Træk
Abnormally small eyeball
Klinisk navn: Microphthalmia
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Resumé
- Også kaldet
- Decreased size of eyeball, Abnormally small globe of eye, Microphthalmos
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Abnormally small eyeball 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 |
|---|---|---|
| ALX1ALX homeobox 1 | Altid | I 2 tilstande |
| ARXaristaless related homeobox | Altid | I 1 tilstand |
| BCORBCL6 corepressor | Altid | I 4 tilstande |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Altid | I 2 tilstande |
| COX14cytochrome c oxidase assembly factor COX14 | Altid | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Altid | I 4 tilstande |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altid | I 4 tilstande |
| FAM111AFAM111 trypsin like peptidase A | Altid | I 2 tilstande |
| FKRPfukutin related protein | Altid | I 4 tilstande |
| FKTNfukutin | Altid | I 3 tilstande |
| GJA1gap junction protein alpha 1 | Altid | I 2 tilstande |
| GTF2H5general transcription factor IIH subunit 5 | Altid | I 1 tilstand |
| HMGB3high mobility group box 3 | Altid | I 1 tilstand |
| HMX1H6 family homeobox 1 | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KERAkeratocan | Altid | I 1 tilstand |
| KIF15kinesin family member 15 | Altid | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Altid | I 2 tilstande |
| MAPRE2microtubule associated protein RP/EB family member 2 | Altid | I 2 tilstande |
| MFRPmembrane frizzled-related protein | Altid | I 3 tilstande |
| MITFmelanocyte inducing transcription factor | Altid | I 1 tilstand |
| NAV3neuron navigator 3 | Altid | I 1 tilstand |
| NHEJ1non-homologous end joining factor 1 | Altid | I 1 tilstand |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Altid | I 1 tilstand |
| NUP188nucleoporin 188 | Altid | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Altid | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Altid | I 2 tilstande |
| POMT1protein O-mannosyltransferase 1 | Altid | I 3 tilstande |
| POMT2protein O-mannosyltransferase 2 | Altid | I 4 tilstande |
| PRIM1DNA primase subunit 1 | Altid | I 1 tilstand |
| PRSS56serine protease 56 | Altid | I 2 tilstande |
| RAB18RAB18, member RAS oncogene family | Altid | I 2 tilstande |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altid | I 3 tilstande |
| RAD51RAD51 recombinase | Altid | I 2 tilstande |
| RBBP8RB binding protein 8, endonuclease | Altid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Altid | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Altid | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Altid | I 2 tilstande |
| SIX6SIX homeobox 6 | Altid | I 3 tilstande |
| SNAPINSNAP associated protein | Altid | I 1 tilstand |
Vis 255 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Altid | I 1 tilstand |
| TBCEtubulin folding cofactor E | Altid | I 1 tilstand |
| TENM3teneurin transmembrane protein 3 | Altid | I 1 tilstand |
| TMEM98transmembrane protein 98 | Altid | I 2 tilstande |
| TOMM7translocase of outer mitochondrial membrane 7 | Altid | I 1 tilstand |
| VAX1ventral anterior homeobox 1 | Altid | I 1 tilstand |
| VSX2visual system homeobox 2 | Altid | I 2 tilstande |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Meget ofte (80–99 %) | I 2 tilstande |
| ATOH7atonal bHLH transcription factor 7 | Meget ofte (80–99 %) | I 2 tilstande |
| BEST1bestrophin 1 | Meget ofte (80–99 %) | I 2 tilstande |
| BMP4bone morphogenetic protein 4 | Meget ofte (80–99 %) | I 2 tilstande |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Meget ofte (80–99 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Meget ofte (80–99 %) | I 1 tilstand |
| BUB3BUB3 mitotic checkpoint protein | Meget ofte (80–99 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Meget ofte (80–99 %) | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Meget ofte (80–99 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Meget ofte (80–99 %) | I 2 tilstande |
| CRB1crumbs cell polarity complex component 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Meget ofte (80–99 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Meget ofte (80–99 %) | I 3 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| FOXE3forkhead box E3 | Meget ofte (80–99 %) | I 2 tilstande |
| FZD4frizzled class receptor 4 | Meget ofte (80–99 %) | I 2 tilstande |
| GDF6growth differentiation factor 6 | Meget ofte (80–99 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Meget ofte (80–99 %) | I 2 tilstande |
| HDAC6histone deacetylase 6 | Meget ofte (80–99 %) | I 2 tilstande |
| HRASHRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Meget ofte (80–99 %) | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Meget ofte (80–99 %) | I 2 tilstande |
| NDPnorrin cystine knot growth factor NDP | Meget ofte (80–99 %) | I 5 tilstande |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Meget ofte (80–99 %) | I 2 tilstande |
| NRASNRAS proto-oncogene, GTPase | Meget ofte (80–99 %) | I 1 tilstand |
| PTCH1patched 1 | Meget ofte (80–99 %) | I 3 tilstande |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| RAXretina and anterior neural fold homeobox | Meget ofte (80–99 %) | I 2 tilstande |
| SALL4spalt like transcription factor 4 | Meget ofte (80–99 %) | I 2 tilstande |
| SHHsonic hedgehog signaling molecule | Meget ofte (80–99 %) | I 2 tilstande |
| SMOC1SPARC related modular calcium binding 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SOX2SRY-box transcription factor 2 | Meget ofte (80–99 %) | I 3 tilstande |
| STRA6signaling receptor and transporter of retinol STRA6 | Meget ofte (80–99 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Meget ofte (80–99 %) | I 2 tilstande |
| TRIP13thyroid hormone receptor interactor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| WNT7BWnt family member 7B | Meget ofte (80–99 %) | I 1 tilstand |
| ALX3ALX homeobox 3 | Ofte (30–79 %) | I 2 tilstande |
| ALX4ALX homeobox 4 | Ofte (30–79 %) | I 2 tilstande |
| ARHGAP31Rho GTPase activating protein 31 | Ofte (30–79 %) | I 2 tilstande |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Ofte (30–79 %) | I 2 tilstande |
| B4GAT1beta-1,4-glucuronyltransferase 1 | 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 |
| BRIP1BRCA1 interacting DNA helicase 1 | Ofte (30–79 %) | I 2 tilstande |
| C12orf57chromosome 12 open reading frame 57 | Ofte (30–79 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 2 tilstande |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 2 tilstande |
| COL4A1collagen type IV alpha 1 chain | Ofte (30–79 %) | I 2 tilstande |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ofte (30–79 %) | I 2 tilstande |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 2 tilstande |
| DLL4delta like canonical Notch ligand 4 | Ofte (30–79 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Ofte (30–79 %) | I 1 tilstand |
| DOCK6dedicator of cytokinesis 6 | Ofte (30–79 %) | I 2 tilstande |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 3 tilstande |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Ofte (30–79 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Ofte (30–79 %) | I 2 tilstande |
| FANCD2FA complementation group D2 | Ofte (30–79 %) | I 2 tilstande |
| FANCFFA complementation group F | Ofte (30–79 %) | I 2 tilstande |
| FANCGFA complementation group G | Ofte (30–79 %) | I 2 tilstande |
| FANCIFA complementation group I | Ofte (30–79 %) | I 2 tilstande |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Ofte (30–79 %) | I 3 tilstande |
| GDF3growth differentiation factor 3 | Ofte (30–79 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 2 tilstande |
| GON4Lgon-4 like | Ofte (30–79 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| INTS1integrator complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| ITGAVintegrin subunit alpha V | Ofte (30–79 %) | I 1 tilstand |
| KIF14kinesin family member 14 | Ofte (30–79 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Ofte (30–79 %) | I 3 tilstande |
| MAB21L2mab-21 like 2 | Ofte (30–79 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Ofte (30–79 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ofte (30–79 %) | I 2 tilstande |
| NOTCH1notch receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ofte (30–79 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Ofte (30–79 %) | I 2 tilstande |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Ofte (30–79 %) | I 2 tilstande |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofte (30–79 %) | I 3 tilstande |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Ofte (30–79 %) | I 2 tilstande |
| POMKprotein O-mannose kinase | Ofte (30–79 %) | I 3 tilstande |
| PORCNporcupine O-acyltransferase | Ofte (30–79 %) | I 2 tilstande |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| RB1RB transcriptional corepressor 1 | Ofte (30–79 %) | I 1 tilstand |
| RBP4retinol binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RSPO2R-spondin 2 | Ofte (30–79 %) | I 1 tilstand |
| RXYLT1ribitol xylosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Ofte (30–79 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| SMOsmoothened, frizzled class receptor | Ofte (30–79 %) | I 2 tilstande |
| TBR1T-box brain transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| TCTN1tectonic family member 1 | Ofte (30–79 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Ofte (30–79 %) | I 2 tilstande |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ofte (30–79 %) | I 1 tilstand |
| TMEM107transmembrane protein 107 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 3 tilstande |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 2 tilstande |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 1 tilstand |
| TUBBtubulin beta class I | Ofte (30–79 %) | I 3 tilstande |
| TXNDC15thioredoxin domain containing 15 | Ofte (30–79 %) | I 2 tilstande |
| VPS35LVPS35 endosomal protein sorting factor like | Ofte (30–79 %) | I 1 tilstand |
| WDR37WD repeat domain 37 | Ofte (30–79 %) | I 1 tilstand |
| WNT3Wnt family member 3 | Ofte (30–79 %) | I 2 tilstande |
| XYLT2xylosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| YAP1Yes1 associated transcriptional regulator | Ofte (30–79 %) | I 2 tilstande |
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Nogle gange (5–29 %) | I 1 tilstand |
| ACTBactin beta | Nogle gange (5–29 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Nogle gange (5–29 %) | I 1 tilstand |
| ASPHaspartate beta-hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| ATN1atrophin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Nogle gange (5–29 %) | I 2 tilstande |
| BRCA2BRCA2 DNA repair associated | Nogle gange (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| CRYAAcrystallin alpha A | Nogle gange (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DACT1dishevelled binding antagonist of beta catenin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| FANCAFA complementation group A | Nogle gange (5–29 %) | I 2 tilstande |
| FANCBFA complementation group B | Nogle gange (5–29 %) | I 2 tilstande |
| FANCCFA complementation group C | Nogle gange (5–29 %) | I 2 tilstande |
| FANCEFA complementation group E | Nogle gange (5–29 %) | I 2 tilstande |
| FANCLFA complementation group L | Nogle gange (5–29 %) | I 2 tilstande |
| FANCMFA complementation group M | Nogle gange (5–29 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FGF3fibroblast growth factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXC2forkhead box C2 | Nogle gange (5–29 %) | I 1 tilstand |
| FREM1FRAS1 related extracellular matrix 1 | Nogle gange (5–29 %) | I 2 tilstande |
| FZD5frizzled class receptor 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Nogle gange (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Nogle gange (5–29 %) | I 2 tilstande |
| JAM3junctional adhesion molecule 3 | Nogle gange (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Nogle gange (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 2 tilstande |
| KIF7kinesin family member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Nogle gange (5–29 %) | I 2 tilstande |
| LAMB2laminin subunit beta 2 | Nogle gange (5–29 %) | I 2 tilstande |
| LMBRD2LMBR1 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Nogle gange (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Nogle gange (5–29 %) | I 2 tilstande |
| MPLKIPM-phase specific PLK1 interacting protein | Nogle gange (5–29 %) | I 1 tilstand |
| NHSNHS actin remodeling regulator | Nogle gange (5–29 %) | I 2 tilstande |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Nogle gange (5–29 %) | I 2 tilstande |
| PAX6paired box 6 | Nogle gange (5–29 %) | I 3 tilstande |
| PDGFRBplatelet derived growth factor receptor beta | Nogle gange (5–29 %) | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nogle gange (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1BRNA polymerase I subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Nogle gange (5–29 %) | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Nogle gange (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 2 tilstande |
| RFWD3ring finger and WD repeat domain 3 | Nogle gange (5–29 %) | I 1 tilstand |
| RHOAras homolog family member A | Nogle gange (5–29 %) | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Nogle gange (5–29 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC38A8solute carrier family 38 member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| SLC6A11solute carrier family 6 member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Nogle gange (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Nogle gange (5–29 %) | I 2 tilstande |
| TBX1T-box transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TKFCtriokinase and FMN cyclase | Nogle gange (5–29 %) | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM44TRIM family member 44 | Nogle gange (5–29 %) | I 1 tilstand |
| TSPAN12tetraspanin 12 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Nogle gange (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Nogle gange (5–29 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Nogle gange (5–29 %) | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Nogle gange (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Nogle gange (5–29 %) | I 3 tilstande |
| ZNF408zinc finger protein 408 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Nogle gange (5–29 %) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sjældent (1–4%) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Sjældent (1–4%) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Sjældent (1–4%) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sjældent (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjældent (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjældent (1–4%) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Sjældent (1–4%) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Sjældent (1–4%) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Sjældent (1–4%) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Sjældent (1–4%) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Sjældent (1–4%) | I 1 tilstand |
| RTTNrotatin | Sjældent (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjældent (1–4%) | I 1 tilstand |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Ikke registreret | I 1 tilstand |
| CENPFcentromere protein F | Ikke registreret | I 1 tilstand |
| CEP120centrosomal protein 120 | Ikke registreret | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Ikke registreret | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Ikke registreret | I 1 tilstand |
| FOXL2forkhead box L2 | Ikke registreret | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ikke registreret | I 1 tilstand |
| INTUinturned planar cell polarity protein | Ikke registreret | I 1 tilstand |
| PAX2paired box 2 | Ikke registreret | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registreret | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registreret | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PITX3paired like homeodomain 3 | Ikke registreret | I 1 tilstand |
| PLK4polo like kinase 4 | Ikke registreret | I 1 tilstand |
| RARBretinoic acid receptor beta | Ikke registreret | I 1 tilstand |
| SF3B2splicing factor 3b subunit 2 | Ikke registreret | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ikke registreret | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registreret | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ikke registreret | I 1 tilstand |
| SYCE1synaptonemal complex central element protein 1 | Ikke registreret | I 1 tilstand |
| TBX15T-box transcription factor 15 | Ikke registreret | I 1 tilstand |
| TUBGCP4tubulin gamma complex component 4 | Ikke registreret | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ikke registreret | I 1 tilstand |
| WDR73WD repeat domain 73 | 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.
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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