Egenskap
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical.
Sammendrag
- Også kalt
- Deep set eye, Deep-set eyes, Sunken eye, Enophthalmos, Ocular depression, Sunken eyes
- Kroppssystem
- Abnormality of the eye
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Deeply set eye 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 |
|---|---|---|
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Alltid | I 1 tilstand |
| ASH1LASH1 like histone lysine methyltransferase | Alltid | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Alltid | I 1 tilstand |
| BUD13BUD13 spliceosome associated protein | Alltid | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Alltid | I 1 tilstand |
| COA3cytochrome c oxidase assembly factor 3 | Alltid | I 1 tilstand |
| COX8Acytochrome c oxidase subunit 8A | Alltid | I 1 tilstand |
| DCPSdecapping enzyme, scavenger | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Alltid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alltid | I 1 tilstand |
| EPB41L1erythrocyte membrane protein band 4.1 like 1 | Alltid | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Alltid | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Alltid | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alltid | I 3 tilstander |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Alltid | I 4 tilstander |
| EXOSC2exosome component 2 | Alltid | I 1 tilstand |
| FARSAphenylalanyl-tRNA synthetase subunit alpha | Alltid | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alltid | I 1 tilstand |
| FBN1fibrillin 1 | Alltid | I 3 tilstander |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Alltid | I 2 tilstander |
| HS6ST2heparan sulfate 6-O-sulfotransferase 2 | Alltid | I 1 tilstand |
| IKZF2IKAROS family zinc finger 2 | Alltid | I 1 tilstand |
| JAG1jagged canonical Notch ligand 1 | Alltid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alltid | I 1 tilstand |
| KDM6Blysine demethylase 6B | Alltid | I 1 tilstand |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Alltid | I 2 tilstander |
| LIFRLIF receptor subunit alpha | Alltid | I 1 tilstand |
| MAD1L1mitotic arrest deficient 1 like 1 | Alltid | I 1 tilstand |
| MEIS2Meis homeobox 2 | Alltid | I 2 tilstander |
| MYH3myosin heavy chain 3 | Alltid | I 2 tilstander |
| PAK1p21 (RAC1) activated kinase 1 | Alltid | I 1 tilstand |
| PDCD6IPprogrammed cell death 6 interacting protein | Alltid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alltid | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Alltid | I 2 tilstander |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Alltid | I 1 tilstand |
| PLECplectin | Alltid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Alltid | I 2 tilstander |
| PYCR1pyrroline-5-carboxylate reductase 1 | Alltid | I 2 tilstander |
Vis 251 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alltid | I 1 tilstand |
| RBSNrabenosyn, RAB effector | Alltid | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Alltid | I 1 tilstand |
| SPIN4spindlin family member 4 | Alltid | I 1 tilstand |
| STIM1stromal interaction molecule 1 | Alltid | I 2 tilstander |
| SUOXsulfite oxidase | Alltid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Alltid | I 2 tilstander |
| TBCEtubulin folding cofactor E | Alltid | I 2 tilstander |
| TBX15T-box transcription factor 15 | Alltid | I 2 tilstander |
| TCF4transcription factor 4 | Alltid | I 2 tilstander |
| THOC6THO complex subunit 6 | Alltid | I 2 tilstander |
| TPRtranslocated promoter region, nuclear basket protein | Alltid | I 1 tilstand |
| TPRKBTP53RK binding protein | Alltid | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Alltid | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 1 tilstand |
| YARS1tyrosyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| ZPR1ZPR1 zinc finger | Alltid | I 1 tilstand |
| CASZ1castor zinc finger 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DHPSdeoxyhypusine synthase | Svært ofte (80–99 %) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Svært ofte (80–99 %) | I 1 tilstand |
| EMC1ER membrane protein complex subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Svært ofte (80–99 %) | I 3 tilstander |
| FMR1fragile X messenger ribonucleoprotein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Svært ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Svært ofte (80–99 %) | I 2 tilstander |
| HSPG2heparan sulfate proteoglycan 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| LAS1LLAS1 like ribosome biogenesis factor | Svært ofte (80–99 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Svært ofte (80–99 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Svært ofte (80–99 %) | I 2 tilstander |
| ORAI1ORAI calcium release-activated calcium modulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PDPNpodoplanin | Svært ofte (80–99 %) | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| POLR3ARNA polymerase III subunit A | Svært ofte (80–99 %) | I 3 tilstander |
| PRDM16PR/SET domain 16 | Svært ofte (80–99 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Svært ofte (80–99 %) | I 1 tilstand |
| RAI1retinoic acid induced 1 | Svært ofte (80–99 %) | I 2 tilstander |
| REREarginine-glutamic acid dipeptide repeats | Svært ofte (80–99 %) | I 2 tilstander |
| SH3PXD2BSH3 and PX domains 2B | Svært ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Svært ofte (80–99 %) | I 1 tilstand |
| SONSON DNA and RNA binding protein | Svært ofte (80–99 %) | I 2 tilstander |
| SPENspen family transcriptional repressor | Svært ofte (80–99 %) | I 2 tilstander |
| SSR4signal sequence receptor subunit 4 | Svært ofte (80–99 %) | I 2 tilstander |
| STAG1STAG1 cohesin complex component | Svært ofte (80–99 %) | I 2 tilstander |
| TBC1D7TBC1 domain family member 7 | Svært ofte (80–99 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Svært ofte (80–99 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Svært 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| OPHN1oligophrenin 1 | Ofte (30–79 %) | I 2 tilstander |
| PAK3p21 (RAC1) activated kinase 3 | Ofte (30–79 %) | I 1 tilstand |
| PHF6PHD finger protein 6 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| TBC1D20TBC1 domain family member 20 | Ofte (30–79 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Ofte (30–79 %) | I 2 tilstander |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| ZNF668zinc finger protein 668 | Ofte (30–79 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD17ankyrin repeat domain 17 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Noen ganger (5–29 %) | I 2 tilstander |
| ATXN7L3ataxin 7 like 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Gcalcium voltage-gated channel subunit alpha1 G | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Noen ganger (5–29 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDH2cadherin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Noen ganger (5–29 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Noen ganger (5–29 %) | I 1 tilstand |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF5Aeukaryotic translation initiation factor 5A | Noen ganger (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FIBPFGF1 intracellular binding protein | Noen ganger (5–29 %) | I 2 tilstander |
| FOXF1forkhead box F1 | Noen ganger (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Noen ganger (5–29 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Noen ganger (5–29 %) | I 2 tilstander |
| GJA5gap junction protein alpha 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GPKOWG-patch domain and KOW motifs | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT56intraflagellar transport 56 | Noen ganger (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Noen ganger (5–29 %) | I 2 tilstander |
| KMT2Blysine methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| LEMD3LEM domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Noen ganger (5–29 %) | I 1 tilstand |
| MED16mediator complex subunit 16 | Noen ganger (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MIPEPmitochondrial intermediate peptidase | Noen ganger (5–29 %) | I 1 tilstand |
| MSL3MSL complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NFIXnuclear factor I X | Noen ganger (5–29 %) | I 1 tilstand |
| NOVA2NOVA alternative splicing regulator 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PLAAT3phospholipase A and acyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POC1APOC1 centriolar protein A | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Noen ganger (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Noen ganger (5–29 %) | I 1 tilstand |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Noen ganger (5–29 %) | I 2 tilstander |
| SETBP1SET binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Noen ganger (5–29 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Noen ganger (5–29 %) | I 2 tilstander |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TBCBtubulin folding cofactor B | Noen ganger (5–29 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Noen ganger (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Noen ganger (5–29 %) | I 2 tilstander |
| TRIM8tripartite motif containing 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| TTI2TELO2 interacting protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| WACWW domain containing adaptor with coiled-coil | Noen ganger (5–29 %) | I 3 tilstander |
| WASF1WASP family member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Noen ganger (5–29 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Sjelden (1–4%) | I 2 tilstander |
| RNU4-2RNA, U4 small nuclear 2 | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| UGDHUDP-glucose 6-dehydrogenase | Sjelden (1–4%) | I 1 tilstand |
| AGLamylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase | Ikke registrert | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ikke registrert | I 1 tilstand |
| ATN1atrophin 1 | Ikke registrert | I 1 tilstand |
| CENPFcentromere protein F | Ikke registrert | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Ikke registrert | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Ikke registrert | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ikke registrert | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ikke registrert | I 1 tilstand |
| FBXO11F-box protein 11 | Ikke registrert | I 1 tilstand |
| GSCgoosecoid homeobox | Ikke registrert | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ikke registrert | I 1 tilstand |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registrert | I 1 tilstand |
| OSGEPO-sialoglycoprotein endopeptidase | Ikke registrert | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Ikke registrert | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ikke registrert | I 1 tilstand |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| SEPTIN9septin 9 | Ikke registrert | I 1 tilstand |
| SLC35A1solute carrier family 35 member A1 | Ikke registrert | I 1 tilstand |
| SMAD4SMAD family member 4 | Ikke registrert | I 1 tilstand |
| SRCSRC proto-oncogene, non-receptor tyrosine kinase | Ikke registrert | I 1 tilstand |
| TCF20transcription factor 20 | Ikke registrert | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ikke registrert | I 1 tilstand |
| TMEM94transmembrane protein 94 | Ikke registrert | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Ikke registrert | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ikke registrert | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | 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.
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