Trait
Thin red part of the upper lip
Clinical name: Thin upper lip vermilion
Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).
Summary
- Also called
- Thin upper lip, Decreased height of upper lip vermilion, Decreased volume of upper lip, Decreased volume of upper lip vermilion, Thin vermilion border of upper lip
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Thin red part of the upper lip 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 |
|---|---|---|
| ABCC9ATP binding cassette subfamily C member 9 | Always | In 1 condition |
| ACTBactin beta | Always | In 2 conditions |
| ADAMTSL2ADAMTS like 2 | Always | In 2 conditions |
| ADSLadenylosuccinate lyase | Always | In 2 conditions |
| AMMECR1AMMECR nuclear protein 1 | Always | In 1 condition |
| AMOTL1angiomotin like 1 | Always | In 1 condition |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Always | In 1 condition |
| ARID2AT-rich interaction domain 2 | Always | In 2 conditions |
| ARXaristaless related homeobox | Always | In 1 condition |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Always | In 2 conditions |
| ATP9AATPase phospholipid transporting 9A | Always | In 1 condition |
| CACNA1Ccalcium voltage-gated channel subunit alpha1 C | Always | In 2 conditions |
| CCNKcyclin K | Always | In 1 condition |
| CDC42cell division cycle 42 | Always | In 2 conditions |
| CDH11cadherin 11 | Always | In 2 conditions |
| CEP295centrosomal protein 295 | Always | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Always | In 2 conditions |
| CLCN3Cl-/H+ antiporter 3 | Always | In 1 condition |
| CNOT2CCR4-NOT transcription complex subunit 2 | Always | In 1 condition |
| CPLX1complexin 1 | Always | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Always | In 2 conditions |
| DCPSdecapping enzyme, scavenger | Always | In 1 condition |
| DHX9DExH-box helicase 9 | Always | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Always | In 1 condition |
| EP300EP300 lysine acetyltransferase | Always | In 2 conditions |
| EXOSC2exosome component 2 | Always | In 1 condition |
| IFIH1interferon induced with helicase C domain 1 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 1 condition |
| INTS11integrator complex subunit 11 | Always | In 1 condition |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Always | In 2 conditions |
| KCNK3potassium two pore domain channel subfamily K member 3 | Always | In 1 condition |
| KCNK4potassium two pore domain channel subfamily K member 4 | Always | In 1 condition |
| KDM1Alysine demethylase 1A | Always | In 2 conditions |
| MEIS2Meis homeobox 2 | Always | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Always | In 1 condition |
| MYMXmyomixer, myoblast fusion factor | Always | In 1 condition |
| NAA80N-alpha-acetyltransferase 80, NatH catalytic subunit | Always | In 1 condition |
| OPHN1oligophrenin 1 | Always | In 1 condition |
| PAK3p21 (RAC1) activated kinase 3 | Always | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Always | In 1 condition |
Show 306 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Always | In 1 condition |
| PITX2paired like homeodomain 2 | Always | In 1 condition |
| PPFIA3PPFI scaffold protein A3 | Always | In 1 condition |
| PTRH2peptidyl-tRNA hydrolase 2 | Always | In 2 conditions |
| RAD21RAD21 cohesin complex component | Always | In 2 conditions |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Always | In 2 conditions |
| SEC23ASEC23 homolog A, COPII component | Always | In 1 condition |
| SH3PXD2BSH3 and PX domains 2B | Always | In 1 condition |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Always | In 1 condition |
| TBCEtubulin folding cofactor E | Always | In 1 condition |
| TM2D3TM2 domain containing 3 | Always | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Always | In 3 conditions |
| UBAP2Lubiquitin associated protein 2 like | Always | In 1 condition |
| UBE3Bubiquitin protein ligase E3B | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| VPS35LVPS35 endosomal protein sorting factor like | Always | In 1 condition |
| VPS51VPS51 subunit of GARP complex | Always | In 1 condition |
| WDR19WD repeat domain 19 | Always | In 1 condition |
| ZNF407zinc finger protein 407 | Always | In 1 condition |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Very often (80–99%) | In 1 condition |
| ASPMassembly factor for spindle microtubules | Very often (80–99%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Very often (80–99%) | In 2 conditions |
| BCL11ABCL11 transcription factor A | Very often (80–99%) | In 1 condition |
| BCL11BBCL11 transcription factor B | Very often (80–99%) | In 1 condition |
| BMP2bone morphogenetic protein 2 | Very often (80–99%) | In 1 condition |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Very often (80–99%) | In 1 condition |
| CDK6cyclin dependent kinase 6 | Very often (80–99%) | In 1 condition |
| CENPEcentromere protein E | Very often (80–99%) | In 1 condition |
| CEP135centrosomal protein 135 | Very often (80–99%) | In 1 condition |
| CEP152centrosomal protein 152 | Very often (80–99%) | In 1 condition |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Very often (80–99%) | In 1 condition |
| CITcitron rho-interacting serine/threonine kinase | Very often (80–99%) | In 1 condition |
| COPB2coat protein complex I subunit beta 2 | Very often (80–99%) | In 1 condition |
| CPAPcentrosome assembly and centriole elongation protein | Very often (80–99%) | In 1 condition |
| DSEdermatan sulfate epimerase | Very often (80–99%) | In 1 condition |
| EXT1exostosin glycosyltransferase 1 | Very often (80–99%) | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Very often (80–99%) | In 2 conditions |
| HDAC8histone deacetylase 8 | Very often (80–99%) | In 1 condition |
| IRF6interferon regulatory factor 6 | Very often (80–99%) | In 1 condition |
| IRX5iroquois homeobox 5 | Very often (80–99%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Very often (80–99%) | In 2 conditions |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Very often (80–99%) | In 1 condition |
| KIF14kinesin family member 14 | Very often (80–99%) | In 1 condition |
| KNL1kinetochore scaffold 1 | Very often (80–99%) | In 1 condition |
| LAS1LLAS1 like ribosome biogenesis factor | Very often (80–99%) | In 1 condition |
| MCM7minichromosome maintenance complex component 7 | Very often (80–99%) | In 1 condition |
| MCPH1microcephalin 1 | Very often (80–99%) | In 1 condition |
| METTL5methyltransferase 5, N6-adenosine | Very often (80–99%) | In 1 condition |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Very often (80–99%) | In 1 condition |
| NCAPD3non-SMC condensin II complex subunit D3 | Very often (80–99%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Very often (80–99%) | In 1 condition |
| NOGnoggin | Very often (80–99%) | In 1 condition |
| NUP37nucleoporin 37 | Very often (80–99%) | In 1 condition |
| PACS2phosphofurin acidic cluster sorting protein 2 | Very often (80–99%) | In 1 condition |
| PDCD6IPprogrammed cell death 6 interacting protein | Very often (80–99%) | In 1 condition |
| PHC1polyhomeotic homolog 1 | Very often (80–99%) | In 1 condition |
| POLR3ARNA polymerase III subunit A | Very often (80–99%) | In 1 condition |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Very often (80–99%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Very often (80–99%) | In 3 conditions |
| PYCR2pyrroline-5-carboxylate reductase 2 | Very often (80–99%) | In 1 condition |
| QRICH1glutamine rich 1 | Very often (80–99%) | In 1 condition |
| RNF135ring finger protein 135 | Very often (80–99%) | In 1 condition |
| SARS1seryl-tRNA synthetase 1 | Very often (80–99%) | In 1 condition |
| SASS6SAS-6 centriolar assembly protein | Very often (80–99%) | In 1 condition |
| SMAD4SMAD family member 4 | Very often (80–99%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Very often (80–99%) | In 2 conditions |
| SMC3structural maintenance of chromosomes 3 | Very often (80–99%) | In 1 condition |
| STILSTIL centriolar assembly protein | Very often (80–99%) | In 1 condition |
| TAF13TATA-box binding protein associated factor 13 | Very often (80–99%) | In 1 condition |
| TOP2BDNA topoisomerase II beta | Very often (80–99%) | In 1 condition |
| TRAPPC10trafficking protein particle complex subunit 10 | Very often (80–99%) | In 1 condition |
| TRAPPC14trafficking protein particle complex subunit 14 | Very often (80–99%) | In 1 condition |
| TRAPPC9trafficking protein particle complex subunit 9 | Very often (80–99%) | In 1 condition |
| WARS1tryptophanyl-tRNA synthetase 1 | Very often (80–99%) | In 1 condition |
| WDR62WD repeat domain 62 | Very often (80–99%) | In 1 condition |
| AARS1alanyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| ACBD6acyl-CoA binding domain containing 6 | Often (30–79%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Often (30–79%) | In 2 conditions |
| AGO2argonaute RISC catalytic component 2 | Often (30–79%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Often (30–79%) | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Often (30–79%) | In 1 condition |
| ANKRD17ankyrin repeat domain 17 | Often (30–79%) | In 1 condition |
| ARID1AAT-rich interaction domain 1A | Often (30–79%) | In 1 condition |
| ARID1BAT-rich interaction domain 1B | Often (30–79%) | In 2 conditions |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Often (30–79%) | In 1 condition |
| BCRBCR activator of RhoGEF and GTPase | Often (30–79%) | In 1 condition |
| BPTFbromodomain PHD finger transcription factor | Often (30–79%) | In 2 conditions |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Often (30–79%) | In 1 condition |
| CASP2caspase 2 | Often (30–79%) | In 1 condition |
| CCNQcyclin Q | Often (30–79%) | In 2 conditions |
| CDH2cadherin 2 | 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 |
| CRKLCRK like proto-oncogene, adaptor protein | Often (30–79%) | In 1 condition |
| CTCFCCCTC-binding factor | Often (30–79%) | In 2 conditions |
| DDX59DEAD-box helicase 59 | Often (30–79%) | In 1 condition |
| DPF2double PHD fingers 2 | Often (30–79%) | In 2 conditions |
| DVL1dishevelled segment polarity protein 1 | Often (30–79%) | In 2 conditions |
| EBF3EBF transcription factor 3 | Often (30–79%) | In 2 conditions |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Often (30–79%) | In 1 condition |
| EIF5Aeukaryotic translation initiation factor 5A | Often (30–79%) | In 1 condition |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | 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 |
| FAR1fatty acyl-CoA reductase 1 | Often (30–79%) | In 2 conditions |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Often (30–79%) | In 1 condition |
| FBN1fibrillin 1 | Often (30–79%) | In 2 conditions |
| FGFR2fibroblast growth factor receptor 2 | Often (30–79%) | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Often (30–79%) | In 1 condition |
| GATAD2BGATA zinc finger domain containing 2B | Often (30–79%) | In 2 conditions |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Often (30–79%) | In 1 condition |
| HIVEP2HIVEP zinc finger 2 | Often (30–79%) | In 1 condition |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Often (30–79%) | In 1 condition |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Often (30–79%) | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Often (30–79%) | In 1 condition |
| IFT43intraflagellar transport 43 | Often (30–79%) | In 1 condition |
| KDM3Blysine demethylase 3B | Often (30–79%) | In 1 condition |
| KDM6Alysine demethylase 6A | Often (30–79%) | In 1 condition |
| KMT2Alysine methyltransferase 2A | Often (30–79%) | In 2 conditions |
| KMT2Dlysine methyltransferase 2D | Often (30–79%) | In 2 conditions |
| LTBP3latent transforming growth factor beta binding protein 3 | Often (30–79%) | In 1 condition |
| MAFMAF bZIP transcription factor | Often (30–79%) | In 2 conditions |
| MAGEL2MAGE family member L2 | Often (30–79%) | In 3 conditions |
| MAN1B1mannosidase alpha class 1B member 1 | Often (30–79%) | In 2 conditions |
| MAPK1mitogen-activated protein kinase 1 | Often (30–79%) | In 1 condition |
| MAU2MAU2 sister chromatid cohesion factor | Often (30–79%) | In 1 condition |
| MCTP2multiple C2 and transmembrane domain containing 2 | Often (30–79%) | In 1 condition |
| MKRN3makorin ring finger protein 3 | Often (30–79%) | In 1 condition |
