Cecha
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).
Podsumowanie
- Znana także jako
- 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
- Układ organizmu
- Abnormality of head or neck
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
Read the genes linked to Long face, and the rest of your genome, with one test.
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Zamawiam Genome Test272 genów powiązanych z Long face
Zmiany w tych genach powodują rzadkie choroby, w których występuje Long face. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ANKHANKH inorganic pyrophosphate transport regulator | Zawsze | W 1 chorobie |
| APC2APC regulator of Wnt signaling pathway 2 | Zawsze | W 2 chorobach |
| CEP57centrosomal protein 57 | Zawsze | W 1 chorobie |
| CHRNB1cholinergic receptor nicotinic beta 1 subunit | Zawsze | W 1 chorobie |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Zawsze | W 1 chorobie |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Zawsze | W 1 chorobie |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Zawsze | W 1 chorobie |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Zawsze | W 2 chorobach |
| FEM1Bfem-1 homolog B | Zawsze | W 1 chorobie |
| GON4Lgon-4 like | Zawsze | W 1 chorobie |
| GTF3C3general transcription factor IIIC subunit 3 | Zawsze | W 1 chorobie |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Zawsze | W 2 chorobach |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Zawsze | W 1 chorobie |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| MAP2K2mitogen-activated protein kinase kinase 2 | Zawsze | W 2 chorobach |
| MED12mediator complex subunit 12 | Zawsze | W 2 chorobach |
| NONOnon-POU domain containing octamer binding | Zawsze | W 2 chorobach |
| PAK1p21 (RAC1) activated kinase 1 | Zawsze | W 1 chorobie |
| PHF8PHD finger protein 8 | Zawsze | W 2 chorobach |
| PPFIA3PPFI scaffold protein A3 | Zawsze | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Zawsze | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Zawsze | W 2 chorobach |
| SLC2A10solute carrier family 2 member 10 | Zawsze | W 2 chorobach |
| SMAD2SMAD family member 2 | Zawsze | W 2 chorobach |
| SNAP29synaptosome associated protein 29 | Zawsze | W 2 chorobach |
| STRADASTE20 related adaptor alpha | Zawsze | W 1 chorobie |
| TPRKBTP53RK binding protein | Zawsze | W 1 chorobie |
| TRAIPTRAF interacting protein | Zawsze | W 1 chorobie |
| TSPAN7tetraspanin 7 | Zawsze | W 1 chorobie |
| UBAP2Lubiquitin associated protein 2 like | Zawsze | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| AIPAHR interacting HSP90 co-chaperone | Bardzo często (80–99%) | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Bardzo często (80–99%) | W 3 chorobach |
| ASPHaspartate beta-hydroxylase | Bardzo często (80–99%) | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Bardzo często (80–99%) | W 2 chorobach |
| BCAS3BCAS3 microtubule associated cell migration factor | Bardzo często (80–99%) | W 1 chorobie |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Bardzo często (80–99%) | W 1 chorobie |
| FRA10AC1FRA10A associated CGG repeat 1 | Bardzo często (80–99%) | W 1 chorobie |
Pokaż jeszcze 232 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| GPR101G protein-coupled receptor 101 | Bardzo często (80–99%) | W 1 chorobie |
| KAT6Alysine acetyltransferase 6A | Bardzo często (80–99%) | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 1 chorobie |
| MAP2K1mitogen-activated protein kinase kinase 1 | Bardzo często (80–99%) | W 1 chorobie |
| MGPmatrix Gla protein | Bardzo często (80–99%) | W 2 chorobach |
| NBASNBAS subunit of NRZ tethering complex | Bardzo często (80–99%) | W 1 chorobie |
| NFIXnuclear factor I X | Bardzo często (80–99%) | W 2 chorobach |
| NHSNHS actin remodeling regulator | Bardzo często (80–99%) | W 2 chorobach |
| NKAPNFKB activating protein | Bardzo często (80–99%) | W 1 chorobie |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Bardzo często (80–99%) | W 2 chorobach |
| PQBP1polyglutamine binding protein 1 | Bardzo często (80–99%) | W 4 chorobach |
