Egenskap
Large ears
Klinisk navn: 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).
Sammendrag
- Også kalt
- Large pinnae
- Kroppssystem
- Abnormality of the ear
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Endringer i disse genene forårsaker sjeldne tilstander der Large ears forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AGO1argonaute RISC component 1 | Alltid | I 1 tilstand |
| AP3D1adaptor related protein complex 3 subunit delta 1 | Alltid | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Alltid | I 1 tilstand |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Alltid | I 1 tilstand |
| CITcitron rho-interacting serine/threonine kinase | Alltid | I 1 tilstand |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alltid | I 1 tilstand |
| DENND5ADENN domain containing 5A | Alltid | I 1 tilstand |
| EEDembryonic ectoderm development | Alltid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Alltid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| ERI1exoribonuclease 1 | Alltid | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Alltid | I 2 tilstander |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Alltid | I 2 tilstander |
| IKZF2IKAROS family zinc finger 2 | Alltid | I 1 tilstand |
| KDM5Clysine demethylase 5C | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Alltid | I 2 tilstander |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alltid | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Alltid | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Alltid | I 2 tilstander |
| NBNnibrin | Alltid | I 2 tilstander |
| NEXMIFneurite extension and migration factor | Alltid | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Alltid | I 2 tilstander |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alltid | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Alltid | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Alltid | I 2 tilstander |
| QRICH1glutamine rich 1 | Alltid | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Alltid | I 3 tilstander |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alltid | I 2 tilstander |
| RBMXRNA binding motif protein X-linked | Alltid | I 3 tilstander |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| SLC6A17solute carrier family 6 member 17 | Alltid | I 2 tilstander |
| SUOXsulfite oxidase | Alltid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Alltid | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Alltid | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Alltid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Alltid | I 1 tilstand |
| ZNF668zinc finger protein 668 | Alltid | I 1 tilstand |
Vis 240 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AIPAHR interacting HSP90 co-chaperone | Svært ofte (80–99 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Svært ofte (80–99 %) | I 1 tilstand |
| BRWD3bromodomain and WD repeat domain containing 3 | Svært ofte (80–99 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Svært ofte (80–99 %) | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Svært ofte (80–99 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Svært ofte (80–99 %) | I 2 tilstander |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Svært ofte (80–99 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Svært ofte (80–99 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Svært ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Svært ofte (80–99 %) | I 1 tilstand |
| GPR101G protein-coupled receptor 101 | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HHAThedgehog acyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Svært ofte (80–99 %) | I 3 tilstander |
| KMT2Dlysine methyltransferase 2D | Svært ofte (80–99 %) | I 2 tilstander |
| LIMK1LIM domain kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Svært ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Svært ofte (80–99 %) | I 1 tilstand |
| NECTIN1nectin cell adhesion molecule 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Svært ofte (80–99 %) | I 2 tilstander |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Svært ofte (80–99 %) | I 2 tilstander |
| SSR4signal sequence receptor subunit 4 | Svært ofte (80–99 %) | I 2 tilstander |
| STX1Asyntaxin 1A | Svært ofte (80–99 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Svært ofte (80–99 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TBX22T-box transcription factor 22 | Svært ofte (80–99 %) | I 2 tilstander |
| TMEM270transmembrane protein 270 | Svært ofte (80–99 %) | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Svært ofte (80–99 %) | I 2 tilstander |
| VPS37DVPS37D subunit of ESCRT-I | Svært ofte (80–99 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Svært ofte (80–99 %) | I 2 tilstander |
| ZNF526zinc finger protein 526 | Svært ofte (80–99 %) | I 1 tilstand |
| ZNHIT3zinc finger HIT-type containing 3 | Svært ofte (80–99 %) | I 1 tilstand |
| ADAMTSL1ADAMTS like 1 | Ofte (30–79 %) | I 1 tilstand |
| AEBP1AE binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| AKT1AKT serine/threonine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| AMOTL1angiomotin like 1 | Ofte (30–79 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Ofte (30–79 %) | I 2 tilstander |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ofte (30–79 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Ofte (30–79 %) | I 2 tilstander |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 2 tilstander |
| CENPEcentromere protein E | Ofte (30–79 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Ofte (30–79 %) | I 1 tilstand |
| CLIC2CLIC family member 2 | Ofte (30–79 %) | I 1 tilstand |
| CPEcarboxypeptidase E | Ofte (30–79 %) | I 1 tilstand |
| CTU2cytosolic thiouridylase subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| DDB1damage specific DNA binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Ofte (30–79 %) | I 2 tilstander |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 2 tilstander |
| FTSJ1FtsJ RNA 2'-O-methyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| GON7GON7 subunit of KEOPS complex | Ofte (30–79 %) | I 1 tilstand |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KATNB1katanin regulatory subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Ofte (30–79 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Ofte (30–79 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 1 tilstand |
| LAGE3L antigen family member 3 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ofte (30–79 %) | I 1 tilstand |
| MID2midline 2 | Ofte (30–79 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ofte (30–79 %) | I 2 tilstander |
| NUP107nucleoporin 107 | Ofte (30–79 %) | I 1 tilstand |
| NUP133nucleoporin 133 | Ofte (30–79 %) | I 1 tilstand |
| ODC1ornithine decarboxylase 1 | Ofte (30–79 %) | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ofte (30–79 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstander |
| OTUD7AOTU deubiquitinase 7A | Ofte (30–79 %) | I 1 tilstand |
| PAK3p21 (RAC1) activated kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ofte (30–79 %) | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Ofte (30–79 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Ofte (30–79 %) | I 3 tilstander |
| PTCH1patched 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Ofte (30–79 %) | I 2 tilstander |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ofte (30–79 %) | I 1 tilstand |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Ofte (30–79 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Ofte (30–79 %) | I 2 tilstander |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| STEEP1STING1 ER exit protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 2 tilstander |
| TP53RKTP53 regulating kinase | Ofte (30–79 %) | I 1 tilstand |
| TPRKBTP53RK binding protein | Ofte (30–79 %) | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| WDR73WD repeat domain 73 | Ofte (30–79 %) | I 2 tilstander |
| WSB2WD repeat and SOCS box containing 2 | Ofte (30–79 %) | I 1 tilstand |
| YME1L1YME1 like 1 ATPase | Ofte (30–79 %) | I 1 tilstand |
| YRDCyrdC N6-threonylcarbamoyltransferase domain containing | Ofte (30–79 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Ofte (30–79 %) | I 1 tilstand |
| ZNF711ZFX family zinc finger ZNF711 | Ofte (30–79 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AHSGalpha 2-HS glycoprotein | Noen ganger (5–29 %) | I 1 tilstand |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Noen ganger (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Noen ganger (5–29 %) | I 1 tilstand |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Noen ganger (5–29 %) | I 1 tilstand |
| COG3component of oligomeric golgi complex 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Noen ganger (5–29 %) | I 3 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Noen ganger (5–29 %) | I 3 tilstander |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| GLB1galactosidase beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Noen ganger (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Noen ganger (5–29 %) | I 2 tilstander |
| IPO8importin 8 | Noen ganger (5–29 %) | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ITGB6integrin subunit beta 6 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Noen ganger (5–29 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LMBRD2LMBR1 domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Noen ganger (5–29 %) | I 1 tilstand |
| LSSlanosterol synthase | Noen ganger (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Noen ganger (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MED13Lmediator complex subunit 13L | Noen ganger (5–29 %) | I 2 tilstander |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Noen ganger (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PLCH1phospholipase C eta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 2 tilstander |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| RDH11retinol dehydrogenase 11 | Noen ganger (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Noen ganger (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Noen ganger (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SMG8SMG8 nonsense mediated mRNA decay factor | Noen ganger (5–29 %) | I 1 tilstand |
| SNAP29synaptosome associated protein 29 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX6SRY-box transcription factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Noen ganger (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Noen ganger (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TTI2TELO2 interacting protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| UBE2Aubiquitin conjugating enzyme E2 A | Noen ganger (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Sjelden (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjelden (1–4%) | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Sjelden (1–4%) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Sjelden (1–4%) | I 1 tilstand |
| AGPAT21-acylglycerol-3-phosphate O-acyltransferase 2 | Ikke registrert | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ikke registrert | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Ikke registrert | I 1 tilstand |
| ASNSasparagine synthetase (glutamine-hydrolyzing) | Ikke registrert | I 1 tilstand |
| BMP4bone morphogenetic protein 4 | Ikke registrert | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registrert | I 1 tilstand |
| CBLCbl proto-oncogene | Ikke registrert | I 1 tilstand |
| CEP120centrosomal protein 120 | Ikke registrert | I 1 tilstand |
| CHRNA1cholinergic receptor nicotinic alpha 1 subunit | Ikke registrert | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registrert | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Ikke registrert | I 1 tilstand |
| FLNAfilamin A | Ikke registrert | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ikke registrert | I 1 tilstand |
| ITGA3integrin subunit alpha 3 | Ikke registrert | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Ikke registrert | I 1 tilstand |
| KCNJ1potassium inwardly rectifying channel subfamily J member 1 | Ikke registrert | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registrert | I 1 tilstand |
| MGPmatrix Gla protein | Ikke registrert | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Ikke registrert | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Ikke registrert | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Ikke registrert | I 1 tilstand |
| NHSNHS actin remodeling regulator | Ikke registrert | I 1 tilstand |
| OPHN1oligophrenin 1 | Ikke registrert | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Ikke registrert | I 1 tilstand |
| PHF6PHD finger protein 6 | Ikke registrert | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registrert | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registrert | I 1 tilstand |
| PRUNE1prune exopolyphosphatase 1 | Ikke registrert | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Ikke registrert | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Ikke registrert | I 1 tilstand |
| SETSET nuclear proto-oncogene | Ikke registrert | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Ikke registrert | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ikke registrert | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ikke registrert | I 1 tilstand |
| TENM3teneurin transmembrane protein 3 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker