Egenskap
Hunched back
Klinisk navn: Kyphosis
Exaggerated anterior convexity of the thoracic vertebral column.
Sammendrag
- Også kalt
- Round back, Gibbus deformity, Hyperkyphosis
- Kroppssystem
- Abnormality of the musculoskeletal system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test315 gener knyttet til Hunched back
Endringer i disse genene forårsaker sjeldne tilstander der Hunched back 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 |
|---|---|---|
| ATRXATRX chromatin remodeler | Alltid | I 2 tilstander |
| COL12A1collagen type XII alpha 1 chain | Alltid | I 3 tilstander |
| DSTdystonin | Alltid | I 1 tilstand |
| DYMdymeclin | Alltid | I 2 tilstander |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| FBN1fibrillin 1 | Alltid | I 1 tilstand |
| FEM1Bfem-1 homolog B | Alltid | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Alltid | I 1 tilstand |
| GLB1galactosidase beta 1 | Alltid | I 3 tilstander |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Alltid | I 2 tilstander |
| GPR101G protein-coupled receptor 101 | Alltid | I 2 tilstander |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Alltid | I 2 tilstander |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Alltid | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Alltid | I 1 tilstand |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Alltid | I 1 tilstand |
| MFN2mitofusin 2 | Alltid | I 2 tilstander |
| MMP14matrix metallopeptidase 14 | Alltid | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Alltid | I 3 tilstander |
| PLAAphospholipase A2 activating protein | Alltid | I 2 tilstander |
| SMAD4SMAD family member 4 | Alltid | I 1 tilstand |
| SRSF1serine and arginine rich splicing factor 1 | Alltid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Alltid | I 7 tilstander |
| VAMP1vesicle associated membrane protein 1 | Alltid | I 1 tilstand |
| VPS37AVPS37A subunit of ESCRT-I | Alltid | I 2 tilstander |
| ZMYM3zinc finger MYM-type containing 3 | Alltid | I 1 tilstand |
| ZNF407zinc finger protein 407 | Alltid | I 1 tilstand |
| ACTBactin beta | Svært ofte (80–99 %) | I 2 tilstander |
| AKT1AKT serine/threonine kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CLCF1cardiotrophin like cytokine factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Svært ofte (80–99 %) | I 3 tilstander |
| COL6A2collagen type VI alpha 2 chain | Svært ofte (80–99 %) | I 2 tilstander |
| COL6A3collagen type VI alpha 3 chain | Svært ofte (80–99 %) | I 2 tilstander |
| CRLF1cytokine receptor like factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CTDP1CTD phosphatase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Svært ofte (80–99 %) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Svært ofte (80–99 %) | I 4 tilstander |
| FUCA1alpha-L-fucosidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ROBO3roundabout guidance receptor 3 | Svært ofte (80–99 %) | I 1 tilstand |
Vis 275 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| RPS6KA3ribosomal protein S6 kinase A3 | Svært ofte (80–99 %) | I 3 tilstander |
| ZBTB20zinc finger and BTB domain containing 20 | Svært ofte (80–99 %) | I 2 tilstander |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ofte (30–79 %) | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Ofte (30–79 %) | I 2 tilstander |
| ALMS1ALMS1 centrosome and basal body associated protein | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| COPB1coat protein complex I subunit beta 1 | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 2 tilstander |
| CRTAPcartilage associated protein | Ofte (30–79 %) | I 1 tilstand |
| CTBP1C-terminal binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 2 tilstander |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Ofte (30–79 %) | I 2 tilstander |
| LIMK1LIM domain kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ofte (30–79 %) | I 3 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| SH3PXD2BSH3 and PX domains 2B | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| AEBP1AE binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL2ASXL transcriptional regulator 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Noen ganger (5–29 %) | I 2 tilstander |
| AUTS2activator of transcription and developmental regulator AUTS2 | Noen ganger (5–29 %) | I 2 tilstander |
| BCL11ABCL11 transcription factor A | Noen ganger (5–29 %) | I 1 tilstand |
| BCORBCL6 corepressor | Noen ganger (5–29 %) | I 1 tilstand |
| BICD2BICD cargo adaptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| CASZ1castor zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Noen ganger (5–29 %) | I 1 tilstand |
| CCN2cellular communication network factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CCND1cyclin D1 | Noen ganger (5–29 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Noen ganger (5–29 %) | I 2 tilstander |
| CHD8chromodomain helicase DNA binding protein 8 | Noen ganger (5–29 %) | I 1 tilstand |
| CSF1Rcolony stimulating factor 1 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| CUL4Bcullin 4B | Noen ganger (5–29 %) | I 2 tilstander |
| CUL7cullin 7 | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 1 tilstand |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Noen ganger (5–29 %) | I 2 tilstander |
| EMDemerin | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Noen ganger (5–29 %) | I 3 tilstander |
| FA2Hfatty acid 2-hydroxylase | Noen ganger (5–29 %) | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Noen ganger (5–29 %) | I 3 tilstander |
| FLVCR1FLVCR choline and heme transporter 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| GBA2glucosylceramidase beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GJB1gap junction protein beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| INPP5Kinositol polyphosphate-5-phosphatase K | Noen ganger (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LGI3leucine rich repeat LGI family member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LMNAlamin A/C | Noen ganger (5–29 %) | I 2 tilstander |
| LRP5LDL receptor related protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MCM3APminichromosome maintenance complex component 3 associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MED25mediator complex subunit 25 | Noen ganger (5–29 %) | I 2 tilstander |
| MEIS2Meis homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NOTCH2notch receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Noen ganger (5–29 %) | I 2 tilstander |
| NSD1nuclear receptor binding SET domain protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NTNG1netrin G1 | Noen ganger (5–29 %) | I 1 tilstand |
| NUP88nucleoporin 88 | Noen ganger (5–29 %) | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Noen ganger (5–29 %) | I 2 tilstander |
| PDPNpodoplanin | Noen ganger (5–29 %) | I 1 tilstand |
| PI4KAphosphatidylinositol 4-kinase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PRDM13PR/SET domain 13 | Noen ganger (5–29 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Noen ganger (5–29 %) | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PSAPprosaposin | Noen ganger (5–29 %) | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Noen ganger (5–29 %) | I 2 tilstander |
| RELREL proto-oncogene, NF-kB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Noen ganger (5–29 %) | I 2 tilstander |
| SCAF4SR-related CTD associated factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Noen ganger (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| SLC5A7solute carrier family 5 member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Noen ganger (5–29 %) | I 4 tilstander |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX2T-box transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF12transcription factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFB1transforming growth factor beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM43transmembrane protein 43 | Noen ganger (5–29 %) | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Noen ganger (5–29 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Noen ganger (5–29 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Noen ganger (5–29 %) | I 1 tilstand |
| WNT1Wnt family member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WNT3AWnt family member 3A | Noen ganger (5–29 %) | I 1 tilstand |
| XPO1exportin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Noen ganger (5–29 %) | I 3 tilstander |
| ACBD6acyl-CoA binding domain containing 6 | Sjelden (1–4%) | I 1 tilstand |
| ACP5acid phosphatase 5, tartrate resistant | Sjelden (1–4%) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Sjelden (1–4%) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| CFL2cofilin 2 | Sjelden (1–4%) | I 1 tilstand |
| CTCFCCCTC-binding factor | Sjelden (1–4%) | I 1 tilstand |
| CTSKcathepsin K | Sjelden (1–4%) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sjelden (1–4%) | I 1 tilstand |
| KLHL41kelch like family member 41 | Sjelden (1–4%) | I 1 tilstand |
| LMOD3leiomodin 3 | Sjelden (1–4%) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Sjelden (1–4%) | I 1 tilstand |
| NEBnebulin | Sjelden (1–4%) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| TPM2tropomyosin 2 | Sjelden (1–4%) | I 1 tilstand |
| ABCC6ATP binding cassette subfamily C member 6 | Ikke registrert | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registrert | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ikke registrert | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Ikke registrert | I 1 tilstand |
| BGNbiglycan | Ikke registrert | I 1 tilstand |
| BIN1bridging integrator 1 | Ikke registrert | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Ikke registrert | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registrert | I 1 tilstand |
| COL1A1collagen type I alpha 1 chain | Ikke registrert | I 3 tilstander |
| COL1A2collagen type I alpha 2 chain | Ikke registrert | I 3 tilstander |
| COMPcartilage oligomeric matrix protein | Ikke registrert | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Ikke registrert | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Ikke registrert | I 1 tilstand |
| FKRPfukutin related protein | Ikke registrert | I 2 tilstander |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Ikke registrert | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ikke registrert | I 1 tilstand |
| GNASGNAS complex locus | Ikke registrert | I 1 tilstand |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Ikke registrert | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Ikke registrert | I 1 tilstand |
| HTThuntingtin | Ikke registrert | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registrert | I 1 tilstand |
| IDUAalpha-L-iduronidase | Ikke registrert | I 2 tilstander |
| KMT2Elysine methyltransferase 2E (inactive) | Ikke registrert | I 1 tilstand |
| L1CAML1 cell adhesion molecule | Ikke registrert | I 1 tilstand |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Ikke registrert | I 1 tilstand |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Ikke registrert | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Ikke registrert | I 1 tilstand |
| P3H1prolyl 3-hydroxylase 1 | Ikke registrert | I 1 tilstand |
| PDE11Aphosphodiesterase 11A | Ikke registrert | I 1 tilstand |
| PHF6PHD finger protein 6 | Ikke registrert | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ikke registrert | I 1 tilstand |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Ikke registrert | I 1 tilstand |
| PMM2phosphomannomutase 2 | Ikke registrert | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Ikke registrert | I 1 tilstand |
| RETret proto-oncogene | Ikke registrert | I 1 tilstand |
| RUNX2RUNX family transcription factor 2 | Ikke registrert | I 1 tilstand |
| SETD5SET domain containing 5 | Ikke registrert | I 1 tilstand |
| SIL1SIL1 nucleotide exchange factor | Ikke registrert | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Ikke registrert | I 1 tilstand |
| SONSON DNA and RNA binding protein | Ikke registrert | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registrert | I 1 tilstand |
| TNFRSF11BTNF receptor superfamily member 11b | Ikke registrert | I 1 tilstand |
| TOR1Atorsin family 1 member A | Ikke registrert | I 1 tilstand |
| TPI1triosephosphate isomerase 1 | Ikke registrert | I 1 tilstand |
| TRAPPC2trafficking protein particle complex subunit 2 | Ikke registrert | I 1 tilstand |
| USP8ubiquitin specific peptidase 8 | Ikke registrert | I 1 tilstand |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | 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.
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