Egenskap
Abnormally small eyeball
Klinisk navn: Microphthalmia
A developmental anomaly characterized by abnormal smallness of one or both eyes.
Sammendrag
- Også kalt
- Decreased size of eyeball, Abnormally small globe of eye, Microphthalmos
- Kroppssystem
- Abnormality of the eye
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Abnormally small eyeball forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALX1ALX homeobox 1 | Alltid | I 2 tilstander |
| ARXaristaless related homeobox | Alltid | I 1 tilstand |
| BCORBCL6 corepressor | Alltid | I 4 tilstander |
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Alltid | I 2 tilstander |
| COX14cytochrome c oxidase assembly factor COX14 | Alltid | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Alltid | I 4 tilstander |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Alltid | I 4 tilstander |
| FAM111AFAM111 trypsin like peptidase A | Alltid | I 2 tilstander |
| FKRPfukutin related protein | Alltid | I 4 tilstander |
| FKTNfukutin | Alltid | I 3 tilstander |
| GJA1gap junction protein alpha 1 | Alltid | I 2 tilstander |
| GTF2H5general transcription factor IIH subunit 5 | Alltid | I 1 tilstand |
| HMGB3high mobility group box 3 | Alltid | I 1 tilstand |
| HMX1H6 family homeobox 1 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KERAkeratocan | Alltid | I 1 tilstand |
| KIF15kinesin family member 15 | Alltid | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Alltid | I 2 tilstander |
| MAPRE2microtubule associated protein RP/EB family member 2 | Alltid | I 2 tilstander |
| MFRPmembrane frizzled-related protein | Alltid | I 3 tilstander |
| MITFmelanocyte inducing transcription factor | Alltid | I 1 tilstand |
| NAV3neuron navigator 3 | Alltid | I 1 tilstand |
| NHEJ1non-homologous end joining factor 1 | Alltid | I 1 tilstand |
| NR6A1nuclear receptor subfamily 6 group A member 1 | Alltid | I 1 tilstand |
| NUP188nucleoporin 188 | Alltid | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Alltid | I 1 tilstand |
| OTX2orthodenticle homeobox 2 | Alltid | I 2 tilstander |
| POMT1protein O-mannosyltransferase 1 | Alltid | I 3 tilstander |
| POMT2protein O-mannosyltransferase 2 | Alltid | I 4 tilstander |
| PRIM1DNA primase subunit 1 | Alltid | I 1 tilstand |
| PRSS56serine protease 56 | Alltid | I 2 tilstander |
| RAB18RAB18, member RAS oncogene family | Alltid | I 2 tilstander |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alltid | I 3 tilstander |
| RAD51RAD51 recombinase | Alltid | I 2 tilstander |
| RBBP8RB binding protein 8, endonuclease | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Alltid | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Alltid | I 2 tilstander |
| SIX6SIX homeobox 6 | Alltid | I 3 tilstander |
| SNAPINSNAP associated protein | Alltid | I 1 tilstand |
Vis 255 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Alltid | I 1 tilstand |
| TBCEtubulin folding cofactor E | Alltid | I 1 tilstand |
| TENM3teneurin transmembrane protein 3 | Alltid | I 1 tilstand |
| TMEM98transmembrane protein 98 | Alltid | I 2 tilstander |
| TOMM7translocase of outer mitochondrial membrane 7 | Alltid | I 1 tilstand |
| VAX1ventral anterior homeobox 1 | Alltid | I 1 tilstand |
| VSX2visual system homeobox 2 | Alltid | I 2 tilstander |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Svært ofte (80–99 %) | I 2 tilstander |
| ATOH7atonal bHLH transcription factor 7 | Svært ofte (80–99 %) | I 2 tilstander |
| BEST1bestrophin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| BMP4bone morphogenetic protein 4 | Svært ofte (80–99 %) | I 2 tilstander |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Svært ofte (80–99 %) | I 1 tilstand |
| BUB3BUB3 mitotic checkpoint protein | Svært ofte (80–99 %) | I 1 tilstand |
| CEP57centrosomal protein 57 | Svært ofte (80–99 %) | I 1 tilstand |
| CHD6chromodomain helicase DNA binding protein 6 | Svært ofte (80–99 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Svært ofte (80–99 %) | I 2 tilstander |
| CRB1crumbs cell polarity complex component 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Svært ofte (80–99 %) | I 3 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| FOXE3forkhead box E3 | Svært ofte (80–99 %) | I 2 tilstander |
| FZD4frizzled class receptor 4 | Svært ofte (80–99 %) | I 2 tilstander |
| GDF6growth differentiation factor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Svært ofte (80–99 %) | I 2 tilstander |
| HDAC6histone deacetylase 6 | Svært ofte (80–99 %) | I 2 tilstander |
| HRASHRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Svært ofte (80–99 %) | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Svært ofte (80–99 %) | I 2 tilstander |
| NDPnorrin cystine knot growth factor NDP | Svært ofte (80–99 %) | I 5 tilstander |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Svært ofte (80–99 %) | I 2 tilstander |
| NRASNRAS proto-oncogene, GTPase | Svært ofte (80–99 %) | I 1 tilstand |
| PTCH1patched 1 | Svært ofte (80–99 %) | I 3 tilstander |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| RAXretina and anterior neural fold homeobox | Svært ofte (80–99 %) | I 2 tilstander |
| SALL4spalt like transcription factor 4 | Svært ofte (80–99 %) | I 2 tilstander |
| SHHsonic hedgehog signaling molecule | Svært ofte (80–99 %) | I 2 tilstander |
| SMOC1SPARC related modular calcium binding 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SOX2SRY-box transcription factor 2 | Svært ofte (80–99 %) | I 3 tilstander |
| STRA6signaling receptor and transporter of retinol STRA6 | Svært ofte (80–99 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Svært ofte (80–99 %) | I 2 tilstander |
| TRIP13thyroid hormone receptor interactor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| WNT7BWnt family member 7B | Svært ofte (80–99 %) | I 1 tilstand |
| ALX3ALX homeobox 3 | Ofte (30–79 %) | I 2 tilstander |
| ALX4ALX homeobox 4 | Ofte (30–79 %) | I 2 tilstander |
| ARHGAP31Rho GTPase activating protein 31 | Ofte (30–79 %) | I 2 tilstander |
| B3GALNT2beta-1,3-N-acetylgalactosaminyltransferase 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| CHD7chromodomain helicase DNA binding protein 7 | Ofte (30–79 %) | I 2 tilstander |
| COL4A1collagen type IV alpha 1 chain | Ofte (30–79 %) | I 2 tilstander |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ofte (30–79 %) | I 2 tilstander |
| CSPP1centrosome and spindle pole associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| DAG1dystroglycan 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| FANCD2FA complementation group D2 | Ofte (30–79 %) | I 2 tilstander |
| FANCFFA complementation group F | Ofte (30–79 %) | I 2 tilstander |
| FANCGFA complementation group G | Ofte (30–79 %) | I 2 tilstander |
| FANCIFA complementation group I | Ofte (30–79 %) | I 2 tilstander |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Ofte (30–79 %) | I 3 tilstander |
| GDF3growth differentiation factor 3 | Ofte (30–79 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Ofte (30–79 %) | I 2 tilstander |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofte (30–79 %) | I 3 tilstander |
| POMGNT2protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Ofte (30–79 %) | I 2 tilstander |
| POMKprotein O-mannose kinase | Ofte (30–79 %) | I 3 tilstander |
| PORCNporcupine O-acyltransferase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| SMOsmoothened, frizzled class receptor | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 2 tilstander |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 1 tilstand |
| TUBBtubulin beta class I | Ofte (30–79 %) | I 3 tilstander |
| TXNDC15thioredoxin domain containing 15 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| XYLT2xylosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| YAP1Yes1 associated transcriptional regulator | Ofte (30–79 %) | I 2 tilstander |
| ABCB6ATP binding cassette subfamily B member 6 (LAN blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| ACTBactin beta | Noen ganger (5–29 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Noen ganger (5–29 %) | I 1 tilstand |
| ASPHaspartate beta-hydroxylase | Noen ganger (5–29 %) | I 1 tilstand |
| ATN1atrophin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 2 tilstander |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| CRYAAcrystallin alpha A | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DACT1dishevelled binding antagonist of beta catenin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| FANCAFA complementation group A | Noen ganger (5–29 %) | I 2 tilstander |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 2 tilstander |
| FANCCFA complementation group C | Noen ganger (5–29 %) | I 2 tilstander |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 2 tilstander |
| FANCLFA complementation group L | Noen ganger (5–29 %) | I 2 tilstander |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF3fibroblast growth factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXC2forkhead box C2 | Noen ganger (5–29 %) | I 1 tilstand |
| FREM1FRAS1 related extracellular matrix 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FZD5frizzled class receptor 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Noen ganger (5–29 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Noen ganger (5–29 %) | I 2 tilstander |
| JAM3junctional adhesion molecule 3 | Noen ganger (5–29 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Noen ganger (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Noen ganger (5–29 %) | I 2 tilstander |
| KIF7kinesin family member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Noen ganger (5–29 %) | I 2 tilstander |
| LAMB2laminin subunit beta 2 | Noen ganger (5–29 %) | I 2 tilstander |
| LMBRD2LMBR1 domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Noen ganger (5–29 %) | I 2 tilstander |
| MPLKIPM-phase specific PLK1 interacting protein | Noen ganger (5–29 %) | I 1 tilstand |
| NHSNHS actin remodeling regulator | Noen ganger (5–29 %) | I 2 tilstander |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Noen ganger (5–29 %) | I 2 tilstander |
| PAX6paired box 6 | Noen ganger (5–29 %) | I 3 tilstander |
| PDGFRBplatelet derived growth factor receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Noen ganger (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Noen ganger (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Noen ganger (5–29 %) | I 1 tilstand |
| POLR1BRNA polymerase I subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| POLR1CRNA polymerase I and III subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| POLR1DRNA polymerase I and III subunit D | Noen ganger (5–29 %) | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 2 tilstander |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RHOAras homolog family member A | Noen ganger (5–29 %) | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SIX3SIX homeobox 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC38A8solute carrier family 38 member 8 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SLC6A11solute carrier family 6 member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SPOUT1SPOUT domain containing methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TCOF1treacle ribosome biogenesis factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TKFCtriokinase and FMN cyclase | Noen ganger (5–29 %) | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM44TRIM family member 44 | Noen ganger (5–29 %) | I 1 tilstand |
| TSPAN12tetraspanin 12 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Noen ganger (5–29 %) | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 3 tilstander |
| ZNF408zinc finger protein 408 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Noen ganger (5–29 %) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sjelden (1–4%) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Sjelden (1–4%) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Sjelden (1–4%) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Sjelden (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjelden (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjelden (1–4%) | I 1 tilstand |
| GMPPBGDP-mannose pyrophosphorylase B | Sjelden (1–4%) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Sjelden (1–4%) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Sjelden (1–4%) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| MT-CYBmitochondrially encoded cytochrome b | Sjelden (1–4%) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Sjelden (1–4%) | I 1 tilstand |
| RTTNrotatin | Sjelden (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjelden (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjelden (1–4%) | I 1 tilstand |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Ikke registrert | I 1 tilstand |
| CENPFcentromere protein F | Ikke registrert | I 1 tilstand |
| CEP120centrosomal protein 120 | Ikke registrert | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Ikke registrert | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Ikke registrert | I 1 tilstand |
| FOXL2forkhead box L2 | Ikke registrert | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ikke registrert | I 1 tilstand |
| INTUinturned planar cell polarity protein | Ikke registrert | I 1 tilstand |
| PAX2paired box 2 | Ikke registrert | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registrert | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registrert | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| PITX3paired like homeodomain 3 | Ikke registrert | I 1 tilstand |
| PLK4polo like kinase 4 | Ikke registrert | I 1 tilstand |
| RARBretinoic acid receptor beta | Ikke registrert | I 1 tilstand |
| SF3B2splicing factor 3b subunit 2 | Ikke registrert | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ikke registrert | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registrert | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ikke registrert | I 1 tilstand |
| SYCE1synaptonemal complex central element protein 1 | Ikke registrert | I 1 tilstand |
| TBX15T-box transcription factor 15 | Ikke registrert | I 1 tilstand |
| TUBGCP4tubulin gamma complex component 4 | Ikke registrert | I 1 tilstand |
| TUBGCP6tubulin gamma complex component 6 | Ikke registrert | I 1 tilstand |
| WDR73WD repeat domain 73 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker