Træk
Short neck
Diminished length of the neck.
Resumé
- Også kaldet
- Decreased length of neck
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Short neck 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 |
|---|---|---|
| ACANaggrecan | Altid | I 2 tilstande |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Altid | I 3 tilstande |
| AMMECR1AMMECR nuclear protein 1 | Altid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altid | I 5 tilstande |
| BRF1BRF1 general transcription factor IIIB subunit | Altid | I 2 tilstande |
| COG1component of oligomeric golgi complex 1 | Altid | I 2 tilstande |
| COG7component of oligomeric golgi complex 7 | Altid | I 2 tilstande |
| COL2A1collagen type II alpha 1 chain | Altid | I 7 tilstande |
| CUL7cullin 7 | Altid | I 2 tilstande |
| DDRGK1DDRGK domain containing 1 | Altid | I 2 tilstande |
| DMRT2doublesex and mab-3 related transcription factor 2 | Altid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Altid | I 2 tilstande |
| DYMdymeclin | Altid | I 3 tilstande |
| ECEL1endothelin converting enzyme like 1 | Altid | I 1 tilstand |
| FANCIFA complementation group I | Altid | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Altid | I 2 tilstande |
| FGFR3fibroblast growth factor receptor 3 | Altid | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Altid | I 3 tilstande |
| FLNAfilamin A | Altid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Altid | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Altid | I 1 tilstand |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Altid | I 1 tilstand |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Altid | I 1 tilstand |
| HYAL2hyaluronidase 2 | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 2 tilstande |
| IGBP1immunoglobulin binding protein 1 | Altid | I 2 tilstande |
| IL6STinterleukin 6 cytokine family signal transducer | Altid | I 1 tilstand |
| INTUinturned planar cell polarity protein | Altid | I 2 tilstande |
| KIF7kinesin family member 7 | Altid | I 1 tilstand |
| LAMA5laminin subunit alpha 5 | Altid | I 1 tilstand |
| MRPL12mitochondrial ribosomal protein L12 | Altid | I 1 tilstand |
| MRPS28mitochondrial ribosomal protein S28 | Altid | I 1 tilstand |
| MYH3myosin heavy chain 3 | Altid | I 5 tilstande |
| NEK9NIMA related kinase 9 | Altid | I 1 tilstand |
| NKX3-2NK3 homeobox 2 | Altid | I 1 tilstand |
| NLRP1NLR family pyrin domain containing 1 | Altid | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Altid | I 1 tilstand |
| NUP188nucleoporin 188 | Altid | I 1 tilstand |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Altid | I 1 tilstand |
Vis 374 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| PALB2partner and localizer of BRCA2 | Altid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Altid | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Altid | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Altid | I 2 tilstande |
| RAB33BRAB33B, member RAS oncogene family | Altid | I 1 tilstand |
| RAB5IFRAB5 interacting factor | Altid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altid | I 2 tilstande |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Altid | I 2 tilstande |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Altid | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Altid | I 1 tilstand |
| TBX15T-box transcription factor 15 | Altid | I 2 tilstande |
| TBX5T-box transcription factor 5 | Altid | I 1 tilstand |
| TECPR2tectonin beta-propeller repeat containing 2 | Altid | I 2 tilstande |
| TIMM50translocase of inner mitochondrial membrane 50 | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Altid | I 2 tilstande |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Altid | I 4 tilstande |
| TXNDC15thioredoxin domain containing 15 | Altid | I 1 tilstand |
| WDR35WD repeat domain 35 | Altid | I 1 tilstand |
| ANTXR2ANTXR cell adhesion molecule 2 | Meget ofte (80–99 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| BMPERBMP binding endothelial regulator | Meget ofte (80–99 %) | I 2 tilstande |
| BRD4bromodomain containing 4 | Meget ofte (80–99 %) | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Meget ofte (80–99 %) | I 2 tilstande |
| CD96CD96 molecule | Meget ofte (80–99 %) | I 1 tilstand |
| CDH11cadherin 11 | Meget ofte (80–99 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Meget ofte (80–99 %) | I 2 tilstande |
| COL11A2collagen type XI alpha 2 chain | Meget ofte (80–99 %) | I 2 tilstande |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CUL4Bcullin 4B | Meget ofte (80–99 %) | I 1 tilstand |
| DLL3delta like canonical Notch ligand 3 | Meget ofte (80–99 %) | I 2 tilstande |
| FAM20CFAM20C golgi associated secretory pathway kinase | Meget ofte (80–99 %) | I 2 tilstande |
| GDF3growth differentiation factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Meget ofte (80–99 %) | I 2 tilstande |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 2 tilstande |
| HES7hes family bHLH transcription factor 7 | Meget ofte (80–99 %) | I 2 tilstande |
| HNF1BHNF1 homeobox B | Meget ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 2 tilstande |
| IDUAalpha-L-iduronidase | Meget ofte (80–99 %) | I 3 tilstande |
| INPPL1inositol polyphosphate phosphatase like 1 | Meget ofte (80–99 %) | I 2 tilstande |
| KRASKRas proto-oncogene, GTPase | Meget ofte (80–99 %) | I 4 tilstande |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Meget ofte (80–99 %) | I 1 tilstand |
| LHX3LIM homeobox 3 | Meget ofte (80–99 %) | I 3 tilstande |
| MAU2MAU2 sister chromatid cohesion factor | Meget ofte (80–99 %) | I 1 tilstand |
| MEOX1mesenchyme homeobox 1 | Meget ofte (80–99 %) | I 2 tilstande |
| MESP2mesoderm posterior bHLH transcription factor 2 | Meget ofte (80–99 %) | I 3 tilstande |
| NALCNsodium leak channel, non-selective | Meget ofte (80–99 %) | I 3 tilstande |
| NBASNBAS subunit of NRZ tethering complex | Meget ofte (80–99 %) | I 1 tilstand |
| NBNnibrin | Meget ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Meget ofte (80–99 %) | I 2 tilstande |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Meget ofte (80–99 %) | I 2 tilstande |
| PSAT1phosphoserine aminotransferase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PTCH1patched 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Meget ofte (80–99 %) | I 1 tilstand |
| RIPPLY2ripply transcriptional repressor 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Meget ofte (80–99 %) | I 2 tilstande |
| RNU4ATACRNA, U4atac small nuclear | Meget ofte (80–99 %) | I 2 tilstande |
| RSPRY1ring finger and SPRY domain containing 1 | Meget ofte (80–99 %) | I 2 tilstande |
| SCYL2SCY1 like pseudokinase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SHOXSHOX homeobox | Meget ofte (80–99 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Meget ofte (80–99 %) | I 3 tilstande |
| SLC35D1solute carrier family 35 member D1 | Meget ofte (80–99 %) | I 2 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Meget ofte (80–99 %) | I 2 tilstande |
| SMC3structural maintenance of chromosomes 3 | Meget ofte (80–99 %) | I 2 tilstande |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Meget ofte (80–99 %) | I 1 tilstand |
| TBC1D7TBC1 domain family member 7 | Meget ofte (80–99 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Meget ofte (80–99 %) | I 2 tilstande |
| TBR1T-box brain transcription factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| TBX6T-box transcription factor 6 | Meget ofte (80–99 %) | I 3 tilstande |
| TCF4transcription factor 4 | Meget ofte (80–99 %) | I 2 tilstande |
| TMCO1transmembrane and coiled-coil domains 1 | Meget ofte (80–99 %) | I 2 tilstande |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Meget ofte (80–99 %) | I 2 tilstande |
| WNT4Wnt family member 4 | Meget ofte (80–99 %) | I 2 tilstande |
| XYLT1xylosyltransferase 1 | Meget ofte (80–99 %) | I 2 tilstande |
| XYLT2xylosyltransferase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 2 tilstande |
| ACTBactin beta | Ofte (30–79 %) | I 2 tilstande |
| ACTG1actin gamma 1 | Ofte (30–79 %) | I 2 tilstande |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Ofte (30–79 %) | I 2 tilstande |
| ARVCFARVCF delta catenin family member | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofte (30–79 %) | I 2 tilstande |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 2 tilstande |
| BPTFbromodomain PHD finger transcription factor | Ofte (30–79 %) | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Ofte (30–79 %) | I 1 tilstand |
| CBLCbl proto-oncogene | Ofte (30–79 %) | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ofte (30–79 %) | I 1 tilstand |
| CLDN11claudin 11 | Ofte (30–79 %) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Ofte (30–79 %) | I 1 tilstand |
| COL12A1collagen type XII alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL6A1collagen type VI alpha 1 chain | Ofte (30–79 %) | I 1 tilstand |
| COL6A2collagen type VI alpha 2 chain | Ofte (30–79 %) | I 2 tilstande |
| COL6A3collagen type VI alpha 3 chain | Ofte (30–79 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CTNND2catenin delta 2 | Ofte (30–79 %) | I 1 tilstand |
| DCCDCC netrin 1 receptor | Ofte (30–79 %) | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Ofte (30–79 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ofte (30–79 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| EMDemerin | Ofte (30–79 %) | I 1 tilstand |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Ofte (30–79 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Ofte (30–79 %) | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ofte (30–79 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Ofte (30–79 %) | I 1 tilstand |
| FANCBFA complementation group B | Ofte (30–79 %) | I 1 tilstand |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Ofte (30–79 %) | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ofte (30–79 %) | I 2 tilstande |
| GNASGNAS complex locus | Ofte (30–79 %) | I 6 tilstande |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ofte (30–79 %) | I 1 tilstand |
| GNSglucosamine (N-acetyl)-6-sulfatase | Ofte (30–79 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Ofte (30–79 %) | I 1 tilstand |
| GPC3glypican 3 | Ofte (30–79 %) | I 1 tilstand |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| GPKOWG-patch domain and KOW motifs | Ofte (30–79 %) | I 1 tilstand |
| GUSBglucuronidase beta | Ofte (30–79 %) | I 2 tilstande |
| HBA1hemoglobin subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Ofte (30–79 %) | I 1 tilstand |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Ofte (30–79 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Ofte (30–79 %) | I 3 tilstande |
| INTS1integrator complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Ofte (30–79 %) | I 1 tilstand |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Ofte (30–79 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Ofte (30–79 %) | I 2 tilstande |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 4 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 2 tilstande |
| MAPK1mitogen-activated protein kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ofte (30–79 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 2 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Ofte (30–79 %) | I 1 tilstand |
| NUP88nucleoporin 88 | Ofte (30–79 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstande |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Ofte (30–79 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ofte (30–79 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ofte (30–79 %) | I 2 tilstande |
| PKDCCprotein kinase domain containing, cytoplasmic | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstande |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ofte (30–79 %) | I 2 tilstande |
| PUF60poly(U) binding splicing factor 60 | Ofte (30–79 %) | I 3 tilstande |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 2 tilstande |
| RB1RB transcriptional corepressor 1 | Ofte (30–79 %) | I 1 tilstand |
| RDH11retinol dehydrogenase 11 | Ofte (30–79 %) | I 1 tilstand |
| RFT1RFT1 glycolipid translocator homolog | Ofte (30–79 %) | I 1 tilstand |
| RIPK4receptor interacting serine/threonine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| RIT1Ras like without CAAX 1 | Ofte (30–79 %) | I 1 tilstand |
| ROBO3roundabout guidance receptor 3 | Ofte (30–79 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ofte (30–79 %) | I 2 tilstande |
| RREB1ras responsive element binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 1 tilstand |
| RYR1ryanodine receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Ofte (30–79 %) | I 1 tilstand |
| SEMA5Asemaphorin 5A | Ofte (30–79 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Ofte (30–79 %) | I 1 tilstand |
| SMSspermine synthase | Ofte (30–79 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ofte (30–79 %) | I 2 tilstande |
| STX16syntaxin 16 | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TNNI2troponin I2, fast skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TNNT3troponin T3, fast skeletal type | Ofte (30–79 %) | I 1 tilstand |
| TPM2tropomyosin 2 | Ofte (30–79 %) | I 2 tilstande |
| TRAF7TNF receptor associated factor 7 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC2trafficking protein particle complex subunit 2 | Ofte (30–79 %) | I 2 tilstande |
| TRAPPC9trafficking protein particle complex subunit 9 | Ofte (30–79 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Ofte (30–79 %) | I 2 tilstande |
| TUBBtubulin beta class I | Ofte (30–79 %) | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Ofte (30–79 %) | I 1 tilstand |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Ofte (30–79 %) | I 1 tilstand |
| WNT7AWnt family member 7A | Ofte (30–79 %) | I 2 tilstande |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Ofte (30–79 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Nogle gange (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Nogle gange (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Nogle gange (5–29 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CACHD1cache domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Nogle gange (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Nogle gange (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Nogle gange (5–29 %) | I 1 tilstand |
| CFL2cofilin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| CHN1chimerin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Nogle gange (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Nogle gange (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Nogle gange (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Nogle gange (5–29 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Nogle gange (5–29 %) | I 3 tilstande |
| DVL3dishevelled segment polarity protein 3 | Nogle gange (5–29 %) | I 2 tilstande |
| ERMARDER membrane associated RNA degradation | Nogle gange (5–29 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| FANCLFA complementation group L | Nogle gange (5–29 %) | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FLNBfilamin B | Nogle gange (5–29 %) | I 4 tilstande |
| FREM2FRAS1 related extracellular matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Nogle gange (5–29 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Nogle gange (5–29 %) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Nogle gange (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Nogle gange (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Nogle gange (5–29 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Nogle gange (5–29 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Nogle gange (5–29 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Nogle gange (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Nogle gange (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAB21L1mab-21 like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Nogle gange (5–29 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MAN2B1mannosidase alpha class 2B member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Nogle gange (5–29 %) | I 2 tilstande |
| MEGF8multiple EGF like domains 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Nogle gange (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Nogle gange (5–29 %) | I 2 tilstande |
| MSL3MSL complex subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MYL11myosin light chain 11 | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NXNnucleoredoxin | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Nogle gange (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Nogle gange (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Nogle gange (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Nogle gange (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Nogle gange (5–29 %) | I 1 tilstand |
| PLAAT3phospholipase A and acyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| PLXNA1plexin A1 | Nogle gange (5–29 %) | I 1 tilstand |
| POP1POP1 ribonuclease P/MRP subunit | Nogle gange (5–29 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL11ribosomal protein L11 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL15ribosomal protein L15 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL18ribosomal protein L18 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL26ribosomal protein L26 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL27ribosomal protein L27 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL31ribosomal protein L31 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL35ribosomal protein L35 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Nogle gange (5–29 %) | I 1 tilstand |
| RPL5ribosomal protein L5 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL8ribosomal protein L8 | Nogle gange (5–29 %) | I 1 tilstand |
| RPL9ribosomal protein L9 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS10ribosomal protein S10 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Nogle gange (5–29 %) | I 1 tilstand |
| RPS17ribosomal protein S17 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS19ribosomal protein S19 | Nogle gange (5–29 %) | I 2 tilstande |
| RPS20ribosomal protein S20 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS24ribosomal protein S24 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS27ribosomal protein S27 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS28ribosomal protein S28 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS29ribosomal protein S29 | Nogle gange (5–29 %) | I 1 tilstand |
| RPS7ribosomal protein S7 | Nogle gange (5–29 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Nogle gange (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Nogle gange (5–29 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Nogle gange (5–29 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Nogle gange (5–29 %) | I 2 tilstande |
| TBX2T-box transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Nogle gange (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Nogle gange (5–29 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Nogle gange (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Nogle gange (5–29 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Nogle gange (5–29 %) | I 2 tilstande |
| WWOXWW domain containing oxidoreductase | Nogle gange (5–29 %) | I 1 tilstand |
| FN1fibronectin 1 | Sjældent (1–4%) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjældent (1–4%) | I 1 tilstand |
| SMPD4sphingomyelin phosphodiesterase 4 | Sjældent (1–4%) | I 1 tilstand |
| AEBP1AE binding protein 1 | Ikke registreret | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ikke registreret | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Ikke registreret | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registreret | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ikke registreret | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registreret | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registreret | I 1 tilstand |
| CDK5cyclin dependent kinase 5 | Ikke registreret | I 1 tilstand |
| CEP55centrosomal protein 55 | Ikke registreret | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registreret | I 2 tilstande |
| CRLF1cytokine receptor like factor 1 | Ikke registreret | I 1 tilstand |
| DOK7docking protein 7 | Ikke registreret | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ikke registreret | I 1 tilstand |
| EFNB1ephrin B1 | Ikke registreret | I 1 tilstand |
| EXOC6Bexocyst complex component 6B | Ikke registreret | I 1 tilstand |
| EXOSC9exosome component 9 | Ikke registreret | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registreret | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registreret | I 1 tilstand |
| GPC6glypican 6 | Ikke registreret | I 1 tilstand |
| GPX4glutathione peroxidase 4 | Ikke registreret | I 1 tilstand |
| HSPA9heat shock protein family A (Hsp70) member 9 | Ikke registreret | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registreret | I 1 tilstand |
| KIFBPkinesin family binding protein | Ikke registreret | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ikke registreret | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Ikke registreret | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registreret | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registreret | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ikke registreret | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registreret | I 1 tilstand |
| NF1neurofibromin 1 | Ikke registreret | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registreret | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registreret | I 2 tilstande |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ikke registreret | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Ikke registreret | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registreret | I 1 tilstand |
| SMAD4SMAD family member 4 | Ikke registreret | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Ikke registreret | I 1 tilstand |
| TALDO1transaldolase 1 | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registreret | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registreret | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 2 tilstande |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger