Trait
Ears rotated toward back of head
Clinical name: Posteriorly rotated ears
A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front).
Summary
- Also called
- Ear, posterior angulation, increased, Posteriorly angulated ears, Posteriorly rotated, Posteriorly rotated auricles, Posteriorly-angulated ears, Posteriorly-rotated ears
- Body system
- Abnormality of the ear
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Ears rotated toward back of head, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome Test494 genes linked to Ears rotated toward back of head
Changes in these genes cause rare conditions in which Ears rotated toward back of head 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 |
|---|---|---|
| ACANaggrecan | Always | In 2 conditions |
| ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 18 | Always | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Always | In 2 conditions |
| ALX1ALX homeobox 1 | Always | In 2 conditions |
| ANKHANKH inorganic pyrophosphate transport regulator | Always | In 1 condition |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Always | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Always | In 5 conditions |
| BRD4bromodomain containing 4 | Always | In 2 conditions |
| CBLCbl proto-oncogene | Always | In 2 conditions |
| CCNKcyclin K | Always | In 1 condition |
| CDK10cyclin dependent kinase 10 | Always | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Always | In 1 condition |
| CIROZciliated left-right organizer protein containing ZP-N domains | Always | In 1 condition |
| COG1component of oligomeric golgi complex 1 | Always | In 2 conditions |
| DHCR77-dehydrocholesterol reductase | Always | In 2 conditions |
| DHRS3dehydrogenase/reductase 3 | Always | In 1 condition |
| DMRT2doublesex and mab-3 related transcription factor 2 | Always | In 1 condition |
| DNM1Ldynamin 1L | Always | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Always | In 1 condition |
| ECE1endothelin converting enzyme 1 | Always | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Always | In 1 condition |
| ERI1exoribonuclease 1 | Always | In 2 conditions |
| ESAMendothelial cell adhesion molecule | Always | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Always | In 2 conditions |
| FLNAfilamin A | Always | In 2 conditions |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Always | In 1 condition |
| GINS3GINS complex subunit 3 | Always | In 1 condition |
| HOXB1homeobox B1 | Always | In 1 condition |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Always | In 1 condition |
| IFT140intraflagellar transport 140 | Always | In 1 condition |
| IL6STinterleukin 6 cytokine family signal transducer | Always | In 1 condition |
| KDM2Blysine demethylase 2B | Always | In 1 condition |
| KIAA0753KIAA0753 | Always | In 3 conditions |
| LZTR1leucine zipper like post translational regulator 1 | Always | In 2 conditions |
| MAD1L1mitotic arrest deficient 1 like 1 | Always | In 1 condition |
| MAP1Bmicrotubule associated protein 1B | Always | In 1 condition |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Always | In 1 condition |
| MRASmuscle RAS oncogene homolog | Always | In 2 conditions |
| MRPS14mitochondrial ribosomal protein S14 | Always | In 1 condition |
| MRPS28mitochondrial ribosomal protein S28 | Always | In 1 condition |
Show 454 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| NF1neurofibromin 1 | Always | In 3 conditions |
| NRASNRAS proto-oncogene, GTPase | Always | In 2 conditions |
| NSD1nuclear receptor binding SET domain protein 1 | Always | In 2 conditions |
| NUP88nucleoporin 88 | Always | In 2 conditions |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Always | In 1 condition |
| PAX3paired box 3 | Always | In 1 condition |
| PEX26peroxisomal biogenesis factor 26 | Always | In 2 conditions |
| PEX3peroxisomal biogenesis factor 3 | Always | In 2 conditions |
| POC1APOC1 centriolar protein A | Always | In 1 condition |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Always | In 2 conditions |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Always | In 3 conditions |
| PYCR1pyrroline-5-carboxylate reductase 1 | Always | In 1 condition |
| SATB2SATB homeobox 2 | Always | In 1 condition |
| SIAH1siah E3 ubiquitin protein ligase 1 | Always | In 1 condition |
| SOD1superoxide dismutase 1 | Always | In 1 condition |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Always | In 2 conditions |
| SOX11SRY-box transcription factor 11 | Always | In 1 condition |
| SPRED2sprouty related EVH1 domain containing 2 | Always | In 2 conditions |
| TAF4TATA-box binding protein associated factor 4 | Always | In 1 condition |
| TBX15T-box transcription factor 15 | Always | In 1 condition |
| TM2D3TM2 domain containing 3 | Always | In 1 condition |
| UBAP2Lubiquitin associated protein 2 like | Always | In 1 condition |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Always | In 1 condition |
| ZC4H2zinc finger C4H2-type containing | Always | In 1 condition |
| ZSCAN10zinc finger and SCAN domain containing 10 | Always | In 1 condition |
| ARID2AT-rich interaction domain 2 | Very often (80–99%) | In 1 condition |
| B3GALT6beta-1,3-galactosyltransferase 6 | Very often (80–99%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Very often (80–99%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Very often (80–99%) | In 1 condition |
| CAMKMTcalmodulin-lysine N-methyltransferase | Very often (80–99%) | In 1 condition |
| CD96CD96 molecule | Very often (80–99%) | In 2 conditions |
| CHST14carbohydrate sulfotransferase 14 | Very often (80–99%) | In 2 conditions |
| CLIP2CAP-Gly domain containing linker protein 2 | Very often (80–99%) | In 1 condition |
| CPLX1complexin 1 | Very often (80–99%) | In 1 condition |
| CTBP1C-terminal binding protein 1 | Very often (80–99%) | In 1 condition |
| CTNND2catenin delta 2 | Very often (80–99%) | In 1 condition |
| DHODHdihydroorotate dehydrogenase (quinone) | 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 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Very often (80–99%) | In 1 condition |
| ELNelastin | Very often (80–99%) | In 1 condition |
| ERMARDER membrane associated RNA degradation | Very often (80–99%) | In 1 condition |
| EXT1exostosin glycosyltransferase 1 | Very often (80–99%) | In 1 condition |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Very often (80–99%) | In 1 condition |
| FAM20CFAM20C golgi associated secretory pathway kinase | Very often (80–99%) | In 2 conditions |
| FBN1fibrillin 1 | Very often (80–99%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Very often (80–99%) | In 2 conditions |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Very often (80–99%) | In 1 condition |
| GPC6glypican 6 | Very often (80–99%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Very often (80–99%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Very often (80–99%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Very often (80–99%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Very often (80–99%) | In 4 conditions |
| KAT6Blysine acetyltransferase 6B | Very often (80–99%) | In 2 conditions |
| KRASKRas proto-oncogene, GTPase | Very often (80–99%) | In 5 conditions |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Very often (80–99%) | In 1 condition |
| LIMK1LIM domain kinase 1 | Very often (80–99%) | In 1 condition |
| LRP2LDL receptor related protein 2 | Very often (80–99%) | In 2 conditions |
| MAP2K2mitogen-activated protein kinase kinase 2 | Very often (80–99%) | In 3 conditions |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Very often (80–99%) | In 1 condition |
| MAPK1mitogen-activated protein kinase 1 | Very often (80–99%) | In 1 condition |
| METTL27methyltransferase like 27 | Very often (80–99%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Very often (80–99%) | In 1 condition |
| NELFAnegative elongation factor complex member A | Very often (80–99%) | In 1 condition |
| NOTCH3notch receptor 3 | Very often (80–99%) | In 2 conditions |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Very often (80–99%) | In 1 condition |
| NSD2nuclear receptor binding SET domain protein 2 | Very often (80–99%) | In 1 condition |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Very often (80–99%) | In 2 conditions |
| OTX2orthodenticle homeobox 2 | Very often (80–99%) | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Very often (80–99%) | In 2 conditions |
| PEX10peroxisomal biogenesis factor 10 | Very often (80–99%) | In 1 condition |
| PEX11Bperoxisomal biogenesis factor 11 beta | Very often (80–99%) | In 1 condition |
| PEX12peroxisomal biogenesis factor 12 | Very often (80–99%) | In 1 condition |
| PEX13peroxisomal biogenesis factor 13 | Very often (80–99%) | In 1 condition |
| PEX14peroxisomal biogenesis factor 14 | Very often (80–99%) | In 1 condition |
| PEX16peroxisomal biogenesis factor 16 | Very often (80–99%) | In 1 condition |
| PEX19peroxisomal biogenesis factor 19 | Very often (80–99%) | In 1 condition |
| PEX2peroxisomal biogenesis factor 2 | Very often (80–99%) | In 1 condition |
| PEX5peroxisomal biogenesis factor 5 | Very often (80–99%) | In 1 condition |
| PEX6peroxisomal biogenesis factor 6 | Very often (80–99%) | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Very often (80–99%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Very often (80–99%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Very often (80–99%) | In 2 conditions |
| POLR3ARNA polymerase III subunit A | Very often (80–99%) | In 2 conditions |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Very often (80–99%) | In 1 condition |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Very often (80–99%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Very often (80–99%) | In 2 conditions |
| PREPLprolyl endopeptidase like | Very often (80–99%) | In 1 condition |
| PRRX1paired related homeobox 1 | Very often (80–99%) | In 1 condition |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Very often (80–99%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Very often (80–99%) | In 2 conditions |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Very often (80–99%) | In 2 conditions |
| RASA2RAS p21 protein activator 2 | Very often (80–99%) | In 1 condition |
| RFC2replication factor C subunit 2 | Very often (80–99%) | In 1 condition |
| RIT1Ras like without CAAX 1 | Very often (80–99%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 1 condition |
| RRASRAS related | Very often (80–99%) | In 1 condition |
| RRAS2RAS related 2 | Very often (80–99%) | In 1 condition |
| SEMA5Asemaphorin 5A | Very often (80–99%) | In 1 condition |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Very often (80–99%) | In 2 conditions |
| SKISKI proto-oncogene | Very often (80–99%) | In 3 conditions |
| SLC25A24solute carrier family 25 member 24 | Very often (80–99%) | In 2 conditions |
| SLC3A1solute carrier family 3 member 1 | Very often (80–99%) | In 1 condition |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Very often (80–99%) | In 1 condition |
| STX1Asyntaxin 1A | Very often (80–99%) | In 1 condition |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Very often (80–99%) | In 1 condition |
| TBCEtubulin folding cofactor E | Very often (80–99%) | In 2 conditions |
| TBL2transducin beta like 2 | Very often (80–99%) | In 1 condition |
| TBR1T-box brain transcription factor 1 | Very often (80–99%) | In 1 condition |
| TCTN3tectonic family member 3 | Very often (80–99%) | In 3 conditions |
| TFAP2Atranscription factor AP-2 alpha | Very often (80–99%) | In 2 conditions |
| TMCO1transmembrane and coiled-coil domains 1 | Very often (80–99%) | In 2 conditions |
| TMEM270transmembrane protein 270 | Very often (80–99%) | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Very often (80–99%) | In 1 condition |
| VPS37DVPS37D subunit of ESCRT-I | Very often (80–99%) | In 1 condition |
| ALX3ALX homeobox 3 | Often (30–79%) | In 1 condition |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Often (30–79%) | In 1 condition |
| ARID1BAT-rich interaction domain 1B | Often (30–79%) | In 2 conditions |
| ASXL1ASXL transcriptional regulator 1 | Often (30–79%) | In 2 conditions |
| ASXL2ASXL transcriptional regulator 2 | Often (30–79%) | In 1 condition |
| ATXN7L3ataxin 7 like 3 | Often (30–79%) | In 1 condition |
| B9D1B9 domain containing 1 | Often (30–79%) | In 1 condition |
| B9D2B9 domain containing 2 | Often (30–79%) | In 1 condition |
| BCORBCL6 corepressor | Often (30–79%) | In 2 conditions |
| BMP2bone morphogenetic protein 2 | Often (30–79%) | In 1 condition |
| BRPF1bromodomain and PHD finger containing 1 | Often (30–79%) | In 1 condition |
| C1GALT1C1C1GALT1 specific chaperone 1 | Often (30–79%) | In 1 condition |
| C2CD3C2 domain containing 3 centriole elongation regulator | Often (30–79%) | In 2 conditions |
| CACHD1cache domain containing 1 | Often (30–79%) | In 1 condition |
| CAMTA1calmodulin binding transcription activator 1 | Often (30–79%) | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Often (30–79%) | In 1 condition |
| CASP2caspase 2 | Often (30–79%) | In 1 condition |
| CASZ1castor zinc finger 1 | Often (30–79%) | In 1 condition |
| CC2D2Acoiled-coil and C2 domain containing 2A | Often (30–79%) | In 2 conditions |
| CDC45cell division cycle 45 | Often (30–79%) | In 1 condition |
| CDC6cell division cycle 6 | Often (30–79%) | In 1 condition |
| CDH2cadherin 2 | Often (30–79%) | In 1 condition |
| CDT1chromatin licensing and DNA replication factor 1 | Often (30–79%) | In 1 condition |
| CEP290centrosomal protein 290 | Often (30–79%) | In 3 conditions |
| CHD7chromodomain helicase DNA binding protein 7 | Often (30–79%) | In 1 condition |
| COG5component of oligomeric golgi complex 5 | Often (30–79%) | In 1 condition |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Often (30–79%) | In 2 conditions |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Often (30–79%) | In 1 condition |
| CSPP1centrosome and spindle pole associated protein 1 | Often (30–79%) | In 2 conditions |
| DDR2discoidin domain receptor tyrosine kinase 2 | Often (30–79%) | In 1 condition |
| DHCR2424-dehydrocholesterol reductase | Often (30–79%) | In 2 conditions |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Often (30–79%) | In 1 condition |
| DOK7docking protein 7 | Often (30–79%) | In 1 condition |
| DPF2double PHD fingers 2 | Often (30–79%) | In 1 condition |
| DRG1developmentally regulated GTP binding protein 1 | Often (30–79%) | In 1 condition |
| DVL1dishevelled segment polarity protein 1 | Often (30–79%) | In 2 conditions |
| EBF3EBF transcription factor 3 | Often (30–79%) | In 1 condition |
| EDN1endothelin 1 | Often (30–79%) | In 1 condition |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Often (30–79%) | In 1 condition |
| EP300EP300 lysine acetyltransferase | Often (30–79%) | In 1 condition |
| EXOSC2exosome component 2 | Often (30–79%) | In 1 condition |
| FAM149B1family with sequence similarity 149 member B1 | Often (30–79%) | In 1 condition |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Often (30–79%) | In 1 condition |
| FEM1Bfem-1 homolog B | Often (30–79%) | In 1 condition |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Often (30–79%) | In 1 condition |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Often (30–79%) | In 1 condition |
| FRAS1Fraser extracellular matrix complex subunit 1 | Often (30–79%) | In 1 condition |
| FREM1FRAS1 related extracellular matrix 1 | Often (30–79%) | In 1 condition |
| FREM2FRAS1 related extracellular matrix 2 | Often (30–79%) | In 1 condition |
| FRMD4AFERM domain containing 4A | Often (30–79%) | In 2 conditions |
| FZD2frizzled class receptor 2 | Often (30–79%) | In 2 conditions |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Often (30–79%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Often (30–79%) | In 1 condition |
| GLDNgliomedin | Often (30–79%) | In 1 condition |
| GLE1GLE1 RNA export mediator | Often (30–79%) | In 1 condition |
| GLI3GLI family zinc finger 3 | Often (30–79%) | In 2 conditions |
| GMNNgeminin DNA replication inhibitor | Often (30–79%) | In 2 conditions |
| GNAI3G protein subunit alpha i3 | Often (30–79%) | In 2 conditions |
| GPC3glypican 3 | Often (30–79%) | In 1 condition |
| GPC4glypican 4 | Often (30–79%) | In 1 condition |
| GPT2glutamic--pyruvic transaminase 2 | Often (30–79%) | In 1 condition |
| GRIP1glutamate receptor interacting protein 1 | Often (30–79%) | In 1 condition |
| H4C9H4 clustered histone 9 | Often (30–79%) | In 1 condition |
| HBA1hemoglobin subunit alpha 1 | Often (30–79%) | In 1 condition |
| HBA2hemoglobin subunit alpha 2 | Often (30–79%) | In 1 condition |
| HDAC8histone deacetylase 8 | Often (30–79%) | In 1 condition |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Often (30–79%) | In 2 conditions |
| 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 |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Often (30–79%) | In 1 condition |
| KAT6Alysine acetyltransferase 6A | Often (30–79%) | In 2 conditions |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Often (30–79%) | In 1 condition |
| KIF21Akinesin family member 21A | Often (30–79%) | In 1 condition |
| KIF7kinesin family member 7 | Often (30–79%) | In 3 conditions |
| LUZP1leucine zipper protein 1 | Often (30–79%) | In 1 condition |
| MAFMAF bZIP transcription factor | Often (30–79%) | In 2 conditions |
| MAGEL2MAGE family member L2 | Often (30–79%) | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Often (30–79%) | In 2 conditions |
| MAPRE2microtubule associated protein RP/EB family member 2 | Often (30–79%) | In 2 conditions |
| MAU2MAU2 sister chromatid cohesion factor | Often (30–79%) | In 2 conditions |
| MED12mediator complex subunit 12 | Often (30–79%) | In 1 condition |
| MEGF8multiple EGF like domains 8 | Often (30–79%) | In 1 condition |
| MESDmesoderm development LRP chaperone | Often (30–79%) | In 1 condition |
| MITFmelanocyte inducing transcription factor | Often (30–79%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Often (30–79%) | In 3 conditions |
| MMP23Bmatrix metallopeptidase 23B | Often (30–79%) | In 1 condition |
| MN1MN1 proto-oncogene, transcriptional regulator | Often (30–79%) | In 1 condition |
| MUSKmuscle associated receptor tyrosine kinase | Often (30–79%) | In 2 conditions |
| MVKmevalonate kinase | Often (30–79%) | In 2 conditions |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Often (30–79%) | In 2 conditions |
| MYH3myosin heavy chain 3 | Often (30–79%) | In 1 condition |
| MYMXmyomixer, myoblast fusion factor | Often (30–79%) | In 1 condition |
| MYOD1myogenic differentiation 1 | Often (30–79%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Often (30–79%) | In 1 condition |
| NIPBLNIPBL cohesin loading factor | Often (30–79%) | In 1 condition |
| NPHP1nephrocystin 1 | Often (30–79%) | In 2 conditions |
| NXNnucleoredoxin | Often (30–79%) | In 2 conditions |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Often (30–79%) | In 1 condition |
| OFD1OFD1 centriole and centriolar satellite protein | Often (30–79%) | In 1 condition |
| ORC1origin recognition complex subunit 1 | Often (30–79%) | In 1 condition |
| ORC4origin recognition complex subunit 4 | Often (30–79%) | In 1 condition |
| ORC6origin recognition complex subunit 6 | Often (30–79%) | In 2 conditions |
| OTUD5OTU deubiquitinase 5 | Often (30–79%) | In 1 condition |
| PDE6Dphosphodiesterase 6D | Often (30–79%) | In 1 condition |
| PDPNpodoplanin | 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 |
| PLAAphospholipase A2 activating protein | Often (30–79%) | In 2 conditions |
| PLCB4phospholipase C beta 4 | Often (30–79%) | In 2 conditions |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 2 conditions |
| POLR1BRNA polymerase I subunit B | Often (30–79%) | In 1 condition |
| POLR1CRNA polymerase I and III subunit C | Often (30–79%) | In 1 condition |
| POLR1DRNA polymerase I and III subunit D | Often (30–79%) | In 1 condition |
| PRDM16PR/SET domain 16 | Often (30–79%) | In 1 condition |
| PRKCZprotein kinase C zeta | Often (30–79%) | In 1 condition |
| PUF60poly(U) binding splicing factor 60 | Often (30–79%) | In 1 condition |
| QARS1glutaminyl-tRNA synthetase 1 | Often (30–79%) | In 1 condition |
| RAB18RAB18, member RAS oncogene family | Often (30–79%) | In 1 condition |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Often (30–79%) | In 2 conditions |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Often (30–79%) | In 3 conditions |
| RAP1BRAP1B, member of RAS oncogene family | Often (30–79%) | In 1 condition |
| RAPSNreceptor associated protein of the synapse | Often (30–79%) | In 1 condition |
| RBM8ARNA binding motif protein 8A | Often (30–79%) | In 1 condition |
| RBSNrabenosyn, RAB effector | Often (30–79%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Often (30–79%) | In 3 conditions |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Often (30–79%) | In 1 condition |
| ROR2ROR family WNT receptor 2 | Often (30–79%) | In 2 conditions |
| RPGRIP1RPGR interacting protein 1 | Often (30–79%) | In 1 condition |
| RPGRIP1LRPGRIP1 like | Often (30–79%) | In 2 conditions |
| RPS28ribosomal protein S28 | Often (30–79%) | In 1 condition |
| RUSC2RUN and SH3 domain containing 2 | Often (30–79%) | In 1 condition |
| SCARF2scavenger receptor class F member 2 | Often (30–79%) | In 1 condition |
| SEMA3Esemaphorin 3E | Often (30–79%) | In 1 condition |
| SETD5SET domain containing 5 | Often (30–79%) | In 1 condition |
| SIX2SIX homeobox 2 | Often (30–79%) | In 1 condition |
| SLC18A3solute carrier family 18 member A3 | Often (30–79%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Often (30–79%) | In 1 condition |
| SLC4A10solute carrier family 4 member 10 | 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 2 conditions |
| SMC1Astructural maintenance of chromosomes 1A | Often (30–79%) | In 2 conditions |
| SMC3structural maintenance of chromosomes 3 | Often (30–79%) | In 2 conditions |
| SMG9SMG9 nonsense mediated mRNA decay factor | Often (30–79%) | In 1 condition |
| SMOC1SPARC related modular calcium binding 1 | Often (30–79%) | In 2 conditions |
| SOX4SRY-box transcription factor 4 | Often (30–79%) | In 1 condition |
| SPENspen family transcriptional repressor | Often (30–79%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Often (30–79%) | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Often (30–79%) | In 2 conditions |
| TCOF1treacle ribosome biogenesis factor 1 | Often (30–79%) | In 1 condition |
| TCTN1tectonic family member 1 | Often (30–79%) | In 1 condition |
| TCTN2tectonic family member 2 | Often (30–79%) | In 1 condition |
| TFE3transcription factor binding to IGHM enhancer 3 | Often (30–79%) | In 1 condition |
| TGDSTDP-glucose 4,6-dehydratase | Often (30–79%) | In 1 condition |
| TMEM107transmembrane protein 107 | Often (30–79%) | In 1 condition |
| TMEM138transmembrane protein 138 | Often (30–79%) | In 1 condition |
| TMEM216transmembrane protein 216 | Often (30–79%) | In 3 conditions |
| TMEM231transmembrane protein 231 | Often (30–79%) | In 3 conditions |
| TMEM237transmembrane protein 237 | Often (30–79%) | In 4 conditions |
| TMEM67transmembrane protein 67 | Often (30–79%) | In 1 condition |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Often (30–79%) | In 1 condition |
| TUBA1Atubulin alpha 1a | Often (30–79%) | In 1 condition |
| TUBBtubulin beta class I | Often (30–79%) | In 2 conditions |
| TXNDC15thioredoxin domain containing 15 | Often (30–79%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Often (30–79%) | In 1 condition |
| UMPSuridine monophosphate synthetase | Often (30–79%) | In 1 condition |
| WNT5AWnt family member 5A | Often (30–79%) | In 2 conditions |
| XYLT1xylosyltransferase 1 | Often (30–79%) | In 1 condition |
| XYLT2xylosyltransferase 2 | Often (30–79%) | In 1 condition |
| YY1YY1 transcription factor | Often (30–79%) | In 2 conditions |
| ZEB2zinc finger E-box binding homeobox 2 | Often (30–79%) | In 2 conditions |
| ZNF423zinc finger protein 423 | Often (30–79%) | In 1 condition |
| ACTBactin beta | Sometimes (5–29%) | In 1 condition |
| ACTG2actin gamma 2, smooth muscle | Sometimes (5–29%) | In 1 condition |
| ADNPactivity dependent neuroprotector homeobox | Sometimes (5–29%) | In 1 condition |
| AFF4ALF transcription elongation factor 4 | Sometimes (5–29%) | In 1 condition |
| AHI1Abelson helper integration site 1 | Sometimes (5–29%) | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Sometimes (5–29%) | In 2 conditions |
| ANKRD11ankyrin repeat domain 11 | Sometimes (5–29%) | In 1 condition |
| ARL6ARF like GTPase 6 | Sometimes (5–29%) | In 1 condition |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Sometimes (5–29%) | In 1 condition |
| ASXL3ASXL transcriptional regulator 3 | Sometimes (5–29%) | In 1 condition |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Sometimes (5–29%) | In 2 conditions |
| B4GAT1beta-1,4-glucuronyltransferase 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 |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Sometimes (5–29%) | In 1 condition |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Sometimes (5–29%) | In 1 condition |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Sometimes (5–29%) | In 2 conditions |
| BUB3BUB3 mitotic checkpoint protein | Sometimes (5–29%) | In 1 condition |
| CDC42cell division cycle 42 | Sometimes (5–29%) | In 2 conditions |
| CDK13cyclin dependent kinase 13 | Sometimes (5–29%) | In 1 condition |
| CEP120centrosomal protein 120 | Sometimes (5–29%) | In 1 condition |
| CEP19centrosomal protein 19 | Sometimes (5–29%) | In 1 condition |
| CEP41centrosomal protein 41 | Sometimes (5–29%) | In 1 condition |
| CEP57centrosomal protein 57 | Sometimes (5–29%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Sometimes (5–29%) | In 1 condition |
| CHD5chromodomain helicase DNA binding protein 5 | Sometimes (5–29%) | In 1 condition |
| CHMP1Acharged multivesicular body protein 1A | Sometimes (5–29%) | In 1 condition |
| CLCN3Cl-/H+ antiporter 3 | Sometimes (5–29%) | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL4A1collagen type IV alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Sometimes (5–29%) | In 1 condition |
