Požymis
Abnormally small eyeball
Klinikinis pavadinimas: Microphthalmia
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Santrauka
- Taip pat vadinama
- Decreased size of eyeball, Abnormally small globe of eye, Microphthalmos
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Abnormally small eyeball. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ALX1ALX homeobox 1 | Visada | 2 ligose |
| ARXaristaless related homeobox | Visada | 1 ligoje |
| BCORBCL6 corepressor | Visada | 4 ligose |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Visada | 2 ligose |
| COX14cytochrome c oxidase assembly factor COX14 | Visada | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Visada | 4 ligose |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Visada | 4 ligose |
| FAM111AFAM111 trypsin like peptidase A | Visada | 2 ligose |
| FKRPfukutin related protein | Visada | 4 ligose |
| FKTNfukutin | Visada | 3 ligose |
| GJA1gap junction protein alpha 1 | Visada | 2 ligose |
| GTF2H5general transcription factor IIH subunit 5 | Visada | 1 ligoje |
| HMGB3high mobility group box 3 | Visada | 1 ligoje |
| HMX1H6 family homeobox 1 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KERAkeratocan | Visada | 1 ligoje |
| KIF15kinesin family member 15 | Visada | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Visada | 2 ligose |
| MAPRE2microtubule associated protein RP/EB family member 2 | Visada | 2 ligose |
| MFRPmembrane frizzled-related protein | Visada | 3 ligose |
| MITFmelanocyte inducing transcription factor | Visada | 1 ligoje |
| NAV3neuron navigator 3 | Visada | 1 ligoje |
| NHEJ1non-homologous end joining factor 1 | Visada | 1 ligoje |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Visada | 1 ligoje |
| NUP188nucleoporin 188 | Visada | 1 ligoje |
| OSGEPO-sialoglycoprotein endopeptidase | Visada | 1 ligoje |
| OTX2orthodenticle homeobox 2 | Visada | 2 ligose |
| POMT1protein O-mannosyltransferase 1 | Visada | 3 ligose |
| POMT2protein O-mannosyltransferase 2 | Visada | 4 ligose |
| PRIM1DNA primase subunit 1 | Visada | 1 ligoje |
| PRSS56serine protease 56 | Visada | 2 ligose |
| RAB18RAB18, member RAS oncogene family | Visada | 2 ligose |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 3 ligose |
| RAD51RAD51 recombinase | Visada | 2 ligose |
| RBBP8RB binding protein 8, endonuclease | Visada | 1 ligoje |
| RBSNrabenosyn, RAB effector | Visada | 1 ligoje |
| RECQL4RecQ like helicase 4 | Visada | 1 ligoje |
| RPGRIP1LRPGRIP1 like | Visada | 2 ligose |
| SIX6SIX homeobox 6 | Visada | 3 ligose |
| SNAPINSNAP associated protein | Visada | 1 ligoje |
Rodyti dar 255 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Visada | 1 ligoje |
| TBCEtubulin folding cofactor E | Visada | 1 ligoje |
| TENM3teneurin transmembrane protein 3 | Visada | 1 ligoje |
| TMEM98transmembrane protein 98 | Visada | 2 ligose |
| TOMM7translocase of outer mitochondrial membrane 7 | Visada | 1 ligoje |
| VAX1ventral anterior homeobox 1 | Visada | 1 ligoje |
| VSX2visual system homeobox 2 | Visada | 2 ligose |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Labai dažnai (80–99%) | 2 ligose |
| ATOH7atonal bHLH transcription factor 7 | Labai dažnai (80–99%) | 2 ligose |
| BEST1bestrophin 1 | Labai dažnai (80–99%) | 2 ligose |
| BMP4bone morphogenetic protein 4 | Labai dažnai (80–99%) | 2 ligose |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Labai dažnai (80–99%) | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Labai dažnai (80–99%) | 1 ligoje |
| BUB3BUB3 mitotic checkpoint protein | Labai dažnai (80–99%) | 1 ligoje |
| CEP57centrosomal protein 57 | Labai dažnai (80–99%) | 1 ligoje |
| CHD6chromodomain helicase DNA binding protein 6 | Labai dažnai (80–99%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Labai dažnai (80–99%) | 2 ligose |
| CRB1crumbs cell polarity complex component 1 | Labai dažnai (80–99%) | 1 ligoje |
| CTDP1CTD phosphatase 1 | Labai dažnai (80–99%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| ERCC5ERCC excision repair 5, endonuclease | Labai dažnai (80–99%) | 3 ligose |
| FGFR1fibroblast growth factor receptor 1 | Labai dažnai (80–99%) | 2 ligose |
| FOXE3forkhead box E3 | Labai dažnai (80–99%) | 2 ligose |
| FZD4frizzled class receptor 4 | Labai dažnai (80–99%) | 2 ligose |
| GDF6growth differentiation factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| HCCSholocytochrome c synthase | Labai dažnai (80–99%) | 2 ligose |
| HDAC6histone deacetylase 6 | Labai dažnai (80–99%) | 2 ligose |
| HRASHRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Labai dažnai (80–99%) | 2 ligose |
| KRASKRas proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Labai dažnai (80–99%) | 2 ligose |
| NDPnorrin cystine knot growth factor NDP | Labai dažnai (80–99%) | 5 ligose |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Labai dažnai (80–99%) | 2 ligose |
| NRASNRAS proto-oncogene, GTPase | Labai dažnai (80–99%) | 1 ligoje |
| PTCH1patched 1 | Labai dažnai (80–99%) | 3 ligose |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Labai dažnai (80–99%) | 2 ligose |
| RAXretina and anterior neural fold homeobox | Labai dažnai (80–99%) | 2 ligose |
| SALL4spalt like transcription factor 4 | Labai dažnai (80–99%) | 2 ligose |
| SHHsonic hedgehog signaling molecule | Labai dažnai (80–99%) | 2 ligose |
| SMOC1SPARC related modular calcium binding 1 | Labai dažnai (80–99%) | 2 ligose |
| SOX2SRY-box transcription factor 2 | Labai dažnai (80–99%) | 3 ligose |
| STRA6signaling receptor and transporter of retinol STRA6 | Labai dažnai (80–99%) | 1 ligoje |
| TBC1D20TBC1 domain family member 20 | Labai dažnai (80–99%) | 2 ligose |
| TRIP13thyroid hormone receptor interactor 13 | Labai dažnai (80–99%) | 1 ligoje |
| WNT7BWnt family member 7B | Labai dažnai (80–99%) | 1 ligoje |
| ALX3ALX homeobox 3 | Dažnai (30–79%) | 2 ligose |
| ALX4ALX homeobox 4 | Dažnai (30–79%) | 2 ligose |
| ARHGAP31Rho GTPase activating protein 31 | Dažnai (30–79%) | 2 ligose |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Dažnai (30–79%) | 2 ligose |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| B9D1B9 domain containing 1 | Dažnai (30–79%) | 1 ligoje |
| B9D2B9 domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| BRIP1BRCA1 interacting DNA helicase 1 | Dažnai (30–79%) | 2 ligose |
| C12orf57chromosome 12 open reading frame 57 | Dažnai (30–79%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Dažnai (30–79%) | 1 ligoje |
| CEP290centrosomal protein 290 | Dažnai (30–79%) | 2 ligose |
| CHD7chromodomain helicase DNA binding protein 7 | Dažnai (30–79%) | 2 ligose |
| COL4A1collagen type IV alpha 1 chain | Dažnai (30–79%) | 2 ligose |
| CRPPACDP-L-ribitol pyrophosphorylase A | Dažnai (30–79%) | 2 ligose |
| CSPP1centrosome and spindle pole associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| DAG1dystroglycan 1 | Dažnai (30–79%) | 2 ligose |
| DLL4delta like canonical Notch ligand 4 | Dažnai (30–79%) | 1 ligoje |
| DNA2DNA replication helicase/nuclease 2 | Dažnai (30–79%) | 1 ligoje |
| DOCK6dedicator of cytokinesis 6 | Dažnai (30–79%) | 2 ligose |
| EBPEBP cholestenol delta-isomerase | Dažnai (30–79%) | 3 ligose |
| EOGTEGF domain specific O-linked N-acetylglucosamine transferase | Dažnai (30–79%) | 1 ligoje |
| FAAP100FA core complex associated protein 100 | Dažnai (30–79%) | 2 ligose |
| FANCD2FA complementation group D2 | Dažnai (30–79%) | 2 ligose |
| FANCFFA complementation group F | Dažnai (30–79%) | 2 ligose |
| FANCGFA complementation group G | Dažnai (30–79%) | 2 ligose |
| FANCIFA complementation group I | Dažnai (30–79%) | 2 ligose |
| FRAS1Fraser extracellular matrix complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| FREM2FRAS1 related extracellular matrix 2 | Dažnai (30–79%) | 3 ligose |
| GDF3growth differentiation factor 3 | Dažnai (30–79%) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Dažnai (30–79%) | 2 ligose |
| GON4Lgon-4 like | Dažnai (30–79%) | 1 ligoje |
| GRIP1glutamate receptor interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| INTS1integrator complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| ITGAVintegrin subunit alpha V | Dažnai (30–79%) | 1 ligoje |
| KIF14kinesin family member 14 | Dažnai (30–79%) | 1 ligoje |
| LRP5LDL receptor related protein 5 | Dažnai (30–79%) | 3 ligose |
| MAB21L2mab-21 like 2 | Dažnai (30–79%) | 1 ligoje |
| MAXMYC associated transcriptional regulator X | Dažnai (30–79%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Dažnai (30–79%) | 2 ligose |
| NOTCH1notch receptor 1 | Dažnai (30–79%) | 1 ligoje |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Dažnai (30–79%) | 1 ligoje |
| PALB2partner and localizer of BRCA2 | Dažnai (30–79%) | 2 ligose |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Dažnai (30–79%) | 2 ligose |
| PDE6Dphosphodiesterase 6D | Dažnai (30–79%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Dažnai (30–79%) | 3 ligose |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Dažnai (30–79%) | 2 ligose |
| POMKprotein O-mannose kinase | Dažnai (30–79%) | 3 ligose |
| PORCNporcupine O-acyltransferase | Dažnai (30–79%) | 2 ligose |
| PRR12proline rich 12 | Dažnai (30–79%) | 1 ligoje |
| RB1RB transcriptional corepressor 1 | Dažnai (30–79%) | 1 ligoje |
| RBP4retinol binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| RBPJrecombination signal binding protein for immunoglobulin kappa J region | Dažnai (30–79%) | 1 ligoje |
| RPGRIP1RPGR interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| RSPO2R-spondin 2 | Dažnai (30–79%) | 1 ligoje |
| RXYLT1ribitol xylosyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| SEMA3Esemaphorin 3E | Dažnai (30–79%) | 1 ligoje |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Dažnai (30–79%) | 2 ligose |
| SMOsmoothened, frizzled class receptor | Dažnai (30–79%) | 2 ligose |
| TBR1T-box brain transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TBX4T-box transcription factor 4 | Dažnai (30–79%) | 1 ligoje |
| TCTN1tectonic family member 1 | Dažnai (30–79%) | 1 ligoje |
| TCTN2tectonic family member 2 | Dažnai (30–79%) | 2 ligose |
| TCTN3tectonic family member 3 | Dažnai (30–79%) | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Dažnai (30–79%) | 1 ligoje |
| TMEM107transmembrane protein 107 | Dažnai (30–79%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Dažnai (30–79%) | 3 ligose |
| TMEM231transmembrane protein 231 | Dažnai (30–79%) | 1 ligoje |
| TMEM237transmembrane protein 237 | Dažnai (30–79%) | 2 ligose |
| TMEM67transmembrane protein 67 | Dažnai (30–79%) | 1 ligoje |
| TUBBtubulin beta class I | Dažnai (30–79%) | 3 ligose |
| TXNDC15thioredoxin domain containing 15 | Dažnai (30–79%) | 2 ligose |
| VPS35LVPS35 endosomal protein sorting factor like | Dažnai (30–79%) | 1 ligoje |
| WDR37WD repeat domain 37 | Dažnai (30–79%) | 1 ligoje |
| WNT3Wnt family member 3 | Dažnai (30–79%) | 2 ligose |
| XYLT2xylosyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| YAP1Yes1 associated transcriptional regulator | Dažnai (30–79%) | 2 ligose |
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Kartais (5–29%) | 1 ligoje |
| ACTBactin beta | Kartais (5–29%) | 1 ligoje |
| ACTG1actin gamma 1 | Kartais (5–29%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Kartais (5–29%) | 1 ligoje |
| ASPHaspartate beta-hydroxylase | Kartais (5–29%) | 1 ligoje |
| ATN1atrophin 1 | Kartais (5–29%) | 1 ligoje |
| BRCA1BRCA1 DNA repair associated | Kartais (5–29%) | 2 ligose |
| BRCA2BRCA2 DNA repair associated | Kartais (5–29%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Kartais (5–29%) | 1 ligoje |
| CRYAAcrystallin alpha A | Kartais (5–29%) | 1 ligoje |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 1 ligoje |
| DACT1dishevelled binding antagonist of beta catenin 1 | Kartais (5–29%) | 1 ligoje |
| DKC1dyskerin pseudouridine synthase 1 | Kartais (5–29%) | 1 ligoje |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Kartais (5–29%) | 1 ligoje |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Kartais (5–29%) | 2 ligose |
| FANCAFA complementation group A | Kartais (5–29%) | 2 ligose |
| FANCBFA complementation group B | Kartais (5–29%) | 2 ligose |
| FANCCFA complementation group C | Kartais (5–29%) | 2 ligose |
| FANCEFA complementation group E | Kartais (5–29%) | 2 ligose |
| FANCLFA complementation group L | Kartais (5–29%) | 2 ligose |
| FANCMFA complementation group M | Kartais (5–29%) | 1 ligoje |
| FBXW11F-box and WD repeat domain containing 11 | Kartais (5–29%) | 1 ligoje |
| FGF3fibroblast growth factor 3 | Kartais (5–29%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Kartais (5–29%) | 1 ligoje |
| FOXC1forkhead box C1 | Kartais (5–29%) | 1 ligoje |
| FOXC2forkhead box C2 | Kartais (5–29%) | 1 ligoje |
| FREM1FRAS1 related extracellular matrix 1 | Kartais (5–29%) | 2 ligose |
| FZD5frizzled class receptor 5 | Kartais (5–29%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Kartais (5–29%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Kartais (5–29%) | 1 ligoje |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Kartais (5–29%) | 2 ligose |
| JAM3junctional adhesion molecule 3 | Kartais (5–29%) | 1 ligoje |
| JARID2jumonji and AT-rich interaction domain containing 2 | Kartais (5–29%) | 1 ligoje |
| JMJD1Cjumonji domain containing 1C | Kartais (5–29%) | 1 ligoje |
| KIF11kinesin family member 11 | Kartais (5–29%) | 2 ligose |
| KIF7kinesin family member 7 | Kartais (5–29%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Kartais (5–29%) | 2 ligose |
| LAMB2laminin subunit beta 2 | Kartais (5–29%) | 2 ligose |
| LMBRD2LMBR1 domain containing 2 | Kartais (5–29%) | 1 ligoje |
| MAD2L2mitotic arrest deficient 2 like 2 | Kartais (5–29%) | 1 ligoje |
| MED16mediator complex subunit 16 | Kartais (5–29%) | 1 ligoje |
| MED25mediator complex subunit 25 | Kartais (5–29%) | 2 ligose |
| MPLKIPM-phase specific PLK1 interacting protein | Kartais (5–29%) | 1 ligoje |
| NHSNHS actin remodeling regulator | Kartais (5–29%) | 2 ligose |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Kartais (5–29%) | 2 ligose |
| PAX6paired box 6 | Kartais (5–29%) | 3 ligose |
| PDGFRBplatelet derived growth factor receptor beta | Kartais (5–29%) | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Kartais (5–29%) | 1 ligoje |
| PHYHphytanoyl-CoA 2-hydroxylase | Kartais (5–29%) | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Kartais (5–29%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kartais (5–29%) | 1 ligoje |
| POLR1BRNA polymerase I subunit B | Kartais (5–29%) | 1 ligoje |
| POLR1CRNA polymerase I and III subunit C | Kartais (5–29%) | 1 ligoje |
| POLR1DRNA polymerase I and III subunit D | Kartais (5–29%) | 1 ligoje |
| PQBP1polyglutamine binding protein 1 | Kartais (5–29%) | 1 ligoje |
| PUF60poly(U) binding splicing factor 60 | Kartais (5–29%) | 1 ligoje |
| RAD51CRAD51 paralog C | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 2 ligose |
| RFWD3ring finger and WD repeat domain 3 | Kartais (5–29%) | 1 ligoje |
| RHOAras homolog family member A | Kartais (5–29%) | 1 ligoje |
| RIPK4receptor interacting serine/threonine kinase 4 | Kartais (5–29%) | 1 ligoje |
| RREB1ras responsive element binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SALL1spalt like transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Kartais (5–29%) | 1 ligoje |
| SIX3SIX homeobox 3 | Kartais (5–29%) | 1 ligoje |
| SLC38A8solute carrier family 38 member 8 | Kartais (5–29%) | 1 ligoje |
| SLC6A1solute carrier family 6 member 1 | Kartais (5–29%) | 2 ligose |
| SLC6A11solute carrier family 6 member 11 | Kartais (5–29%) | 1 ligoje |
| SLX4SLX4 structure-specific endonuclease subunit | Kartais (5–29%) | 1 ligoje |
| SMAD4SMAD family member 4 | Kartais (5–29%) | 1 ligoje |
| SMC5structural maintenance of chromosomes 5 | Kartais (5–29%) | 1 ligoje |
| SPOUT1SPOUT domain containing methyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| SRD5A3steroid 5 alpha-reductase 3 | Kartais (5–29%) | 1 ligoje |
| TBC1D32TBC1 domain family member 32 | Kartais (5–29%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Kartais (5–29%) | 2 ligose |
| TBX1T-box transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| TCOF1treacle ribosome biogenesis factor 1 | Kartais (5–29%) | 1 ligoje |
| TKFCtriokinase and FMN cyclase | Kartais (5–29%) | 1 ligoje |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Kartais (5–29%) | 1 ligoje |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Kartais (5–29%) | 1 ligoje |
| TRIM44TRIM family member 44 | Kartais (5–29%) | 1 ligoje |
| TSPAN12tetraspanin 12 | Kartais (5–29%) | 1 ligoje |
| UBE2Tubiquitin conjugating enzyme E2 T | Kartais (5–29%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Kartais (5–29%) | 1 ligoje |
| VAC14VAC14 component of PIKFYVE complex | Kartais (5–29%) | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | Kartais (5–29%) | 1 ligoje |
| XRCC2X-ray repair cross complementing 2 | Kartais (5–29%) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 3 ligose |
| ZNF408zinc finger protein 408 | Kartais (5–29%) | 1 ligoje |
| ZNF699zinc finger protein 699 | Kartais (5–29%) | 1 ligoje |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Kartais (5–29%) | 1 ligoje |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Retai (1–4 %) | 1 ligoje |
| CHD2chromodomain helicase DNA binding protein 2 | Retai (1–4 %) | 1 ligoje |
| DPYDdihydropyrimidine dehydrogenase | Retai (1–4 %) | 1 ligoje |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Retai (1–4 %) | 1 ligoje |
| GJA5gap junction protein alpha 5 | Retai (1–4 %) | 1 ligoje |
| GJA8gap junction protein alpha 8 | Retai (1–4 %) | 1 ligoje |
| GMPPBGDP-mannose pyrophosphorylase B | Retai (1–4 %) | 1 ligoje |
| KDM6Alysine demethylase 6A | Retai (1–4 %) | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Retai (1–4 %) | 1 ligoje |
| MSL2MSL complex subunit 2 | Retai (1–4 %) | 1 ligoje |
| MT-CYBmitochondrially encoded cytochrome b | Retai (1–4 %) | 1 ligoje |
| NEXMIFneurite extension and migration factor | Retai (1–4 %) | 1 ligoje |
| RTTNrotatin | Retai (1–4 %) | 1 ligoje |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Retai (1–4 %) | 1 ligoje |
| SLC2A1solute carrier family 2 member 1 | Retai (1–4 %) | 1 ligoje |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Retai (1–4 %) | 1 ligoje |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Neužfiksuota | 1 ligoje |
| CENPFcentromere protein F | Neužfiksuota | 1 ligoje |
| CEP120centrosomal protein 120 | Neužfiksuota | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Neužfiksuota | 1 ligoje |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Neužfiksuota | 1 ligoje |
| FOXL2forkhead box L2 | Neužfiksuota | 1 ligoje |
| GLI2GLI family zinc finger 2 | Neužfiksuota | 1 ligoje |
| INTUinturned planar cell polarity protein | Neužfiksuota | 1 ligoje |
| PAX2paired box 2 | Neužfiksuota | 1 ligoje |
| PHGDHphosphoglycerate dehydrogenase | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Neužfiksuota | 1 ligoje |
| PITX3paired like homeodomain 3 | Neužfiksuota | 1 ligoje |
| PLK4polo like kinase 4 | Neužfiksuota | 1 ligoje |
| RARBretinoic acid receptor beta | Neužfiksuota | 1 ligoje |
| SF3B2splicing factor 3b subunit 2 | Neužfiksuota | 1 ligoje |
| SIN3ASIN3 transcription regulator family member A | Neužfiksuota | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Neužfiksuota | 1 ligoje |
| SMG9SMG9 nonsense mediated mRNA decay factor | Neužfiksuota | 1 ligoje |
| SYCE1synaptonemal complex central element protein 1 | Neužfiksuota | 1 ligoje |
| TBX15T-box transcription factor 15 | Neužfiksuota | 1 ligoje |
| TUBGCP4tubulin gamma complex component 4 | Neužfiksuota | 1 ligoje |
| TUBGCP6tubulin gamma complex component 6 | Neužfiksuota | 1 ligoje |
| WDR73WD repeat domain 73 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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