Egenskap
Short neck
Diminished length of the neck.
Sammendrag
- Også kalt
- Decreased length of neck
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Endringer i disse genene forårsaker sjeldne tilstander der Short neck 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 |
|---|---|---|
| ACANaggrecan | Alltid | I 2 tilstander |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Alltid | I 3 tilstander |
| AMMECR1AMMECR nuclear protein 1 | Alltid | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 5 tilstander |
| BRF1BRF1 general transcription factor IIIB subunit | Alltid | I 2 tilstander |
| COG1component of oligomeric golgi complex 1 | Alltid | I 2 tilstander |
| COG7component of oligomeric golgi complex 7 | Alltid | I 2 tilstander |
| COL2A1collagen type II alpha 1 chain | Alltid | I 7 tilstander |
| CUL7cullin 7 | Alltid | I 2 tilstander |
| DDRGK1DDRGK domain containing 1 | Alltid | I 2 tilstander |
| DMRT2doublesex and mab-3 related transcription factor 2 | Alltid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Alltid | I 2 tilstander |
| DYMdymeclin | Alltid | I 3 tilstander |
| ECEL1endothelin converting enzyme like 1 | Alltid | I 1 tilstand |
| FANCIFA complementation group I | Alltid | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Alltid | I 2 tilstander |
| FGFR3fibroblast growth factor receptor 3 | Alltid | I 1 tilstand |
| FHL1four and a half LIM domains 1 | Alltid | I 3 tilstander |
| FLNAfilamin A | Alltid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Alltid | I 1 tilstand |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Alltid | I 1 tilstand |
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Alltid | I 1 tilstand |
| GNPTGN-acetylglucosamine-1-phosphate transferase subunit gamma | Alltid | I 1 tilstand |
| HYAL2hyaluronidase 2 | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 2 tilstander |
| IGBP1immunoglobulin binding protein 1 | Alltid | I 2 tilstander |
| IL6STinterleukin 6 cytokine family signal transducer | Alltid | I 1 tilstand |
| INTUinturned planar cell polarity protein | Alltid | I 2 tilstander |
| KIF7kinesin family member 7 | Alltid | I 1 tilstand |
| LAMA5laminin subunit alpha 5 | Alltid | I 1 tilstand |
| MRPL12mitochondrial ribosomal protein L12 | Alltid | I 1 tilstand |
| MRPS28mitochondrial ribosomal protein S28 | Alltid | I 1 tilstand |
| MYH3myosin heavy chain 3 | Alltid | I 5 tilstander |
| NEK9NIMA related kinase 9 | Alltid | I 1 tilstand |
| NKX3-2NK3 homeobox 2 | Alltid | I 1 tilstand |
| NLRP1NLR family pyrin domain containing 1 | Alltid | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Alltid | I 1 tilstand |
| NUP188nucleoporin 188 | Alltid | I 1 tilstand |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Alltid | I 1 tilstand |
Vis 374 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| PALB2partner and localizer of BRCA2 | Alltid | I 1 tilstand |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alltid | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Alltid | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Alltid | I 2 tilstander |
| RAB33BRAB33B, member RAS oncogene family | Alltid | I 1 tilstand |
| RAB5IFRAB5 interacting factor | Alltid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alltid | I 2 tilstander |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Alltid | I 2 tilstander |
| SOS2SOS Ras/Rho guanine nucleotide exchange factor 2 | Alltid | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Alltid | I 1 tilstand |
| TBX15T-box transcription factor 15 | Alltid | I 2 tilstander |
| TBX5T-box transcription factor 5 | Alltid | I 1 tilstand |
| TECPR2tectonin beta-propeller repeat containing 2 | Alltid | I 2 tilstander |
| TIMM50translocase of inner mitochondrial membrane 50 | Alltid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Alltid | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Alltid | I 2 tilstander |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Alltid | I 4 tilstander |
| TXNDC15thioredoxin domain containing 15 | Alltid | I 1 tilstand |
| WDR35WD repeat domain 35 | Alltid | I 1 tilstand |
| ANTXR2ANTXR cell adhesion molecule 2 | Svært ofte (80–99 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Svært ofte (80–99 %) | I 2 tilstander |
| BMPERBMP binding endothelial regulator | Svært ofte (80–99 %) | I 2 tilstander |
| BRD4bromodomain containing 4 | Svært ofte (80–99 %) | I 1 tilstand |
| CANT1calcium activated nucleotidase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Svært ofte (80–99 %) | I 2 tilstander |
| CD96CD96 molecule | Svært ofte (80–99 %) | I 1 tilstand |
| CDH11cadherin 11 | Svært ofte (80–99 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Svært ofte (80–99 %) | I 2 tilstander |
| COL11A2collagen type XI alpha 2 chain | Svært ofte (80–99 %) | I 2 tilstander |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CUL4Bcullin 4B | Svært ofte (80–99 %) | I 1 tilstand |
| DLL3delta like canonical Notch ligand 3 | Svært ofte (80–99 %) | I 2 tilstander |
| FAM20CFAM20C golgi associated secretory pathway kinase | Svært ofte (80–99 %) | I 2 tilstander |
| GDF3growth differentiation factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Svært ofte (80–99 %) | I 2 tilstander |
| HDAC8histone deacetylase 8 | Svært ofte (80–99 %) | I 2 tilstander |
| HES7hes family bHLH transcription factor 7 | Svært ofte (80–99 %) | I 2 tilstander |
| HNF1BHNF1 homeobox B | Svært ofte (80–99 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 2 tilstander |
| IDUAalpha-L-iduronidase | Svært ofte (80–99 %) | I 3 tilstander |
| INPPL1inositol polyphosphate phosphatase like 1 | Svært ofte (80–99 %) | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Svært ofte (80–99 %) | I 4 tilstander |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| LHX3LIM homeobox 3 | Svært ofte (80–99 %) | I 3 tilstander |
| MAU2MAU2 sister chromatid cohesion factor | Svært ofte (80–99 %) | I 1 tilstand |
| MEOX1mesenchyme homeobox 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MESP2mesoderm posterior bHLH transcription factor 2 | Svært ofte (80–99 %) | I 3 tilstander |
| NALCNsodium leak channel, non-selective | Svært ofte (80–99 %) | I 3 tilstander |
| NBASNBAS subunit of NRZ tethering complex | Svært ofte (80–99 %) | I 1 tilstand |
| NBNnibrin | Svært ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Svært ofte (80–99 %) | I 2 tilstander |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Svært ofte (80–99 %) | I 2 tilstander |
| PSAT1phosphoserine aminotransferase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PTCH1patched 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Svært ofte (80–99 %) | I 1 tilstand |
| RIPPLY2ripply transcriptional repressor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Svært ofte (80–99 %) | I 2 tilstander |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 2 tilstander |
| RSPRY1ring finger and SPRY domain containing 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SCYL2SCY1 like pseudokinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SHOXSHOX homeobox | Svært ofte (80–99 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Svært ofte (80–99 %) | I 3 tilstander |
| SLC35D1solute carrier family 35 member D1 | Svært ofte (80–99 %) | I 2 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Svært ofte (80–99 %) | I 2 tilstander |
| SMC3structural maintenance of chromosomes 3 | Svært ofte (80–99 %) | I 2 tilstander |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Svært ofte (80–99 %) | I 1 tilstand |
| TBC1D7TBC1 domain family member 7 | Svært ofte (80–99 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Svært ofte (80–99 %) | I 2 tilstander |
| TBR1T-box brain transcription factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TBX6T-box transcription factor 6 | Svært ofte (80–99 %) | I 3 tilstander |
| TCF4transcription factor 4 | Svært ofte (80–99 %) | I 2 tilstander |
| TMCO1transmembrane and coiled-coil domains 1 | Svært ofte (80–99 %) | I 2 tilstander |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Svært ofte (80–99 %) | I 2 tilstander |
| WNT4Wnt family member 4 | Svært ofte (80–99 %) | I 2 tilstander |
| XYLT1xylosyltransferase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| XYLT2xylosyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 2 tilstander |
| ACTBactin beta | Ofte (30–79 %) | I 2 tilstander |
| ACTG1actin gamma 1 | Ofte (30–79 %) | I 2 tilstander |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Ofte (30–79 %) | I 2 tilstander |
| ARVCFARVCF delta catenin family member | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofte (30–79 %) | I 2 tilstander |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| GNASGNAS complex locus | Ofte (30–79 %) | I 6 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| MAP2K1mitogen-activated protein kinase kinase 1 | Ofte (30–79 %) | I 4 tilstander |
| MAP2K2mitogen-activated protein kinase kinase 2 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| NOTCH3notch receptor 3 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| PKDCCprotein kinase domain containing, cytoplasmic | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| PUF60poly(U) binding splicing factor 60 | Ofte (30–79 %) | I 3 tilstander |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| TRAF7TNF receptor associated factor 7 | Ofte (30–79 %) | I 1 tilstand |
| TRAPPC2trafficking protein particle complex subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| TRAPPC9trafficking protein particle complex subunit 9 | Ofte (30–79 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Ofte (30–79 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Noen ganger (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Noen ganger (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Noen ganger (5–29 %) | I 1 tilstand |
| BRPF1bromodomain and PHD finger containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CACHD1cache domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP19centrosomal protein 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Noen ganger (5–29 %) | I 1 tilstand |
| CFL2cofilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CHN1chimerin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Noen ganger (5–29 %) | I 3 tilstander |
| DVL3dishevelled segment polarity protein 3 | Noen ganger (5–29 %) | I 2 tilstander |
| ERMARDER membrane associated RNA degradation | Noen ganger (5–29 %) | I 1 tilstand |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| FANCLFA complementation group L | Noen ganger (5–29 %) | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FLNBfilamin B | Noen ganger (5–29 %) | I 4 tilstander |
| FREM2FRAS1 related extracellular matrix 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRA3gamma-aminobutyric acid type A receptor subunit alpha3 | Noen ganger (5–29 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HEATR3HEAT repeat containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Noen ganger (5–29 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Noen ganger (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Noen ganger (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAB21L1mab-21 like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 1 tilstand |
| MAFBMAF bZIP transcription factor B | Noen ganger (5–29 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MAN2B1mannosidase alpha class 2B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Noen ganger (5–29 %) | I 2 tilstander |
| MEGF8multiple EGF like domains 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MICU1mitochondrial calcium uptake 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Noen ganger (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MSL3MSL complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MYL11myosin light chain 11 | Noen ganger (5–29 %) | I 1 tilstand |
| NEBnebulin | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NXNnucleoredoxin | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Noen ganger (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Noen ganger (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Noen ganger (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Noen ganger (5–29 %) | I 1 tilstand |
| PLAAT3phospholipase A and acyltransferase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PLXNA1plexin A1 | Noen ganger (5–29 %) | I 1 tilstand |
| POP1POP1 ribonuclease P/MRP subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Noen ganger (5–29 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL11ribosomal protein L11 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL15ribosomal protein L15 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL18ribosomal protein L18 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL26ribosomal protein L26 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL27ribosomal protein L27 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL31ribosomal protein L31 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL35ribosomal protein L35 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Noen ganger (5–29 %) | I 1 tilstand |
| RPL5ribosomal protein L5 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL8ribosomal protein L8 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL9ribosomal protein L9 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS10ribosomal protein S10 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Noen ganger (5–29 %) | I 1 tilstand |
| RPS17ribosomal protein S17 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS19ribosomal protein S19 | Noen ganger (5–29 %) | I 2 tilstander |
| RPS20ribosomal protein S20 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS24ribosomal protein S24 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS27ribosomal protein S27 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS28ribosomal protein S28 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS29ribosomal protein S29 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS7ribosomal protein S7 | Noen ganger (5–29 %) | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Noen ganger (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Noen ganger (5–29 %) | I 1 tilstand |
| SETD5SET domain containing 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Noen ganger (5–29 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Noen ganger (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Noen ganger (5–29 %) | I 2 tilstander |
| TBX2T-box transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TCTN2tectonic family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TGDSTDP-glucose 4,6-dehydratase | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Noen ganger (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Noen ganger (5–29 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Noen ganger (5–29 %) | I 2 tilstander |
| WWOXWW domain containing oxidoreductase | Noen ganger (5–29 %) | I 1 tilstand |
| FN1fibronectin 1 | Sjelden (1–4%) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Sjelden (1–4%) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Sjelden (1–4%) | I 1 tilstand |
| SMPD4sphingomyelin phosphodiesterase 4 | Sjelden (1–4%) | I 1 tilstand |
| AEBP1AE binding protein 1 | Ikke registrert | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Ikke registrert | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Ikke registrert | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registrert | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ikke registrert | I 1 tilstand |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Ikke registrert | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registrert | I 1 tilstand |
| CDK5cyclin dependent kinase 5 | Ikke registrert | I 1 tilstand |
| CEP55centrosomal protein 55 | Ikke registrert | I 1 tilstand |
| CHST3carbohydrate sulfotransferase 3 | Ikke registrert | I 2 tilstander |
| CRLF1cytokine receptor like factor 1 | Ikke registrert | I 1 tilstand |
| DOK7docking protein 7 | Ikke registrert | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Ikke registrert | I 1 tilstand |
| EFNB1ephrin B1 | Ikke registrert | I 1 tilstand |
| EXOC6Bexocyst complex component 6B | Ikke registrert | I 1 tilstand |
| EXOSC9exosome component 9 | Ikke registrert | I 1 tilstand |
| FBN2fibrillin 2 | Ikke registrert | I 1 tilstand |
| GLB1galactosidase beta 1 | Ikke registrert | I 1 tilstand |
| GPC6glypican 6 | Ikke registrert | I 1 tilstand |
| GPX4glutathione peroxidase 4 | Ikke registrert | I 1 tilstand |
| HSPA9heat shock protein family A (Hsp70) member 9 | Ikke registrert | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registrert | I 1 tilstand |
| KIFBPkinesin family binding protein | Ikke registrert | I 1 tilstand |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Ikke registrert | I 1 tilstand |
| LIFRLIF receptor subunit alpha | Ikke registrert | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ikke registrert | I 1 tilstand |
| MED12mediator complex subunit 12 | Ikke registrert | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registrert | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ikke registrert | I 1 tilstand |
| NANSN-acetylneuraminate synthase | Ikke registrert | I 1 tilstand |
| NF1neurofibromin 1 | Ikke registrert | I 1 tilstand |
| PAM16presequence translocase associated motor 16 | Ikke registrert | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registrert | I 2 tilstander |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Ikke registrert | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Ikke registrert | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| SMAD4SMAD family member 4 | Ikke registrert | I 1 tilstand |
| SPRED1sprouty related EVH1 domain containing 1 | Ikke registrert | I 1 tilstand |
| TALDO1transaldolase 1 | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registrert | I 1 tilstand |
| UNC80unc-80 subunit of NALCN channel complex | Ikke registrert | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Ikke registrert | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registrert | I 2 tilstander |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker