Egenskap
Corners of eye widely separated
Klinisk navn: Telecanthus
Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Sammendrag
- Også kalt
- Dystopia canthorum, Increased distance between medial canthi, Increased inner canthal distance, Increased intercanthal distance
- 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 Test185 gener knyttet til Corners of eye widely separated
Endringer i disse genene forårsaker sjeldne tilstander der Corners of eye widely separated 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 |
|---|---|---|
| ADAMTS18ADAM metallopeptidase with thrombospondin type 1 motif 18 | Alltid | I 1 tilstand |
| AGO1argonaute RISC component 1 | Alltid | I 1 tilstand |
| ALX4ALX homeobox 4 | Alltid | I 2 tilstander |
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| ANKHANKH inorganic pyrophosphate transport regulator | Alltid | I 2 tilstander |
| BRD4bromodomain containing 4 | Alltid | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Alltid | I 2 tilstander |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Alltid | I 1 tilstand |
| DSEdermatan sulfate epimerase | Alltid | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Alltid | I 1 tilstand |
| ESAMendothelial cell adhesion molecule | Alltid | I 1 tilstand |
| EXOSC1exosome component 1 | Alltid | I 1 tilstand |
| FOXL2forkhead box L2 | Alltid | I 2 tilstander |
| GPRASP2G protein-coupled receptor associated sorting protein 2 | Alltid | I 1 tilstand |
| H1-4H1.4 linker histone, cluster member | Alltid | I 1 tilstand |
| IFT122intraflagellar transport 122 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 1 tilstand |
| IFT52intraflagellar transport 52 | Alltid | I 1 tilstand |
| IRX5iroquois homeobox 5 | Alltid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| KITLGKIT ligand | Alltid | I 2 tilstander |
| KMT2Dlysine methyltransferase 2D | Alltid | I 1 tilstand |
| MID1midline 1 | Alltid | I 2 tilstander |
| MYOD1myogenic differentiation 1 | Alltid | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Alltid | I 1 tilstand |
| PAX3paired box 3 | Alltid | I 5 tilstander |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Alltid | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Alltid | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Alltid | I 2 tilstander |
| UBE3Bubiquitin protein ligase E3B | Alltid | I 2 tilstander |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Alltid | I 2 tilstander |
| WDR35WD repeat domain 35 | Alltid | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Alltid | I 1 tilstand |
| ZSWIM6zinc finger SWIM-type containing 6 | Alltid | I 2 tilstander |
| ACTBactin beta | Svært ofte (80–99 %) | I 2 tilstander |
| ACTG1actin gamma 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ARVCFARVCF delta catenin family member | Svært ofte (80–99 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Svært ofte (80–99 %) | I 1 tilstand |
Vis 145 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| BRPF1bromodomain and PHD finger containing 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CDH11cadherin 11 | Svært ofte (80–99 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Svært ofte (80–99 %) | I 1 tilstand |
| FBN1fibrillin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| GP1BBglycoprotein Ib platelet subunit beta | Svært ofte (80–99 %) | I 1 tilstand |
| HHAThedgehog acyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Svært ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Svært ofte (80–99 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| LMNAlamin A/C | Svært ofte (80–99 %) | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Svært ofte (80–99 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Svært ofte (80–99 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Svært ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Svært ofte (80–99 %) | I 2 tilstander |
| SOX10SRY-box transcription factor 10 | Svært ofte (80–99 %) | I 3 tilstander |
| TBX1T-box transcription factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Svært ofte (80–99 %) | I 2 tilstander |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Svært ofte (80–99 %) | I 1 tilstand |
| XPO1exportin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Svært ofte (80–99 %) | I 1 tilstand |
| ADAMTS2ADAM metallopeptidase with thrombospondin type 1 motif 2 | Ofte (30–79 %) | I 1 tilstand |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Ofte (30–79 %) | I 1 tilstand |
| AKT3AKT serine/threonine kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Ofte (30–79 %) | I 2 tilstander |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Ofte (30–79 %) | I 2 tilstander |
| ATRXATRX chromatin remodeler | Ofte (30–79 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Ofte (30–79 %) | I 1 tilstand |
| CCND2cyclin D2 | Ofte (30–79 %) | I 1 tilstand |
| CCNQcyclin Q | Ofte (30–79 %) | I 2 tilstander |
| CDK10cyclin dependent kinase 10 | Ofte (30–79 %) | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Ofte (30–79 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ofte (30–79 %) | I 1 tilstand |
| COLEC10collectin subfamily member 10 | Ofte (30–79 %) | I 1 tilstand |
| COLEC11collectin subfamily member 11 | Ofte (30–79 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 2 tilstander |
| DOCK7dedicator of cytokinesis 7 | Ofte (30–79 %) | I 2 tilstander |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 1 tilstand |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Ofte (30–79 %) | I 2 tilstander |
| FLNAfilamin A | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 3 tilstander |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Ofte (30–79 %) | I 1 tilstand |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| KCTD1potassium channel tetramerization domain containing 1 | Ofte (30–79 %) | I 2 tilstander |
| LIG4DNA ligase 4 | Ofte (30–79 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Ofte (30–79 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Ofte (30–79 %) | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Ofte (30–79 %) | I 2 tilstander |
| MSL3MSL complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Ofte (30–79 %) | I 2 tilstander |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 2 tilstander |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Ofte (30–79 %) | I 2 tilstander |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Ofte (30–79 %) | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Ofte (30–79 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PURApurine rich element binding protein A | Ofte (30–79 %) | I 3 tilstander |
| SPOPspeckle type BTB/POZ protein | Ofte (30–79 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ofte (30–79 %) | I 2 tilstander |
| TRAF7TNF receptor associated factor 7 | Ofte (30–79 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 2 tilstander |
| ACBD6acyl-CoA binding domain containing 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Noen ganger (5–29 %) | I 2 tilstander |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 1 tilstand |
| CDH2cadherin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CDK13cyclin dependent kinase 13 | Noen ganger (5–29 %) | I 1 tilstand |
| DDB1damage specific DNA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 1 tilstand |
| EDN3endothelin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EDNRBendothelin receptor type B | Noen ganger (5–29 %) | I 2 tilstander |
| FEM1Bfem-1 homolog B | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FLNBfilamin B | Noen ganger (5–29 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Noen ganger (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KAT8lysine acetyltransferase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Noen ganger (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Noen ganger (5–29 %) | I 1 tilstand |
| MITFmelanocyte inducing transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Noen ganger (5–29 %) | I 2 tilstander |
| OTUD5OTU deubiquitinase 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PITX2paired like homeodomain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PTCH1patched 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PTCH2patched 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF125ring finger protein 125 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SNAI2snail family transcriptional repressor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Noen ganger (5–29 %) | I 1 tilstand |
| SUFUSUFU negative regulator of hedgehog signaling | Noen ganger (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TYRtyrosinase | Noen ganger (5–29 %) | I 1 tilstand |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF148zinc finger protein 148 | Noen ganger (5–29 %) | I 1 tilstand |
| AFG2BAAA ATPase AFG2B | Sjelden (1–4%) | I 1 tilstand |
| COL18A1collagen type XVIII alpha 1 chain | Sjelden (1–4%) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Sjelden (1–4%) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Sjelden (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjelden (1–4%) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Ikke registrert | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Ikke registrert | I 1 tilstand |
| DDHD2DDHD domain containing 2 | Ikke registrert | I 1 tilstand |
| EFNB1ephrin B1 | Ikke registrert | I 1 tilstand |
| ETFAelectron transfer flavoprotein subunit alpha | Ikke registrert | I 1 tilstand |
| ETFBelectron transfer flavoprotein subunit beta | Ikke registrert | I 1 tilstand |
| ETFDHelectron transfer flavoprotein dehydrogenase | Ikke registrert | I 1 tilstand |
| HDAC8histone deacetylase 8 | Ikke registrert | I 1 tilstand |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ikke registrert | I 1 tilstand |
| KIFBPkinesin family binding protein | Ikke registrert | I 1 tilstand |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ikke registrert | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registrert | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| RPS6KA3ribosomal protein S6 kinase A3 | Ikke registrert | I 1 tilstand |
| STAC3SH3 and cysteine rich domain 3 | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Ikke registrert | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registrert | I 1 tilstand |
| TLK2tousled like kinase 2 | 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.
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