Træk
Hunched back
Klinisk navn: Kyphosis
Exaggerated anterior convexity of the thoracic vertebral column.
Resumé
- Også kaldet
- Round back, Gibbus deformity, Hyperkyphosis
- Kropssystem
- Abnormality of the musculoskeletal system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test315 gener knyttet til Hunched back
Ændringer i disse gener forårsager sjældne tilstande, hvor Hunched back 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 |
|---|---|---|
| ATRXATRX chromatin remodeler | Altid | I 2 tilstande |
| COL12A1collagen type XII alpha 1 chain | Altid | I 3 tilstande |
| DSTdystonin | Altid | I 1 tilstand |
| DYMdymeclin | Altid | I 2 tilstande |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altid | I 1 tilstand |
| FBN1fibrillin 1 | Altid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Altid | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Altid | I 1 tilstand |
| GLB1galactosidase beta 1 | Altid | I 3 tilstande |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Altid | I 2 tilstande |
| GPR101G protein-coupled receptor 101 | Altid | I 2 tilstande |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Altid | I 2 tilstande |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Altid | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Altid | I 1 tilstand |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Altid | I 1 tilstand |
| MFN2mitofusin 2 | Altid | I 2 tilstande |
| MMP14matrix metallopeptidase 14 | Altid | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altid | I 3 tilstande |
| PLAAphospholipase A2 activating protein | Altid | I 2 tilstande |
| SMAD4SMAD family member 4 | Altid | I 1 tilstand |
| SRSF1serine and arginine rich splicing factor 1 | Altid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Altid | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Altid | I 7 tilstande |
| VAMP1vesicle associated membrane protein 1 | Altid | I 1 tilstand |
| VPS37AVPS37A subunit of ESCRT-I | Altid | I 2 tilstande |
| ZMYM3zinc finger MYM-type containing 3 | Altid | I 1 tilstand |
| ZNF407zinc finger protein 407 | Altid | I 1 tilstand |
| ACTBactin beta | Meget ofte (80–99 %) | I 2 tilstande |
| AKT1AKT serine/threonine kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CLCF1cardiotrophin like cytokine factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Meget ofte (80–99 %) | I 3 tilstande |
| COL6A2collagen type VI alpha 2 chain | Meget ofte (80–99 %) | I 2 tilstande |
| COL6A3collagen type VI alpha 3 chain | Meget ofte (80–99 %) | I 2 tilstande |
| CRLF1cytokine receptor like factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Meget ofte (80–99 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Meget ofte (80–99 %) | I 4 tilstande |
| FUCA1alpha-L-fucosidase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| ROBO3roundabout guidance receptor 3 | Meget ofte (80–99 %) | I 1 tilstand |
Vis 275 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| RPS6KA3ribosomal protein S6 kinase A3 | Meget ofte (80–99 %) | I 3 tilstande |
| ZBTB20zinc finger and BTB domain containing 20 | Meget ofte (80–99 %) | I 2 tilstande |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ofte (30–79 %) | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Ofte (30–79 %) | I 2 tilstande |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 2 tilstande |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofte (30–79 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Ofte (30–79 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| CBScystathionine beta-synthase | Ofte (30–79 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Ofte (30–79 %) | I 1 tilstand |
| CCDC32coiled-coil domain containing 32 | Ofte (30–79 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ofte (30–79 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Ofte (30–79 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Ofte (30–79 %) | I 4 tilstande |
| COPB1coat protein complex I subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 2 tilstande |
| CRTAPcartilage associated protein | Ofte (30–79 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| DICER1dicer 1, ribonuclease III | Ofte (30–79 %) | I 1 tilstand |
| DLL3delta like canonical Notch ligand 3 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ofte (30–79 %) | I 2 tilstande |
| EIF4Heukaryotic translation initiation factor 4H | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 3 tilstande |
| EXTL3exostosin like glycosyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| FKBP10FKBP prolyl isomerase 10 | Ofte (30–79 %) | I 2 tilstande |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Ofte (30–79 %) | I 1 tilstand |
| FOXC2forkhead box C2 | Ofte (30–79 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Ofte (30–79 %) | I 2 tilstande |
| GTF2Igeneral transcription factor IIi | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| GUSBglucuronidase beta | Ofte (30–79 %) | I 1 tilstand |
| H4C9H4 clustered histone 9 | Ofte (30–79 %) | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 2 tilstande |
| HDAC4histone deacetylase 4 | Ofte (30–79 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Ofte (30–79 %) | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Ofte (30–79 %) | I 1 tilstand |
| HGDhomogentisate 1,2-dioxygenase | Ofte (30–79 %) | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 2 tilstande |
| ITGAVintegrin subunit alpha V | Ofte (30–79 %) | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Ofte (30–79 %) | I 1 tilstand |
| KIF22kinesin family member 22 | Ofte (30–79 %) | I 2 tilstande |
| KLC2kinesin light chain 2 | Ofte (30–79 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Ofte (30–79 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Ofte (30–79 %) | I 1 tilstand |
| LBRlamin B receptor | Ofte (30–79 %) | I 2 tilstande |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 2 tilstande |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Ofte (30–79 %) | I 2 tilstande |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ofte (30–79 %) | I 3 tilstande |
| MESP2mesoderm posterior bHLH transcription factor 2 | Ofte (30–79 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Ofte (30–79 %) | I 1 tilstand |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofte (30–79 %) | I 2 tilstande |
| MKRN3makorin ring finger protein 3 | Ofte (30–79 %) | I 1 tilstand |
| MYO1Hmyosin IH | Ofte (30–79 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Ofte (30–79 %) | I 1 tilstand |
| NELFAnegative elongation factor complex member A | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NONOnon-POU domain containing octamer binding | Ofte (30–79 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NPR2natriuretic peptide receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Ofte (30–79 %) | I 2 tilstande |
| NXNnucleoredoxin | Ofte (30–79 %) | I 1 tilstand |
| P4HBprolyl 4-hydroxylase subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofte (30–79 %) | I 1 tilstand |
| PLAAT3phospholipase A and acyltransferase 3 | Ofte (30–79 %) | I 1 tilstand |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Ofte (30–79 %) | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Ofte (30–79 %) | I 1 tilstand |
| PPIBpeptidylprolyl isomerase B | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Ofte (30–79 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| RIPPLY2ripply transcriptional repressor 2 | Ofte (30–79 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ofte (30–79 %) | I 1 tilstand |
| SEC24DSEC24 homolog D, COPII component | Ofte (30–79 %) | I 2 tilstande |
| SH3PXD2BSH3 and PX domains 2B | Ofte (30–79 %) | I 2 tilstande |
| SHROOM4shroom family member 4 | Ofte (30–79 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SMSspermine synthase | Ofte (30–79 %) | I 1 tilstand |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Ofte (30–79 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Ofte (30–79 %) | I 1 tilstand |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Ofte (30–79 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Ofte (30–79 %) | I 1 tilstand |
| SVILsupervillin | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Ofte (30–79 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Ofte (30–79 %) | I 1 tilstand |
| TBX5T-box transcription factor 5 | Ofte (30–79 %) | I 1 tilstand |
| TBX6T-box transcription factor 6 | Ofte (30–79 %) | I 1 tilstand |
| TLK2tousled like kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Ofte (30–79 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Ofte (30–79 %) | I 2 tilstande |
| VPS35LVPS35 endosomal protein sorting factor like | Ofte (30–79 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Ofte (30–79 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Ofte (30–79 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Ofte (30–79 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| AEBP1AE binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Nogle gange (5–29 %) | I 2 tilstande |
| AUTS2activator of transcription and developmental regulator AUTS2 | Nogle gange (5–29 %) | I 2 tilstande |
| BCL11ABCL11 transcription factor A | Nogle gange (5–29 %) | I 1 tilstand |
| BCORBCL6 corepressor | Nogle gange (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Nogle gange (5–29 %) | I 2 tilstande |
| CASZ1castor zinc finger 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Nogle gange (5–29 %) | I 1 tilstand |
| CCN2cellular communication network factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CCND1cyclin D1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Nogle gange (5–29 %) | I 2 tilstande |
| CHD8chromodomain helicase DNA binding protein 8 | Nogle gange (5–29 %) | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Nogle gange (5–29 %) | I 1 tilstand |
| CUL4Bcullin 4B | Nogle gange (5–29 %) | I 2 tilstande |
| CUL7cullin 7 | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 1 tilstand |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Nogle gange (5–29 %) | I 2 tilstande |
| EMDemerin | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Nogle gange (5–29 %) | I 3 tilstande |
| FA2Hfatty acid 2-hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Nogle gange (5–29 %) | I 3 tilstande |
| FLVCR1FLVCR choline and heme transporter 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GJB1gap junction protein beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| INPP5Kinositol polyphosphate-5-phosphatase K | Nogle gange (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| LGI3leucine rich repeat LGI family member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LMNAlamin A/C | Nogle gange (5–29 %) | I 2 tilstande |
| LRP5LDL receptor related protein 5 | Nogle gange (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MCM3APminichromosome maintenance complex component 3 associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Nogle gange (5–29 %) | I 2 tilstande |
| MED25mediator complex subunit 25 | Nogle gange (5–29 %) | I 2 tilstande |
| MEIS2Meis homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 2 tilstande |
| NOTCH2notch receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Nogle gange (5–29 %) | I 2 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NTNG1netrin G1 | Nogle gange (5–29 %) | I 1 tilstand |
| NUP88nucleoporin 88 | Nogle gange (5–29 %) | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Nogle gange (5–29 %) | I 2 tilstande |
| PDPNpodoplanin | Nogle gange (5–29 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM13PR/SET domain 13 | Nogle gange (5–29 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Nogle gange (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Nogle gange (5–29 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Nogle gange (5–29 %) | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 2 tilstande |
| RELREL proto-oncogene, NF-kB subunit | Nogle gange (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Nogle gange (5–29 %) | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Nogle gange (5–29 %) | I 2 tilstande |
| SCAF4SR-related CTD associated factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Nogle gange (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Nogle gange (5–29 %) | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Nogle gange (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Nogle gange (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Nogle gange (5–29 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Nogle gange (5–29 %) | I 4 tilstande |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TBX2T-box transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF12transcription factor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM43transmembrane protein 43 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Nogle gange (5–29 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Nogle gange (5–29 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Nogle gange (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Nogle gange (5–29 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Nogle gange (5–29 %) | I 1 tilstand |
| WNT1Wnt family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| WNT3AWnt family member 3A | Nogle gange (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Nogle gange (5–29 %) | I 3 tilstande |
| ACBD6acyl-CoA binding domain containing 6 | Sjældent (1–4%) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Sjældent (1–4%) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Sjældent (1–4%) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjældent (1–4%) | I 1 tilstand |
| CFL2cofilin 2 | Sjældent (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjældent (1–4%) | I 1 tilstand |
| CTSKcathepsin K | Sjældent (1–4%) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sjældent (1–4%) | I 1 tilstand |
| KLHL41kelch like family member 41 | Sjældent (1–4%) | I 1 tilstand |
| LMOD3leiomodin 3 | Sjældent (1–4%) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Sjældent (1–4%) | I 1 tilstand |
| NEBnebulin | Sjældent (1–4%) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| TPM2tropomyosin 2 | Sjældent (1–4%) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Ikke registreret | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registreret | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ikke registreret | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ikke registreret | I 1 tilstand |
| BGNbiglycan | Ikke registreret | I 1 tilstand |
| BIN1bridging integrator 1 | Ikke registreret | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registreret | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registreret | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Ikke registreret | I 3 tilstande |
| COL1A2collagen type I alpha 2 chain | Ikke registreret | I 3 tilstande |
| COMPcartilage oligomeric matrix protein | Ikke registreret | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Ikke registreret | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Ikke registreret | I 1 tilstand |
| FKRPfukutin related protein | Ikke registreret | I 2 tilstande |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Ikke registreret | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registreret | I 1 tilstand |
| GNASGNAS complex locus | Ikke registreret | I 1 tilstand |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Ikke registreret | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Ikke registreret | I 1 tilstand |
| HTThuntingtin | Ikke registreret | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registreret | I 1 tilstand |
| IDUAalpha-L-iduronidase | Ikke registreret | I 2 tilstande |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registreret | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Ikke registreret | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Ikke registreret | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Ikke registreret | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Ikke registreret | I 1 tilstand |
| P3H1prolyl 3-hydroxylase 1 | Ikke registreret | I 1 tilstand |
| PDE11Aphosphodiesterase 11A | Ikke registreret | I 1 tilstand |
| PHF6PHD finger protein 6 | Ikke registreret | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registreret | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ikke registreret | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ikke registreret | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ikke registreret | I 1 tilstand |
| RETret proto-oncogene | Ikke registreret | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Ikke registreret | I 1 tilstand |
| SETD5SET domain containing 5 | Ikke registreret | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Ikke registreret | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Ikke registreret | I 1 tilstand |
| SONSON DNA and RNA binding protein | Ikke registreret | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registreret | I 1 tilstand |
| TNFRSF11BTNF receptor superfamily member 11b | Ikke registreret | I 1 tilstand |
| TOR1Atorsin family 1 member A | Ikke registreret | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registreret | I 1 tilstand |
| TRAPPC2trafficking protein particle complex subunit 2 | Ikke registreret | I 1 tilstand |
| USP8ubiquitin specific peptidase 8 | Ikke registreret | I 1 tilstand |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | 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.
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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