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Kenmerk
Abnormally small eyeball
Klinische naam: Microphthalmia
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Samenvatting
- Ook bekend als
- Decreased size of eyeball, Abnormally small globe of eye, Microphthalmos
- Lichaamssysteem
- Abnormality of the eye
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Deze pagina als gegevens
Voeg .json toe aan het adres van de pagina, of vraag application/json aan, om haar als JSON te lezen.
library(jsonlite)
url <- "https://dantelabs.com/traits/microphthalmia.json"
page <- fromJSON(url)
page$trait$nameAbnormally small eyeballHP:0000568
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Lees de genen die aan Abnormally small eyeball gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen295 genen gekoppeld aan Abnormally small eyeball
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Abnormally small eyeball voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ALX1ALX homeobox 1 | Altijd | In 2 aandoeningen |
| ARXaristaless related homeobox | Altijd | In 1 aandoening |
| BCORBCL6 corepressor | Altijd | In 4 aandoeningen |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Altijd | In 2 aandoeningen |
| COX14cytochrome c oxidase assembly factor COX14 | Altijd | In 1 aandoening |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Altijd | In 4 aandoeningen |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altijd | In 4 aandoeningen |
| FAM111AFAM111 trypsin like peptidase A | Altijd | In 2 aandoeningen |
| FKRPfukutin related protein | Altijd | In 4 aandoeningen |
| FKTNfukutin | Altijd | In 3 aandoeningen |
| GJA1gap junction protein alpha 1 | Altijd | In 2 aandoeningen |
| GTF2H5general transcription factor IIH subunit 5 | Altijd | In 1 aandoening |
| HMGB3high mobility group box 3 | Altijd | In 1 aandoening |
| HMX1H6 family homeobox 1 | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KERAkeratocan | Altijd | In 1 aandoening |
| KIF15kinesin family member 15 | Altijd | In 1 aandoening |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Altijd | In 2 aandoeningen |
| MAPRE2microtubule associated protein RP/EB family member 2 | Altijd | In 2 aandoeningen |
| MFRPmembrane frizzled-related protein | Altijd | In 3 aandoeningen |
| MITFmelanocyte inducing transcription factor | Altijd | In 1 aandoening |
| NAV3neuron navigator 3 | Altijd | In 1 aandoening |
| NHEJ1non-homologous end joining factor 1 | Altijd | In 1 aandoening |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Altijd | In 1 aandoening |
| NUP188nucleoporin 188 | Altijd | In 1 aandoening |
| OSGEPO-sialoglycoprotein endopeptidase | Altijd | In 1 aandoening |
| OTX2orthodenticle homeobox 2 | Altijd | In 2 aandoeningen |
| POMT1protein O-mannosyltransferase 1 | Altijd | In 3 aandoeningen |
| POMT2protein O-mannosyltransferase 2 | Altijd | In 4 aandoeningen |
| PRIM1DNA primase subunit 1 | Altijd | In 1 aandoening |
| PRSS56serine protease 56 | Altijd | In 2 aandoeningen |
| RAB18RAB18, member RAS oncogene family | Altijd | In 2 aandoeningen |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altijd | In 3 aandoeningen |
| RAD51RAD51 recombinase | Altijd | In 2 aandoeningen |
| RBBP8RB binding protein 8, endonuclease | Altijd | In 1 aandoening |
| RBSNrabenosyn, RAB effector | Altijd | In 1 aandoening |
| RECQL4RecQ like helicase 4 | Altijd | In 1 aandoening |
| RPGRIP1LRPGRIP1 like | Altijd | In 2 aandoeningen |
| SIX6SIX homeobox 6 | Altijd | In 3 aandoeningen |
| SNAPINSNAP associated protein | Altijd | In 1 aandoening |
Toon nog 255 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Altijd | In 1 aandoening |
| TBCEtubulin folding cofactor E | Altijd | In 1 aandoening |
| TENM3teneurin transmembrane protein 3 | Altijd | In 1 aandoening |
| TMEM98transmembrane protein 98 | Altijd | In 2 aandoeningen |
| TOMM7translocase of outer mitochondrial membrane 7 | Altijd | In 1 aandoening |
| VAX1ventral anterior homeobox 1 | Altijd | In 1 aandoening |
| VSX2visual system homeobox 2 | Altijd | In 2 aandoeningen |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Heel vaak (80–99%) | In 2 aandoeningen |
| ATOH7atonal bHLH transcription factor 7 | Heel vaak (80–99%) | In 2 aandoeningen |