| SLC9A6solute carrier family 9 member A6 | Bardzo często (80–99%) | W 2 chorobach |
| STEEP1STING1 ER exit protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| ACTA1actin alpha 1, skeletal muscle | Często (30–79%) | W 3 chorobach |
| AHI1Abelson helper integration site 1 | Często (30–79%) | W 2 chorobach |
| APCAPC regulator of Wnt signaling pathway | Często (30–79%) | W 1 chorobie |
| ARL13BARF like GTPase 13B | Często (30–79%) | W 1 chorobie |
| ARL3ARF like GTPase 3 | Często (30–79%) | W 1 chorobie |
| ARMC9armadillo repeat containing 9 | Często (30–79%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Często (30–79%) | W 1 chorobie |
| ASXL2ASXL transcriptional regulator 2 | Często (30–79%) | W 1 chorobie |
| B9D1B9 domain containing 1 | Często (30–79%) | W 1 chorobie |
| B9D2B9 domain containing 2 | Często (30–79%) | W 1 chorobie |
| BORCS8BLOC-1 related complex subunit 8 | Często (30–79%) | W 1 chorobie |
| BRWD3bromodomain and WD repeat domain containing 3 | Często (30–79%) | W 1 chorobie |
| CAMTA1calmodulin binding transcription activator 1 | Często (30–79%) | W 2 chorobach |
| CBY1chibby 1, beta catenin antagonist | Często (30–79%) | W 1 chorobie |
| CC2D2Acoiled-coil and C2 domain containing 2A | Często (30–79%) | W 2 chorobach |
| CEP104centrosomal protein 104 | Często (30–79%) | W 1 chorobie |
| CEP120centrosomal protein 120 | Często (30–79%) | W 2 chorobach |
| CEP290centrosomal protein 290 | Często (30–79%) | W 1 chorobie |
| CEP41centrosomal protein 41 | Często (30–79%) | W 2 chorobach |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Często (30–79%) | W 1 chorobie |
| CHRNGcholinergic receptor nicotinic gamma subunit | Często (30–79%) | W 2 chorobach |
| COMTcatechol-O-methyltransferase | Często (30–79%) | W 1 chorobie |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Często (30–79%) | W 2 chorobach |
| CSPP1centrosome and spindle pole associated protein 1 | Często (30–79%) | W 1 chorobie |
| DDR2discoidin domain receptor tyrosine kinase 2 | Często (30–79%) | W 1 chorobie |
| DOCK3dedicator of cytokinesis 3 | Często (30–79%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Często (30–79%) | W 1 chorobie |
| EBF3EBF transcription factor 3 | Często (30–79%) | W 1 chorobie |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Często (30–79%) | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Często (30–79%) | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Często (30–79%) | W 2 chorobach |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Często (30–79%) | W 2 chorobach |
| FAM149B1family with sequence similarity 149 member B1 | Często (30–79%) | W 1 chorobie |
| FGF3fibroblast growth factor 3 | Często (30–79%) | W 3 chorobach |
| FILIP1filamin A interacting protein 1 | Często (30–79%) | W 1 chorobie |
| FMR1fragile X messenger ribonucleoprotein 1 | Często (30–79%) | W 2 chorobach |
| GP1BBglycoprotein Ib platelet subunit beta | Często (30–79%) | W 1 chorobie |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Często (30–79%) | W 1 chorobie |
| HIRAhistone cell cycle regulator | Często (30–79%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Często (30–79%) | W 3 chorobach |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Często (30–79%) | W 1 chorobie |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Często (30–79%) | W 1 chorobie |
| IFT74intraflagellar transport 74 | Często (30–79%) | W 1 chorobie |
| INPP5Einositol polyphosphate-5-phosphatase E | Często (30–79%) | W 3 chorobach |
| JMJD1Cjumonji domain containing 1C | Często (30–79%) | W 1 chorobie |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Często (30–79%) | W 1 chorobie |
| KATNIPkatanin interacting protein | Często (30–79%) | W 1 chorobie |
| KCNK9potassium two pore domain channel subfamily K member 9 | Często (30–79%) | W 1 chorobie |
| KIAA0586KIAA0586 | Często (30–79%) | W 1 chorobie |
| KIAA0753KIAA0753 | Często (30–79%) | W 2 chorobach |
| KIF7kinesin family member 7 | Często (30–79%) | W 1 chorobie |
| MID2midline 2 | Często (30–79%) | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Często (30–79%) | W 2 chorobach |
| MRASmuscle RAS oncogene homolog | Często (30–79%) | W 1 chorobie |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Często (30–79%) | W 2 chorobach |
| MYH3myosin heavy chain 3 | Często (30–79%) | W 1 chorobie |
| MYPNmyopalladin | Często (30–79%) | W 2 chorobach |
| NPHP1nephrocystin 1 | Często (30–79%) | W 1 chorobie |
| NSD1nuclear receptor binding SET domain protein 1 | Często (30–79%) | W 2 chorobach |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Często (30–79%) | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Często (30–79%) | W 2 chorobach |
| OTUD6BOTU deubiquitinase 6B | Często (30–79%) | W 2 chorobach |
| PCGF2polycomb group ring finger 2 | Często (30–79%) | W 1 chorobie |
| PDE6Dphosphodiesterase 6D | Często (30–79%) | W 2 chorobach |
| PIBF1progesterone immunomodulatory binding factor 1 | Często (30–79%) | W 1 chorobie |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Często (30–79%) | W 1 chorobie |
| PMM2phosphomannomutase 2 | Często (30–79%) | W 1 chorobie |
| POU4F1POU class 4 homeobox 1 | Często (30–79%) | W 1 chorobie |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Często (30–79%) | W 1 chorobie |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Często (30–79%) | W 1 chorobie |
| PYROXD1pyridine nucleotide-disulphide oxidoreductase domain 1 | Często (30–79%) | W 1 chorobie |
| RIC1RIC1 partner of RAB6A GEF complex | Często (30–79%) | W 1 chorobie |
| RPGRIP1LRPGRIP1 like | Często (30–79%) | W 2 chorobach |
| RREB1ras responsive element binding protein 1 | Często (30–79%) | W 1 chorobie |
| RUSC2RUN and SH3 domain containing 2 | Często (30–79%) | W 1 chorobie |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Często (30–79%) | W 2 chorobach |
| SEC24CSEC24 homolog C, COPII component | Często (30–79%) | W 1 chorobie |
| SLC12A6solute carrier family 12 member 6 | Często (30–79%) | W 1 chorobie |
| SLC16A2solute carrier family 16 member 2 | Często (30–79%) | W 1 chorobie |
| SLC9A7solute carrier family 9 member A7 | Często (30–79%) | W 1 chorobie |
| SMAD3SMAD family member 3 | Często (30–79%) | W 2 chorobach |
| SMSspermine synthase | Często (30–79%) | W 1 chorobie |
| SUFUSUFU negative regulator of hedgehog signaling | Często (30–79%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Często (30–79%) | W 2 chorobach |
| TBX1T-box transcription factor 1 | Często (30–79%) | W 1 chorobie |
| TCTN1tectonic family member 1 | Często (30–79%) | W 1 chorobie |
| TCTN2tectonic family member 2 | Często (30–79%) | W 1 chorobie |
| TCTN3tectonic family member 3 | Często (30–79%) | W 2 chorobach |
| TET3tet methylcytosine dioxygenase 3 | Często (30–79%) | W 1 chorobie |
| TMEM138transmembrane protein 138 | Często (30–79%) | W 1 chorobie |
| TMEM216transmembrane protein 216 | Często (30–79%) | W 2 chorobach |
| TMEM218transmembrane protein 218 | Często (30–79%) | W 1 chorobie |
| TMEM231transmembrane protein 231 | Często (30–79%) | W 2 chorobach |
| TMEM237transmembrane protein 237 | Często (30–79%) | W 3 chorobach |
| TMEM67transmembrane protein 67 | Często (30–79%) | W 2 chorobach |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Często (30–79%) | W 1 chorobie |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Często (30–79%) | W 1 chorobie |
| TPM2tropomyosin 2 | Często (30–79%) | W 3 chorobach |
| TPM3tropomyosin 3 | Często (30–79%) | W 5 chorobach |
| TSHZ3teashirt zinc finger homeobox 3 | Często (30–79%) | W 1 chorobie |
| UBE3Bubiquitin protein ligase E3B | Często (30–79%) | W 2 chorobach |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Często (30–79%) | W 1 chorobie |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Często (30–79%) | W 1 chorobie |
| WNT7AWnt family member 7A | Często (30–79%) | W 1 chorobie |
| ZNF423zinc finger protein 423 | Często (30–79%) | W 1 chorobie |
| ZNF711ZFX family zinc finger ZNF711 | Często (30–79%) | W 1 chorobie |
| ADAT3adenosine deaminase tRNA specific 3 | Czasami (5–29%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Czasami (5–29%) | W 1 chorobie |
| AKT1AKT serine/threonine kinase 1 | Czasami (5–29%) | W 2 chorobach |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Czasami (5–29%) | W 1 chorobie |
| ANKRD11ankyrin repeat domain 11 | Czasami (5–29%) | W 1 chorobie |
| ATAD3AATPase family AAA domain containing 3A | Czasami (5–29%) | W 2 chorobach |
| ATG7autophagy related 7 | Czasami (5–29%) | W 1 chorobie |
| BCORL1BCL6 corepressor like 1 | Czasami (5–29%) | W 1 chorobie |
| BCRBCR activator of RhoGEF and GTPase | Czasami (5–29%) | W 1 chorobie |
| BIN1bridging integrator 1 | Czasami (5–29%) | W 2 chorobach |
| CAPRIN1cell cycle associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| CDC42BPBCDC42 binding protein kinase beta | Czasami (5–29%) | W 1 chorobie |
| CLCN3Cl-/H+ antiporter 3 | Czasami (5–29%) | W 1 chorobie |
| COG3component of oligomeric golgi complex 3 | Czasami (5–29%) | W 1 chorobie |
| CPSF3cleavage and polyadenylation specific factor 3 | Czasami (5–29%) | W 1 chorobie |
| CRKLCRK like proto-oncogene, adaptor protein | Czasami (5–29%) | W 1 chorobie |
| CUX1cut like homeobox 1 | Czasami (5–29%) | W 1 chorobie |
| DHX30DExH-box helicase 30 | Czasami (5–29%) | W 1 chorobie |
| EXTL3exostosin like glycosyltransferase 3 | Czasami (5–29%) | W 1 chorobie |
| FBXO11F-box protein 11 | Czasami (5–29%) | W 1 chorobie |
| FRYLFRY like transcription coactivator | Czasami (5–29%) | W 1 chorobie |
| HACD13-hydroxyacyl-CoA dehydratase 1 | Czasami (5–29%) | W 1 chorobie |
| HIVEP2HIVEP zinc finger 2 | Czasami (5–29%) | W 1 chorobie |
| IFT56intraflagellar transport 56 | Czasami (5–29%) | W 1 chorobie |
| ITGA7integrin subunit alpha 7 | Czasami (5–29%) | W 1 chorobie |
| KBTBD13kelch repeat and BTB domain containing 13 | Czasami (5–29%) | W 1 chorobie |
| KDM2Blysine demethylase 2B | Czasami (5–29%) | W 1 chorobie |
| KLHL41kelch like family member 41 | Czasami (5–29%) | W 1 chorobie |
| KMT2Blysine methyltransferase 2B | Czasami (5–29%) | W 1 chorobie |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Czasami (5–29%) | W 1 chorobie |
| MAN1B1mannosidase alpha class 1B member 1 | Czasami (5–29%) | W 2 chorobach |
| MAP3K20mitogen-activated protein kinase kinase kinase 20 | Czasami (5–29%) | W 1 chorobie |
| MAPK1mitogen-activated protein kinase 1 | Czasami (5–29%) | W 1 chorobie |
| MAPRE2microtubule associated protein RP/EB family member 2 | Czasami (5–29%) | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Czasami (5–29%) | W 1 chorobie |
| MEIS2Meis homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| MSL2MSL complex subunit 2 | Czasami (5–29%) | W 1 chorobie |
| MTM1myotubularin 1 | Czasami (5–29%) | W 2 chorobach |
| MYL2myosin light chain 2 | Czasami (5–29%) | W 1 chorobie |
| NEBnebulin | Czasami (5–29%) | W 1 chorobie |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Czasami (5–29%) | W 1 chorobie |
| NF1neurofibromin 1 | Czasami (5–29%) | W 1 chorobie |
| NKX6-2NK6 homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| NRCAMneuronal cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| PCDHGC4protocadherin gamma subfamily C, 4 | Czasami (5–29%) | W 1 chorobie |
| POLA1DNA polymerase alpha 1, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Czasami (5–29%) | W 1 chorobie |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Czasami (5–29%) | W 1 chorobie |
| PTBP1polypyrimidine tract binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| PURApurine rich element binding protein A | Czasami (5–29%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Czasami (5–29%) | W 1 chorobie |
| RPL10ribosomal protein L10 | Czasami (5–29%) | W 1 chorobie |
| RYR1ryanodine receptor 1 | Czasami (5–29%) | W 1 chorobie |
| SATB2SATB homeobox 2 | Czasami (5–29%) | W 3 chorobach |
| SELENONselenoprotein N | Czasami (5–29%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| SGCGsarcoglycan gamma | Czasami (5–29%) | W 1 chorobie |
| SLC4A10solute carrier family 4 member 10 | Czasami (5–29%) | W 1 chorobie |