| MYO18Bmyosin XVIIIB | Often (30–79%) | In 1 condition |
| NPAP1nuclear pore associated protein 1 | Often (30–79%) | In 1 condition |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Often (30–79%) | In 1 condition |
| OTUD6BOTU deubiquitinase 6B | Often (30–79%) | In 2 conditions |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Often (30–79%) | In 1 condition |
| PCGF2polycomb group ring finger 2 | Often (30–79%) | In 1 condition |
| PGM2L1phosphoglucomutase 2 like 1 | Often (30–79%) | In 1 condition |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Often (30–79%) | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Often (30–79%) | In 1 condition |
| PLPBPpyridoxal phosphate binding protein | Often (30–79%) | In 1 condition |
| PMM2phosphomannomutase 2 | Often (30–79%) | In 2 conditions |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 2 conditions |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Often (30–79%) | In 1 condition |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Often (30–79%) | In 1 condition |
| PWAR1Prader Willi/Angelman region RNA 1 | Often (30–79%) | In 1 condition |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Often (30–79%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Often (30–79%) | In 1 condition |
| RPL10ribosomal protein L10 | Often (30–79%) | In 3 conditions |
| SATB2SATB homeobox 2 | Often (30–79%) | In 1 condition |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Often (30–79%) | In 1 condition |
| SETD5SET domain containing 5 | Often (30–79%) | In 1 condition |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Often (30–79%) | In 2 conditions |
| 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 2 conditions |
| 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 2 conditions |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Often (30–79%) | In 1 condition |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Often (30–79%) | In 1 condition |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Often (30–79%) | In 2 conditions |
| SOX11SRY-box transcription factor 11 | Often (30–79%) | In 1 condition |
| SOX4SRY-box transcription factor 4 | Often (30–79%) | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Often (30–79%) | In 2 conditions |
| SRRM2serine/arginine repetitive matrix 2 | Often (30–79%) | In 1 condition |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | 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 |
| TBC1D24TBC1 domain family member 24 | Often (30–79%) | In 2 conditions |
| TLK2tousled like kinase 2 | Often (30–79%) | In 1 condition |
| TMEM94transmembrane protein 94 | Often (30–79%) | In 1 condition |
| TPRtranslocated promoter region, nuclear basket protein | Often (30–79%) | In 1 condition |
| TTC5tetratricopeptide repeat domain 5 | Often (30–79%) | In 1 condition |
| WASHC4WASH complex subunit 4 | Often (30–79%) | In 1 condition |
| ZFXzinc finger protein X-linked | Often (30–79%) | In 1 condition |
| ADARB1adenosine deaminase RNA specific B1 | Sometimes (5–29%) | In 1 condition |
| ADGRG6adhesion G protein-coupled receptor G6 | Sometimes (5–29%) | In 1 condition |
| AFF3ALF transcription elongation factor 3 | Sometimes (5–29%) | In 1 condition |
| AFF4ALF transcription elongation factor 4 | Sometimes (5–29%) | In 1 condition |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Sometimes (5–29%) | In 1 condition |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Sometimes (5–29%) | In 2 conditions |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Sometimes (5–29%) | In 1 condition |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sometimes (5–29%) | In 2 conditions |
| ARMC9armadillo repeat containing 9 | Sometimes (5–29%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| ASXL2ASXL transcriptional regulator 2 | Sometimes (5–29%) | In 1 condition |
| ASXL3ASXL transcriptional regulator 3 | 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 |
| BCKDKbranched chain keto acid dehydrogenase kinase | Sometimes (5–29%) | In 1 condition |
| CAPRIN1cell cycle associated protein 1 | Sometimes (5–29%) | In 1 condition |
