Trait
Long philtrum
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Summary
- Also called
- Elongated philtrum, Increased height of philtrum, Increased length of philtrum, Increased vertical dimension of philtrum, Vertical hyperplasia of philtrum
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Long philtrum, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test460 genes linked to Long philtrum
Changes in these genes cause rare conditions in which Long philtrum 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 |
|---|---|---|
| ALPK3alpha kinase 3 | Always | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Always | In 3 conditions |
| ANTXR1ANTXR cell adhesion molecule 1 | Always | In 2 conditions |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Always | In 1 condition |
| ARID2AT-rich interaction domain 2 | Always | In 1 condition |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Always | In 4 conditions |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Always | In 2 conditions |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Always | In 1 condition |
| BCORBCL6 corepressor | Always | In 2 conditions |
| BMP2bone morphogenetic protein 2 | Always | In 2 conditions |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Always | In 2 conditions |
| CDC6cell division cycle 6 | Always | In 1 condition |
| CDK10cyclin dependent kinase 10 | Always | In 1 condition |
| CEP295centrosomal protein 295 | Always | In 1 condition |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Always | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Always | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Always | In 2 conditions |
| CHST3carbohydrate sulfotransferase 3 | Always | In 3 conditions |
| COL2A1collagen type II alpha 1 chain | Always | In 3 conditions |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Always | In 1 condition |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Always | In 1 condition |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Always | In 1 condition |
| EXOSC1exosome component 1 | Always | In 1 condition |
| EXOSC2exosome component 2 | Always | In 1 condition |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Always | In 2 conditions |
| FGFR1fibroblast growth factor receptor 1 | Always | In 2 conditions |
| GGCXgamma-glutamyl carboxylase | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 1 condition |
| IRX5iroquois homeobox 5 | Always | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KARS1lysyl-tRNA synthetase 1 | Always | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Always | In 3 conditions |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Always | In 2 conditions |
| LTBP4latent transforming growth factor beta binding protein 4 | Always | In 1 condition |
| MAB21L1mab-21 like 1 | Always | In 2 conditions |
| 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 |
| MOCS3molybdenum cofactor synthesis 3 | Always | In 1 condition |
Show 420 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| MRPS28mitochondrial ribosomal protein S28 | Always | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Always | In 2 conditions |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Always | In 1 condition |
| MYH3myosin heavy chain 3 | Always | In 3 conditions |
| MYMXmyomixer, myoblast fusion factor | Always | In 2 conditions |
| NALCNsodium leak channel, non-selective | Always | In 3 conditions |
| NBNnibrin | Always | In 1 condition |
| NLRP1NLR family pyrin domain containing 1 | Always | In 1 condition |
| NOTCH2notch receptor 2 | Always | In 2 conditions |
| NSD2nuclear receptor binding SET domain protein 2 | Always | In 1 condition |
| NXNnucleoredoxin | Always | In 2 conditions |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Always | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Always | In 1 condition |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Always | In 1 condition |
| PKDCCprotein kinase domain containing, cytoplasmic | Always | In 1 condition |
| POC1APOC1 centriolar protein A | Always | In 1 condition |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Always | In 1 condition |
| PRMT7protein arginine methyltransferase 7 | Always | In 2 conditions |
| PUF60poly(U) binding splicing factor 60 | Always | In 3 conditions |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Always | In 1 condition |
| RAC3Rac family small GTPase 3 | Always | In 1 condition |
| RIN2Ras and Rab interactor 2 | Always | In 2 conditions |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Always | In 2 conditions |
| RPL10ribosomal protein L10 | Always | In 2 conditions |
| SATB2SATB homeobox 2 | Always | In 4 conditions |
| SC5Dsterol-C5-desaturase | Always | In 2 conditions |
| SCAF4SR-related CTD associated factor 4 | Always | In 1 condition |
| SEC23ASEC23 homolog A, COPII component | Always | In 2 conditions |
| SETD5SET domain containing 5 | Always | In 2 conditions |
| SIN3ASIN3 transcription regulator family member A | Always | In 2 conditions |
| SLC6A17solute carrier family 6 member 17 | Always | In 2 conditions |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| TAF8TATA-box binding protein associated factor 8 | Always | In 1 condition |
| TBCEtubulin folding cofactor E | Always | In 2 conditions |
| TBX5T-box transcription factor 5 | Always | In 1 condition |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Always | In 4 conditions |
| UBAP2Lubiquitin associated protein 2 like | Always | In 1 condition |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | 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 |
| ABCC9ATP binding cassette subfamily C member 9 | Very often (80–99%) | In 2 conditions |
| ACTBactin beta | Very often (80–99%) | In 2 conditions |
| ACTG1actin gamma 1 | Very often (80–99%) | In 2 conditions |
| ADAMTSL2ADAMTS like 2 | Very often (80–99%) | In 2 conditions |
| ADSLadenylosuccinate lyase | Very often (80–99%) | In 2 conditions |
| ATP6V1AATPase H+ transporting V1 subunit A | Very often (80–99%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Very often (80–99%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Very often (80–99%) | In 2 conditions |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Very often (80–99%) | In 1 condition |
| BCL11ABCL11 transcription factor A | Very often (80–99%) | In 1 condition |
| BRD4bromodomain containing 4 | Very often (80–99%) | In 2 conditions |
| BRPF1bromodomain and PHD finger containing 1 | Very often (80–99%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Very often (80–99%) | In 1 condition |
| CASZ1castor zinc finger 1 | Very often (80–99%) | In 1 condition |
| CD96CD96 molecule | Very often (80–99%) | In 1 condition |
| CLCF1cardiotrophin like cytokine factor 1 | Very often (80–99%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Very often (80–99%) | In 1 condition |
| COL11A1collagen type XI alpha 1 chain | Very often (80–99%) | In 3 conditions |
| COL11A2collagen type XI alpha 2 chain | Very often (80–99%) | In 1 condition |
| CRLF1cytokine receptor like factor 1 | Very often (80–99%) | In 2 conditions |
| 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 |
| DVL1dishevelled segment polarity protein 1 | Very often (80–99%) | In 3 conditions |
| EIF4Heukaryotic translation initiation factor 4H | Very often (80–99%) | In 1 condition |
| ELNelastin | Very often (80–99%) | In 3 conditions |
| EXT1exostosin glycosyltransferase 1 | Very often (80–99%) | In 1 condition |
| FBN1fibrillin 1 | Very often (80–99%) | In 4 conditions |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Very often (80–99%) | In 2 conditions |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Very often (80–99%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Very often (80–99%) | In 1 condition |
| GPC6glypican 6 | 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 |
| HDAC8histone deacetylase 8 | Very often (80–99%) | In 2 conditions |
| HSPG2heparan sulfate proteoglycan 2 | Very often (80–99%) | In 2 conditions |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Very often (80–99%) | In 1 condition |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Very often (80–99%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Very often (80–99%) | In 1 condition |
| LTBP1latent transforming growth factor beta binding protein 1 | Very often (80–99%) | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Very often (80–99%) | In 3 conditions |
| LUZP1leucine zipper protein 1 | Very often (80–99%) | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Very often (80–99%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Very often (80–99%) | In 2 conditions |
| METTL27methyltransferase like 27 | Very often (80–99%) | In 1 condition |
| MID1midline 1 | 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 |
| NBASNBAS subunit of NRZ tethering complex | Very often (80–99%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Very often (80–99%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Very often (80–99%) | In 2 conditions |