| BEST1bestrophin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| BMP4bone morphogenetic protein 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Heel vaak (80–99%) | In 1 aandoening |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Heel vaak (80–99%) | In 1 aandoening |
| BUB3BUB3 mitotic checkpoint protein | Heel vaak (80–99%) | In 1 aandoening |
| CEP57centrosomal protein 57 | Heel vaak (80–99%) | In 1 aandoening |
| CHD6chromodomain helicase DNA binding protein 6 | Heel vaak (80–99%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Heel vaak (80–99%) | In 2 aandoeningen |
| CRB1crumbs cell polarity complex component 1 | Heel vaak (80–99%) | In 1 aandoening |
| CTDP1CTD phosphatase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Heel vaak (80–99%) | In 1 aandoening |
| ERCC5ERCC excision repair 5, endonuclease | Heel vaak (80–99%) | In 3 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| FOXE3forkhead box E3 | Heel vaak (80–99%) | In 2 aandoeningen |
| FZD4frizzled class receptor 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| GDF6growth differentiation factor 6 | Heel vaak (80–99%) | In 1 aandoening |
| HCCSholocytochrome c synthase | Heel vaak (80–99%) | In 2 aandoeningen |
| HDAC6histone deacetylase 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| HRASHRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Heel vaak (80–99%) | In 2 aandoeningen |
| KRASKRas proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Heel vaak (80–99%) | In 2 aandoeningen |
| NDPnorrin cystine knot growth factor NDP | Heel vaak (80–99%) | In 5 aandoeningen |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Heel vaak (80–99%) | In 2 aandoeningen |
| NRASNRAS proto-oncogene, GTPase | Heel vaak (80–99%) | In 1 aandoening |
| PTCH1patched 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| RAXretina and anterior neural fold homeobox | Heel vaak (80–99%) | In 2 aandoeningen |
| SALL4spalt like transcription factor 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| SHHsonic hedgehog signaling molecule | Heel vaak (80–99%) | In 2 aandoeningen |
| SMOC1SPARC related modular calcium binding 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| SOX2SRY-box transcription factor 2 | Heel vaak (80–99%) | In 3 aandoeningen |
| STRA6signaling receptor and transporter of retinol STRA6 | Heel vaak (80–99%) | In 1 aandoening |
| TBC1D20TBC1 domain family member 20 | Heel vaak (80–99%) | In 2 aandoeningen |
| TRIP13thyroid hormone receptor interactor 13 | Heel vaak (80–99%) | In 1 aandoening |
| WNT7BWnt family member 7B | Heel vaak (80–99%) | In 1 aandoening |
| ALX3ALX homeobox 3 | Vaak (30–79%) | In 2 aandoeningen |
| ALX4ALX homeobox 4 | Vaak (30–79%) | In 2 aandoeningen |
| ARHGAP31Rho GTPase activating protein 31 | Vaak (30–79%) | In 2 aandoeningen |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Vaak (30–79%) | In 2 aandoeningen |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| B9D1B9 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| B9D2B9 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| BRIP1BRCA1 interacting DNA helicase 1 | Vaak (30–79%) | In 2 aandoeningen |
| C12orf57chromosome 12 open reading frame 57 | Vaak (30–79%) | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Vaak (30–79%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Vaak (30–79%) | In 2 aandoeningen |
| CHD7chromodomain helicase DNA binding protein 7 | Vaak (30–79%) | In 2 aandoeningen |
| COL4A1collagen type IV alpha 1 chain | Vaak (30–79%) | In 2 aandoeningen |
| CRPPACDP-L-ribitol pyrophosphorylase A | Vaak (30–79%) | In 2 aandoeningen |
| CSPP1centrosome and spindle pole associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| DAG1dystroglycan 1 | Vaak (30–79%) | In 2 aandoeningen |
| DLL4delta like canonical Notch ligand 4 | Vaak (30–79%) | In 1 aandoening |
| DNA2DNA replication helicase/nuclease 2 | Vaak (30–79%) | In 1 aandoening |
| DOCK6dedicator of cytokinesis 6 | Vaak (30–79%) | In 2 aandoeningen |
| EBPEBP cholestenol delta-isomerase | Vaak (30–79%) | In 3 aandoeningen |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Vaak (30–79%) | In 1 aandoening |
| FAAP100FA core complex associated protein 100 | Vaak (30–79%) | In 2 aandoeningen |
| FANCD2FA complementation group D2 | Vaak (30–79%) | In 2 aandoeningen |
| FANCFFA complementation group F | Vaak (30–79%) | In 2 aandoeningen |
| FANCGFA complementation group G | Vaak (30–79%) | In 2 aandoeningen |
| FANCIFA complementation group I | Vaak (30–79%) | In 2 aandoeningen |
| FRAS1Fraser extracellular matrix complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| FREM2FRAS1 related extracellular matrix 2 | Vaak (30–79%) | In 3 aandoeningen |
| GDF3growth differentiation factor 3 | Vaak (30–79%) | In 1 aandoening |
| GLI3GLI family zinc finger 3 | Vaak (30–79%) | In 2 aandoeningen |
| GON4Lgon-4 like | Vaak (30–79%) | In 1 aandoening |
| GRIP1glutamate receptor interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| INTS1integrator complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| ITGAVintegrin subunit alpha V | Vaak (30–79%) | In 1 aandoening |
| KIF14kinesin family member 14 | Vaak (30–79%) | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Vaak (30–79%) | In 3 aandoeningen |
| MAB21L2mab-21 like 2 | Vaak (30–79%) | In 1 aandoening |
| MAXMYC associated transcriptional regulator X | Vaak (30–79%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Vaak (30–79%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Vaak (30–79%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| NOTCH1notch receptor 1 | Vaak (30–79%) | In 1 aandoening |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Vaak (30–79%) | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Vaak (30–79%) | In 2 aandoeningen |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Vaak (30–79%) | In 2 aandoeningen |
| PDE6Dphosphodiesterase 6D | Vaak (30–79%) | In 1 aandoening |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Vaak (30–79%) | In 3 aandoeningen |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Vaak (30–79%) | In 2 aandoeningen |
| POMKprotein O-mannose kinase | Vaak (30–79%) | In 3 aandoeningen |
| PORCNporcupine O-acyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| PRR12proline rich 12 | Vaak (30–79%) | In 1 aandoening |
| RB1RB transcriptional corepressor 1 | Vaak (30–79%) | In 1 aandoening |
| RBP4retinol binding protein 4 | Vaak (30–79%) | In 1 aandoening |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Vaak (30–79%) | In 1 aandoening |
| RPGRIP1RPGR interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| RSPO2R-spondin 2 | Vaak (30–79%) | In 1 aandoening |
| RXYLT1ribitol xylosyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| SEMA3Esemaphorin 3E | Vaak (30–79%) | In 1 aandoening |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Vaak (30–79%) | In 2 aandoeningen |
| SMOsmoothened, frizzled class receptor | Vaak (30–79%) | In 2 aandoeningen |
| TBR1T-box brain transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| TBX4T-box transcription factor 4 | Vaak (30–79%) | In 1 aandoening |
| TCTN1tectonic family member 1 | Vaak (30–79%) | In 1 aandoening |
| TCTN2tectonic family member 2 | Vaak (30–79%) | In 2 aandoeningen |
| TCTN3tectonic family member 3 | Vaak (30–79%) | In 1 aandoening |
| TFAP2Atranscription factor AP-2 alpha | Vaak (30–79%) | In 1 aandoening |
| TMEM107transmembrane protein 107 | Vaak (30–79%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Vaak (30–79%) | In 3 aandoeningen |
| TMEM231transmembrane protein 231 | Vaak (30–79%) | In 1 aandoening |
| TMEM237transmembrane protein 237 | Vaak (30–79%) | In 2 aandoeningen |
| TMEM67transmembrane protein 67 | Vaak (30–79%) | In 1 aandoening |
| TUBBtubulin beta class I | Vaak (30–79%) | In 3 aandoeningen |
| TXNDC15thioredoxin domain containing 15 | Vaak (30–79%) | In 2 aandoeningen |
| VPS35LVPS35 endosomal protein sorting factor like | Vaak (30–79%) | In 1 aandoening |
| WDR37WD repeat domain 37 | Vaak (30–79%) | In 1 aandoening |
| WNT3Wnt family member 3 | Vaak (30–79%) | In 2 aandoeningen |
| XYLT2xylosyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| YAP1Yes1 associated transcriptional regulator | Vaak (30–79%) | In 2 aandoeningen |
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Soms (5–29%) | In 1 aandoening |
| ACTBactin beta | Soms (5–29%) | In 1 aandoening |
| ACTG1actin gamma 1 | Soms (5–29%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Soms (5–29%) | In 1 aandoening |
| ASPHaspartate beta-hydroxylase | Soms (5–29%) | In 1 aandoening |
| ATN1atrophin 1 | Soms (5–29%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 2 aandoeningen |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| COMTcatechol-O-methyltransferase | Soms (5–29%) | In 1 aandoening |
| CRYAAcrystallin alpha A | Soms (5–29%) | In 1 aandoening |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 1 aandoening |
| DACT1dishevelled binding antagonist of beta catenin 1 | Soms (5–29%) | In 1 aandoening |
| DKC1dyskerin pseudouridine synthase 1 | Soms (5–29%) | In 1 aandoening |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Soms (5–29%) | In 1 aandoening |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Soms (5–29%) | In 2 aandoeningen |
| FANCAFA complementation group A | Soms (5–29%) | In 2 aandoeningen |
| FANCBFA complementation group B | Soms (5–29%) | In 2 aandoeningen |
| FANCCFA complementation group C | Soms (5–29%) | In 2 aandoeningen |
| FANCEFA complementation group E | Soms (5–29%) | In 2 aandoeningen |
| FANCLFA complementation group L | Soms (5–29%) | In 2 aandoeningen |
| FANCMFA complementation group M | Soms (5–29%) | In 1 aandoening |
| FBXW11F-box and WD repeat domain containing 11 | Soms (5–29%) | In 1 aandoening |
| FGF3fibroblast growth factor 3 | Soms (5–29%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Soms (5–29%) | In 1 aandoening |
| FOXC1forkhead box C1 | Soms (5–29%) | In 1 aandoening |
| FOXC2forkhead box C2 | Soms (5–29%) | In 1 aandoening |
| FREM1FRAS1 related extracellular matrix 1 | Soms (5–29%) | In 2 aandoeningen |
| FZD5frizzled class receptor 5 | Soms (5–29%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Soms (5–29%) | In 1 aandoening |
| HIRAhistone cell cycle regulator | Soms (5–29%) | In 1 aandoening |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Soms (5–29%) | In 2 aandoeningen |
| JAM3junctional adhesion molecule 3 | Soms (5–29%) | In 1 aandoening |
| JARID2jumonji and AT-rich interaction domain containing 2 | Soms (5–29%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Soms (5–29%) | In 1 aandoening |
| KIF11kinesin family member 11 | Soms (5–29%) | In 2 aandoeningen |
| KIF7kinesin family member 7 | Soms (5–29%) | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Soms (5–29%) | In 2 aandoeningen |
| LAMB2laminin subunit beta 2 | Soms (5–29%) | In 2 aandoeningen |
| LMBRD2LMBR1 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MED16mediator complex subunit 16 | Soms (5–29%) | In 1 aandoening |
| MED25mediator complex subunit 25 | Soms (5–29%) | In 2 aandoeningen |
| MPLKIPM-phase specific PLK1 interacting protein | Soms (5–29%) | In 1 aandoening |
| NHSNHS actin remodeling regulator | Soms (5–29%) | In 2 aandoeningen |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Soms (5–29%) | In 2 aandoeningen |
| PAX6paired box 6 | Soms (5–29%) | In 3 aandoeningen |
| PDGFRBplatelet derived growth factor receptor beta | Soms (5–29%) | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Soms (5–29%) | In 1 aandoening |
| PHYHphytanoyl-CoA 2-hydroxylase | Soms (5–29%) | In 1 aandoening |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Soms (5–29%) | In 1 aandoening |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Soms (5–29%) | In 1 aandoening |
| POLR1BRNA polymerase I subunit B | Soms (5–29%) | In 1 aandoening |
| POLR1CRNA polymerase I and III subunit C | Soms (5–29%) | In 1 aandoening |
| POLR1DRNA polymerase I and III subunit D | Soms (5–29%) | In 1 aandoening |
| PQBP1polyglutamine binding protein 1 | Soms (5–29%) | In 1 aandoening |
| PUF60poly(U) binding splicing factor 60 | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 2 aandoeningen |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| RHOAras homolog family member A | Soms (5–29%) | In 1 aandoening |
| RIPK4receptor interacting serine/threonine kinase 4 | Soms (5–29%) | In 1 aandoening |
| RREB1ras responsive element binding protein 1 | Soms (5–29%) | In 1 aandoening |
| SALL1spalt like transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Soms (5–29%) | In 1 aandoening |
| SIX3SIX homeobox 3 | Soms (5–29%) | In 1 aandoening |
| SLC38A8solute carrier family 38 member 8 | Soms (5–29%) | In 1 aandoening |
| SLC6A1solute carrier family 6 member 1 | Soms (5–29%) | In 2 aandoeningen |
| SLC6A11solute carrier family 6 member 11 | Soms (5–29%) | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 1 aandoening |
| SMAD4SMAD family member 4 | Soms (5–29%) | In 1 aandoening |
| SMC5structural maintenance of chromosomes 5 | Soms (5–29%) | In 1 aandoening |
| SPOUT1SPOUT domain containing methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| SRD5A3steroid 5 alpha-reductase 3 | Soms (5–29%) | In 1 aandoening |
| TBC1D32TBC1 domain family member 32 | Soms (5–29%) | In 1 aandoening |
| TBL1XR1TBL1X/Y related 1 | Soms (5–29%) | In 2 aandoeningen |
| TBX1T-box transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| TCOF1treacle ribosome biogenesis factor 1 | Soms (5–29%) | In 1 aandoening |
| TKFCtriokinase and FMN cyclase | Soms (5–29%) | In 1 aandoening |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Soms (5–29%) | In 1 aandoening |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Soms (5–29%) | In 1 aandoening |
| TRIM44TRIM family member 44 | Soms (5–29%) | In 1 aandoening |
| TSPAN12tetraspanin 12 | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Soms (5–29%) | In 1 aandoening |
| VAC14VAC14 component of PIKFYVE complex | Soms (5–29%) | In 1 aandoening |
| VPS13Bvacuolar protein sorting 13 homolog B | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| ZEB2zinc finger E-box binding homeobox 2 | Soms (5–29%) | In 3 aandoeningen |
| ZNF408zinc finger protein 408 | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Soms (5–29%) | In 1 aandoening |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Zelden (1–4%) | In 1 aandoening |
| CHD2chromodomain helicase DNA binding protein 2 | Zelden (1–4%) | In 1 aandoening |
| DPYDdihydropyrimidine dehydrogenase | Zelden (1–4%) | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Zelden (1–4%) | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Zelden (1–4%) | In 1 aandoening |
| GJA8gap junction protein alpha 8 | Zelden (1–4%) | In 1 aandoening |
| GMPPBGDP-mannose pyrophosphorylase B | Zelden (1–4%) | In 1 aandoening |
| KDM6Alysine demethylase 6A | Zelden (1–4%) | In 1 aandoening |
| MARK2microtubule affinity regulating kinase 2 | Zelden (1–4%) | In 1 aandoening |
| MSL2MSL complex subunit 2 | Zelden (1–4%) | In 1 aandoening |
| MT-CYBmitochondrially encoded cytochrome b | Zelden (1–4%) | In 1 aandoening |
| NEXMIFneurite extension and migration factor | Zelden (1–4%) | In 1 aandoening |
| RTTNrotatin | Zelden (1–4%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Zelden (1–4%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Zelden (1–4%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Zelden (1–4%) | In 1 aandoening |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Niet vastgelegd | In 1 aandoening |
| CENPFcentromere protein F | Niet vastgelegd | In 1 aandoening |
| CEP120centrosomal protein 120 | Niet vastgelegd | In 1 aandoening |
| DONSONDNA replication fork stabilization factor DONSON | Niet vastgelegd | In 1 aandoening |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Niet vastgelegd | In 1 aandoening |
| FOXL2forkhead box L2 | Niet vastgelegd | In 1 aandoening |
| GLI2GLI family zinc finger 2 | Niet vastgelegd | In 1 aandoening |
| INTUinturned planar cell polarity protein | Niet vastgelegd | In 1 aandoening |
| PAX2paired box 2 | Niet vastgelegd | In 1 aandoening |
| PHGDHphosphoglycerate dehydrogenase | Niet vastgelegd | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Niet vastgelegd | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Niet vastgelegd | In 1 aandoening |
| PITX3paired like homeodomain 3 | Niet vastgelegd | In 1 aandoening |
| PLK4polo like kinase 4 | Niet vastgelegd | In 1 aandoening |
| RARBretinoic acid receptor beta | Niet vastgelegd | In 1 aandoening |
| SF3B2splicing factor 3b subunit 2 | Niet vastgelegd | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Niet vastgelegd | In 1 aandoening |
| SLC25A24solute carrier family 25 member 24 | Niet vastgelegd | In 1 aandoening |
| SMG9SMG9 nonsense mediated mRNA decay factor | Niet vastgelegd | In 1 aandoening |
| SYCE1synaptonemal complex central element protein 1 | Niet vastgelegd | In 1 aandoening |
| TBX15T-box transcription factor 15 | Niet vastgelegd | In 1 aandoening |
| TUBGCP4tubulin gamma complex component 4 | Niet vastgelegd | In 1 aandoening |
| TUBGCP6tubulin gamma complex component 6 | Niet vastgelegd | In 1 aandoening |
| WDR73WD repeat domain 73 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.17-8666dff2.
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