Trait
Large ears
Clinical name: Macrotia
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Summary
- Also called
- Large pinnae
- Body system
- Abnormality of the ear
Reference genomeGRCh38hg38
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Changes in these genes cause rare conditions in which Large ears 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 |
|---|---|---|
| AGO1argonaute RISC component 1 | Always | In 1 condition |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Always | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Always | In 1 condition |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Always | In 1 condition |
| CITcitron rho-interacting serine/threonine kinase | Always | In 1 condition |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Always | In 1 condition |
| DENND5ADENN domain containing 5A | Always | In 1 condition |
| EEDembryonic ectoderm development | Always | In 1 condition |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | 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 |
| ERI1exoribonuclease 1 | Always | In 1 condition |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Always | In 2 conditions |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Always | In 2 conditions |
| IKZF2IKAROS family zinc finger 2 | Always | In 1 condition |
| KDM5Clysine demethylase 5C | Always | In 1 condition |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| MAN1B1mannosidase alpha class 1B member 1 | Always | In 2 conditions |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Always | In 1 condition |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Always | In 1 condition |
| NALCNsodium leak channel, non-selective | Always | In 2 conditions |
| NBNnibrin | Always | In 2 conditions |
| NEXMIFneurite extension and migration factor | Always | In 1 condition |
| NSD1nuclear receptor binding SET domain protein 1 | Always | In 2 conditions |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Always | In 1 condition |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Always | In 1 condition |
| PTDSS1phosphatidylserine synthase 1 | Always | In 2 conditions |
| QRICH1glutamine rich 1 | Always | In 1 condition |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Always | In 3 conditions |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Always | In 2 conditions |
| RBMXRNA binding motif protein X-linked | Always | In 3 conditions |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| SLC6A17solute carrier family 6 member 17 | Always | In 2 conditions |
| SUOXsulfite oxidase | Always | In 1 condition |
| TAF4TATA-box binding protein associated factor 4 | Always | In 1 condition |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Always | In 1 condition |
| TBC1D23TBC1 domain family member 23 | Always | In 1 condition |
| TOP2BDNA topoisomerase II beta | Always | In 1 condition |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| ZNF668zinc finger protein 668 | Always | In 1 condition |
Show 240 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| AIPAHR interacting HSP90 co-chaperone | Very often (80–99%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Very often (80–99%) | In 1 condition |
| BRWD3bromodomain and WD repeat domain containing 3 | Very often (80–99%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Very often (80–99%) | In 1 condition |
| CHST14carbohydrate sulfotransferase 14 | Very often (80–99%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Very often (80–99%) | In 1 condition |
| CWC27CWC27 spliceosome associated cyclophilin | 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 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Very often (80–99%) | In 1 condition |
| ELNelastin | Very often (80–99%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Very often (80–99%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Very often (80–99%) | In 1 condition |
| GPR101G protein-coupled receptor 101 | 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 |
| HHAThedgehog acyltransferase | Very often (80–99%) | In 1 condition |
| KDM6Alysine demethylase 6A | Very often (80–99%) | In 3 conditions |
| KMT2Dlysine methyltransferase 2D | Very often (80–99%) | In 2 conditions |
| LIMK1LIM domain 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 |
| NDPnorrin cystine knot growth factor NDP | Very often (80–99%) | In 1 condition |
| NECTIN1nectin cell adhesion molecule 1 | Very often (80–99%) | In 1 condition |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Very often (80–99%) | In 2 conditions |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Very often (80–99%) | In 1 condition |
| RFC2replication factor C subunit 2 | Very often (80–99%) | In 1 condition |
| SLC9A6solute carrier family 9 member A6 | Very often (80–99%) | In 2 conditions |
| SSR4signal sequence receptor subunit 4 | 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 |
| TBL2transducin beta like 2 | Very often (80–99%) | In 1 condition |
| TBX22T-box transcription factor 22 | 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 2 conditions |
| VPS37DVPS37D subunit of ESCRT-I | Very often (80–99%) | In 1 condition |
| ZBTB20zinc finger and BTB domain containing 20 | Very often (80–99%) | In 2 conditions |
| ZNF526zinc finger protein 526 | Very often (80–99%) | In 1 condition |
| ZNHIT3zinc finger HIT-type containing 3 | Very often (80–99%) | In 1 condition |
| ADAMTSL1ADAMTS like 1 | Often (30–79%) | In 1 condition |
| AEBP1AE binding protein 1 | Often (30–79%) | In 2 conditions |
| AKT1AKT serine/threonine kinase 1 | Often (30–79%) | In 1 condition |
| AMOTL1angiomotin like 1 | Often (30–79%) | In 1 condition |
| ANKRD11ankyrin repeat domain 11 | Often (30–79%) | In 2 conditions |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Often (30–79%) | In 1 condition |
| BORCS8BLOC-1 related complex subunit 8 | Often (30–79%) | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Often (30–79%) | In 1 condition |
| BRD4bromodomain containing 4 | Often (30–79%) | In 2 conditions |
| CASKcalcium/calmodulin dependent serine protein kinase | Often (30–79%) | In 2 conditions |
| CENPEcentromere protein E | Often (30–79%) | In 1 condition |
| CHD8chromodomain helicase DNA binding protein 8 | Often (30–79%) | In 1 condition |
| CLIC2CLIC family member 2 | Often (30–79%) | In 1 condition |
| CPEcarboxypeptidase E | Often (30–79%) | In 1 condition |
| CTU2cytosolic thiouridylase subunit 2 | Often (30–79%) | In 1 condition |
| DDB1damage specific DNA binding protein 1 | Often (30–79%) | In 1 condition |
| DPF2double PHD fingers 2 | Often (30–79%) | In 1 condition |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Often (30–79%) | In 1 condition |
| FAR1fatty acyl-CoA reductase 1 | Often (30–79%) | In 2 conditions |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Often (30–79%) | In 1 condition |
| FMR1fragile X messenger ribonucleoprotein 1 | Often (30–79%) | In 2 conditions |
| FTSJ1FtsJ RNA 2'-O-methyltransferase 1 | Often (30–79%) | In 1 condition |
| GLI2GLI family zinc finger 2 | Often (30–79%) | In 1 condition |
| GON7GON7 subunit of KEOPS complex | Often (30–79%) | In 1 condition |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Often (30–79%) | In 1 condition |
| HDAC4histone deacetylase 4 | Often (30–79%) | In 1 condition |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Often (30–79%) | In 1 condition |
| KATNB1katanin regulatory subunit B1 | Often (30–79%) | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Often (30–79%) | In 1 condition |
| KLHL20kelch like family member 20 | Often (30–79%) | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Often (30–79%) | In 1 condition |
| LAGE3L antigen family member 3 | Often (30–79%) | In 1 condition |
| MAP2K1mitogen-activated protein kinase kinase 1 | Often (30–79%) | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Often (30–79%) | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Often (30–79%) | In 1 condition |
| MID2midline 2 | Often (30–79%) | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Often (30–79%) | In 2 conditions |
| NUP107nucleoporin 107 | Often (30–79%) | In 1 condition |
| NUP133nucleoporin 133 | Often (30–79%) | In 1 condition |
| ODC1ornithine decarboxylase 1 | Often (30–79%) | In 1 condition |
| OSGEPO-sialoglycoprotein endopeptidase | Often (30–79%) | In 1 condition |
| OTUD6BOTU deubiquitinase 6B | Often (30–79%) | In 2 conditions |
| OTUD7AOTU deubiquitinase 7A | Often (30–79%) | In 1 condition |
| PAK3p21 (RAC1) activated kinase 3 | Often (30–79%) | In 1 condition |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Often (30–79%) | In 1 condition |
| POLR1ARNA polymerase I subunit A | Often (30–79%) | In 1 condition |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Often (30–79%) | In 1 condition |
| PQBP1polyglutamine binding protein 1 | Often (30–79%) | In 3 conditions |
| PTCH1patched 1 | Often (30–79%) | In 1 condition |
| RAB18RAB18, member RAS oncogene family | Often (30–79%) | In 2 conditions |
| RPL10ribosomal protein L10 | Often (30–79%) | In 1 condition |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Often (30–79%) | In 1 condition |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Often (30–79%) | In 1 condition |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Often (30–79%) | In 1 condition |
| SLC2A10solute carrier family 2 member 10 | Often (30–79%) | In 2 conditions |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Often (30–79%) | In 1 condition |
| STEEP1STING1 ER exit protein 1 | Often (30–79%) | In 1 condition |
| TBC1D20TBC1 domain family member 20 | Often (30–79%) | In 1 condition |
| TOE1target of EGR1, exonuclease | Often (30–79%) | In 2 conditions |
| TP53RKTP53 regulating kinase | Often (30–79%) | In 1 condition |
| TPRKBTP53RK binding protein | Often (30–79%) | In 1 condition |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Often (30–79%) | In 1 condition |
| WDR73WD repeat domain 73 | Often (30–79%) | In 2 conditions |
| WSB2WD repeat and SOCS box containing 2 | Often (30–79%) | In 1 condition |
| YME1L1YME1 like 1 ATPase | Often (30–79%) | In 1 condition |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Often (30–79%) | In 1 condition |
| ZIC2Zic family zinc finger 2 | Often (30–79%) | In 1 condition |
| ZNF711ZFX family zinc finger ZNF711 | Often (30–79%) | In 1 condition |
| ADAT3adenosine deaminase tRNA specific 3 | Sometimes (5–29%) | In 1 condition |
| AHSGalpha 2-HS glycoprotein | Sometimes (5–29%) | In 1 condition |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Sometimes (5–29%) | In 1 condition |
| ARL6ARF like GTPase 6 | 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 |
| CA2carbonic anhydrase 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 |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Sometimes (5–29%) | In 1 condition |
| CLCN3Cl-/H+ antiporter 3 | Sometimes (5–29%) | In 1 condition |
| COG3component of oligomeric golgi complex 3 | Sometimes (5–29%) | In 1 condition |
| DHX30DExH-box helicase 30 | Sometimes (5–29%) | In 1 condition |
| DPYSL5dihydropyrimidinase like 5 | Sometimes (5–29%) | In 1 condition |
| EMILIN1elastin microfibril interfacer 1 | Sometimes (5–29%) | In 1 condition |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sometimes (5–29%) | In 1 condition |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Sometimes (5–29%) | In 3 conditions |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sometimes (5–29%) | In 3 conditions |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| FIBPFGF1 intracellular binding protein | Sometimes (5–29%) | In 2 conditions |
| GLB1galactosidase beta 1 | Sometimes (5–29%) | In 1 condition |
| GNB2G protein subunit beta 2 | Sometimes (5–29%) | In 1 condition |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Sometimes (5–29%) | In 1 condition |
| HDAC8histone deacetylase 8 | Sometimes (5–29%) | In 1 condition |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | 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 |
| INSRinsulin receptor | Sometimes (5–29%) | In 2 conditions |
| IPO8importin 8 | Sometimes (5–29%) | In 1 condition |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Sometimes (5–29%) | In 1 condition |
| ITGB6integrin subunit beta 6 | Sometimes (5–29%) | In 1 condition |
| KDM4Blysine demethylase 4B | Sometimes (5–29%) | In 1 condition |
| KIFBPkinesin family binding protein | Sometimes (5–29%) | In 1 condition |
| LGI1leucine rich glioma inactivated 1 | Sometimes (5–29%) | In 1 condition |
| LMBRD2LMBR1 domain containing 2 | Sometimes (5–29%) | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Sometimes (5–29%) | In 1 condition |
| LSSlanosterol synthase | 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 |
| MAU2MAU2 sister chromatid cohesion factor | Sometimes (5–29%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sometimes (5–29%) | In 1 condition |
| MECP2methyl-CpG binding protein 2 | Sometimes (5–29%) | In 2 conditions |
| MED13Lmediator complex subunit 13L | Sometimes (5–29%) | In 2 conditions |
| MED16mediator complex subunit 16 | 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 |
| NIPBLNIPBL cohesin loading factor | Sometimes (5–29%) | In 1 condition |
| NPHP1nephrocystin 1 | Sometimes (5–29%) | In 1 condition |
| PACS1phosphofurin acidic cluster sorting protein 1 | Sometimes (5–29%) | In 2 conditions |
| PLCH1phospholipase C eta 1 | Sometimes (5–29%) | In 1 condition |
| PMM2phosphomannomutase 2 | Sometimes (5–29%) | In 2 conditions |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Sometimes (5–29%) | In 2 conditions |
| PTENphosphatase and tensin homolog | Sometimes (5–29%) | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Sometimes (5–29%) | In 1 condition |
| RAD21RAD21 cohesin complex component | Sometimes (5–29%) | In 1 condition |
| RDH11retinol dehydrogenase 11 | Sometimes (5–29%) | In 1 condition |
| RHOBTB2Rho related BTB domain containing 2 | Sometimes (5–29%) | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | 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 |
| SIN3ASIN3 transcription regulator family member A | Sometimes (5–29%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Sometimes (5–29%) | In 1 condition |
| SLC4A10solute carrier family 4 member 10 | Sometimes (5–29%) | In 1 condition |
| SMC1Astructural maintenance of chromosomes 1A | Sometimes (5–29%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Sometimes (5–29%) | In 1 condition |
| SMG8SMG8 nonsense mediated mRNA decay factor | Sometimes (5–29%) | In 1 condition |
| SNAP29synaptosome associated protein 29 | Sometimes (5–29%) | In 1 condition |
| SOX6SRY-box transcription factor 6 | Sometimes (5–29%) | In 1 condition |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Sometimes (5–29%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sometimes (5–29%) | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Sometimes (5–29%) | In 1 condition |
| THOC2THO complex subunit 2 | 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 1 condition |
| TRMT10AtRNA methyltransferase 10A | Sometimes (5–29%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Sometimes (5–29%) | In 1 condition |
| TTI2TELO2 interacting protein 2 | Sometimes (5–29%) | In 2 conditions |
| UBE2Aubiquitin conjugating enzyme E2 A | Sometimes (5–29%) | In 1 condition |
| WDPCPWD repeat containing planar cell polarity effector | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Rarely (1–4%) | In 1 condition |
| CTCFCCCTC-binding factor | Rarely (1–4%) | In 1 condition |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Rarely (1–4%) | In 1 condition |
| TBCDtubulin folding cofactor D | Rarely (1–4%) | In 1 condition |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Not recorded | In 1 condition |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Not recorded | In 1 condition |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Not recorded | In 1 condition |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Not recorded | In 1 condition |
| BMP4bone morphogenetic protein 4 | Not recorded | In 1 condition |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Not recorded | In 1 condition |
| CBLCbl proto-oncogene | Not recorded | In 1 condition |
| CEP120centrosomal protein 120 | Not recorded | In 1 condition |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Not recorded | In 1 condition |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Not recorded | In 1 condition |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Not recorded | In 1 condition |
| FLNAfilamin A | Not recorded | In 1 condition |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Not recorded | In 1 condition |
| ITGA3integrin subunit alpha 3 | Not recorded | In 1 condition |
| JAG1jagged canonical Notch ligand 1 | Not recorded | In 1 condition |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Not recorded | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Not recorded | In 1 condition |
| MGPmatrix Gla protein | Not recorded | In 1 condition |
| MMACHCmetabolism of cobalamin associated C | Not recorded | In 1 condition |
| MPLKIPM-phase specific PLK1 interacting protein | Not recorded | In 1 condition |
| NDE1nudE neurodevelopment protein 1 | Not recorded | In 1 condition |
| NHSNHS actin remodeling regulator | Not recorded | In 1 condition |
| OPHN1oligophrenin 1 | Not recorded | In 1 condition |
| PCLOpiccolo presynaptic cytomatrix protein | Not recorded | In 1 condition |
| PHF6PHD finger protein 6 | Not recorded | In 1 condition |
| PHGDHphosphoglycerate dehydrogenase | Not recorded | In 1 condition |
| PRDX1peroxiredoxin 1 | Not recorded | In 1 condition |
| PRUNE1prune exopolyphosphatase 1 | Not recorded | In 1 condition |
| PSMB8proteasome 20S subunit beta 8 | Not recorded | In 1 condition |
| SALL1spalt like transcription factor 1 | Not recorded | In 1 condition |
| SETSET nuclear proto-oncogene | Not recorded | In 1 condition |
| SLC12A6solute carrier family 12 member 6 | Not recorded | In 1 condition |
| SLC16A2solute carrier family 16 member 2 | Not recorded | In 1 condition |
| TAF1TATA-box binding protein associated factor 1 | Not recorded | In 1 condition |
| TENM3teneurin transmembrane protein 3 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Narrower traits
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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