Cecha
Abnormally small eyeball
Nazwa kliniczna: Microphthalmia
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Podsumowanie
- Znana także jako
- Decreased size of eyeball, Abnormally small globe of eye, Microphthalmos
- Układ organizmu
- Abnormality of the eye
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test295 genów powiązanych z Abnormally small eyeball
Zmiany w tych genach powodują rzadkie choroby, w których występuje Abnormally small eyeball. 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 |
|---|---|---|
| ALX1ALX homeobox 1 | Zawsze | W 2 chorobach |
| ARXaristaless related homeobox | Zawsze | W 1 chorobie |
| BCORBCL6 corepressor | Zawsze | W 4 chorobach |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Zawsze | W 2 chorobach |
| COX14cytochrome c oxidase assembly factor COX14 | Zawsze | W 1 chorobie |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Zawsze | W 4 chorobach |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Zawsze | W 4 chorobach |
| FAM111AFAM111 trypsin like peptidase A | Zawsze | W 2 chorobach |
| FKRPfukutin related protein | Zawsze | W 4 chorobach |
| FKTNfukutin | Zawsze | W 3 chorobach |
| GJA1gap junction protein alpha 1 | Zawsze | W 2 chorobach |
| GTF2H5general transcription factor IIH subunit 5 | Zawsze | W 1 chorobie |
| HMGB3high mobility group box 3 | Zawsze | W 1 chorobie |
| HMX1H6 family homeobox 1 | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KERAkeratocan | Zawsze | W 1 chorobie |
| KIF15kinesin family member 15 | Zawsze | W 1 chorobie |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Zawsze | W 2 chorobach |
| MAPRE2microtubule associated protein RP/EB family member 2 | Zawsze | W 2 chorobach |
| MFRPmembrane frizzled-related protein | Zawsze | W 3 chorobach |
| MITFmelanocyte inducing transcription factor | Zawsze | W 1 chorobie |
| NAV3neuron navigator 3 | Zawsze | W 1 chorobie |
| NHEJ1non-homologous end joining factor 1 | Zawsze | W 1 chorobie |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Zawsze | W 1 chorobie |
| NUP188nucleoporin 188 | Zawsze | W 1 chorobie |
| OSGEPO-sialoglycoprotein endopeptidase | Zawsze | W 1 chorobie |
| OTX2orthodenticle homeobox 2 | Zawsze | W 2 chorobach |
| POMT1protein O-mannosyltransferase 1 | Zawsze | W 3 chorobach |
| POMT2protein O-mannosyltransferase 2 | Zawsze | W 4 chorobach |
| PRIM1DNA primase subunit 1 | Zawsze | W 1 chorobie |
| PRSS56serine protease 56 | Zawsze | W 2 chorobach |
| RAB18RAB18, member RAS oncogene family | Zawsze | W 2 chorobach |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Zawsze | W 3 chorobach |
| RAD51RAD51 recombinase | Zawsze | W 2 chorobach |
| RBBP8RB binding protein 8, endonuclease | Zawsze | W 1 chorobie |
| RBSNrabenosyn, RAB effector | Zawsze | W 1 chorobie |
| RECQL4RecQ like helicase 4 | Zawsze | W 1 chorobie |
| RPGRIP1LRPGRIP1 like | Zawsze | W 2 chorobach |
| SIX6SIX homeobox 6 | Zawsze | W 3 chorobach |
| SNAPINSNAP associated protein | Zawsze | W 1 chorobie |
Pokaż jeszcze 255 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Zawsze | W 1 chorobie |
| TBCEtubulin folding cofactor E | Zawsze | W 1 chorobie |
| TENM3teneurin transmembrane protein 3 | Zawsze | W 1 chorobie |
| TMEM98transmembrane protein 98 | Zawsze | W 2 chorobach |
| TOMM7translocase of outer mitochondrial membrane 7 | Zawsze | W 1 chorobie |
| VAX1ventral anterior homeobox 1 | Zawsze | W 1 chorobie |
| VSX2visual system homeobox 2 | Zawsze | W 2 chorobach |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Bardzo często (80–99%) | W 2 chorobach |
| ATOH7atonal bHLH transcription factor 7 | Bardzo często (80–99%) | W 2 chorobach |
| BEST1bestrophin 1 | Bardzo często (80–99%) | W 2 chorobach |
| BMP4bone morphogenetic protein 4 | Bardzo często (80–99%) | W 2 chorobach |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Bardzo często (80–99%) | W 1 chorobie |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Bardzo często (80–99%) | W 1 chorobie |
| BUB3BUB3 mitotic checkpoint protein | Bardzo często (80–99%) | W 1 chorobie |
| CEP57centrosomal protein 57 | Bardzo często (80–99%) | W 1 chorobie |
| CHD6chromodomain helicase DNA binding protein 6 | Bardzo często (80–99%) | W 1 chorobie |
| COX7Bcytochrome c oxidase subunit 7B | Bardzo często (80–99%) | W 2 chorobach |
| CRB1crumbs cell polarity complex component 1 | Bardzo często (80–99%) | W 1 chorobie |
| CTDP1CTD phosphatase 1 | Bardzo często (80–99%) | W 1 chorobie |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Bardzo często (80–99%) | W 1 chorobie |
| ERCC5ERCC excision repair 5, endonuclease | Bardzo często (80–99%) | W 3 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Bardzo często (80–99%) | W 2 chorobach |
| FOXE3forkhead box E3 | Bardzo często (80–99%) | W 2 chorobach |
| FZD4frizzled class receptor 4 | Bardzo często (80–99%) | W 2 chorobach |
| GDF6growth differentiation factor 6 | Bardzo często (80–99%) | W 1 chorobie |
| HCCSholocytochrome c synthase | Bardzo często (80–99%) | W 2 chorobach |
| HDAC6histone deacetylase 6 | Bardzo często (80–99%) | W 2 chorobach |
| HRASHRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 1 chorobie |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Bardzo często (80–99%) | W 2 chorobach |
| KRASKRas proto-oncogene, GTPase | Bardzo często (80–99%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Bardzo często (80–99%) | W 2 chorobach |
| NDPnorrin cystine knot growth factor NDP | Bardzo często (80–99%) | W 5 chorobach |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Bardzo często (80–99%) | W 2 chorobach |
| NRASNRAS proto-oncogene, GTPase | Bardzo często (80–99%) | W 1 chorobie |
| PTCH1patched 1 | Bardzo często (80–99%) | W 3 chorobach |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Bardzo często (80–99%) | W 2 chorobach |
| RAXretina and anterior neural fold homeobox | Bardzo często (80–99%) | W 2 chorobach |
| SALL4spalt like transcription factor 4 | Bardzo często (80–99%) | W 2 chorobach |
| SHHsonic hedgehog signaling molecule | Bardzo często (80–99%) | W 2 chorobach |
| SMOC1SPARC related modular calcium binding 1 | Bardzo często (80–99%) | W 2 chorobach |
| SOX2SRY-box transcription factor 2 | Bardzo często (80–99%) | W 3 chorobach |
| STRA6signaling receptor and transporter of retinol STRA6 | Bardzo często (80–99%) | W 1 chorobie |
| TBC1D20TBC1 domain family member 20 | Bardzo często (80–99%) | W 2 chorobach |
| TRIP13thyroid hormone receptor interactor 13 | Bardzo często (80–99%) | W 1 chorobie |
| WNT7BWnt family member 7B | Bardzo często (80–99%) | W 1 chorobie |
| ALX3ALX homeobox 3 | Często (30–79%) | W 2 chorobach |
| ALX4ALX homeobox 4 | Często (30–79%) | W 2 chorobach |
| ARHGAP31Rho GTPase activating protein 31 | Często (30–79%) | W 2 chorobach |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Często (30–79%) | W 2 chorobach |
| B4GAT1beta-1,4-glucuronyltransferase 1 | 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 |
| BRIP1BRCA1 interacting DNA helicase 1 | Często (30–79%) | W 2 chorobach |
| C12orf57chromosome 12 open reading frame 57 | Często (30–79%) | W 1 chorobie |
| CC2D2Acoiled-coil and C2 domain containing 2A | Często (30–79%) | W 1 chorobie |
| CEP290centrosomal protein 290 | Często (30–79%) | W 2 chorobach |
| CHD7chromodomain helicase DNA binding protein 7 | Często (30–79%) | W 2 chorobach |
| COL4A1collagen type IV alpha 1 chain | Często (30–79%) | W 2 chorobach |
| CRPPACDP-L-ribitol pyrophosphorylase A | Często (30–79%) | W 2 chorobach |
| CSPP1centrosome and spindle pole associated protein 1 | Często (30–79%) | W 1 chorobie |
| DAG1dystroglycan 1 | Często (30–79%) | W 2 chorobach |
| DLL4delta like canonical Notch ligand 4 | Często (30–79%) | W 1 chorobie |
| DNA2DNA replication helicase/nuclease 2 | Często (30–79%) | W 1 chorobie |
| DOCK6dedicator of cytokinesis 6 | Często (30–79%) | W 2 chorobach |
| EBPEBP cholestenol delta-isomerase | Często (30–79%) | W 3 chorobach |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Często (30–79%) | W 1 chorobie |
| FAAP100FA core complex associated protein 100 | Często (30–79%) | W 2 chorobach |
| FANCD2FA complementation group D2 | Często (30–79%) | W 2 chorobach |
| FANCFFA complementation group F | Często (30–79%) | W 2 chorobach |
| FANCGFA complementation group G | Często (30–79%) | W 2 chorobach |
| FANCIFA complementation group I | Często (30–79%) | W 2 chorobach |
| FRAS1Fraser extracellular matrix complex subunit 1 | Często (30–79%) | W 1 chorobie |
| FREM2FRAS1 related extracellular matrix 2 | Często (30–79%) | W 3 chorobach |
| GDF3growth differentiation factor 3 | Często (30–79%) | W 1 chorobie |
| GLI3GLI family zinc finger 3 | Często (30–79%) | W 2 chorobach |
| GON4Lgon-4 like | Często (30–79%) | W 1 chorobie |
| GRIP1glutamate receptor interacting protein 1 | Często (30–79%) | W 1 chorobie |
| INTS1integrator complex subunit 1 | Często (30–79%) | W 1 chorobie |
| ITGAVintegrin subunit alpha V | Często (30–79%) | W 1 chorobie |
| KIF14kinesin family member 14 | Często (30–79%) | W 1 chorobie |
| LRP5LDL receptor related protein 5 | Często (30–79%) | W 3 chorobach |
| MAB21L2mab-21 like 2 | Często (30–79%) | W 1 chorobie |
| MAXMYC associated transcriptional regulator X | Często (30–79%) | W 1 chorobie |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Często (30–79%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Często (30–79%) | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Często (30–79%) | W 2 chorobach |
| NOTCH1notch receptor 1 | Często (30–79%) | W 1 chorobie |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Często (30–79%) | W 1 chorobie |
| PALB2partner and localizer of BRCA2 | Często (30–79%) | W 2 chorobach |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Często (30–79%) | W 2 chorobach |
| PDE6Dphosphodiesterase 6D | Często (30–79%) | W 1 chorobie |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Często (30–79%) | W 3 chorobach |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Często (30–79%) | W 2 chorobach |
| POMKprotein O-mannose kinase | Często (30–79%) | W 3 chorobach |
| PORCNporcupine O-acyltransferase | Często (30–79%) | W 2 chorobach |
| PRR12proline rich 12 | Często (30–79%) | W 1 chorobie |
| RB1RB transcriptional corepressor 1 | Często (30–79%) | W 1 chorobie |
| RBP4retinol binding protein 4 | Często (30–79%) | W 1 chorobie |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Często (30–79%) | W 1 chorobie |
| RPGRIP1RPGR interacting protein 1 | Często (30–79%) | W 1 chorobie |
| RSPO2R-spondin 2 | Często (30–79%) | W 1 chorobie |
| RXYLT1ribitol xylosyltransferase 1 | Często (30–79%) | W 1 chorobie |
| SEMA3Esemaphorin 3E | Często (30–79%) | W 1 chorobie |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Często (30–79%) | W 2 chorobach |
| SMOsmoothened, frizzled class receptor | Często (30–79%) | W 2 chorobach |
| TBR1T-box brain transcription factor 1 | Często (30–79%) | W 1 chorobie |
| TBX4T-box transcription factor 4 | Często (30–79%) | W 1 chorobie |
| TCTN1tectonic family member 1 | Często (30–79%) | W 1 chorobie |
| TCTN2tectonic family member 2 | Często (30–79%) | W 2 chorobach |
| TCTN3tectonic family member 3 | Często (30–79%) | W 1 chorobie |
| TFAP2Atranscription factor AP-2 alpha | Często (30–79%) | W 1 chorobie |
| TMEM107transmembrane protein 107 | Często (30–79%) | W 1 chorobie |
| TMEM216transmembrane protein 216 | Często (30–79%) | W 3 chorobach |
| TMEM231transmembrane protein 231 | Często (30–79%) | W 1 chorobie |
| TMEM237transmembrane protein 237 | Często (30–79%) | W 2 chorobach |
| TMEM67transmembrane protein 67 | Często (30–79%) | W 1 chorobie |
| TUBBtubulin beta class I | Często (30–79%) | W 3 chorobach |
| TXNDC15thioredoxin domain containing 15 | Często (30–79%) | W 2 chorobach |
| VPS35LVPS35 endosomal protein sorting factor like | Często (30–79%) | W 1 chorobie |
| WDR37WD repeat domain 37 | Często (30–79%) | W 1 chorobie |
| WNT3Wnt family member 3 | Często (30–79%) | W 2 chorobach |
| XYLT2xylosyltransferase 2 | Często (30–79%) | W 1 chorobie |
| YAP1Yes1 associated transcriptional regulator | Często (30–79%) | W 2 chorobach |
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Czasami (5–29%) | W 1 chorobie |
| ACTBactin beta | Czasami (5–29%) | W 1 chorobie |
| ACTG1actin gamma 1 | Czasami (5–29%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Czasami (5–29%) | W 1 chorobie |
| ASPHaspartate beta-hydroxylase | Czasami (5–29%) | W 1 chorobie |
| ATN1atrophin 1 | Czasami (5–29%) | W 1 chorobie |
| BRCA1BRCA1 DNA repair associated | Czasami (5–29%) | W 2 chorobach |
| BRCA2BRCA2 DNA repair associated | Czasami (5–29%) | W 1 chorobie |
| COMTcatechol-O-methyltransferase | Czasami (5–29%) | W 1 chorobie |
| CRYAAcrystallin alpha A | Czasami (5–29%) | W 1 chorobie |
| CTNNB1catenin beta 1 | Czasami (5–29%) | W 1 chorobie |
| DACT1dishevelled binding antagonist of beta catenin 1 | Czasami (5–29%) | W 1 chorobie |
| DKC1dyskerin pseudouridine synthase 1 | Czasami (5–29%) | W 1 chorobie |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Czasami (5–29%) | W 1 chorobie |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Czasami (5–29%) | W 2 chorobach |
| FANCAFA complementation group A | Czasami (5–29%) | W 2 chorobach |
| FANCBFA complementation group B | Czasami (5–29%) | W 2 chorobach |
| FANCCFA complementation group C | Czasami (5–29%) | W 2 chorobach |
| FANCEFA complementation group E | Czasami (5–29%) | W 2 chorobach |
| FANCLFA complementation group L | Czasami (5–29%) | W 2 chorobach |
| FANCMFA complementation group M | Czasami (5–29%) | W 1 chorobie |
| FBXW11F-box and WD repeat domain containing 11 | Czasami (5–29%) | W 1 chorobie |
| FGF3fibroblast growth factor 3 | Czasami (5–29%) | W 1 chorobie |
| FIG4FIG4 phosphoinositide 5-phosphatase | Czasami (5–29%) | W 1 chorobie |
| FOXC1forkhead box C1 | Czasami (5–29%) | W 1 chorobie |
| FOXC2forkhead box C2 | Czasami (5–29%) | W 1 chorobie |
| FREM1FRAS1 related extracellular matrix 1 | Czasami (5–29%) | W 2 chorobach |
| FZD5frizzled class receptor 5 | Czasami (5–29%) | W 1 chorobie |
| GP1BBglycoprotein Ib platelet subunit beta | Czasami (5–29%) | W 1 chorobie |
| HIRAhistone cell cycle regulator | Czasami (5–29%) | W 1 chorobie |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Czasami (5–29%) | W 2 chorobach |
| JAM3junctional adhesion molecule 3 | Czasami (5–29%) | W 1 chorobie |
| JARID2jumonji and AT-rich interaction domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Czasami (5–29%) | W 1 chorobie |
| KIF11kinesin family member 11 | Czasami (5–29%) | W 2 chorobach |
| KIF7kinesin family member 7 | Czasami (5–29%) | W 1 chorobie |
| KMT2Dlysine methyltransferase 2D | Czasami (5–29%) | W 2 chorobach |
| LAMB2laminin subunit beta 2 | Czasami (5–29%) | W 2 chorobach |
| LMBRD2LMBR1 domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| MAD2L2mitotic arrest deficient 2 like 2 | Czasami (5–29%) | W 1 chorobie |
| MED16mediator complex subunit 16 | Czasami (5–29%) | W 1 chorobie |
| MED25mediator complex subunit 25 | Czasami (5–29%) | W 2 chorobach |
| MPLKIPM-phase specific PLK1 interacting protein | Czasami (5–29%) | W 1 chorobie |
| NHSNHS actin remodeling regulator | Czasami (5–29%) | W 2 chorobach |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Czasami (5–29%) | W 2 chorobach |
| PAX6paired box 6 | Czasami (5–29%) | W 3 chorobach |
| PDGFRBplatelet derived growth factor receptor beta | Czasami (5–29%) | W 1 chorobie |
| PEX7peroxisomal biogenesis factor 7 | Czasami (5–29%) | W 1 chorobie |
| PHYHphytanoyl-CoA 2-hydroxylase | Czasami (5–29%) | W 1 chorobie |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Czasami (5–29%) | W 1 chorobie |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Czasami (5–29%) | W 1 chorobie |
| POLR1BRNA polymerase I subunit B | Czasami (5–29%) | W 1 chorobie |
| POLR1CRNA polymerase I and III subunit C | Czasami (5–29%) | W 1 chorobie |
| POLR1DRNA polymerase I and III subunit D | Czasami (5–29%) | W 1 chorobie |
| PQBP1polyglutamine binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| PUF60poly(U) binding splicing factor 60 | Czasami (5–29%) | W 1 chorobie |
| RAD51CRAD51 paralog C | Czasami (5–29%) | W 1 chorobie |
| REREarginine-glutamic acid dipeptide repeats | Czasami (5–29%) | W 2 chorobach |
| RFWD3ring finger and WD repeat domain 3 | Czasami (5–29%) | W 1 chorobie |
| RHOAras homolog family member A | Czasami (5–29%) | W 1 chorobie |
| RIPK4receptor interacting serine/threonine kinase 4 | Czasami (5–29%) | W 1 chorobie |
| RREB1ras responsive element binding protein 1 | Czasami (5–29%) | W 1 chorobie |
| SALL1spalt like transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Czasami (5–29%) | W 1 chorobie |
| SIX3SIX homeobox 3 | Czasami (5–29%) | W 1 chorobie |
| SLC38A8solute carrier family 38 member 8 | Czasami (5–29%) | W 1 chorobie |
| SLC6A1solute carrier family 6 member 1 | Czasami (5–29%) | W 2 chorobach |
| SLC6A11solute carrier family 6 member 11 | Czasami (5–29%) | W 1 chorobie |
| SLX4SLX4 structure-specific endonuclease subunit | Czasami (5–29%) | W 1 chorobie |
| SMAD4SMAD family member 4 | Czasami (5–29%) | W 1 chorobie |
| SMC5structural maintenance of chromosomes 5 | Czasami (5–29%) | W 1 chorobie |
| SPOUT1SPOUT domain containing methyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| SRD5A3steroid 5 alpha-reductase 3 | Czasami (5–29%) | W 1 chorobie |
| TBC1D32TBC1 domain family member 32 | Czasami (5–29%) | W 1 chorobie |
| TBL1XR1TBL1X/Y related 1 | Czasami (5–29%) | W 2 chorobach |
| TBX1T-box transcription factor 1 | Czasami (5–29%) | W 1 chorobie |
| TCOF1treacle ribosome biogenesis factor 1 | Czasami (5–29%) | W 1 chorobie |
| TKFCtriokinase and FMN cyclase | Czasami (5–29%) | W 1 chorobie |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Czasami (5–29%) | W 1 chorobie |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Czasami (5–29%) | W 1 chorobie |
| TRIM44TRIM family member 44 | Czasami (5–29%) | W 1 chorobie |
| TSPAN12tetraspanin 12 | Czasami (5–29%) | W 1 chorobie |
| UBE2Tubiquitin conjugating enzyme E2 T | Czasami (5–29%) | W 1 chorobie |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Czasami (5–29%) | W 1 chorobie |
| VAC14VAC14 component of PIKFYVE complex | Czasami (5–29%) | W 1 chorobie |
| VPS13Bvacuolar protein sorting 13 homolog B | Czasami (5–29%) | W 1 chorobie |
| XRCC2X-ray repair cross complementing 2 | Czasami (5–29%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Czasami (5–29%) | W 3 chorobach |
| ZNF408zinc finger protein 408 | Czasami (5–29%) | W 1 chorobie |
| ZNF699zinc finger protein 699 | Czasami (5–29%) | W 1 chorobie |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Czasami (5–29%) | W 1 chorobie |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Rzadko (1–4%) | W 1 chorobie |
| CHD2chromodomain helicase DNA binding protein 2 | Rzadko (1–4%) | W 1 chorobie |
| DPYDdihydropyrimidine dehydrogenase | Rzadko (1–4%) | W 1 chorobie |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Rzadko (1–4%) | W 1 chorobie |
| GJA5gap junction protein alpha 5 | Rzadko (1–4%) | W 1 chorobie |
| GJA8gap junction protein alpha 8 | Rzadko (1–4%) | W 1 chorobie |
| GMPPBGDP-mannose pyrophosphorylase B | Rzadko (1–4%) | W 1 chorobie |
| KDM6Alysine demethylase 6A | Rzadko (1–4%) | W 1 chorobie |
| MARK2microtubule affinity regulating kinase 2 | Rzadko (1–4%) | W 1 chorobie |
| MSL2MSL complex subunit 2 | Rzadko (1–4%) | W 1 chorobie |
| MT-CYBmitochondrially encoded cytochrome b | Rzadko (1–4%) | W 1 chorobie |
| NEXMIFneurite extension and migration factor | Rzadko (1–4%) | W 1 chorobie |
| RTTNrotatin | Rzadko (1–4%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Rzadko (1–4%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Rzadko (1–4%) | W 1 chorobie |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Nie odnotowano | W 1 chorobie |
| CENPFcentromere protein F | Nie odnotowano | W 1 chorobie |
| CEP120centrosomal protein 120 | Nie odnotowano | W 1 chorobie |
| DONSONDNA replication fork stabilization factor DONSON | Nie odnotowano | W 1 chorobie |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Nie odnotowano | W 1 chorobie |
| FOXL2forkhead box L2 | Nie odnotowano | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Nie odnotowano | W 1 chorobie |
| INTUinturned planar cell polarity protein | Nie odnotowano | W 1 chorobie |
| PAX2paired box 2 | Nie odnotowano | W 1 chorobie |
| PHGDHphosphoglycerate dehydrogenase | Nie odnotowano | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nie odnotowano | W 1 chorobie |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nie odnotowano | W 1 chorobie |
| PITX3paired like homeodomain 3 | Nie odnotowano | W 1 chorobie |
| PLK4polo like kinase 4 | Nie odnotowano | W 1 chorobie |
| RARBretinoic acid receptor beta | Nie odnotowano | W 1 chorobie |
| SF3B2splicing factor 3b subunit 2 | Nie odnotowano | W 1 chorobie |
| SIN3ASIN3 transcription regulator family member A | Nie odnotowano | W 1 chorobie |
| SLC25A24solute carrier family 25 member 24 | Nie odnotowano | W 1 chorobie |
| SMG9SMG9 nonsense mediated mRNA decay factor | Nie odnotowano | W 1 chorobie |
| SYCE1synaptonemal complex central element protein 1 | Nie odnotowano | W 1 chorobie |
| TBX15T-box transcription factor 15 | Nie odnotowano | W 1 chorobie |
| TUBGCP4tubulin gamma complex component 4 | Nie odnotowano | W 1 chorobie |
| TUBGCP6tubulin gamma complex component 6 | Nie odnotowano | W 1 chorobie |
| WDR73WD repeat domain 73 | 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 podrzędne
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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