| SLF2SMC5/6 complex localization factor 2 | Czasami (5–29%) | W 1 chorobie |
| SMC5structural maintenance of chromosomes 5 | Czasami (5–29%) | W 1 chorobie |
| SOX6SRY-box transcription factor 6 | Czasami (5–29%) | W 1 chorobie |
| SPEGstriated muscle enriched protein kinase | Czasami (5–29%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Czasami (5–29%) | W 1 chorobie |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Czasami (5–29%) | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Czasami (5–29%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Czasami (5–29%) | W 1 chorobie |
| TBCBtubulin folding cofactor B | Czasami (5–29%) | W 1 chorobie |
| TGFB3transforming growth factor beta 3 | Czasami (5–29%) | W 1 chorobie |
| TMEM147transmembrane protein 147 | Czasami (5–29%) | W 1 chorobie |
| TNNT1troponin T1, slow skeletal type | Czasami (5–29%) | W 1 chorobie |
| TONSLtonsoku like, DNA repair protein | Czasami (5–29%) | W 1 chorobie |
| TTC5tetratricopeptide repeat domain 5 | Czasami (5–29%) | W 1 chorobie |
| TTNtitin | Czasami (5–29%) | W 1 chorobie |
| VMA22vacuolar ATPase assembly factor VMA22 | Czasami (5–29%) | W 1 chorobie |
| WSB2WD repeat and SOCS box containing 2 | Czasami (5–29%) | W 1 chorobie |
| ZFXzinc finger protein X-linked | Czasami (5–29%) | W 1 chorobie |
| ACBD6acyl-CoA binding domain containing 6 | Rzadko (1–4%) | W 1 chorobie |
| CLCN4Cl-/H+ antiporter 4 | Rzadko (1–4%) | W 2 chorobach |
| CTCFCCCTC-binding factor | Rzadko (1–4%) | W 1 chorobie |
| MMACHCmetabolism of cobalamin associated C | Rzadko (1–4%) | W 2 chorobach |
| ASXL1ASXL transcriptional regulator 1 | Nie odnotowano | W 1 chorobie |
| ATP7AATPase copper transporting alpha | Nie odnotowano | W 1 chorobie |
| BCORBCL6 corepressor | Nie odnotowano | W 1 chorobie |
| C12orf57chromosome 12 open reading frame 57 | Nie odnotowano | W 1 chorobie |
| CCDC174coiled-coil domain containing 174 | Nie odnotowano | W 1 chorobie |
| CHRNEcholinergic receptor nicotinic epsilon subunit | Nie odnotowano | W 1 chorobie |
| COL3A1collagen type III alpha 1 chain | Nie odnotowano | W 1 chorobie |
| DDX3XDEAD-box helicase 3 X-linked | Nie odnotowano | W 1 chorobie |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Nie odnotowano | W 1 chorobie |
| FBN1fibrillin 1 | Nie odnotowano | W 1 chorobie |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Nie odnotowano | W 1 chorobie |
| GFPT1glutamine--fructose-6-phosphate transaminase 1 | Nie odnotowano | W 1 chorobie |
| MOCS1molybdenum cofactor synthesis 1 | Nie odnotowano | W 1 chorobie |
| MOCS2molybdenum cofactor synthesis 2 | Nie odnotowano | W 1 chorobie |
| MUSKmuscle associated receptor tyrosine kinase | Nie odnotowano | W 1 chorobie |
| NFIBnuclear factor I B | Nie odnotowano | W 1 chorobie |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Nie odnotowano | W 1 chorobie |
| OPHN1oligophrenin 1 | Nie odnotowano | W 1 chorobie |
| PBX1PBX homeobox 1 | Nie odnotowano | W 1 chorobie |
| PIGKphosphatidylinositol glycan anchor biosynthesis class K | Nie odnotowano | W 1 chorobie |
| POC1APOC1 centriolar protein A | Nie odnotowano | W 1 chorobie |
| PRDX1peroxiredoxin 1 | Nie odnotowano | W 1 chorobie |
| RAB39BRAB39B, member RAS oncogene family | Nie odnotowano | W 1 chorobie |
| RAPSNreceptor associated protein of the synapse | Nie odnotowano | W 1 chorobie |
| RECQL4RecQ like helicase 4 | Nie odnotowano | W 1 chorobie |
| SETD2SET domain containing 2, histone lysine methyltransferase | Nie odnotowano | W 1 chorobie |
| SIX1SIX homeobox 1 | Nie odnotowano | W 1 chorobie |
| SLC6A8solute carrier family 6 member 8 | Nie odnotowano | W 1 chorobie |
| SRCAPSnf2 related CREBBP activator protein | Nie odnotowano | W 1 chorobie |
| TCF20transcription factor 20 | Nie odnotowano | W 1 chorobie |
| TLK2tousled like kinase 2 | Nie odnotowano | W 1 chorobie |
| XRCC4X-ray repair cross complementing 4 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
Jeden test. Odpowiedzi na całe życie.
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