| CDC42BPBCDC42 binding protein kinase beta | Sometimes (5–29%) | In 1 condition |
| CDK13cyclin dependent kinase 13 | Sometimes (5–29%) | In 1 condition |
| CSNK2A1casein kinase 2 alpha 1 | Sometimes (5–29%) | In 1 condition |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 2 conditions |
| CUX1cut like homeobox 1 | Sometimes (5–29%) | In 1 condition |
| DDB1damage specific DNA binding protein 1 | Sometimes (5–29%) | In 1 condition |
| DHPSdeoxyhypusine synthase | Sometimes (5–29%) | In 1 condition |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Sometimes (5–29%) | In 2 conditions |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Sometimes (5–29%) | In 1 condition |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| GAD1glutamate decarboxylase 1 | Sometimes (5–29%) | In 1 condition |
| GJA5gap junction protein alpha 5 | Sometimes (5–29%) | In 1 condition |
| GJA8gap junction protein alpha 8 | Sometimes (5–29%) | In 1 condition |
| GNAI1G protein subunit alpha i1 | Sometimes (5–29%) | In 1 condition |
| GNB2G protein subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| HK1hexokinase 1 | Sometimes (5–29%) | In 1 condition |
| KATNB1katanin regulatory subunit B1 | Sometimes (5–29%) | In 1 condition |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Sometimes (5–29%) | In 1 condition |
| KDM5Clysine demethylase 5C | Sometimes (5–29%) | In 1 condition |
| KIF15kinesin family member 15 | Sometimes (5–29%) | In 1 condition |
| KLHL20kelch like family member 20 | Sometimes (5–29%) | In 1 condition |
| MAPRE2microtubule associated protein RP/EB family member 2 | Sometimes (5–29%) | In 1 condition |
| MED12mediator complex subunit 12 | Sometimes (5–29%) | In 1 condition |
| MED12Lmediator complex subunit 12L | Sometimes (5–29%) | In 1 condition |
| MEF2Cmyocyte enhancer factor 2C | Sometimes (5–29%) | In 1 condition |
| MPC1mitochondrial pyruvate carrier 1 | Sometimes (5–29%) | In 1 condition |
| NDNnecdin, MAGE family member | Sometimes (5–29%) | In 1 condition |
| NONOnon-POU domain containing octamer binding | Sometimes (5–29%) | In 1 condition |
| OCA2OCA2 melanosomal transmembrane protein | Sometimes (5–29%) | In 1 condition |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Sometimes (5–29%) | In 1 condition |
| ODC1ornithine decarboxylase 1 | Sometimes (5–29%) | In 1 condition |
| PACS1phosphofurin acidic cluster sorting protein 1 | Sometimes (5–29%) | In 2 conditions |
| PDE4Dphosphodiesterase 4D | Sometimes (5–29%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Sometimes (5–29%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sometimes (5–29%) | In 1 condition |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Sometimes (5–29%) | In 1 condition |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Sometimes (5–29%) | In 1 condition |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| PURApurine rich element binding protein A | Sometimes (5–29%) | In 1 condition |
| RAI1retinoic acid induced 1 | Sometimes (5–29%) | In 1 condition |
| RAP1BRAP1B, member of RAS oncogene family | 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 |
| SETBP1SET binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SHMT2serine hydroxymethyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| SIM1SIM bHLH transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Sometimes (5–29%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Sometimes (5–29%) | In 1 condition |
| SLC6A1solute carrier family 6 member 1 | Sometimes (5–29%) | In 2 conditions |
| SLC6A11solute carrier family 6 member 11 | Sometimes (5–29%) | In 1 condition |
| SLC9A7solute carrier family 9 member A7 | Sometimes (5–29%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Sometimes (5–29%) | In 2 conditions |
| SMPD4sphingomyelin phosphodiesterase 4 | Sometimes (5–29%) | In 1 condition |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| STEEP1STING1 ER exit protein 1 | Sometimes (5–29%) | In 1 condition |
| SYT1synaptotagmin 1 | Sometimes (5–29%) | In 2 conditions |
| TAF6TATA-box binding protein associated factor 6 | Sometimes (5–29%) | In 1 condition |
| TBC1D32TBC1 domain family member 32 | Sometimes (5–29%) | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Sometimes (5–29%) | In 1 condition |
| TMEM147transmembrane protein 147 | Sometimes (5–29%) | In 1 condition |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Sometimes (5–29%) | In 1 condition |
| TRIOtrio Rho guanine nucleotide exchange factor | Sometimes (5–29%) | In 1 condition |
| TRIP12thyroid hormone receptor interactor 12 | Sometimes (5–29%) | In 1 condition |
| TRMT10AtRNA methyltransferase 10A | Sometimes (5–29%) | In 1 condition |
| TUBGCP2tubulin gamma complex component 2 | Sometimes (5–29%) | In 1 condition |
| USP9Xubiquitin specific peptidase 9 X-linked | Sometimes (5–29%) | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Sometimes (5–29%) | In 2 conditions |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Sometimes (5–29%) | In 1 condition |
| WDR26WD repeat domain 26 | Sometimes (5–29%) | In 1 condition |
| WDR83OSWD repeat domain 83 opposite strand | Sometimes (5–29%) | In 1 condition |
| ZNF292zinc finger protein 292 | Sometimes (5–29%) | In 1 condition |
| ZNF526zinc finger protein 526 | Sometimes (5–29%) | In 1 condition |
| CHD2chromodomain helicase DNA binding protein 2 | Rarely (1–4%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | 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 |
| RNU4-2RNA, U4 small nuclear 2 | 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 |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Rarely (1–4%) | In 1 condition |
| ACTG1actin gamma 1 | Not recorded | In 1 condition |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Not recorded | In 1 condition |
| AGO1argonaute RISC component 1 | Not recorded | In 1 condition |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Not recorded | In 1 condition |
| ATN1atrophin 1 | Not recorded | In 1 condition |
| ATRXATRX chromatin remodeler | Not recorded | In 1 condition |
| CDK10cyclin dependent kinase 10 | Not recorded | In 1 condition |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Not recorded | In 1 condition |
| CLTCclathrin heavy chain | Not recorded | In 1 condition |
| FOXG1forkhead box G1 | Not recorded | In 1 condition |
| GLIS3GLIS family zinc finger 3 | Not recorded | In 1 condition |
| IGF1Rinsulin like growth factor 1 receptor | Not recorded | In 1 condition |
| KAT6Blysine acetyltransferase 6B | Not recorded | In 1 condition |
| KIF11kinesin family member 11 | Not recorded | In 1 condition |
| LMBRD1LMBR1 domain containing 1 | Not recorded | In 1 condition |
| MBD5methyl-CpG binding domain protein 5 | Not recorded | In 1 condition |
| MED13mediator complex subunit 13 | Not recorded | In 1 condition |
| MID1midline 1 | Not recorded | In 1 condition |
| MTORmechanistic target of rapamycin kinase | Not recorded | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Not recorded | In 1 condition |
| NALCNsodium leak channel, non-selective | Not recorded | In 1 condition |
| NFIAnuclear factor I A | Not recorded | In 1 condition |
| PBX1PBX homeobox 1 | Not recorded | In 1 condition |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Not recorded | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Not recorded | In 1 condition |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Not recorded | In 1 condition |
| PQBP1polyglutamine binding protein 1 | Not recorded | In 1 condition |
| RALARAS like proto-oncogene A | Not recorded | In 1 condition |
| SLC25A24solute carrier family 25 member 24 | Not recorded | In 1 condition |
| STAG2STAG2 cohesin complex component | Not recorded | In 1 condition |
| TCF20transcription factor 20 | Not recorded | In 1 condition |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Not recorded | In 1 condition |
| TRRAPtransformation/transcription domain associated protein | Not recorded | In 1 condition |
| UNC80unc-80 subunit of NALCN channel complex | Not recorded | In 1 condition |
| WNT5AWnt family member 5A | Not recorded | In 1 condition |
| ZBTB18zinc finger and BTB domain containing 18 | 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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