Træk
Long face
Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).
Resumé
- Også kaldet
- Elongation of face, Increased height of face, Increased length of face, Vertical elongation of face, Vertical enlargement of face, Vertical overgrowth of face, Increased vertical dimension of face, Long facies, Vertical excess of face, Vertical Facial Excess, Vertical hyperplasia of face
- Kropssystem
- Abnormality of head or neck
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Read the genes linked to Long face, and the rest of your genome, with one test.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger
Bestil min Genome Test272 gener knyttet til Long face
Ændringer i disse gener forårsager sjældne tilstande, hvor Long face ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ANKHANKH inorganic pyrophosphate transport regulator | Altid | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Altid | I 2 tilstande |
| CEP57centrosomal protein 57 | Altid | I 1 tilstand |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Altid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altid | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Altid | I 2 tilstande |
| FEM1Bfem-1 homolog B | Altid | I 1 tilstand |
| GON4Lgon-4 like | Altid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Altid | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Altid | I 2 tilstande |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altid | I 2 tilstande |
| MED12mediator complex subunit 12 | Altid | I 2 tilstande |
| NONOnon-POU domain containing octamer binding | Altid | I 2 tilstande |
| PAK1p21 (RAC1) activated kinase 1 | Altid | I 1 tilstand |
| PHF8PHD finger protein 8 | Altid | I 2 tilstande |
| PPFIA3PPFI scaffold protein A3 | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Altid | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Altid | I 2 tilstande |
| SLC2A10solute carrier family 2 member 10 | Altid | I 2 tilstande |
| SMAD2SMAD family member 2 | Altid | I 2 tilstande |
| SNAP29synaptosome associated protein 29 | Altid | I 2 tilstande |
| STRADASTE20 related adaptor alpha | Altid | I 1 tilstand |
| TPRKBTP53RK binding protein | Altid | I 1 tilstand |
| TRAIPTRAF interacting protein | Altid | I 1 tilstand |
| TSPAN7tetraspanin 7 | Altid | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Meget ofte (80–99 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Meget ofte (80–99 %) | I 3 tilstande |
| ASPHaspartate beta-hydroxylase | Meget ofte (80–99 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| BCAS3BCAS3 microtubule associated cell migration factor | Meget ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| FRA10AC1FRA10A associated CGG repeat 1 | Meget ofte (80–99 %) | I 1 tilstand |
Vis 232 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| GPR101G protein-coupled receptor 101 | Meget ofte (80–99 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Meget ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MGPmatrix Gla protein | Meget ofte (80–99 %) | I 2 tilstande |
| NBASNBAS subunit of NRZ tethering complex | Meget ofte (80–99 %) | I 1 tilstand |
| NFIXnuclear factor I X | Meget ofte (80–99 %) | I 2 tilstande |
| NHSNHS actin remodeling regulator | Meget ofte (80–99 %) | I 2 tilstande |
| NKAPNFKB activating protein | Meget ofte (80–99 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Meget ofte (80–99 %) | I 2 tilstande |
| PQBP1polyglutamine binding protein 1 | Meget ofte (80–99 %) | I 4 tilstande |
| SLC9A6solute carrier family 9 member A6 | Meget ofte (80–99 %) | I 2 tilstande |
| STEEP1STING1 ER exit protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Ofte (30–79 %) | I 3 tilstande |
| AHI1Abelson helper integration site 1 | Ofte (30–79 %) | I 2 tilstande |
| APCAPC regulator of Wnt signaling pathway | Ofte (30–79 %) | I 1 tilstand |
| ARL13BARF like GTPase 13B | Ofte (30–79 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Ofte (30–79 %) | I 1 tilstand |
| ARMC9armadillo repeat containing 9 | Ofte (30–79 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Ofte (30–79 %) | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Ofte (30–79 %) | I 1 tilstand |
| B9D1B9 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| B9D2B9 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Ofte (30–79 %) | I 1 tilstand |
| BRWD3bromodomain and WD repeat domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 2 tilstande |
| CBY1chibby 1, beta catenin antagonist | Ofte (30–79 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 2 tilstande |
| CEP104centrosomal protein 104 | Ofte (30–79 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Ofte (30–79 %) | I 2 tilstande |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 1 tilstand |
| CEP41centrosomal protein 41 | Ofte (30–79 %) | I 2 tilstande |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ofte (30–79 %) | I 2 tilstande |
| COMTcatechol-O-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| DOCK3dedicator of cytokinesis 3 | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 1 tilstand |
| EBF3EBF transcription factor 3 | Ofte (30–79 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 2 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 2 tilstande |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FGF3fibroblast growth factor 3 | Ofte (30–79 %) | I 3 tilstande |
| FILIP1filamin A interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 2 tilstande |
| GP1BBglycoprotein Ib platelet subunit beta | Ofte (30–79 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 3 tilstande |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ofte (30–79 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Ofte (30–79 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ofte (30–79 %) | I 3 tilstande |
| JMJD1Cjumonji domain containing 1C | Ofte (30–79 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KATNIPkatanin interacting protein | Ofte (30–79 %) | I 1 tilstand |
| KCNK9potassium two pore domain channel subfamily K member 9 | Ofte (30–79 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Ofte (30–79 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Ofte (30–79 %) | I 2 tilstande |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 1 tilstand |
| MID2midline 2 | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| MRASmuscle RAS oncogene homolog | Ofte (30–79 %) | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| MYH3myosin heavy chain 3 | Ofte (30–79 %) | I 1 tilstand |
| MYPNmyopalladin | Ofte (30–79 %) | I 2 tilstande |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Ofte (30–79 %) | I 2 tilstande |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 2 tilstande |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstande |
| PCGF2polycomb group ring finger 2 | Ofte (30–79 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 2 tilstande |
| PIBF1progesterone immunomodulatory binding factor 1 | Ofte (30–79 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Ofte (30–79 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Ofte (30–79 %) | I 1 tilstand |
| RIC1RIC1 partner of RAB6A GEF complex | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Ofte (30–79 %) | I 2 tilstande |
| RREB1ras responsive element binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RUSC2RUN and SH3 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Ofte (30–79 %) | I 2 tilstande |
| SEC24CSEC24 homolog C, COPII component | Ofte (30–79 %) | I 1 tilstand |
| SLC12A6solute carrier family 12 member 6 | Ofte (30–79 %) | I 1 tilstand |
| SLC16A2solute carrier family 16 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Ofte (30–79 %) | I 1 tilstand |
| SMAD3SMAD family member 3 | Ofte (30–79 %) | I 2 tilstande |
| SMSspermine synthase | Ofte (30–79 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 2 tilstande |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Ofte (30–79 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Ofte (30–79 %) | I 1 tilstand |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 2 tilstande |
| TET3tet methylcytosine dioxygenase 3 | Ofte (30–79 %) | I 1 tilstand |
| TMEM138transmembrane protein 138 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 2 tilstande |
| TMEM218transmembrane protein 218 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 2 tilstande |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 3 tilstande |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 2 tilstande |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Ofte (30–79 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 3 tilstande |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 5 tilstande |
| TSHZ3teashirt zinc finger homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ofte (30–79 %) | I 2 tilstande |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Ofte (30–79 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Ofte (30–79 %) | I 1 tilstand |
| WNT7AWnt family member 7A | Ofte (30–79 %) | I 1 tilstand |
| ZNF423zinc finger protein 423 | Ofte (30–79 %) | I 1 tilstand |
| ZNF711ZFX family zinc finger ZNF711 | Ofte (30–79 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Nogle gange (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Nogle gange (5–29 %) | I 2 tilstande |
| ATG7autophagy related 7 | Nogle gange (5–29 %) | I 1 tilstand |
| BCORL1BCL6 corepressor like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Nogle gange (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Nogle gange (5–29 %) | I 2 tilstande |
| CAPRIN1cell cycle associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Nogle gange (5–29 %) | I 1 tilstand |
| COG3component of oligomeric golgi complex 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CPSF3cleavage and polyadenylation specific factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CRKLCRK like proto-oncogene, adaptor protein | Nogle gange (5–29 %) | I 1 tilstand |
| CUX1cut like homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Nogle gange (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Nogle gange (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Nogle gange (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Nogle gange (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MEIS2Meis homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MTM1myotubularin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MYL2myosin light chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Nogle gange (5–29 %) | I 1 tilstand |
| PCDHGC4protocadherin gamma subfamily C, 4 | Nogle gange (5–29 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Nogle gange (5–29 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Nogle gange (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Nogle gange (5–29 %) | I 3 tilstande |
| SELENONselenoprotein N | Nogle gange (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SGCGsarcoglycan gamma | Nogle gange (5–29 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX6SRY-box transcription factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCBtubulin folding cofactor B | Nogle gange (5–29 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM147transmembrane protein 147 | Nogle gange (5–29 %) | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Nogle gange (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Nogle gange (5–29 %) | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Nogle gange (5–29 %) | I 1 tilstand |
| TTNtitin | Nogle gange (5–29 %) | I 1 tilstand |
| VMA22vacuolar ATPase assembly factor VMA22 | Nogle gange (5–29 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Nogle gange (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjældent (1–4%) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Sjældent (1–4%) | I 2 tilstande |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Sjældent (1–4%) | I 2 tilstande |
| ASXL1ASXL transcriptional regulator 1 | Ikke registreret | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ikke registreret | I 1 tilstand |
| BCORBCL6 corepressor | Ikke registreret | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registreret | I 1 tilstand |
| CCDC174coiled-coil domain containing 174 | Ikke registreret | I 1 tilstand |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ikke registreret | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Ikke registreret | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Ikke registreret | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registreret | I 1 tilstand |
| FBN1fibrillin 1 | Ikke registreret | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Ikke registreret | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Ikke registreret | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registreret | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registreret | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| NFIBnuclear factor I B | Ikke registreret | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ikke registreret | I 1 tilstand |
| OPHN1oligophrenin 1 | Ikke registreret | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registreret | I 1 tilstand |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Ikke registreret | I 1 tilstand |
| POC1APOC1 centriolar protein A | Ikke registreret | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registreret | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Ikke registreret | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registreret | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ikke registreret | I 1 tilstand |
| SIX1SIX homeobox 1 | Ikke registreret | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ikke registreret | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ikke registreret | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registreret | I 1 tilstand |
| TLK2tousled like kinase 2 | Ikke registreret | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger