Træk
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical.
Resumé
- Også kaldet
- Deep set eye, Deep-set eyes, Sunken eye, Enophthalmos, Ocular depression, Sunken eyes
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test291 gener knyttet til Deeply set eye
Ændringer i disse gener forårsager sjældne tilstande, hvor Deeply set eye ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Altid | I 1 tilstand |
| ASH1LASH1 like histone lysine methyltransferase | Altid | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Altid | I 1 tilstand |
| BUD13BUD13 spliceosome associated protein | Altid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Altid | I 1 tilstand |
| COA3cytochrome c oxidase assembly factor 3 | Altid | I 1 tilstand |
| COX8Acytochrome c oxidase subunit 8A | Altid | I 1 tilstand |
| DCPSdecapping enzyme, scavenger | Altid | I 1 tilstand |
| DNM1Ldynamin 1L | Altid | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Altid | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Altid | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Altid | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altid | I 3 tilstande |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altid | I 4 tilstande |
| EXOSC2exosome component 2 | Altid | I 1 tilstand |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Altid | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Altid | I 1 tilstand |
| FBN1fibrillin 1 | Altid | I 3 tilstande |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Altid | I 2 tilstande |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Altid | I 1 tilstand |
| IKZF2IKAROS family zinc finger 2 | Altid | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Altid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Altid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Altid | I 2 tilstande |
| LIFRLIF receptor subunit alpha | Altid | I 1 tilstand |
| MAD1L1mitotic arrest deficient 1 like 1 | Altid | I 1 tilstand |
| MEIS2Meis homeobox 2 | Altid | I 2 tilstande |
| MYH3myosin heavy chain 3 | Altid | I 2 tilstande |
| PAK1p21 (RAC1) activated kinase 1 | Altid | I 1 tilstand |
| PDCD6IPprogrammed cell death 6 interacting protein | Altid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Altid | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altid | I 2 tilstande |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Altid | I 1 tilstand |
| PLECplectin | Altid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Altid | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Altid | I 2 tilstande |
| PYCR1pyrroline-5-carboxylate reductase 1 | Altid | I 2 tilstande |
Vis 251 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Altid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Altid | I 1 tilstand |
| SPIN4spindlin family member 4 | Altid | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Altid | I 2 tilstande |
| SUOXsulfite oxidase | Altid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Altid | I 2 tilstande |
| TBCEtubulin folding cofactor E | Altid | I 2 tilstande |
| TBX15T-box transcription factor 15 | Altid | I 2 tilstande |
| TCF4transcription factor 4 | Altid | I 2 tilstande |
| THOC6THO complex subunit 6 | Altid | I 2 tilstande |
| TPRtranslocated promoter region, nuclear basket protein | Altid | I 1 tilstand |
| TPRKBTP53RK binding protein | Altid | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Altid | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Altid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Altid | I 1 tilstand |
| YARS1tyrosyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| ZPR1ZPR1 zinc finger | Altid | I 1 tilstand |
| CASZ1castor zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DHPSdeoxyhypusine synthase | Meget ofte (80–99 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Meget ofte (80–99 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Meget ofte (80–99 %) | I 3 tilstande |
| FMR1fragile X messenger ribonucleoprotein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 2 tilstande |
| HSPG2heparan sulfate proteoglycan 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| LAS1LLAS1 like ribosome biogenesis factor | Meget ofte (80–99 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Meget ofte (80–99 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Meget ofte (80–99 %) | I 2 tilstande |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PDPNpodoplanin | Meget ofte (80–99 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Meget ofte (80–99 %) | I 2 tilstande |
| POLR3ARNA polymerase III subunit A | Meget ofte (80–99 %) | I 3 tilstande |
| PRDM16PR/SET domain 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Meget ofte (80–99 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Meget ofte (80–99 %) | I 2 tilstande |
| REREarginine-glutamic acid dipeptide repeats | Meget ofte (80–99 %) | I 2 tilstande |
| SH3PXD2BSH3 and PX domains 2B | Meget ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Meget ofte (80–99 %) | I 2 tilstande |
| SPENspen family transcriptional repressor | Meget ofte (80–99 %) | I 2 tilstande |
| SSR4signal sequence receptor subunit 4 | Meget ofte (80–99 %) | I 2 tilstande |
| STAG1STAG1 cohesin complex component | Meget ofte (80–99 %) | I 2 tilstande |
| TBC1D7TBC1 domain family member 7 | Meget ofte (80–99 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Meget ofte (80–99 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Meget ofte (80–99 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Ofte (30–79 %) | I 1 tilstand |
| ACTBactin beta | Ofte (30–79 %) | I 1 tilstand |
| AGO2argonaute RISC catalytic component 2 | Ofte (30–79 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Ofte (30–79 %) | I 1 tilstand |
| BPTFbromodomain PHD finger transcription factor | Ofte (30–79 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 2 tilstande |
| CEP57centrosomal protein 57 | Ofte (30–79 %) | I 1 tilstand |
| CHN1chimerin 1 | Ofte (30–79 %) | I 1 tilstand |
| COL5A1collagen type V alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COX5Acytochrome c oxidase subunit 5A | Ofte (30–79 %) | I 1 tilstand |
| CRKLCRK like proto-oncogene, adaptor protein | Ofte (30–79 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Ofte (30–79 %) | I 1 tilstand |
| DPH5diphthamide biosynthesis 5 | Ofte (30–79 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 3 tilstande |
| EBF3EBF transcription factor 3 | Ofte (30–79 %) | I 1 tilstand |
| FAM177A1family with sequence similarity 177 member A1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO31F-box protein 31 | Ofte (30–79 %) | I 1 tilstand |
| FEM1Bfem-1 homolog B | Ofte (30–79 %) | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ofte (30–79 %) | I 2 tilstande |
| GLYCTKglycerate kinase | Ofte (30–79 %) | I 1 tilstand |
| GNSglucosamine (N-acetyl)-6-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| GORABgolgin, RAB6 interacting | Ofte (30–79 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 2 tilstande |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ofte (30–79 %) | I 1 tilstand |
| HHAThedgehog acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Ofte (30–79 %) | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ofte (30–79 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 1 tilstand |
| KCNK4potassium two pore domain channel subfamily K member 4 | Ofte (30–79 %) | I 1 tilstand |