| NSD1nuclear receptor binding SET domain protein 1 | Very often (80–99%) | In 1 condition |
| PDPNpodoplanin | Very often (80–99%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Very often (80–99%) | In 2 conditions |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Very often (80–99%) | In 2 conditions |
| PRDM16PR/SET domain 16 | Very often (80–99%) | In 1 condition |
| PRKCZprotein kinase C zeta | Very often (80–99%) | In 1 condition |
| PUS1pseudouridine synthase 1 | Very often (80–99%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Very often (80–99%) | In 3 conditions |
| RELREL proto-oncogene, NF-kB subunit | Very often (80–99%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Very often (80–99%) | In 1 condition |
| RFC2replication factor C subunit 2 | Very often (80–99%) | In 1 condition |
| RNF135ring finger protein 135 | Very often (80–99%) | In 1 condition |
| SKISKI proto-oncogene | Very often (80–99%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Very often (80–99%) | In 2 conditions |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Very often (80–99%) | In 2 conditions |
| SMC1Astructural maintenance of chromosomes 1A | Very often (80–99%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Very often (80–99%) | In 2 conditions |
| SNX14sorting nexin 14 | Very often (80–99%) | In 2 conditions |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Very often (80–99%) | In 2 conditions |
| SPENspen family transcriptional repressor | Very often (80–99%) | In 2 conditions |
| STX1Asyntaxin 1A | Very often (80–99%) | In 1 condition |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Very often (80–99%) | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Very often (80–99%) | In 2 conditions |
| TBL2transducin beta like 2 | Very often (80–99%) | In 1 condition |
| TMEM270transmembrane protein 270 | Very often (80–99%) | In 1 condition |
| TRIP11thyroid hormone receptor interactor 11 | Very often (80–99%) | In 2 conditions |
| UBE4Bubiquitination factor E4B | Very often (80–99%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Very often (80–99%) | In 1 condition |
| XPO1exportin 1 | Very often (80–99%) | In 1 condition |
| YARS2tyrosyl-tRNA synthetase 2 | Very often (80–99%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Often (30–79%) | In 1 condition |
| AFF4ALF transcription elongation factor 4 | Often (30–79%) | In 2 conditions |
| AHDC1AT-hook DNA binding motif containing 1 | Often (30–79%) | In 1 condition |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Often (30–79%) | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Often (30–79%) | In 1 condition |
| APCAPC regulator of Wnt signaling pathway | Often (30–79%) | In 1 condition |
| ARSKarylsulfatase family member K | Often (30–79%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Often (30–79%) | In 1 condition |
| ATP7AATPase copper transporting alpha | Often (30–79%) | In 2 conditions |
| B3GALT6beta-1,3-galactosyltransferase 6 | Often (30–79%) | In 2 conditions |
| BAP1BRCA1 associated deubiquitinase 1 | Often (30–79%) | In 1 condition |
| BCL11BBCL11 transcription factor B | Often (30–79%) | In 1 condition |
| BMP1bone morphogenetic protein 1 | Often (30–79%) | In 1 condition |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Often (30–79%) | In 1 condition |
| CAMTA1calmodulin binding transcription activator 1 | Often (30–79%) | In 2 conditions |
| CANT1calcium activated nucleotidase 1 | Often (30–79%) | In 1 condition |
| CASKcalcium/calmodulin dependent serine protein kinase | Often (30–79%) | In 2 conditions |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Often (30–79%) | In 2 conditions |
| CCNKcyclin K | Often (30–79%) | In 1 condition |
| CLCN6Cl-/H+ antiporter 6 | Often (30–79%) | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Often (30–79%) | In 2 conditions |
| COMTcatechol-O-methyltransferase | Often (30–79%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Often (30–79%) | In 1 condition |
| CUL7cullin 7 | Often (30–79%) | In 2 conditions |
| DBR1debranching RNA lariats 1 | Often (30–79%) | In 1 condition |
| DDR2discoidin domain receptor tyrosine kinase 2 | Often (30–79%) | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Often (30–79%) | In 2 conditions |
| 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 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Often (30–79%) | In 1 condition |
| EMILIN1elastin microfibril interfacer 1 | Often (30–79%) | In 1 condition |
| EXOC2exocyst complex component 2 | Often (30–79%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Often (30–79%) | In 1 condition |
| FAR1fatty acyl-CoA reductase 1 | Often (30–79%) | In 2 conditions |
| FGF3fibroblast growth factor 3 | Often (30–79%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Often (30–79%) | In 1 condition |
| FZD2frizzled class receptor 2 | Often (30–79%) | In 3 conditions |
| GON4Lgon-4 like | Often (30–79%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Often (30–79%) | In 1 condition |
| HIRAhistone cell cycle regulator | Often (30–79%) | In 1 condition |
| HMBShydroxymethylbilane synthase | Often (30–79%) | In 1 condition |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Often (30–79%) | In 1 condition |
| IFT80intraflagellar transport 80 | Often (30–79%) | In 1 condition |
| IFT81intraflagellar transport 81 | Often (30–79%) | In 1 condition |
| INTS1integrator complex subunit 1 | Often (30–79%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Often (30–79%) | In 1 condition |
| KAT6Blysine acetyltransferase 6B | Often (30–79%) | In 1 condition |
| KMT2Alysine methyltransferase 2A | Often (30–79%) | In 2 conditions |
| MAFMAF bZIP transcription factor | Often (30–79%) | In 2 conditions |
| MED12mediator complex subunit 12 | Often (30–79%) | In 3 conditions |
| METTL23methyltransferase 23, arginine | Often (30–79%) | In 1 condition |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Often (30–79%) | In 1 condition |
| MLXIPLMLX interacting protein like | Often (30–79%) | In 1 condition |
| MYO18Bmyosin XVIIIB | Often (30–79%) | In 1 condition |
| MYOD1myogenic differentiation 1 | Often (30–79%) | In 1 condition |
| NEK9NIMA related kinase 9 | Often (30–79%) | In 1 condition |
| NOS3nitric oxide synthase 3 | Often (30–79%) | In 1 condition |
| OBSL1obscurin like cytoskeletal adaptor 1 | Often (30–79%) | In 2 conditions |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Often (30–79%) | In 1 condition |
| OTUD6BOTU deubiquitinase 6B | Often (30–79%) | In 2 conditions |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Often (30–79%) | In 2 conditions |
| PLAAphospholipase A2 activating protein | Often (30–79%) | In 2 conditions |
| PMM2phosphomannomutase 2 | Often (30–79%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Often (30–79%) | In 1 condition |
| POU4F1POU class 4 homeobox 1 | Often (30–79%) | In 1 condition |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Often (30–79%) | In 1 condition |
| PTCH1patched 1 | Often (30–79%) | In 1 condition |
| PTH1Rparathyroid hormone 1 receptor | Often (30–79%) | In 1 condition |
| PYCR1pyrroline-5-carboxylate reductase 1 | Often (30–79%) | In 1 condition |
| RAP1BRAP1B, member of RAS oncogene family | Often (30–79%) | In 1 condition |
| RIC1RIC1 partner of RAB6A GEF complex | Often (30–79%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Often (30–79%) | In 2 conditions |
| RREB1ras responsive element binding protein 1 | Often (30–79%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Often (30–79%) | In 1 condition |
| SETBP1SET binding protein 1 | Often (30–79%) | In 1 condition |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Often (30–79%) | In 1 condition |
| TAF1TATA-box binding protein associated factor 1 | Often (30–79%) | In 2 conditions |
| TASP1taspase 1 | Often (30–79%) | In 1 condition |
| TBX1T-box transcription factor 1 | Often (30–79%) | In 1 condition |
| TET3tet methylcytosine dioxygenase 3 | Often (30–79%) | In 1 condition |
| THSD1thrombospondin type 1 domain containing 1 | Often (30–79%) | In 1 condition |
| TMEM147transmembrane protein 147 | Often (30–79%) | In 1 condition |
| TMEM94transmembrane protein 94 | Often (30–79%) | In 1 condition |
| TRIM8tripartite motif containing 8 | Often (30–79%) | In 1 condition |
| TUBBtubulin beta class I | Often (30–79%) | In 2 conditions |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Often (30–79%) | In 1 condition |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Often (30–79%) | In 1 condition |
| WDR35WD repeat domain 35 | Often (30–79%) | In 1 condition |
| WNT5AWnt family member 5A | Often (30–79%) | In 2 conditions |
| XYLT1xylosyltransferase 1 | Often (30–79%) | In 2 conditions |
| ZFXzinc finger protein X-linked | Often (30–79%) | In 1 condition |
| ABCC8ATP binding cassette subfamily C member 8 | Sometimes (5–29%) | In 1 condition |
| ACTA1actin alpha 1, skeletal muscle | Sometimes (5–29%) | In 1 condition |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Sometimes (5–29%) | In 1 condition |
| ARID1AAT-rich interaction domain 1A | Sometimes (5–29%) | In 1 condition |
| ARID1BAT-rich interaction domain 1B | Sometimes (5–29%) | In 2 conditions |
| ARL6ARF like GTPase 6 | Sometimes (5–29%) | In 1 condition |
| ATXN7L3ataxin 7 like 3 | Sometimes (5–29%) | In 1 condition |
| B4GALT1beta-1,4-galactosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| BBIP1BBSome interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Sometimes (5–29%) | In 1 condition |
| BBS10Bardet-Biedl syndrome 10 | Sometimes (5–29%) | In 1 condition |
| BBS12Bardet-Biedl syndrome 12 | Sometimes (5–29%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Sometimes (5–29%) | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Sometimes (5–29%) | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Sometimes (5–29%) | In 1 condition |
| BBS7Bardet-Biedl syndrome 7 | Sometimes (5–29%) | In 1 condition |
| BBS9Bardet-Biedl syndrome 9 | Sometimes (5–29%) | In 1 condition |
| BRF1BRF1 general transcription factor IIIB subunit | Sometimes (5–29%) | In 1 condition |
| CDC42cell division cycle 42 | Sometimes (5–29%) | In 2 conditions |
| CDH2cadherin 2 | Sometimes (5–29%) | In 1 condition |
| CEP19centrosomal protein 19 | Sometimes (5–29%) | In 1 condition |
| CEP290centrosomal protein 290 | Sometimes (5–29%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Sometimes (5–29%) | In 1 condition |
| CHRNGcholinergic receptor nicotinic gamma subunit | Sometimes (5–29%) | In 2 conditions |
| CLCN3Cl-/H+ antiporter 3 | Sometimes (5–29%) | In 1 condition |
| COG3component of oligomeric golgi complex 3 | 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 |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 2 conditions |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 1 condition |
| DLL3delta like canonical Notch ligand 3 | Sometimes (5–29%) | In 1 condition |
| ERFETS2 repressor factor | Sometimes (5–29%) | In 1 condition |
| EXOC7exocyst complex component 7 | Sometimes (5–29%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| FBXL4F-box and leucine rich repeat protein 4 | Sometimes (5–29%) | In 1 condition |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| FEM1Bfem-1 homolog B | Sometimes (5–29%) | In 1 condition |
| FILIP1filamin A interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| FOXP2forkhead box P2 | Sometimes (5–29%) | In 1 condition |
| FRYLFRY like transcription coactivator | Sometimes (5–29%) | In 1 condition |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Sometimes (5–29%) | In 1 condition |
| GAD1glutamate decarboxylase 1 | Sometimes (5–29%) | In 1 condition |
| GLB1galactosidase beta 1 | Sometimes (5–29%) | In 1 condition |
| GTF3C3general transcription factor IIIC subunit 3 | Sometimes (5–29%) | In 1 condition |
| H3-3BH3.3 histone B | Sometimes (5–29%) | In 1 condition |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Sometimes (5–29%) | In 1 condition |
| HES7hes family bHLH transcription factor 7 | Sometimes (5–29%) | In 1 condition |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Sometimes (5–29%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Sometimes (5–29%) | In 1 condition |
| IFT172intraflagellar transport 172 | Sometimes (5–29%) | In 1 condition |
| IFT27intraflagellar transport 27 | Sometimes (5–29%) | In 1 condition |
| IFT74intraflagellar transport 74 | Sometimes (5–29%) | In 1 condition |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Sometimes (5–29%) | In 1 condition |
| KDM4Blysine demethylase 4B | Sometimes (5–29%) | In 1 condition |
| KIAA0753KIAA0753 | Sometimes (5–29%) | In 1 condition |
| KIF11kinesin family member 11 | Sometimes (5–29%) | In 2 conditions |
| KIF26Akinesin family member 26A | Sometimes (5–29%) | In 1 condition |
| KIF7kinesin family member 7 | Sometimes (5–29%) | In 1 condition |
| KITKIT proto-oncogene, receptor tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| KLHL41kelch like family member 41 | Sometimes (5–29%) | In 1 condition |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Sometimes (5–29%) | In 1 condition |
| LMNB1lamin B1 | Sometimes (5–29%) | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Sometimes (5–29%) | In 1 condition |
| LZTR1leucine zipper like post translational regulator 1 | Sometimes (5–29%) | In 1 condition |
| MAB21L2mab-21 like 2 | Sometimes (5–29%) | In 1 condition |
| MADDMAP kinase activating death domain | Sometimes (5–29%) | In 1 condition |
| MAPK1mitogen-activated protein kinase 1 | Sometimes (5–29%) | In 1 condition |
| MAPRE2microtubule associated protein RP/EB family member 2 | Sometimes (5–29%) | In 1 condition |
| MARK2microtubule affinity regulating kinase 2 | Sometimes (5–29%) | In 1 condition |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 1 condition |
| MEGF8multiple EGF like domains 8 | Sometimes (5–29%) | In 1 condition |
| MEIS2Meis homeobox 2 | Sometimes (5–29%) | In 1 condition |
| MESP2mesoderm posterior bHLH transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Sometimes (5–29%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| MPC1mitochondrial pyruvate carrier 1 | 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 |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| NEBnebulin | Sometimes (5–29%) | In 2 conditions |
| NF1neurofibromin 1 | Sometimes (5–29%) | In 1 condition |
| NOTCH3notch receptor 3 | Sometimes (5–29%) | In 2 conditions |
| NPHP1nephrocystin 1 | Sometimes (5–29%) | In 1 condition |
| NSRP1nuclear speckle splicing regulatory protein 1 | Sometimes (5–29%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sometimes (5–29%) | In 1 condition |
| PAHphenylalanine hydroxylase | Sometimes (5–29%) | In 1 condition |
| PCDHGC4protocadherin gamma subfamily C, 4 | Sometimes (5–29%) | In 1 condition |
| PDE4Dphosphodiesterase 4D | Sometimes (5–29%) | In 1 condition |
| PGM2L1phosphoglucomutase 2 like 1 | Sometimes (5–29%) | In 1 condition |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Sometimes (5–29%) | In 1 condition |
| PLPBPpyridoxal phosphate binding protein | Sometimes (5–29%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | 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 |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| PTENphosphatase and tensin homolog | Sometimes (5–29%) | In 2 conditions |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Sometimes (5–29%) | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Sometimes (5–29%) | In 2 conditions |
| RAI1retinoic acid induced 1 | Sometimes (5–29%) | In 1 condition |
| RFX7regulatory factor X7 | Sometimes (5–29%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Sometimes (5–29%) | In 1 condition |
| RIPPLY2ripply transcriptional repressor 2 | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Sometimes (5–29%) | In 1 condition |
| SCLT1sodium channel and clathrin linker 1 | Sometimes (5–29%) | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Sometimes (5–29%) | In 1 condition |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Sometimes (5–29%) | In 1 condition |
| SHMT2serine hydroxymethyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| SLC4A10solute carrier family 4 member 10 | Sometimes (5–29%) | In 1 condition |
| SLC9A7solute carrier family 9 member A7 | Sometimes (5–29%) | In 1 condition |
| SLF2SMC5/6 complex localization factor 2 | Sometimes (5–29%) | In 1 condition |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Sometimes (5–29%) | In 1 condition |
| SMG8SMG8 nonsense mediated mRNA decay factor | Sometimes (5–29%) | In 1 condition |
| SMOC1SPARC related modular calcium binding 1 | Sometimes (5–29%) | In 1 condition |
| SNAI2snail family transcriptional repressor 2 | Sometimes (5–29%) | In 1 condition |
| SOX9SRY-box transcription factor 9 | Sometimes (5–29%) | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Sometimes (5–29%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sometimes (5–29%) | In 1 condition |
| TAF6TATA-box binding protein associated factor 6 | Sometimes (5–29%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Sometimes (5–29%) | In 1 condition |
| TBC1D32TBC1 domain family member 32 | Sometimes (5–29%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Sometimes (5–29%) | In 2 conditions |
| TBX6T-box transcription factor 6 | Sometimes (5–29%) | In 1 condition |
| TMEM53transmembrane protein 53 | Sometimes (5–29%) | In 1 condition |
| TPM3tropomyosin 3 | Sometimes (5–29%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Sometimes (5–29%) | In 1 condition |
| TRIOtrio Rho guanine nucleotide exchange factor | Sometimes (5–29%) | In 3 conditions |
| TRIP12thyroid hormone receptor interactor 12 | Sometimes (5–29%) | In 1 condition |
| TRMT10AtRNA methyltransferase 10A | Sometimes (5–29%) | In 1 condition |
| TTC5tetratricopeptide repeat domain 5 | Sometimes (5–29%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Sometimes (5–29%) | In 1 condition |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Sometimes (5–29%) | In 1 condition |
| UGP2UDP-glucose pyrophosphorylase 2 | Sometimes (5–29%) | In 1 condition |
| USP9Xubiquitin specific peptidase 9 X-linked | Sometimes (5–29%) | In 2 conditions |
| WDPCPWD repeat containing planar cell polarity effector | Sometimes (5–29%) | In 1 condition |
| XYLT2xylosyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Rarely (1–4%) | In 1 condition |
| CHD2chromodomain helicase DNA binding protein 2 | Rarely (1–4%) | In 1 condition |
| EPG5ectopic P-granules 5 autophagy tethering factor | Rarely (1–4%) | In 1 condition |
| FLNAfilamin A | Rarely (1–4%) | In 1 condition |
| GJA5gap junction protein alpha 5 | Rarely (1–4%) | In 1 condition |
| GJA8gap junction protein alpha 8 | Rarely (1–4%) | In 1 condition |
| H3-3AH3.3 histone A | Rarely (1–4%) | In 1 condition |
| NEXMIFneurite extension and migration factor | Rarely (1–4%) | In 1 condition |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Rarely (1–4%) | In 1 condition |
| PTBP1polypyrimidine tract binding protein 1 | Rarely (1–4%) | In 1 condition |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Rarely (1–4%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Rarely (1–4%) | In 1 condition |
| SLC6A1solute carrier family 6 member 1 | Rarely (1–4%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Rarely (1–4%) | In 1 condition |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Not recorded | In 1 condition |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Not recorded | In 1 condition |
| ARXaristaless related homeobox | Not recorded | In 1 condition |
| ATN1atrophin 1 | Not recorded | In 1 condition |
| AVParginine vasopressin | Not recorded | In 1 condition |
| BRAT1BRCA1 associated ATM activator 1 | Not recorded | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | 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 |
| CBLCbl proto-oncogene | Not recorded | In 1 condition |
| CDH11cadherin 11 | Not recorded | In 1 condition |
| CLTCclathrin heavy chain | Not recorded | In 1 condition |
| CRTAPcartilage associated protein | Not recorded | In 1 condition |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Not recorded | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Not recorded | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Not recorded | In 1 condition |
| GJA1gap junction protein alpha 1 | Not recorded | In 1 condition |
| GLIS3GLIS family zinc finger 3 | Not recorded | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Not recorded | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Not recorded | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Not recorded | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Not recorded | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Not recorded | In 1 condition |
| IGF1Rinsulin like growth factor 1 receptor | Not recorded | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Not recorded | In 1 condition |
| MOCS1molybdenum cofactor synthesis 1 | Not recorded | In 1 condition |
| MOCS2molybdenum cofactor synthesis 2 | Not recorded | In 1 condition |
| MUSKmuscle associated receptor tyrosine kinase | Not recorded | In 1 condition |
| NFIBnuclear factor I B | Not recorded | In 1 condition |
| NRASNRAS proto-oncogene, GTPase | Not recorded | In 1 condition |
| OCLNoccludin | Not recorded | In 1 condition |
| PCLOpiccolo presynaptic cytomatrix protein | Not recorded | In 1 condition |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Not recorded | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Not recorded | In 1 condition |
| PORcytochrome p450 oxidoreductase | Not recorded | In 1 condition |
| SKIC3SKI3 subunit of superkiller complex | Not recorded | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Not recorded | In 1 condition |
| SLC2A10solute carrier family 2 member 10 | Not recorded | In 1 condition |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Not recorded | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Not recorded | In 1 condition |
| STAG2STAG2 cohesin complex component | Not recorded | In 1 condition |
| TENM3teneurin transmembrane protein 3 | Not recorded | In 1 condition |
| TMEM70transmembrane protein 70 | Not recorded | In 1 condition |
| TNNI2troponin I2, fast skeletal type | Not recorded | In 1 condition |
| TNPO2transportin 2 | Not recorded | In 1 condition |
| TRAPPC4trafficking protein particle complex subunit 4 | Not recorded | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | Not recorded | In 2 conditions |
| 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.
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.
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks