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Kenmerk
Hunched back
Klinische naam: Kyphosis
Exaggerated anterior convexity of the thoracic vertebral column.
Samenvatting
- Ook bekend als
- Round back, Gibbus deformity, Hyperkyphosis
- Lichaamssysteem
- Abnormality of the musculoskeletal system
Hunched backHP:0002808
Voor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagAan de slagvanaf $ 449
Read the genes linked to Hunched back, and the rest of your genome, with one test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen315 genen gekoppeld aan Hunched back
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Hunched back voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ATRXATRX chromatin remodeler | Altijd | In 2 aandoeningen |
| COL12A1collagen type XII alpha 1 chain | Altijd | In 3 aandoeningen |
| DSTdystonin | Altijd | In 1 aandoening |
| DYMdymeclin | Altijd | In 2 aandoeningen |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Altijd | In 1 aandoening |
| FBN1fibrillin 1 | Altijd | In 1 aandoening |
| FEM1Bfem-1 homolog B | Altijd | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Altijd | In 1 aandoening |
| GLB1galactosidase beta 1 | Altijd | In 3 aandoeningen |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Altijd | In 2 aandoeningen |
| GPR101G protein-coupled receptor 101 | Altijd | In 2 aandoeningen |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Altijd | In 2 aandoeningen |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Altijd | In 1 aandoening |
| KDM2Blysine demethylase 2B | Altijd | In 1 aandoening |
| LAMA2laminin subunit alpha 2 | Altijd | In 1 aandoening |
| MBTPS1membrane bound transcription factor peptidase, site 1 | Altijd | In 1 aandoening |
| MFN2mitofusin 2 | Altijd | In 2 aandoeningen |
| MMP14matrix metallopeptidase 14 | Altijd | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Altijd | In 3 aandoeningen |
| PLAAphospholipase A2 activating protein | Altijd | In 2 aandoeningen |
| SMAD4SMAD family member 4 | Altijd | In 1 aandoening |
| SRSF1serine and arginine rich splicing factor 1 | Altijd | In 1 aandoening |
| TAF4TATA-box binding protein associated factor 4 | Altijd | In 1 aandoening |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Altijd | In 7 aandoeningen |
| VAMP1vesicle associated membrane protein 1 | Altijd | In 1 aandoening |
| VPS37AVPS37A subunit of ESCRT-I | Altijd | In 2 aandoeningen |
| ZMYM3zinc finger MYM-type containing 3 | Altijd | In 1 aandoening |
| ZNF407zinc finger protein 407 | Altijd | In 1 aandoening |
| ACTBactin beta | Heel vaak (80–99%) | In 2 aandoeningen |
| AKT1AKT serine/threonine kinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| CLCF1cardiotrophin like cytokine factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| COL6A1collagen type VI alpha 1 chain | Heel vaak (80–99%) | In 3 aandoeningen |
| COL6A2collagen type VI alpha 2 chain | Heel vaak (80–99%) | In 2 aandoeningen |
| COL6A3collagen type VI alpha 3 chain | Heel vaak (80–99%) | In 2 aandoeningen |
| CRLF1cytokine receptor like factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| CTDP1CTD phosphatase 1 | Heel vaak (80–99%) | In 1 aandoening |
| DCCDCC netrin 1 receptor | Heel vaak (80–99%) | In 1 aandoening |
| FGFR3fibroblast growth factor receptor 3 | Heel vaak (80–99%) | In 4 aandoeningen |
| FUCA1alpha-L-fucosidase 1 | Heel vaak (80–99%) | In 1 aandoening |
| ROBO3roundabout guidance receptor 3 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 275 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| RPS6KA3ribosomal protein S6 kinase A3 | Heel vaak (80–99%) | In 3 aandoeningen |
| ZBTB20zinc finger and BTB domain containing 20 | Heel vaak (80–99%) | In 2 aandoeningen |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Vaak (30–79%) | In 1 aandoening |
| AIPAHR interacting HSP90 co-chaperone | Vaak (30–79%) | In 2 aandoeningen |
| ALMS1ALMS1 centrosome and basal body associated protein | Vaak (30–79%) | In 2 aandoeningen |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Vaak (30–79%) | In 1 aandoening |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Vaak (30–79%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Vaak (30–79%) | In 1 aandoening |
| CBScystathionine beta-synthase | Vaak (30–79%) | In 1 aandoening |
| CCDC22CCC complex scaffolding subunit CCDC22 | Vaak (30–79%) | In 1 aandoening |
| CCDC32coiled-coil domain containing 32 | Vaak (30–79%) | In 1 aandoening |
| CHRNGcholinergic receptor nicotinic gamma subunit | Vaak (30–79%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Vaak (30–79%) | In 1 aandoening |
| COL2A1collagen type II alpha 1 chain | Vaak (30–79%) | In 4 aandoeningen |
| COPB1coat protein complex I subunit beta 1 | Vaak (30–79%) | In 1 aandoening |
| CPLX1complexin 1 | Vaak (30–79%) | In 2 aandoeningen |
| CRTAPcartilage associated protein | Vaak (30–79%) | In 1 aandoening |
| CTBP1C-terminal binding protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| DICER1dicer 1, ribonuclease III | Vaak (30–79%) | In 1 aandoening |
| DLL3delta like canonical Notch ligand 3 | Vaak (30–79%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Vaak (30–79%) | In 1 aandoening |
| DPYSL5dihydropyrimidinase like 5 | Vaak (30–79%) | In 1 aandoening |
| DVL3dishevelled segment polarity protein 3 | Vaak (30–79%) | In 1 aandoening |
| EBPEBP cholestenol delta-isomerase | Vaak (30–79%) | In 2 aandoeningen |
| EIF4Heukaryotic translation initiation factor 4H | Vaak (30–79%) | In 1 aandoening |
| ELNelastin | Vaak (30–79%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Vaak (30–79%) | In 3 aandoeningen |
| EXTL3exostosin like glycosyltransferase 3 | Vaak (30–79%) | In 1 aandoening |
| FGFRL1fibroblast growth factor receptor like 1 | Vaak (30–79%) | In 1 aandoening |
| FILIP1filamin A interacting protein 1 | Vaak (30–79%) | In 1 aandoening |
| FKBP10FKBP prolyl isomerase 10 | Vaak (30–79%) | In 2 aandoeningen |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Vaak (30–79%) | In 1 aandoening |
| FOXC2forkhead box C2 | Vaak (30–79%) | In 1 aandoening |
| FOXG1forkhead box G1 | Vaak (30–79%) | In 2 aandoeningen |
| GTF2Igeneral transcription factor IIi | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| GUSBglucuronidase beta | Vaak (30–79%) | In 1 aandoening |
| H4C9H4 clustered histone 9 | Vaak (30–79%) | In 1 aandoening |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Vaak (30–79%) | In 2 aandoeningen |
| HDAC4histone deacetylase 4 | Vaak (30–79%) | In 1 aandoening |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Vaak (30–79%) | In 1 aandoening |
| HES7hes family bHLH transcription factor 7 | Vaak (30–79%) | In 1 aandoening |
| HGDhomogentisate 1,2-dioxygenase | Vaak (30–79%) | In 1 aandoening |
| HMBShydroxymethylbilane synthase | Vaak (30–79%) | In 1 aandoening |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Vaak (30–79%) | In 1 aandoening |
| HSPG2heparan sulfate proteoglycan 2 | Vaak (30–79%) | In 2 aandoeningen |
| ITGAVintegrin subunit alpha V | Vaak (30–79%) | In 1 aandoening |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Vaak (30–79%) | In 1 aandoening |
| KIF22kinesin family member 22 | Vaak (30–79%) | In 2 aandoeningen |
| KLC2kinesin light chain 2 | Vaak (30–79%) | In 1 aandoening |
| KLHL20kelch like family member 20 | Vaak (30–79%) | In 1 aandoening |
| KMT2Clysine methyltransferase 2C | Vaak (30–79%) | In 1 aandoening |
| LBRlamin B receptor | Vaak (30–79%) | In 2 aandoeningen |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Vaak (30–79%) | In 2 aandoeningen |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Vaak (30–79%) | In 2 aandoeningen |
| LIMK1LIM domain kinase 1 | Vaak (30–79%) | In 1 aandoening |
| MAGEL2MAGE family member L2 | Vaak (30–79%) | In 3 aandoeningen |
| MESP2mesoderm posterior bHLH transcription factor 2 | Vaak (30–79%) | In 1 aandoening |
| METTL27methyltransferase like 27 | Vaak (30–79%) | In 1 aandoening |
| MGME1mitochondrial genome maintenance exonuclease 1 | Vaak (30–79%) | In 2 aandoeningen |
| MKRN3makorin ring finger protein 3 | Vaak (30–79%) | In 1 aandoening |
| MYO1Hmyosin IH | Vaak (30–79%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Vaak (30–79%) | In 1 aandoening |
| NELFAnegative elongation factor complex member A | Vaak (30–79%) | In 1 aandoening |
| NFIXnuclear factor I X | Vaak (30–79%) | In 1 aandoening |
| NONOnon-POU domain containing octamer binding | Vaak (30–79%) | In 1 aandoening |
| NPAP1nuclear pore associated protein 1 | Vaak (30–79%) | In 1 aandoening |
| NPR2natriuretic peptide receptor 2 | Vaak (30–79%) | In 1 aandoening |
| NSD2nuclear receptor binding SET domain protein 2 | Vaak (30–79%) | In 2 aandoeningen |
| NXNnucleoredoxin | Vaak (30–79%) | In 1 aandoening |
| P4HBprolyl 4-hydroxylase subunit beta | Vaak (30–79%) | In 1 aandoening |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Vaak (30–79%) | In 1 aandoening |
| PLAAT3phospholipase A and acyltransferase 3 | Vaak (30–79%) | In 1 aandoening |
| PLOD2procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 | Vaak (30–79%) | In 1 aandoening |
| POLD1DNA polymerase delta 1, catalytic subunit | Vaak (30–79%) | In 1 aandoening |
| PORCNporcupine O-acyltransferase | Vaak (30–79%) | In 1 aandoening |
| PPIBpeptidylprolyl isomerase B | Vaak (30–79%) | In 1 aandoening |
| PTCH1patched 1 | Vaak (30–79%) | In 1 aandoening |
| PUS1pseudouridine synthase 1 | Vaak (30–79%) | In 1 aandoening |
| PWAR1Prader Willi/Angelman region RNA 1 | Vaak (30–79%) | In 1 aandoening |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Vaak (30–79%) | In 1 aandoening |
| RAB18RAB18, member RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Vaak (30–79%) | In 1 aandoening |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Vaak (30–79%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Vaak (30–79%) | In 1 aandoening |
| RIPPLY2ripply transcriptional repressor 2 | Vaak (30–79%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Vaak (30–79%) | In 1 aandoening |
| SEC24DSEC24 homolog D, COPII component | Vaak (30–79%) | In 2 aandoeningen |
| SH3PXD2BSH3 and PX domains 2B | Vaak (30–79%) | In 2 aandoeningen |
| SHROOM4shroom family member 4 | Vaak (30–79%) | In 1 aandoening |
| SLC26A2solute carrier family 26 member 2 | Vaak (30–79%) | In 1 aandoening |
| SMSspermine synthase | Vaak (30–79%) | In 1 aandoening |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Vaak (30–79%) | In 1 aandoening |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Vaak (30–79%) | In 1 aandoening |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Vaak (30–79%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| STX1Asyntaxin 1A | Vaak (30–79%) | In 1 aandoening |
| SVILsupervillin | Vaak (30–79%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Vaak (30–79%) | In 1 aandoening |
| TBC1D20TBC1 domain family member 20 | Vaak (30–79%) | In 1 aandoening |
| TBL2transducin beta like 2 | Vaak (30–79%) | In 1 aandoening |
| TBX5T-box transcription factor 5 | Vaak (30–79%) | In 1 aandoening |
| TBX6T-box transcription factor 6 | Vaak (30–79%) | In 1 aandoening |
| TLK2tousled like kinase 2 | Vaak (30–79%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Vaak (30–79%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Vaak (30–79%) | In 2 aandoeningen |
| VPS35LVPS35 endosomal protein sorting factor like | Vaak (30–79%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Vaak (30–79%) | In 1 aandoening |
| WASHC5WASH complex subunit 5 | Vaak (30–79%) | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Vaak (30–79%) | In 1 aandoening |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| AEBP1AE binding protein 1 | Soms (5–29%) | In 1 aandoening |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| ANKRD11ankyrin repeat domain 11 | Soms (5–29%) | In 1 aandoening |
| APC2APC regulator of Wnt signaling pathway 2 | Soms (5–29%) | In 1 aandoening |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Soms (5–29%) | In 1 aandoening |
| ASXL2ASXL transcriptional regulator 2 | Soms (5–29%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Soms (5–29%) | In 2 aandoeningen |
| AUTS2activator of transcription and developmental regulator AUTS2 | Soms (5–29%) | In 2 aandoeningen |
| BCL11ABCL11 transcription factor A | Soms (5–29%) | In 1 aandoening |
| BCORBCL6 corepressor | Soms (5–29%) | In 1 aandoening |
| BICD2BICD cargo adaptor 2 | Soms (5–29%) | In 2 aandoeningen |
| CASZ1castor zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Soms (5–29%) | In 1 aandoening |
| CCN2cellular communication network factor 2 | Soms (5–29%) | In 1 aandoening |
| CCND1cyclin D1 | Soms (5–29%) | In 1 aandoening |
| CDKL5cyclin dependent kinase like 5 | Soms (5–29%) | In 2 aandoeningen |
| CHD8chromodomain helicase DNA binding protein 8 | Soms (5–29%) | In 1 aandoening |
| CSF1Rcolony stimulating factor 1 receptor | Soms (5–29%) | In 1 aandoening |
| CUL4Bcullin 4B | Soms (5–29%) | In 2 aandoeningen |
| CUL7cullin 7 | Soms (5–29%) | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Soms (5–29%) | In 1 aandoening |
| DKK1dickkopf Wnt signaling pathway inhibitor 1 | Soms (5–29%) | In 1 aandoening |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Soms (5–29%) | In 2 aandoeningen |
| EMDemerin | Soms (5–29%) | In 1 aandoening |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Soms (5–29%) | In 1 aandoening |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Soms (5–29%) | In 3 aandoeningen |
| FA2Hfatty acid 2-hydroxylase | Soms (5–29%) | In 1 aandoening |
| FHL1four and a half LIM domains 1 | Soms (5–29%) | In 3 aandoeningen |
| FLVCR1FLVCR choline and heme transporter 1 | Soms (5–29%) | In 1 aandoening |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Soms (5–29%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Soms (5–29%) | In 1 aandoening |
| GBA2glucosylceramidase beta 2 | Soms (5–29%) | In 1 aandoening |
| GJB1gap junction protein beta 1 | Soms (5–29%) | In 1 aandoening |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Soms (5–29%) | In 1 aandoening |
| INPP5Kinositol polyphosphate-5-phosphatase K | Soms (5–29%) | In 1 aandoening |
| IPO8importin 8 | Soms (5–29%) | In 1 aandoening |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Soms (5–29%) | In 1 aandoening |
| LGI3leucine rich repeat LGI family member 3 | Soms (5–29%) | In 1 aandoening |
| LMNAlamin A/C | Soms (5–29%) | In 2 aandoeningen |
| LRP5LDL receptor related protein 5 | Soms (5–29%) | In 1 aandoening |
| LUZP1leucine zipper protein 1 | Soms (5–29%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Soms (5–29%) | In 1 aandoening |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Soms (5–29%) | In 1 aandoening |
| MCM3APminichromosome maintenance complex component 3 associated protein | Soms (5–29%) | In 1 aandoening |
| MECP2methyl-CpG binding protein 2 | Soms (5–29%) | In 2 aandoeningen |
| MED25mediator complex subunit 25 | Soms (5–29%) | In 2 aandoeningen |
| MEIS2Meis homeobox 2 | Soms (5–29%) | In 1 aandoening |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Soms (5–29%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NEU1neuraminidase 1 | Soms (5–29%) | In 1 aandoening |
| NF1neurofibromin 1 | Soms (5–29%) | In 2 aandoeningen |
| NOTCH2notch receptor 2 | Soms (5–29%) | In 1 aandoening |
| NOTCH3notch receptor 3 | Soms (5–29%) | In 2 aandoeningen |
| NSD1nuclear receptor binding SET domain protein 1 | Soms (5–29%) | In 1 aandoening |
| NTNG1netrin G1 | Soms (5–29%) | In 1 aandoening |
| NUP88nucleoporin 88 | Soms (5–29%) | In 1 aandoening |
| OBSL1obscurin like cytoskeletal adaptor 1 | Soms (5–29%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Soms (5–29%) | In 2 aandoeningen |
| PDPNpodoplanin | Soms (5–29%) | In 1 aandoening |
| PI4KAphosphatidylinositol 4-kinase alpha | Soms (5–29%) | In 1 aandoening |
| PRDM13PR/SET domain 13 | Soms (5–29%) | In 1 aandoening |
| PRDM16PR/SET domain 16 | Soms (5–29%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Soms (5–29%) | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Soms (5–29%) | In 1 aandoening |
| PSAPprosaposin | Soms (5–29%) | In 1 aandoening |
| PTDSS1phosphatidylserine synthase 1 | Soms (5–29%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 2 aandoeningen |
| RELREL proto-oncogene, NF-kB subunit | Soms (5–29%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Soms (5–29%) | In 1 aandoening |
| RNU12RNA, U12 small nuclear | Soms (5–29%) | In 2 aandoeningen |
| SCAF4SR-related CTD associated factor 4 | Soms (5–29%) | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Soms (5–29%) | In 1 aandoening |
| SH2B1SH2B adaptor protein 1 | Soms (5–29%) | In 1 aandoening |
| SIN3ASIN3 transcription regulator family member A | Soms (5–29%) | In 1 aandoening |
| SKISKI proto-oncogene | Soms (5–29%) | In 1 aandoening |
| SLC5A7solute carrier family 5 member 7 | Soms (5–29%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Soms (5–29%) | In 1 aandoening |
| SMC5structural maintenance of chromosomes 5 | Soms (5–29%) | In 1 aandoening |
| SOX9SRY-box transcription factor 9 | Soms (5–29%) | In 1 aandoening |
| SPENspen family transcriptional repressor | Soms (5–29%) | In 1 aandoening |
| SRD5A3steroid 5 alpha-reductase 3 | Soms (5–29%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Soms (5–29%) | In 4 aandoeningen |
| SYNE2spectrin repeat containing nuclear envelope protein 2 | Soms (5–29%) | In 1 aandoening |
| TBX2T-box transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| TCF12transcription factor 12 | Soms (5–29%) | In 1 aandoening |
| TGFB1transforming growth factor beta 1 | Soms (5–29%) | In 1 aandoening |
| TMEM43transmembrane protein 43 | Soms (5–29%) | In 1 aandoening |
| TTC5tetratricopeptide repeat domain 5 | Soms (5–29%) | In 1 aandoening |
| UBE4Bubiquitination factor E4B | Soms (5–29%) | In 1 aandoening |
| UBTFupstream binding transcription factor | Soms (5–29%) | In 1 aandoening |
| UFSP2UFM1 specific peptidase 2 | Soms (5–29%) | In 1 aandoening |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Soms (5–29%) | In 1 aandoening |
| USP7ubiquitin specific peptidase 7 | Soms (5–29%) | In 1 aandoening |
| VPS13Bvacuolar protein sorting 13 homolog B | Soms (5–29%) | In 1 aandoening |
| WNT1Wnt family member 1 | Soms (5–29%) | In 1 aandoening |
| WNT3AWnt family member 3A | Soms (5–29%) | In 1 aandoening |
| XPO1exportin 1 | Soms (5–29%) | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | Soms (5–29%) | In 3 aandoeningen |
| ACBD6acyl-CoA binding domain containing 6 | Zelden (1–4%) | In 1 aandoening |
| ACP5acid phosphatase 5, tartrate resistant | Zelden (1–4%) | In 1 aandoening |
| ACTA1actin alpha 1, skeletal muscle | Zelden (1–4%) | In 1 aandoening |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Zelden (1–4%) | In 1 aandoening |
| CFL2cofilin 2 | Zelden (1–4%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Zelden (1–4%) | In 1 aandoening |
| CTSKcathepsin K | Zelden (1–4%) | In 1 aandoening |
| EHMT1euchromatic histone lysine methyltransferase 1 | Zelden (1–4%) | In 1 aandoening |
| KLHL41kelch like family member 41 | Zelden (1–4%) | In 1 aandoening |
| LMOD3leiomodin 3 | Zelden (1–4%) | In 1 aandoening |
| MARK2microtubule affinity regulating kinase 2 | Zelden (1–4%) | In 1 aandoening |
| NEBnebulin | Zelden (1–4%) | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| SPTBN1spectrin beta, non-erythrocytic 1 | Zelden (1–4%) | In 1 aandoening |
| TPM2tropomyosin 2 | Zelden (1–4%) | In 1 aandoening |
| ABCC6ATP binding cassette subfamily C member 6 | Niet vastgelegd | In 1 aandoening |
| AGAaspartylglucosaminidase | Niet vastgelegd | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Niet vastgelegd | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Niet vastgelegd | In 1 aandoening |
| BGNbiglycan | Niet vastgelegd | In 1 aandoening |
| BIN1bridging integrator 1 | Niet vastgelegd | In 1 aandoening |
| CANT1calcium activated nucleotidase 1 | Niet vastgelegd | In 1 aandoening |
| CHST3carbohydrate sulfotransferase 3 | Niet vastgelegd | In 1 aandoening |
| COL1A1collagen type I alpha 1 chain | Niet vastgelegd | In 3 aandoeningen |
| COL1A2collagen type I alpha 2 chain | Niet vastgelegd | In 3 aandoeningen |
| COMPcartilage oligomeric matrix protein | Niet vastgelegd | In 1 aandoening |
| ERLIN2ER lipid raft associated 2 | Niet vastgelegd | In 1 aandoening |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Niet vastgelegd | In 1 aandoening |
| FKRPfukutin related protein | Niet vastgelegd | In 2 aandoeningen |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Niet vastgelegd | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Niet vastgelegd | In 1 aandoening |
| GNASGNAS complex locus | Niet vastgelegd | In 1 aandoening |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Niet vastgelegd | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Niet vastgelegd | In 1 aandoening |
| HTThuntingtin | Niet vastgelegd | In 1 aandoening |
| IDSiduronate 2-sulfatase | Niet vastgelegd | In 1 aandoening |
| IDUAalpha-L-iduronidase | Niet vastgelegd | In 2 aandoeningen |
| KMT2Elysine methyltransferase 2E (inactive) | Niet vastgelegd | In 1 aandoening |
| L1CAML1 cell adhesion molecule | Niet vastgelegd | In 1 aandoening |
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Niet vastgelegd | In 1 aandoening |
| NDUFAF4NADH:ubiquinone oxidoreductase complex assembly factor 4 | Niet vastgelegd | In 1 aandoening |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Niet vastgelegd | In 1 aandoening |
| P3H1prolyl 3-hydroxylase 1 | Niet vastgelegd | In 1 aandoening |
| PDE11Aphosphodiesterase 11A | Niet vastgelegd | In 1 aandoening |
| PHF6PHD finger protein 6 | Niet vastgelegd | In 1 aandoening |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Niet vastgelegd | In 1 aandoening |
| PIK3R2phosphoinositide-3-kinase regulatory subunit 2 | Niet vastgelegd | In 1 aandoening |
| PMM2phosphomannomutase 2 | Niet vastgelegd | In 1 aandoening |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Niet vastgelegd | In 1 aandoening |
| RETret proto-oncogene | Niet vastgelegd | In 1 aandoening |
| RUNX2RUNX family transcription factor 2 | Niet vastgelegd | In 1 aandoening |
| SETD5SET domain containing 5 | Niet vastgelegd | In 1 aandoening |
| SIL1SIL1 nucleotide exchange factor | Niet vastgelegd | In 1 aandoening |
| SLC52A3solute carrier family 52 member 3 | Niet vastgelegd | In 1 aandoening |
| SONSON DNA and RNA binding protein | Niet vastgelegd | In 1 aandoening |
| TFAP2Atranscription factor AP-2 alpha | Niet vastgelegd | In 1 aandoening |
| TNFRSF11BTNF receptor superfamily member 11b | Niet vastgelegd | In 1 aandoening |
| TOR1Atorsin family 1 member A | Niet vastgelegd | In 1 aandoening |
| TPI1triosephosphate isomerase 1 | Niet vastgelegd | In 1 aandoening |
| TRAPPC2trafficking protein particle complex subunit 2 | Niet vastgelegd | In 1 aandoening |
| USP8ubiquitin specific peptidase 8 | Niet vastgelegd | In 1 aandoening |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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