Trait
Short fingers or toes
Clinical name: Brachydactyly
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Summary
- Also called
- Brachydactyly syndrome
Reference genomeGRCh38hg38
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Get my Genome Test381 genes linked to Short fingers or toes
Changes in these genes cause rare conditions in which Short fingers or toes 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 |
|---|---|---|
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Always | In 2 conditions |
| AFF4ALF transcription elongation factor 4 | Always | In 2 conditions |
| AHDC1AT-hook DNA binding motif containing 1 | Always | In 1 condition |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Always | In 1 condition |
| APC2APC regulator of Wnt signaling pathway 2 | Always | In 1 condition |
| BBIP1BBSome interacting protein 1 | Always | In 2 conditions |
| BBS5Bardet-Biedl syndrome 5 | Always | In 2 conditions |
| BBS9Bardet-Biedl syndrome 9 | Always | In 2 conditions |
| BGNbiglycan | Always | In 2 conditions |
| BMPR1Bbone morphogenetic protein receptor type 1B | Always | In 3 conditions |
| CEP55centrosomal protein 55 | Always | In 1 condition |
| CHST11carbohydrate sulfotransferase 11 | Always | In 1 condition |
| CILK1ciliogenesis associated kinase 1 | Always | In 2 conditions |
| COL2A1collagen type II alpha 1 chain | Always | In 4 conditions |
| COMPcartilage oligomeric matrix protein | Always | In 3 conditions |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Always | In 1 condition |
| DCPSdecapping enzyme, scavenger | Always | In 1 condition |
| DONSONDNA replication fork stabilization factor DONSON | Always | In 2 conditions |
| DVL1dishevelled segment polarity protein 1 | Always | In 3 conditions |
| DVL3dishevelled segment polarity protein 3 | Always | In 2 conditions |
| DYMdymeclin | Always | In 1 condition |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Always | In 1 condition |
| ERFETS2 repressor factor | Always | In 1 condition |
| ERI1exoribonuclease 1 | Always | In 2 conditions |
| EXOSC2exosome component 2 | Always | In 1 condition |
| FBXO28F-box protein 28 | Always | In 1 condition |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Always | In 1 condition |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Always | In 1 condition |
| GDF5growth differentiation factor 5 | Always | In 9 conditions |
| GLI3GLI family zinc finger 3 | Always | In 2 conditions |
| GNASGNAS complex locus | Always | In 8 conditions |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Always | In 1 condition |
| IFT122intraflagellar transport 122 | Always | In 2 conditions |
| IFT140intraflagellar transport 140 | Always | In 2 conditions |
| IFT43intraflagellar transport 43 | Always | In 3 conditions |
| IFT52intraflagellar transport 52 | Always | In 2 conditions |
| IHHIndian hedgehog signaling molecule | Always | In 2 conditions |
| KDM6Alysine demethylase 6A | Always | In 3 conditions |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| KIAA0753KIAA0753 | Always | In 3 conditions |
Show 341 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| KMT2Dlysine methyltransferase 2D | Always | In 2 conditions |
| LBRlamin B receptor | Always | In 3 conditions |
| LTBP3latent transforming growth factor beta binding protein 3 | Always | In 3 conditions |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Always | In 2 conditions |
| MARS1methionyl-tRNA synthetase 1 | Always | In 1 condition |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Always | In 1 condition |
| MEGF8multiple EGF like domains 8 | Always | In 2 conditions |
| MIR140microRNA 140 | Always | In 1 condition |
| MRPS16mitochondrial ribosomal protein S16 | Always | In 1 condition |
| NBASNBAS subunit of NRZ tethering complex | Always | In 1 condition |
| NXNnucleoredoxin | Always | In 2 conditions |
| OFD1OFD1 centriole and centriolar satellite protein | Always | In 4 conditions |
| PDE4Dphosphodiesterase 4D | Always | In 3 conditions |
| PLCB3phospholipase C beta 3 | Always | In 1 condition |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Always | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Always | In 2 conditions |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Always | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Always | In 1 condition |
| RAB23RAB23, member RAS oncogene family | Always | In 2 conditions |
| RMP64ribonuclease MRP subunit p64 | Always | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| ROR2ROR family WNT receptor 2 | Always | In 2 conditions |
| SIK3SIK family kinase 3 | Always | In 1 condition |
| SLC35C1solute carrier family 35 member C1 | Always | In 1 condition |
| SMAD4SMAD family member 4 | Always | In 2 conditions |
| TBC1D32TBC1 domain family member 32 | Always | In 1 condition |
| TBX15T-box transcription factor 15 | Always | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Always | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Always | In 3 conditions |
| TTC21Btetratricopeptide repeat domain 21B | Always | In 2 conditions |
| UBAP2Lubiquitin associated protein 2 like | Always | In 1 condition |
| WDR19WD repeat domain 19 | Always | In 3 conditions |
| WDR35WD repeat domain 35 | Always | In 3 conditions |
| WNT5AWnt family member 5A | Always | In 2 conditions |
| ACANaggrecan | Very often (80–99%) | In 4 conditions |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Very often (80–99%) | In 1 condition |
| ANTXR2ANTXR cell adhesion molecule 2 | Very often (80–99%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Very often (80–99%) | In 2 conditions |
| CASZ1castor zinc finger 1 | Very often (80–99%) | In 1 condition |
| CHST3carbohydrate sulfotransferase 3 | Very often (80–99%) | In 2 conditions |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Very often (80–99%) | In 1 condition |
| COL11A1collagen type XI alpha 1 chain | Very often (80–99%) | In 2 conditions |
| COL11A2collagen type XI alpha 2 chain | Very often (80–99%) | In 2 conditions |
| CTSKcathepsin K | Very often (80–99%) | In 2 conditions |
| CWC27CWC27 spliceosome associated cyclophilin | Very often (80–99%) | In 2 conditions |
| FBN1fibrillin 1 | Very often (80–99%) | In 4 conditions |
| FGF9fibroblast growth factor 9 | Very often (80–99%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Very often (80–99%) | In 4 conditions |
| FGFR3fibroblast growth factor receptor 3 | Very often (80–99%) | In 11 conditions |
| FLNAfilamin A | Very often (80–99%) | In 2 conditions |
| FLNBfilamin B | Very often (80–99%) | In 4 conditions |
| FLT4fms related receptor tyrosine kinase 4 | Very often (80–99%) | In 1 condition |
| FZD2frizzled class receptor 2 | Very often (80–99%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Very often (80–99%) | In 1 condition |
| GATA4GATA binding protein 4 | Very often (80–99%) | In 1 condition |
| GATA5GATA binding protein 5 | Very often (80–99%) | In 1 condition |
| GATA6GATA binding protein 6 | Very often (80–99%) | In 1 condition |
| GDF1growth differentiation factor 1 | Very often (80–99%) | In 1 condition |
| GDF6growth differentiation factor 6 | Very often (80–99%) | In 2 conditions |
| GJA5gap junction protein alpha 5 | Very often (80–99%) | In 2 conditions |
| HSPG2heparan sulfate proteoglycan 2 | Very often (80–99%) | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Very often (80–99%) | In 1 condition |
| JAG1jagged canonical Notch ligand 1 | Very often (80–99%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Very often (80–99%) | In 1 condition |
| KDRkinase insert domain receptor | Very often (80–99%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Very often (80–99%) | In 1 condition |
| LTBP1latent transforming growth factor beta binding protein 1 | Very often (80–99%) | In 1 condition |
| LTBP2latent transforming growth factor beta binding protein 2 | Very often (80–99%) | In 2 conditions |
| LUZP1leucine zipper protein 1 | Very often (80–99%) | In 1 condition |
| MACROH2A1macroH2A.1 histone | Very often (80–99%) | In 1 condition |
| MAFMAF bZIP transcription factor | Very often (80–99%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Very often (80–99%) | In 1 condition |
| MYMKmyomaker, myoblast fusion factor | Very often (80–99%) | In 1 condition |
| MYMXmyomixer, myoblast fusion factor | Very often (80–99%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Very often (80–99%) | In 1 condition |
| NKX2-6NK2 homeobox 6 | Very often (80–99%) | In 1 condition |
| NLRP3NLR family pyrin domain containing 3 | Very often (80–99%) | In 1 condition |
| NOGnoggin | Very often (80–99%) | In 4 conditions |
| NOTCH2notch receptor 2 | Very often (80–99%) | In 1 condition |
| PCNTpericentrin | Very often (80–99%) | In 2 conditions |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Very often (80–99%) | In 2 conditions |
| PDE3Aphosphodiesterase 3A | Very often (80–99%) | In 1 condition |
| PDPNpodoplanin | Very often (80–99%) | In 1 condition |
| PITX1paired like homeodomain 1 | Very often (80–99%) | In 1 condition |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Very often (80–99%) | In 1 condition |
| PRDM16PR/SET domain 16 | Very often (80–99%) | In 1 condition |
| PRKCZprotein kinase C zeta | Very often (80–99%) | In 1 condition |
| PRMT7protein arginine methyltransferase 7 | Very often (80–99%) | In 2 conditions |
| PTDSS1phosphatidylserine synthase 1 | Very often (80–99%) | In 1 condition |
| RAI1retinoic acid induced 1 | Very often (80–99%) | In 2 conditions |
| REREarginine-glutamic acid dipeptide repeats | Very often (80–99%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 6 conditions |
| RSPRY1ring finger and SPRY domain containing 1 | Very often (80–99%) | In 1 condition |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Very often (80–99%) | In 1 condition |
| SH3PXD2BSH3 and PX domains 2B | Very often (80–99%) | In 1 condition |
| SHOXSHOX homeobox | Very often (80–99%) | In 1 condition |
| SKISKI proto-oncogene | Very often (80–99%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Very often (80–99%) | In 2 conditions |
| SNX14sorting nexin 14 | Very often (80–99%) | In 2 conditions |
| SPENspen family transcriptional repressor | Very often (80–99%) | In 2 conditions |
| TBX1T-box transcription factor 1 | Very often (80–99%) | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Very often (80–99%) | In 3 conditions |
| UBE4Bubiquitination factor E4B | Very often (80–99%) | In 1 condition |
| ZFPM2zinc finger protein, FOG family member 2 | Very often (80–99%) | In 1 condition |
| ADAMTSL2ADAMTS like 2 | Often (30–79%) | In 1 condition |
| AHSGalpha 2-HS glycoprotein | Often (30–79%) | In 1 condition |
| ALX1ALX homeobox 1 | Often (30–79%) | In 1 condition |
| ALX3ALX homeobox 3 | Often (30–79%) | In 2 conditions |
| ARHGAP31Rho GTPase activating protein 31 | Often (30–79%) | In 2 conditions |
| ARL6ARF like GTPase 6 | Often (30–79%) | In 3 conditions |
| ATP7AATPase copper transporting alpha | Often (30–79%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Often (30–79%) | In 2 conditions |
| BBS10Bardet-Biedl syndrome 10 | Often (30–79%) | In 1 condition |
| BBS12Bardet-Biedl syndrome 12 | Often (30–79%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Often (30–79%) | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Often (30–79%) | In 2 conditions |
| BBS7Bardet-Biedl syndrome 7 | Often (30–79%) | In 1 condition |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Often (30–79%) | In 1 condition |
| CCDC32coiled-coil domain containing 32 | Often (30–79%) | In 1 condition |
| CEP120centrosomal protein 120 | Often (30–79%) | In 1 condition |
| CEP19centrosomal protein 19 | Often (30–79%) | In 1 condition |
| CEP290centrosomal protein 290 | Often (30–79%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Often (30–79%) | In 1 condition |
| CHSY1chondroitin sulfate synthase 1 | Often (30–79%) | In 2 conditions |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Often (30–79%) | In 2 conditions |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Often (30–79%) | In 1 condition |
| DBHdopamine beta-hydroxylase | Often (30–79%) | In 1 condition |
| DLL4delta like canonical Notch ligand 4 | Often (30–79%) | In 2 conditions |
| DOCK6dedicator of cytokinesis 6 | Often (30–79%) | In 1 condition |
| DPF2double PHD fingers 2 | Often (30–79%) | In 1 condition |
| DPH2diphthamide biosynthesis 2 | Often (30–79%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Often (30–79%) | In 2 conditions |
| DYNC2I1dynein 2 intermediate chain 1 | Often (30–79%) | In 2 conditions |
| DYNC2I2dynein 2 intermediate chain 2 | Often (30–79%) | In 2 conditions |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Often (30–79%) | In 2 conditions |
| DYNLT2Bdynein light chain Tctex-type 2B | Often (30–79%) | In 1 condition |
| EFNB1ephrin B1 | Often (30–79%) | In 2 conditions |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Often (30–79%) | In 1 condition |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Often (30–79%) | In 2 conditions |
| EXTL3exostosin like glycosyltransferase 3 | Often (30–79%) | In 2 conditions |
| FAM149B1family with sequence similarity 149 member B1 | Often (30–79%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 2 conditions |
| GHRgrowth hormone receptor | Often (30–79%) | In 1 condition |
| GPC4glypican 4 | Often (30–79%) | In 1 condition |
| GRB10growth factor receptor bound protein 10 | Often (30–79%) | In 1 condition |
| HDAC4histone deacetylase 4 | Often (30–79%) | In 1 condition |
| HEATR3HEAT repeat containing 3 | Often (30–79%) | In 1 condition |
| HHAThedgehog acyltransferase | Often (30–79%) | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Often (30–79%) | In 1 condition |
| IFT172intraflagellar transport 172 | Often (30–79%) | In 3 conditions |
| IFT27intraflagellar transport 27 | Often (30–79%) | In 1 condition |
| IFT74intraflagellar transport 74 | Often (30–79%) | In 1 condition |
| IFT80intraflagellar transport 80 | Often (30–79%) | In 2 conditions |
| ITGB6integrin subunit beta 6 | Often (30–79%) | In 1 condition |
| KCNK4potassium two pore domain channel subfamily K member 4 | Often (30–79%) | In 1 condition |
| KDM1Alysine demethylase 1A | Often (30–79%) | In 1 condition |
| KIF15kinesin family member 15 | Often (30–79%) | In 1 condition |
| KIF7kinesin family member 7 | Often (30–79%) | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 3 conditions |
| LIFRLIF receptor subunit alpha | Often (30–79%) | In 1 condition |
| LMNAlamin A/C | Often (30–79%) | In 2 conditions |
| LSSlanosterol synthase | Often (30–79%) | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Often (30–79%) | In 2 conditions |
| MIR17HGmiR-17-92a-1 cluster host gene | Often (30–79%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Often (30–79%) | In 2 conditions |
| MKS1MKS transition zone complex subunit 1 | Often (30–79%) | In 1 condition |
| NEK1NIMA related kinase 1 | Often (30–79%) | In 2 conditions |
| NOTCH1notch receptor 1 | Often (30–79%) | In 2 conditions |
| NPHP1nephrocystin 1 | Often (30–79%) | In 1 condition |
| NPR2natriuretic peptide receptor 2 | Often (30–79%) | In 1 condition |
| PDE6Dphosphodiesterase 6D | Often (30–79%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Often (30–79%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Often (30–79%) | In 1 condition |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Often (30–79%) | In 1 condition |
| PLXND1plexin D1 | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 1 condition |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Often (30–79%) | In 1 condition |
| PTCH1patched 1 | Often (30–79%) | In 2 conditions |
| PTCH2patched 2 | Often (30–79%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Often (30–79%) | In 2 conditions |
| RAP1BRAP1B, member of RAS oncogene family | Often (30–79%) | In 1 condition |
| RB1RB transcriptional corepressor 1 | Often (30–79%) | In 1 condition |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Often (30–79%) | In 1 condition |
| RDH11retinol dehydrogenase 11 | Often (30–79%) | In 1 condition |
| REV3LREV3 like, DNA directed polymerase zeta catalytic subunit | Often (30–79%) | In 1 condition |
| RUNX2RUNX family transcription factor 2 | Often (30–79%) | In 2 conditions |
| SCAPERS-phase cyclin A associated protein in the ER | Often (30–79%) | In 1 condition |
| SCLT1sodium channel and clathrin linker 1 | Often (30–79%) | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Often (30–79%) | In 1 condition |
| SIL1SIL1 nucleotide exchange factor | Often (30–79%) | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Often (30–79%) | In 2 conditions |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 4 conditions |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Often (30–79%) | In 1 condition |
| SMG9SMG9 nonsense mediated mRNA decay factor | Often (30–79%) | In 1 condition |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Often (30–79%) | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Often (30–79%) | In 2 conditions |
| SUFUSUFU negative regulator of hedgehog signaling | Often (30–79%) | In 1 condition |
| TCTN3tectonic family member 3 | Often (30–79%) | In 2 conditions |
| TELO2telomere maintenance 2 | Often (30–79%) | In 2 conditions |
| TLK2tousled like kinase 2 | Often (30–79%) | In 1 condition |
| TMEM216transmembrane protein 216 | Often (30–79%) | In 1 condition |
| TMEM231transmembrane protein 231 | Often (30–79%) | In 1 condition |
| TNXBtenascin XB | Often (30–79%) | In 1 condition |
| TONSLtonsoku like, DNA repair protein | Often (30–79%) | In 2 conditions |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Often (30–79%) | In 1 condition |
| TRA2Btransformer 2 beta homolog | Often (30–79%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Often (30–79%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Often (30–79%) | In 1 condition |
| TWIST1twist family bHLH transcription factor 1 | Often (30–79%) | In 3 conditions |
| WDPCPWD repeat containing planar cell polarity effector | Often (30–79%) | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| ATRXATRX chromatin remodeler | Sometimes (5–29%) | In 2 conditions |
| BAP1BRCA1 associated deubiquitinase 1 | Sometimes (5–29%) | In 1 condition |
| BHLHA9basic helix-loop-helix family member a9 | Sometimes (5–29%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sometimes (5–29%) | In 2 conditions |
| CBLCbl proto-oncogene | Sometimes (5–29%) | In 1 condition |
| CCDC22CCC complex scaffolding subunit CCDC22 | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Sometimes (5–29%) | In 1 condition |
| CHN1chimerin 1 | Sometimes (5–29%) | In 1 condition |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Sometimes (5–29%) | In 1 condition |
| CSNK2A1casein kinase 2 alpha 1 | Sometimes (5–29%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Sometimes (5–29%) | In 1 condition |
| CUL4Bcullin 4B | Sometimes (5–29%) | In 1 condition |
| DDX3XDEAD-box helicase 3 X-linked | Sometimes (5–29%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Sometimes (5–29%) | In 1 condition |
| DPYSL5dihydropyrimidinase like 5 | Sometimes (5–29%) | In 1 condition |
| EBF3EBF transcription factor 3 | Sometimes (5–29%) | In 1 condition |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Sometimes (5–29%) | In 1 condition |
| EXT1exostosin glycosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| FAM20CFAM20C golgi associated secretory pathway kinase | Sometimes (5–29%) | In 1 condition |
| FBXW11F-box and WD repeat domain containing 11 | Sometimes (5–29%) | In 1 condition |
| GJA1gap junction protein alpha 1 | Sometimes (5–29%) | In 2 conditions |
| GJB3gap junction protein beta 3 | Sometimes (5–29%) | In 1 condition |
| GJB4gap junction protein beta 4 | Sometimes (5–29%) | In 1 condition |
| GNAS-AS1GNAS antisense RNA 1 | Sometimes (5–29%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Sometimes (5–29%) | In 2 conditions |
| KDSR3-ketodihydrosphingosine reductase | Sometimes (5–29%) | In 1 condition |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| KIF26Akinesin family member 26A | Sometimes (5–29%) | In 1 condition |
| KLF13KLF transcription factor 13 | Sometimes (5–29%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Sometimes (5–29%) | In 1 condition |
| MAFBMAF bZIP transcription factor B | Sometimes (5–29%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| MED12mediator complex subunit 12 | Sometimes (5–29%) | In 1 condition |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Sometimes (5–29%) | In 1 condition |
| MRASmuscle RAS oncogene homolog | Sometimes (5–29%) | In 1 condition |
| MSX2msh homeobox 2 | Sometimes (5–29%) | In 1 condition |
| MYSM1Myb like, SWIRM and MPN domains 1 | Sometimes (5–29%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Sometimes (5–29%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Sometimes (5–29%) | In 1 condition |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Sometimes (5–29%) | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Sometimes (5–29%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Sometimes (5–29%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Sometimes (5–29%) | In 1 condition |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Sometimes (5–29%) | In 1 condition |
| PTENphosphatase and tensin homolog | Sometimes (5–29%) | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Sometimes (5–29%) | In 2 conditions |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| RASA2RAS p21 protein activator 2 | Sometimes (5–29%) | In 1 condition |
| RHOAras homolog family member A | Sometimes (5–29%) | In 1 condition |
| RIN2Ras and Rab interactor 2 | Sometimes (5–29%) | In 2 conditions |
| RIT1Ras like without CAAX 1 | Sometimes (5–29%) | In 1 condition |
| RNU5B-1RNA, U5B small nuclear 1 | Sometimes (5–29%) | In 1 condition |
| RRASRAS related | Sometimes (5–29%) | In 1 condition |
| RRAS2RAS related 2 | Sometimes (5–29%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| SEMA3Esemaphorin 3E | Sometimes (5–29%) | In 1 condition |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Sometimes (5–29%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Sometimes (5–29%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Sometimes (5–29%) | In 1 condition |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Sometimes (5–29%) | In 1 condition |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Sometimes (5–29%) | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Sometimes (5–29%) | In 1 condition |
| STX16syntaxin 16 | Sometimes (5–29%) | In 1 condition |
| TASP1taspase 1 | Sometimes (5–29%) | In 1 condition |
| TBX22T-box transcription factor 22 | Sometimes (5–29%) | In 1 condition |
| TCF12transcription factor 12 | Sometimes (5–29%) | In 2 conditions |
| TRIOtrio Rho guanine nucleotide exchange factor | Sometimes (5–29%) | In 1 condition |
| TWIST2twist family bHLH transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Sometimes (5–29%) | In 1 condition |
| VPS35LVPS35 endosomal protein sorting factor like | Sometimes (5–29%) | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Sometimes (5–29%) | In 1 condition |
| WASHC5WASH complex subunit 5 | Sometimes (5–29%) | In 1 condition |
| WDR11WD repeat domain 11 | Sometimes (5–29%) | In 1 condition |
| WNT4Wnt family member 4 | Sometimes (5–29%) | In 1 condition |
| ZDHHC9zDHHC palmitoyltransferase 9 | Sometimes (5–29%) | In 1 condition |
| ZIC1Zic family zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Sometimes (5–29%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Rarely (1–4%) | In 1 condition |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Rarely (1–4%) | In 1 condition |
| CDH11cadherin 11 | Rarely (1–4%) | In 1 condition |
| GJA8gap junction protein alpha 8 | Rarely (1–4%) | In 1 condition |
| PAHphenylalanine hydroxylase | Rarely (1–4%) | In 1 condition |
| PGM3phosphoglucomutase 3 | Rarely (1–4%) | In 1 condition |
| ARID1AAT-rich interaction domain 1A | Not recorded | In 1 condition |
| ARID2AT-rich interaction domain 2 | Not recorded | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Not recorded | In 1 condition |
| BMP4bone morphogenetic protein 4 | Not recorded | In 1 condition |
| C12orf57chromosome 12 open reading frame 57 | Not recorded | In 1 condition |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Not recorded | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Not recorded | In 1 condition |
| CCDC28Bcoiled-coil domain containing 28B | Not recorded | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Not recorded | In 1 condition |
| EVCEvC ciliary complex subunit 1 | Not recorded | In 1 condition |
| EVC2EvC ciliary complex subunit 2 | Not recorded | In 1 condition |
| FAM111AFAM111 trypsin like peptidase A | Not recorded | In 1 condition |
| GPX4glutathione peroxidase 4 | Not recorded | In 1 condition |
| HOXD13homeobox D13 | Not recorded | In 3 conditions |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| IFT57intraflagellar transport 57 | Not recorded | In 1 condition |
| IFT81intraflagellar transport 81 | Not recorded | In 1 condition |
| KAT6Blysine acetyltransferase 6B | Not recorded | In 1 condition |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Not recorded | In 1 condition |
| KDM5Clysine demethylase 5C | Not recorded | In 1 condition |
| MAGEL2MAGE family member L2 | Not recorded | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Not recorded | In 1 condition |
| PAPSS23'-phosphoadenosine 5'-phosphosulfate synthase 2 | Not recorded | In 1 condition |
| PAX3paired box 3 | Not recorded | In 1 condition |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Not recorded | In 1 condition |
| POC1APOC1 centriolar protein A | Not recorded | In 1 condition |
| POMPproteasome maturation protein | Not recorded | In 1 condition |
| POP1POP1 ribonuclease P/MRP subunit | Not recorded | In 1 condition |
| PORCNporcupine O-acyltransferase | Not recorded | In 1 condition |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Not recorded | In 1 condition |
| PTHLHparathyroid hormone like hormone | Not recorded | In 1 condition |
| RLIMring finger protein, LIM domain interacting | Not recorded | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Not recorded | In 1 condition |
| SLC35D1solute carrier family 35 member D1 | Not recorded | In 1 condition |
| SLURP1secreted LY6/PLAUR domain containing 1 | Not recorded | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Not recorded | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Not recorded | In 1 condition |
| SPARTspartin | Not recorded | In 1 condition |
| STAMBPSTAM binding protein | Not recorded | In 1 condition |
| TGFBR2transforming growth factor beta receptor 2 | Not recorded | In 1 condition |
| TMEM67transmembrane protein 67 | Not recorded | In 1 condition |
| TNNT3troponin T3, fast skeletal type | Not recorded | In 1 condition |
| WNT7AWnt family member 7A | Not recorded | In 1 condition |
| YY1AP1YY1 associated protein 1 | Not recorded | In 1 condition |
| ZMIZ1zinc finger MIZ-type containing 1 | 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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