| CRELD1CRELD disulfide isomerase 1 | Sometimes (5–29%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Sometimes (5–29%) | In 1 condition |
| CTCFCCCTC-binding factor | Sometimes (5–29%) | In 2 conditions |
| CTNNB1catenin beta 1 | Sometimes (5–29%) | In 1 condition |
| DAG1dystroglycan 1 | Sometimes (5–29%) | In 1 condition |
| DHX16DEAH-box helicase 16 | Sometimes (5–29%) | In 1 condition |
| DHX30DExH-box helicase 30 | Sometimes (5–29%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 2 conditions |
| DLL3delta like canonical Notch ligand 3 | Sometimes (5–29%) | In 1 condition |
| DVL3dishevelled segment polarity protein 3 | Sometimes (5–29%) | In 1 condition |
| FKRPfukutin related protein | Sometimes (5–29%) | In 1 condition |
| FKTNfukutin | Sometimes (5–29%) | In 1 condition |
| FN1fibronectin 1 | Sometimes (5–29%) | In 1 condition |
| FOXE1forkhead box E1 | Sometimes (5–29%) | In 1 condition |
| FRA10AC1FRA10A associated CGG repeat 1 | Sometimes (5–29%) | In 1 condition |
| FRYLFRY like transcription coactivator | Sometimes (5–29%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Sometimes (5–29%) | In 1 condition |
| GNB1G protein subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| GPRASP2G protein-coupled receptor associated sorting protein 2 | Sometimes (5–29%) | In 1 condition |
| H3-3AH3.3 histone A | Sometimes (5–29%) | In 1 condition |
| HES7hes family bHLH transcription factor 7 | Sometimes (5–29%) | In 1 condition |
| HOXD13homeobox D13 | Sometimes (5–29%) | In 1 condition |
| HRASHRas proto-oncogene, GTPase | Sometimes (5–29%) | In 2 conditions |
| 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 |
| INPP5Einositol polyphosphate-5-phosphatase E | Sometimes (5–29%) | In 1 condition |
| INPPL1inositol polyphosphate phosphatase like 1 | Sometimes (5–29%) | In 1 condition |
| IPO8importin 8 | Sometimes (5–29%) | In 1 condition |
| ITCHitchy E3 ubiquitin protein ligase | Sometimes (5–29%) | In 2 conditions |
| KCTD1potassium channel tetramerization domain containing 1 | Sometimes (5–29%) | In 1 condition |
| KDM4Blysine demethylase 4B | Sometimes (5–29%) | In 1 condition |
| KDM6Alysine demethylase 6A | Sometimes (5–29%) | In 1 condition |
| KIAA0586KIAA0586 | Sometimes (5–29%) | In 1 condition |
| KMT2Blysine methyltransferase 2B | Sometimes (5–29%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Sometimes (5–29%) | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Sometimes (5–29%) | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Sometimes (5–29%) | In 1 condition |
| MARK2microtubule affinity regulating kinase 2 | Sometimes (5–29%) | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sometimes (5–29%) | In 1 condition |
| MED16mediator complex subunit 16 | Sometimes (5–29%) | In 1 condition |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 2 conditions |
| MESP2mesoderm posterior bHLH transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Sometimes (5–29%) | In 2 conditions |
| MID1midline 1 | Sometimes (5–29%) | In 2 conditions |
| MKKSMKKS centrosomal shuttling protein | Sometimes (5–29%) | In 1 condition |
| MSL2MSL complex subunit 2 | Sometimes (5–29%) | In 1 condition |
| NAA20N-alpha-acetyltransferase 20, NatB catalytic subunit | Sometimes (5–29%) | In 1 condition |
| NFIXnuclear factor I X | Sometimes (5–29%) | In 1 condition |
| NRCAMneuronal cell adhesion molecule | Sometimes (5–29%) | In 1 condition |
| NSRP1nuclear speckle splicing regulatory protein 1 | Sometimes (5–29%) | In 1 condition |
| PAX7paired box 7 | Sometimes (5–29%) | In 1 condition |
| PDE4Dphosphodiesterase 4D | Sometimes (5–29%) | In 1 condition |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Sometimes (5–29%) | In 1 condition |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Sometimes (5–29%) | In 1 condition |
| PNPLA6patatin like domain 6, lysophospholipase | Sometimes (5–29%) | In 1 condition |
| POLEDNA polymerase epsilon, catalytic subunit | Sometimes (5–29%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sometimes (5–29%) | In 1 condition |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Sometimes (5–29%) | In 1 condition |
| POMKprotein O-mannose kinase | Sometimes (5–29%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Sometimes (5–29%) | In 1 condition |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Sometimes (5–29%) | In 1 condition |