| KIDINS220kinase D interacting substrate 220 | Ofte (30–79 %) | I 2 tilstande |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ofte (30–79 %) | I 1 tilstand |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Ofte (30–79 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Ofte (30–79 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| MEF2Cmyocyte enhancer factor 2C | Ofte (30–79 %) | I 2 tilstande |
| MSL2MSL complex subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Ofte (30–79 %) | I 1 tilstand |
| NALCNsodium leak channel, non-selective | Ofte (30–79 %) | I 1 tilstand |
| NGFnerve growth factor | Ofte (30–79 %) | I 1 tilstand |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| ODC1ornithine decarboxylase 1 | Ofte (30–79 %) | I 2 tilstande |
| OPHN1oligophrenin 1 | Ofte (30–79 %) | I 2 tilstande |
| PAK3p21 (RAC1) activated kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| PHF6PHD finger protein 6 | Ofte (30–79 %) | I 2 tilstande |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Ofte (30–79 %) | I 1 tilstand |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ofte (30–79 %) | I 1 tilstand |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 1 tilstand |
| PUS7pseudouridine synthase 7 | Ofte (30–79 %) | I 1 tilstand |
| RECQLRecQ like helicase | Ofte (30–79 %) | I 1 tilstand |
| RNF2ring finger protein 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Ofte (30–79 %) | I 2 tilstande |
| SEPHS1selenophosphate synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Ofte (30–79 %) | I 1 tilstand |
| SPOPspeckle type BTB/POZ protein | Ofte (30–79 %) | I 2 tilstande |
| SRRM2serine/arginine repetitive matrix 2 | Ofte (30–79 %) | I 1 tilstand |
| STAT3signal transducer and activator of transcription 3 | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 2 tilstande |
| TBC1D20TBC1 domain family member 20 | Ofte (30–79 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ofte (30–79 %) | I 2 tilstande |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 2 tilstande |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Ofte (30–79 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Ofte (30–79 %) | I 1 tilstand |
| WSB2WD repeat and SOCS box containing 2 | Ofte (30–79 %) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 3 tilstande |
| ZNF668zinc finger protein 668 | Ofte (30–79 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Nogle gange (5–29 %) | I 2 tilstande |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD17ankyrin repeat domain 17 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Nogle gange (5–29 %) | I 2 tilstande |
| ATXN7L3ataxin 7 like 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Nogle gange (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Nogle gange (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Nogle gange (5–29 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDH2cadherin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Nogle gange (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Nogle gange (5–29 %) | I 1 tilstand |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Nogle gange (5–29 %) | I 1 tilstand |
| EIF5Aeukaryotic translation initiation factor 5A | Nogle gange (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Nogle gange (5–29 %) | I 2 tilstande |
| FOXF1forkhead box F1 | Nogle gange (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Nogle gange (5–29 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Nogle gange (5–29 %) | I 2 tilstande |
| GJA5gap junction protein alpha 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Nogle gange (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GPKOWG-patch domain and KOW motifs | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Nogle gange (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Nogle gange (5–29 %) | I 2 tilstande |
| KMT2Blysine methyltransferase 2B | Nogle gange (5–29 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Nogle gange (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Nogle gange (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MIPEPmitochondrial intermediate peptidase | Nogle gange (5–29 %) | I 1 tilstand |
| MSL3MSL complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Nogle gange (5–29 %) | I 1 tilstand |
| NOVA2NOVA alternative splicing regulator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Nogle gange (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PLAAT3phospholipase A and acyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POC1APOC1 centriolar protein A | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Nogle gange (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Nogle gange (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Nogle gange (5–29 %) | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Nogle gange (5–29 %) | I 2 tilstande |
| SETBP1SET binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Nogle gange (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Nogle gange (5–29 %) | I 2 tilstande |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCBtubulin folding cofactor B | Nogle gange (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Nogle gange (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Nogle gange (5–29 %) | I 2 tilstande |
| TRIM8tripartite motif containing 8 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| TTI2TELO2 interacting protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| WACWW domain containing adaptor with coiled-coil | Nogle gange (5–29 %) | I 3 tilstande |
| WASF1WASP family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Nogle gange (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Sjældent (1–4%) | I 2 tilstande |
| RNU4-2RNA, U4 small nuclear 2 | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Sjældent (1–4%) | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ikke registreret | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ikke registreret | I 1 tilstand |
| ATN1atrophin 1 | Ikke registreret | I 1 tilstand |
| CENPFcentromere protein F | Ikke registreret | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Ikke registreret | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Ikke registreret | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ikke registreret | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registreret | I 1 tilstand |
| FBXO11F-box protein 11 | Ikke registreret | I 1 tilstand |
| GSCgoosecoid homeobox | Ikke registreret | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ikke registreret | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registreret | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registreret | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Ikke registreret | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ikke registreret | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| SEPTIN9septin 9 | Ikke registreret | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registreret | I 1 tilstand |
| SMAD4SMAD family member 4 | Ikke registreret | I 1 tilstand |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registreret | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ikke registreret | I 1 tilstand |
| TMEM94transmembrane protein 94 | Ikke registreret | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registreret | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ikke registreret | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger