Egenskap
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).
Sammendrag
- Også kalt
- 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
- Kroppssystem
- Abnormality of head or neck
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test272 gener knyttet til Long face
Endringer i disse genene forårsaker sjeldne tilstander der Long face 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 |
|---|---|---|
| ANKHANKH inorganic pyrophosphate transport regulator | Alltid | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Alltid | I 2 tilstander |
| CEP57centrosomal protein 57 | Alltid | I 1 tilstand |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | 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 |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Alltid | I 2 tilstander |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| GON4Lgon-4 like | Alltid | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Alltid | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Alltid | I 2 tilstander |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Alltid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Alltid | I 2 tilstander |
| MED12mediator complex subunit 12 | Alltid | I 2 tilstander |
| NONOnon-POU domain containing octamer binding | Alltid | I 2 tilstander |
| PAK1p21 (RAC1) activated kinase 1 | Alltid | I 1 tilstand |
| PHF8PHD finger protein 8 | Alltid | I 2 tilstander |
| PPFIA3PPFI scaffold protein A3 | Alltid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Alltid | I 1 tilstand |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Alltid | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Alltid | I 2 tilstander |
| SLC2A10solute carrier family 2 member 10 | Alltid | I 2 tilstander |
| SMAD2SMAD family member 2 | Alltid | I 2 tilstander |
| SNAP29synaptosome associated protein 29 | Alltid | I 2 tilstander |
| STRADASTE20 related adaptor alpha | Alltid | I 1 tilstand |
| TPRKBTP53RK binding protein | Alltid | I 1 tilstand |
| TRAIPTRAF interacting protein | Alltid | I 1 tilstand |
| TSPAN7tetraspanin 7 | Alltid | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Svært ofte (80–99 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Svært ofte (80–99 %) | I 3 tilstander |
| ASPHaspartate beta-hydroxylase | Svært ofte (80–99 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Svært ofte (80–99 %) | I 2 tilstander |
| BCAS3BCAS3 microtubule associated cell migration factor | Svært ofte (80–99 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| FRA10AC1FRA10A associated CGG repeat 1 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 232 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| GPR101G protein-coupled receptor 101 | Svært ofte (80–99 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Svært ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MGPmatrix Gla protein | Svært ofte (80–99 %) | I 2 tilstander |
| NBASNBAS subunit of NRZ tethering complex | Svært ofte (80–99 %) | I 1 tilstand |
| NFIXnuclear factor I X | Svært ofte (80–99 %) | I 2 tilstander |
| NHSNHS actin remodeling regulator | Svært ofte (80–99 %) | I 2 tilstander |
| NKAPNFKB activating protein | Svært ofte (80–99 %) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Svært ofte (80–99 %) | I 2 tilstander |
| PQBP1polyglutamine binding protein 1 | Svært ofte (80–99 %) | I 4 tilstander |
| SLC9A6solute carrier family 9 member A6 | Svært ofte (80–99 %) | I 2 tilstander |
| STEEP1STING1 ER exit protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Ofte (30–79 %) | I 3 tilstander |
| AHI1Abelson helper integration site 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| CBY1chibby 1, beta catenin antagonist | Ofte (30–79 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 2 tilstander |
| CEP104centrosomal protein 104 | Ofte (30–79 %) | I 1 tilstand |
| CEP120centrosomal protein 120 | Ofte (30–79 %) | I 2 tilstander |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 1 tilstand |
| CEP41centrosomal protein 41 | Ofte (30–79 %) | I 2 tilstander |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Ofte (30–79 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ofte (30–79 %) | I 2 tilstander |
| COMTcatechol-O-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ofte (30–79 %) | I 2 tilstander |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FGF3fibroblast growth factor 3 | Ofte (30–79 %) | I 3 tilstander |
| FILIP1filamin A interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| FMR1fragile X messenger ribonucleoprotein 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| MRASmuscle RAS oncogene homolog | Ofte (30–79 %) | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstander |
| MYH3myosin heavy chain 3 | Ofte (30–79 %) | I 1 tilstand |
| MYPNmyopalladin | Ofte (30–79 %) | I 2 tilstander |
| NPHP1nephrocystin 1 | Ofte (30–79 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Ofte (30–79 %) | I 2 tilstander |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 2 tilstander |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstander |
| PCGF2polycomb group ring finger 2 | Ofte (30–79 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| TMEM218transmembrane protein 218 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 2 tilstander |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 3 tilstander |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| TPM3tropomyosin 3 | Ofte (30–79 %) | I 5 tilstander |
| TSHZ3teashirt zinc finger homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ofte (30–79 %) | I 2 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| AKT1AKT serine/threonine kinase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Noen ganger (5–29 %) | I 2 tilstander |
| ATG7autophagy related 7 | Noen ganger (5–29 %) | I 1 tilstand |
| BCORL1BCL6 corepressor like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| BIN1bridging integrator 1 | Noen ganger (5–29 %) | I 2 tilstander |
| CAPRIN1cell cycle associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | 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 |
| CPSF3cleavage and polyadenylation specific factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CRKLCRK like proto-oncogene, adaptor protein | Noen ganger (5–29 %) | I 1 tilstand |
| CUX1cut like homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Noen ganger (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Noen ganger (5–29 %) | I 1 tilstand |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Noen ganger (5–29 %) | I 1 tilstand |
| ITGA7integrin subunit alpha 7 | Noen ganger (5–29 %) | I 1 tilstand |
| KBTBD13kelch repeat and BTB domain containing 13 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MEIS2Meis homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MTM1myotubularin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MYL2myosin light chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NEBnebulin | Noen ganger (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NRCAMneuronal cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| PCDHGC4protocadherin gamma subfamily C, 4 | Noen ganger (5–29 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Noen ganger (5–29 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Noen ganger (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Noen ganger (5–29 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Noen ganger (5–29 %) | I 3 tilstander |
| SELENONselenoprotein N | Noen ganger (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SGCGsarcoglycan gamma | Noen ganger (5–29 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX6SRY-box transcription factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| SPEGstriated muscle enriched protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | 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 |
| TBCBtubulin folding cofactor B | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM147transmembrane protein 147 | Noen ganger (5–29 %) | I 1 tilstand |
| TNNT1troponin T1, slow skeletal type | Noen ganger (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Noen ganger (5–29 %) | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Noen ganger (5–29 %) | I 1 tilstand |
| TTNtitin | Noen ganger (5–29 %) | I 1 tilstand |
| VMA22vacuolar ATPase assembly factor VMA22 | Noen ganger (5–29 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjelden (1–4%) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Sjelden (1–4%) | I 2 tilstander |
| CTCFCCCTC-binding factor | Sjelden (1–4%) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Sjelden (1–4%) | I 2 tilstander |
| ASXL1ASXL transcriptional regulator 1 | Ikke registrert | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ikke registrert | I 1 tilstand |
| BCORBCL6 corepressor | Ikke registrert | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registrert | I 1 tilstand |
| CCDC174coiled-coil domain containing 174 | Ikke registrert | I 1 tilstand |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Ikke registrert | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Ikke registrert | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Ikke registrert | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registrert | I 1 tilstand |
| FBN1fibrillin 1 | Ikke registrert | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Ikke registrert | I 1 tilstand |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Ikke registrert | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registrert | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registrert | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registrert | I 1 tilstand |
| NFIBnuclear factor I B | Ikke registrert | I 1 tilstand |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Ikke registrert | I 1 tilstand |
| OPHN1oligophrenin 1 | Ikke registrert | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registrert | I 1 tilstand |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Ikke registrert | I 1 tilstand |
| POC1APOC1 centriolar protein A | Ikke registrert | I 1 tilstand |
| PRDX1peroxiredoxin 1 | Ikke registrert | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RAPSNreceptor associated protein of the synapse | Ikke registrert | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Ikke registrert | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ikke registrert | I 1 tilstand |
| SIX1SIX homeobox 1 | Ikke registrert | I 1 tilstand |
| SLC6A8solute carrier family 6 member 8 | Ikke registrert | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ikke registrert | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registrert | I 1 tilstand |
| TLK2tousled like kinase 2 | Ikke registrert | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | 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.
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