Trait
Short nose
Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip.
Summary
- Also called
- Decreased length of nose, Shortened nose, Small nose, Hypoplastic nose, Nasal hypoplasia
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
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Get my Genome Test337 genes linked to Short nose
Changes in these genes cause rare conditions in which Short nose 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 |
|---|---|---|
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Always | In 1 condition |
| ANTXR1ANTXR cell adhesion molecule 1 | Always | In 1 condition |
| BMP2bone morphogenetic protein 2 | Always | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Always | In 2 conditions |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Always | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Always | In 1 condition |
| CEP57centrosomal protein 57 | Always | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Always | In 2 conditions |
| CILK1ciliogenesis associated kinase 1 | Always | In 1 condition |
| COL11A1collagen type XI alpha 1 chain | Always | In 3 conditions |
| COL11A2collagen type XI alpha 2 chain | Always | In 1 condition |
| DCPSdecapping enzyme, scavenger | Always | In 1 condition |
| DNMT3BDNA methyltransferase 3 beta | Always | In 1 condition |
| DVL1dishevelled segment polarity protein 1 | Always | In 3 conditions |
| DVL3dishevelled segment polarity protein 3 | Always | In 2 conditions |
| ECE1endothelin converting enzyme 1 | Always | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Always | In 2 conditions |
| FGFR1fibroblast growth factor receptor 1 | Always | In 5 conditions |
| GTF3C3general transcription factor IIIC subunit 3 | Always | In 1 condition |
| HOXB1homeobox B1 | Always | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Always | In 2 conditions |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KDM6Alysine demethylase 6A | Always | In 1 condition |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Always | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Always | In 4 conditions |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Always | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Always | In 2 conditions |
| MAP2K2mitogen-activated protein kinase kinase 2 | Always | In 2 conditions |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Always | In 1 condition |
| MIR140microRNA 140 | Always | In 1 condition |
| MN1MN1 proto-oncogene, transcriptional regulator | Always | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Always | In 1 condition |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Always | In 1 condition |
| MYH3myosin heavy chain 3 | Always | In 1 condition |
| NALCNsodium leak channel, non-selective | Always | In 1 condition |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Always | In 1 condition |
| PAK3p21 (RAC1) activated kinase 3 | Always | In 1 condition |
| PDE4Dphosphodiesterase 4D | Always | In 3 conditions |
Show 297 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PGAP3post-GPI attachment to proteins phospholipase 3 | Always | In 1 condition |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Always | In 1 condition |
| PLCB3phospholipase C beta 3 | Always | In 1 condition |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Always | In 1 condition |
| POLR1ARNA polymerase I subunit A | Always | In 2 conditions |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Always | In 1 condition |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Always | In 1 condition |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Always | In 2 conditions |
| RAC3Rac family small GTPase 3 | Always | In 1 condition |
| RBSNrabenosyn, RAB effector | Always | In 1 condition |
| RIPK4receptor interacting serine/threonine kinase 4 | Always | In 2 conditions |
| ROR2ROR family WNT receptor 2 | Always | In 2 conditions |
| RPS6KA3ribosomal protein S6 kinase A3 | Always | In 1 condition |
| RSPRY1ring finger and SPRY domain containing 1 | Always | In 2 conditions |
| SLC13A1solute carrier family 13 member 1 | Always | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Always | In 2 conditions |
| SONSON DNA and RNA binding protein | Always | In 2 conditions |
| TMCO1transmembrane and coiled-coil domains 1 | Always | In 2 conditions |
| TOP2BDNA topoisomerase II beta | Always | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Always | In 3 conditions |
| VPS53VPS53 subunit of GARP complex | Always | In 1 condition |
| WNT5AWnt family member 5A | Always | In 2 conditions |
| ZMPSTE24zinc metallopeptidase STE24 | Always | In 2 conditions |
| ZPR1ZPR1 zinc finger | Always | In 1 condition |
| ADSLadenylosuccinate lyase | Very often (80–99%) | In 2 conditions |
| AGAaspartylglucosaminidase | Very often (80–99%) | In 1 condition |
| ARSLarylsulfatase L | Very often (80–99%) | In 2 conditions |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Very often (80–99%) | In 2 conditions |
| ATP6V1AATPase H+ transporting V1 subunit A | Very often (80–99%) | In 1 condition |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Very often (80–99%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Very often (80–99%) | In 1 condition |
| BRD4bromodomain containing 4 | Very often (80–99%) | In 2 conditions |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Very often (80–99%) | In 1 condition |
| CD96CD96 molecule | Very often (80–99%) | In 2 conditions |
| CLIP2CAP-Gly domain containing linker protein 2 | Very often (80–99%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Very often (80–99%) | In 1 condition |
| DDX3XDEAD-box helicase 3 X-linked | Very often (80–99%) | In 1 condition |
| 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 |
| DSEdermatan sulfate epimerase | Very often (80–99%) | In 2 conditions |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Very often (80–99%) | In 2 conditions |
| EHMT1euchromatic histone lysine methyltransferase 1 | 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 2 conditions |
| FBN1fibrillin 1 | Very often (80–99%) | In 3 conditions |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Very often (80–99%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Very often (80–99%) | In 4 conditions |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Very often (80–99%) | In 1 condition |
| FLNAfilamin A | Very often (80–99%) | In 2 conditions |
| FZD2frizzled class receptor 2 | Very often (80–99%) | In 2 conditions |
| 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 |
| HDAC6histone deacetylase 6 | Very often (80–99%) | In 2 conditions |
| HDAC8histone deacetylase 8 | Very often (80–99%) | In 1 condition |
| HIC1HIC ZBTB transcriptional repressor 1 | Very often (80–99%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Very often (80–99%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Very often (80–99%) | In 1 condition |
| LRP2LDL receptor related protein 2 | Very often (80–99%) | In 2 conditions |
| LTBP3latent transforming growth factor beta binding protein 3 | Very often (80–99%) | In 2 conditions |
| MAFMAF bZIP transcription factor | Very often (80–99%) | In 2 conditions |
| MAU2MAU2 sister chromatid cohesion factor | Very often (80–99%) | In 1 condition |
| METTL27methyltransferase like 27 | 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 |
| NCF1neutrophil cytosolic factor 1 | Very often (80–99%) | In 1 condition |
| NEXMIFneurite extension and migration factor | Very often (80–99%) | In 2 conditions |
| NIPBLNIPBL cohesin loading factor | Very often (80–99%) | In 2 conditions |
| NXNnucleoredoxin | Very often (80–99%) | In 2 conditions |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Very often (80–99%) | In 2 conditions |
| PAX3paired box 3 | Very often (80–99%) | In 3 conditions |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Very often (80–99%) | In 1 condition |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Very often (80–99%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Very often (80–99%) | In 1 condition |
| RAB18RAB18, member RAS oncogene family | Very often (80–99%) | In 2 conditions |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Very often (80–99%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Very often (80–99%) | In 2 conditions |
| RFC2replication factor C subunit 2 | Very often (80–99%) | In 1 condition |
| SETBP1SET binding protein 1 | Very often (80–99%) | In 2 conditions |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Very often (80–99%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Very often (80–99%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Very often (80–99%) | In 1 condition |
| STX1Asyntaxin 1A | Very often (80–99%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Very often (80–99%) | In 1 condition |
| TBL2transducin beta like 2 | Very often (80–99%) | In 1 condition |
| TCTN3tectonic family member 3 | Very often (80–99%) | In 1 condition |
| TMEM270transmembrane protein 270 | Very often (80–99%) | In 1 condition |
| TMEM94transmembrane protein 94 | Very often (80–99%) | In 1 condition |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Very often (80–99%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Very often (80–99%) | In 1 condition |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Very often (80–99%) | In 2 conditions |
| ZNHIT3zinc finger HIT-type containing 3 | Very often (80–99%) | In 2 conditions |
| ADAMTSL2ADAMTS like 2 | Often (30–79%) | In 2 conditions |
| ADNPactivity dependent neuroprotector homeobox | Often (30–79%) | In 1 condition |
| AFF4ALF transcription elongation factor 4 | Often (30–79%) | In 2 conditions |
| ARID1AAT-rich interaction domain 1A | Often (30–79%) | In 1 condition |
| ARID1BAT-rich interaction domain 1B | Often (30–79%) | In 1 condition |
| ARID2AT-rich interaction domain 2 | Often (30–79%) | In 2 conditions |
| ASXL3ASXL transcriptional regulator 3 | Often (30–79%) | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Often (30–79%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Often (30–79%) | In 2 conditions |
| CAV1caveolin 1 | Often (30–79%) | In 1 condition |
| CCDC22CCC complex scaffolding subunit CCDC22 | Often (30–79%) | In 1 condition |
| CDH11cadherin 11 | Often (30–79%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Often (30–79%) | In 2 conditions |
| DDB1damage specific DNA binding protein 1 | Often (30–79%) | In 1 condition |
| DHCR2424-dehydrocholesterol reductase | Often (30–79%) | In 2 conditions |
| DPF2double PHD fingers 2 | Often (30–79%) | In 1 condition |
| DPYDdihydropyrimidine dehydrogenase | Often (30–79%) | In 1 condition |
| DPYSL5dihydropyrimidinase like 5 | Often (30–79%) | In 1 condition |
| FAM20CFAM20C golgi associated secretory pathway kinase | Often (30–79%) | In 2 conditions |
| FBXO22F-box protein 22 | Often (30–79%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Often (30–79%) | In 1 condition |
| FOXG1forkhead box G1 | Often (30–79%) | In 1 condition |
| FOXP1forkhead box P1 | Often (30–79%) | In 2 conditions |
| 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 2 conditions |
| GLI3GLI family zinc finger 3 | Often (30–79%) | In 2 conditions |
| GLULglutamate-ammonia ligase | Often (30–79%) | In 1 condition |
| GNAI1G protein subunit alpha i1 | Often (30–79%) | In 1 condition |
| GPC3glypican 3 | Often (30–79%) | In 2 conditions |
| GPC4glypican 4 | Often (30–79%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Often (30–79%) | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Often (30–79%) | In 1 condition |
| KICS2KICSTOR subunit 2 | Often (30–79%) | In 1 condition |
| KIF7kinesin family member 7 | Often (30–79%) | In 1 condition |
| MEF2Cmyocyte enhancer factor 2C | Often (30–79%) | In 2 conditions |
| MLXIPLMLX interacting protein like | Often (30–79%) | In 1 condition |
| NCAPG2non-SMC condensin II complex subunit G2 | Often (30–79%) | In 1 condition |
| NFIXnuclear factor I X | Often (30–79%) | In 3 conditions |
| PGAP2post-GPI attachment to proteins 2 | Often (30–79%) | In 1 condition |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Often (30–79%) | In 1 condition |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Often (30–79%) | In 1 condition |
| PLAAphospholipase A2 activating protein | Often (30–79%) | In 2 conditions |
| PRMT7protein arginine methyltransferase 7 | Often (30–79%) | In 1 condition |
| PTCH1patched 1 | Often (30–79%) | In 3 conditions |
| PUS1pseudouridine synthase 1 | Often (30–79%) | In 1 condition |
| RAI1retinoic acid induced 1 | Often (30–79%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Often (30–79%) | In 2 conditions |
| RNF13ring finger protein 13 | Often (30–79%) | In 2 conditions |
| SC5Dsterol-C5-desaturase | Often (30–79%) | In 2 conditions |
| SLC12A6solute carrier family 12 member 6 | Often (30–79%) | In 1 condition |
| SLC35D1solute carrier family 35 member D1 | Often (30–79%) | In 1 condition |
| SMAD2SMAD family member 2 | Often (30–79%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Often (30–79%) | In 1 condition |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Often (30–79%) | In 1 condition |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Often (30–79%) | In 1 condition |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Often (30–79%) | In 1 condition |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Often (30–79%) | In 1 condition |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Often (30–79%) | In 1 condition |
| SOX11SRY-box transcription factor 11 | Often (30–79%) | In 2 conditions |
| SOX4SRY-box transcription factor 4 | Often (30–79%) | In 2 conditions |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Often (30–79%) | In 2 conditions |
| SPOPspeckle type BTB/POZ protein | Often (30–79%) | In 1 condition |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Often (30–79%) | In 1 condition |
| VARS1valyl-tRNA synthetase 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 |
| YARS2tyrosyl-tRNA synthetase 2 | Often (30–79%) | In 1 condition |
| ZNF462zinc finger protein 462 | Often (30–79%) | In 2 conditions |
| ABCC8ATP binding cassette subfamily C member 8 | Sometimes (5–29%) | In 1 condition |
| ABCD1ATP binding cassette subfamily D member 1 | Sometimes (5–29%) | In 1 condition |
| ADAT3adenosine deaminase tRNA specific 3 | Sometimes (5–29%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 2 conditions |
| APCAPC regulator of Wnt signaling pathway | Sometimes (5–29%) | In 1 condition |
| ATAD3AATPase family AAA domain containing 3A | Sometimes (5–29%) | In 2 conditions |
| ATXN7L3ataxin 7 like 3 | Sometimes (5–29%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| BCAP31B cell receptor associated protein 31 | Sometimes (5–29%) | In 1 condition |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Sometimes (5–29%) | In 1 condition |
| CDONcell adhesion associated, oncogene regulated | Sometimes (5–29%) | In 1 condition |
| CHSY1chondroitin sulfate synthase 1 | Sometimes (5–29%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Sometimes (5–29%) | In 1 condition |
| COG8component of oligomeric golgi complex 8 | Sometimes (5–29%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Sometimes (5–29%) | In 1 condition |
| CRIPTOcripto, EGF-CFC family member | Sometimes (5–29%) | In 1 condition |
| CTCFCCCTC-binding factor | Sometimes (5–29%) | In 1 condition |
| DISP1dispatched RND transporter family member 1 | Sometimes (5–29%) | In 1 condition |
| DLL1delta like canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Sometimes (5–29%) | In 2 conditions |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | 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 |
| FGF8fibroblast growth factor 8 | Sometimes (5–29%) | In 1 condition |
| FOXH1forkhead box H1 | Sometimes (5–29%) | In 1 condition |
| FRYLFRY like transcription coactivator | Sometimes (5–29%) | In 1 condition |
| GAS1growth arrest specific 1 | Sometimes (5–29%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 2 conditions |
| GNB2G protein subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| GPC6glypican 6 | Sometimes (5–29%) | In 2 conditions |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Sometimes (5–29%) | In 2 conditions |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Sometimes (5–29%) | In 1 condition |
| INTS1integrator complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Sometimes (5–29%) | In 1 condition |
| KMT2Alysine methyltransferase 2A | Sometimes (5–29%) | In 1 condition |
| LMNB1lamin B1 | Sometimes (5–29%) | In 1 condition |
| LRP4LDL receptor related protein 4 | Sometimes (5–29%) | In 1 condition |
| MADDMAP kinase activating death domain | Sometimes (5–29%) | In 2 conditions |
| MED13Lmediator complex subunit 13L | Sometimes (5–29%) | In 1 condition |
| MPLKIPM-phase specific PLK1 interacting protein | Sometimes (5–29%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Sometimes (5–29%) | In 1 condition |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| NODALnodal growth differentiation factor | Sometimes (5–29%) | In 1 condition |
| NRCAMneuronal cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Sometimes (5–29%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sometimes (5–29%) | In 2 conditions |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Sometimes (5–29%) | In 1 condition |
| POLA1DNA polymerase alpha 1, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| PORcytochrome p450 oxidoreductase | Sometimes (5–29%) | In 1 condition |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Sometimes (5–29%) | In 1 condition |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Sometimes (5–29%) | In 1 condition |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Sometimes (5–29%) | In 1 condition |
| PTENphosphatase and tensin homolog | Sometimes (5–29%) | In 3 conditions |
| PURApurine rich element binding protein A | Sometimes (5–29%) | In 1 condition |
| RBMXRNA binding motif protein X-linked | Sometimes (5–29%) | In 1 condition |
| RFX7regulatory factor X7 | Sometimes (5–29%) | In 1 condition |
| SATB2SATB homeobox 2 | Sometimes (5–29%) | In 1 condition |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Sometimes (5–29%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Sometimes (5–29%) | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Sometimes (5–29%) | In 1 condition |
| SIX3SIX homeobox 3 | Sometimes (5–29%) | In 1 condition |
| SLC2A10solute carrier family 2 member 10 | Sometimes (5–29%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Sometimes (5–29%) | In 1 condition |
| SUFUSUFU negative regulator of hedgehog signaling | Sometimes (5–29%) | In 1 condition |
| SYT1synaptotagmin 1 | Sometimes (5–29%) | In 2 conditions |
| TCTN2tectonic family member 2 | Sometimes (5–29%) | In 1 condition |
| TGIF1TGFB induced factor homeobox 1 | Sometimes (5–29%) | In 1 condition |
| TONSLtonsoku like, DNA repair protein | Sometimes (5–29%) | In 2 conditions |
| TRIOtrio Rho guanine nucleotide exchange factor | Sometimes (5–29%) | In 2 conditions |
| TRIP12thyroid hormone receptor interactor 12 | Sometimes (5–29%) | In 1 condition |
| TRMT10AtRNA methyltransferase 10A | Sometimes (5–29%) | In 1 condition |
| TXNL4Athioredoxin like 4A | Sometimes (5–29%) | In 1 condition |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Sometimes (5–29%) | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Sometimes (5–29%) | In 1 condition |
| WNT7AWnt family member 7A | Sometimes (5–29%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| ZMYM2zinc finger MYM-type containing 2 | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| EBF3EBF transcription factor 3 | Rarely (1–4%) | In 1 condition |
| HEPACAMhepatic and glial cell adhesion molecule | Rarely (1–4%) | In 1 condition |
| MED16mediator complex subunit 16 | Rarely (1–4%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Not recorded | In 1 condition |
| ACTBactin beta | Not recorded | In 1 condition |
| AGO1argonaute RISC component 1 | Not recorded | In 1 condition |
| ATRXATRX chromatin remodeler | Not recorded | In 1 condition |
| AVParginine vasopressin | Not recorded | In 1 condition |
| BLTP1bridge-like lipid transfer protein family member 1 | Not recorded | In 1 condition |
| BMPERBMP binding endothelial regulator | Not recorded | In 1 condition |
| BPNT23'(2'), 5'-bisphosphate nucleotidase 2 | Not recorded | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Not recorded | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Not recorded | In 1 condition |
| CDCA7cell division cycle associated 7 | Not recorded | In 1 condition |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Not recorded | In 1 condition |
| COG7component of oligomeric golgi complex 7 | Not recorded | In 1 condition |
| DDR2discoidin domain receptor tyrosine kinase 2 | Not recorded | In 1 condition |
| EDAectodysplasin A | Not recorded | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Not recorded | In 1 condition |
| FLNBfilamin B | Not recorded | In 2 conditions |
| GBA1glucosylceramidase beta 1 | Not recorded | In 1 condition |
| GGCXgamma-glutamyl carboxylase | Not recorded | In 1 condition |
| GMNNgeminin DNA replication inhibitor | Not recorded | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| HSPA9heat shock protein family A (Hsp70) member 9 | Not recorded | In 1 condition |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Not recorded | In 1 condition |
| LIFRLIF receptor subunit alpha | Not recorded | In 1 condition |
| MBD5methyl-CpG binding domain protein 5 | Not recorded | In 1 condition |
| MOCS1molybdenum cofactor synthesis 1 | Not recorded | In 1 condition |
| MOCS2molybdenum cofactor synthesis 2 | Not recorded | In 1 condition |
| NFIAnuclear factor I A | Not recorded | In 1 condition |
| NPR2natriuretic peptide receptor 2 | Not recorded | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Not recorded | In 1 condition |
| PAM16presequence translocase associated motor 16 | Not recorded | In 1 condition |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| PEPDpeptidase D | Not recorded | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Not recorded | In 1 condition |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Not recorded | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Not recorded | In 1 condition |
| PLA2G6phospholipase A2 group VI | Not recorded | In 1 condition |
| POU1F1POU class 1 homeobox 1 | Not recorded | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Not recorded | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Not recorded | In 1 condition |
| RPS7ribosomal protein S7 | Not recorded | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Not recorded | In 1 condition |
| SMOsmoothened, frizzled class receptor | Not recorded | In 1 condition |
| SMOC1SPARC related modular calcium binding 1 | Not recorded | In 1 condition |
| STAMBPSTAM binding protein | Not recorded | In 1 condition |
| TAPT1transmembrane anterior posterior transformation 1 | Not recorded | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Not recorded | In 1 condition |
| TCF20transcription factor 20 | Not recorded | In 1 condition |
| TRRAPtransformation/transcription domain associated protein | Not recorded | In 1 condition |
| UBE3Bubiquitin protein ligase E3B | Not recorded | In 1 condition |
| ZBTB24zinc finger and BTB domain containing 24 | Not recorded | In 1 condition |
| ZSWIM6zinc finger SWIM-type containing 6 | 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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