| RAI1retinoic acid induced 1 | Sometimes (5–29%) | In 1 condition |
| RBM10RNA binding motif protein 10 | Sometimes (5–29%) | In 2 conditions |
| RFX7regulatory factor X7 | Sometimes (5–29%) | In 1 condition |
| RIPPLY2ripply transcriptional repressor 2 | Sometimes (5–29%) | In 1 condition |
| RPS26ribosomal protein S26 | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 2 conditions |
| RTTNrotatin | Sometimes (5–29%) | In 1 condition |
| RXYLT1ribitol xylosyltransferase 1 | Sometimes (5–29%) | In 1 condition |
| SATB1SATB homeobox 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 |
| SETSET nuclear proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SF3B4splicing factor 3b subunit 4 | Sometimes (5–29%) | In 2 conditions |
| SMARCD2SWI/SNF related BAF chromatin remodeling complex subunit D2 | Sometimes (5–29%) | In 1 condition |
| SMG8SMG8 nonsense mediated mRNA decay factor | Sometimes (5–29%) | In 1 condition |
| SMPD4sphingomyelin phosphodiesterase 4 | Sometimes (5–29%) | In 1 condition |
| SPOPspeckle type BTB/POZ protein | Sometimes (5–29%) | In 1 condition |
| SRRM2serine/arginine repetitive matrix 2 | Sometimes (5–29%) | In 1 condition |
| SRYsex determining region Y | Sometimes (5–29%) | In 1 condition |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Sometimes (5–29%) | In 1 condition |
| TBX6T-box transcription factor 6 | Sometimes (5–29%) | In 1 condition |
| TMEM94transmembrane protein 94 | Sometimes (5–29%) | In 1 condition |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Sometimes (5–29%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Sometimes (5–29%) | In 1 condition |
| TRIP13thyroid hormone receptor interactor 13 | Sometimes (5–29%) | In 1 condition |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Sometimes (5–29%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Sometimes (5–29%) | In 1 condition |
| USP9Xubiquitin specific peptidase 9 X-linked | Sometimes (5–29%) | In 2 conditions |
| WACWW domain containing adaptor with coiled-coil | Sometimes (5–29%) | In 3 conditions |
| WDPCPWD repeat containing planar cell polarity effector | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ZMYM2zinc finger MYM-type containing 2 | Sometimes (5–29%) | In 1 condition |
| ZNF148zinc finger protein 148 | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Rarely (1–4%) | In 1 condition |
| ATN1atrophin 1 | Not recorded | In 1 condition |
| ATRXATRX chromatin remodeler | Not recorded | In 2 conditions |
| BCL11BBCL11 transcription factor B | Not recorded | In 1 condition |
| BLTP1bridge-like lipid transfer protein family member 1 | Not recorded | In 1 condition |
| BMP4bone morphogenetic protein 4 | Not recorded | In 1 condition |
| CDH11cadherin 11 | Not recorded | In 1 condition |
| CPT2carnitine palmitoyltransferase 2 | Not recorded | In 1 condition |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Not recorded | In 1 condition |
| FBXO11F-box protein 11 | Not recorded | In 1 condition |
| FHL1four and a half LIM domains 1 | Not recorded | In 1 condition |
| GPX4glutathione peroxidase 4 | Not recorded | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Not recorded | In 1 condition |
| MAB21L1mab-21 like 1 | Not recorded | In 1 condition |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Not recorded | In 1 condition |
| MRPS22mitochondrial ribosomal protein S22 | Not recorded | In 1 condition |
| PHOX2Bpaired like homeobox 2B | Not recorded | In 1 condition |
| RALARAS like proto-oncogene A | Not recorded | In 1 condition |
| RECQL4RecQ like helicase 4 | Not recorded | In 1 condition |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Not recorded | In 1 condition |
| SOX5SRY-box transcription factor 5 | Not recorded | In 1 condition |
| SPRED1sprouty related EVH1 domain containing 1 | Not recorded | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Not recorded | In 1 condition |
| TAPT1transmembrane anterior posterior transformation 1 | Not recorded | In 1 condition |
| TCF20transcription factor 20 | Not recorded | In 1 condition |
| TLK2tousled like kinase 2 | Not recorded | In 1 condition |
| TMEM165transmembrane protein 165 | 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 |
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