condition |
| TRAK1trafficking kinesin protein 1 | Sometimes (5–29%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Sometimes (5–29%) | In 1 condition |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Sometimes (5–29%) | In 1 condition |
| UBA5ubiquitin like modifier activating enzyme 5 | Sometimes (5–29%) | In 1 condition |
| UBE2Aubiquitin conjugating enzyme E2 A | Sometimes (5–29%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Sometimes (5–29%) | In 1 condition |
| XPO1exportin 1 | Sometimes (5–29%) | In 1 condition |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Sometimes (5–29%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Sometimes (5–29%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Rarely (1–4%) | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Rarely (1–4%) | In 2 conditions |
| NEU1neuraminidase 1 | Rarely (1–4%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| AGO1argonaute RISC component 1 | Not recorded | In 1 condition |
| ARXaristaless related homeobox | Not recorded | In 1 condition |
| ATN1atrophin 1 | Not recorded | In 1 condition |
| BMP4bone morphogenetic protein 4 | Not recorded | In 1 condition |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Not recorded | In 1 condition |
| CCN2cellular communication network factor 2 | Not recorded | In 1 condition |
| CPT2carnitine palmitoyltransferase 2 | Not recorded | In 1 condition |
| CTNND1catenin delta 1 | Not recorded | In 1 condition |
| CUL4Bcullin 4B | 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 |
| FBXO11F-box protein 11 | Not recorded | In 1 condition |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Not recorded | In 1 condition |
| GMNNgeminin DNA replication inhibitor | Not recorded | In 1 condition |
| GNPATglyceronephosphate O-acyltransferase | Not recorded | In 1 condition |
| LBRlamin B receptor | Not recorded | In 1 condition |
| MDH1malate dehydrogenase 1 | Not recorded | In 1 condition |
| MTM1myotubularin 1 | Not recorded | In 1 condition |
| NFIBnuclear factor I B | Not recorded | In 1 condition |
| PRDX1peroxiredoxin 1 | Not recorded | In 1 condition |
| SERPINH1serpin family H member 1 | Not recorded | In 1 condition |
| SETBP1SET binding protein 1 | Not recorded | In 1 condition |
| SETD2SET domain containing 2, histone lysine methyltransferase | Not recorded | In 1 condition |
| SOX9SRY-box transcription factor 9 | Not recorded | In 1 condition |
| SYT1synaptotagmin 1 | Not recorded | In 1 condition |
| TCF20transcription factor 20 | Not recorded | In 1 condition |
| TET3tet methylcytosine dioxygenase 3 | Not recorded | In 1 condition |
| TMEM237transmembrane protein 237 | Not recorded | In 1 condition |
| TP63tumor protein p63 | Not recorded | In 1 condition |
| UNC80unc-80 subunit of NALCN channel complex | Not recorded | In 1 condition |
| WASHC5WASH complex subunit 5 | Not recorded | In 1 condition |
| WDR35WD repeat domain 35 | Not recorded | In 1 condition |
| WNK3WNK lysine deficient protein kinase 3 | Not recorded | In 1 condition |
| XRCC4X-ray repair cross complementing 4 | Not recorded | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | 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.
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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