Træk
Long philtrum
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Resumé
- Også kaldet
- Elongated philtrum, Increased height of philtrum, Increased length of philtrum, Increased vertical dimension of philtrum, Vertical hyperplasia of philtrum
- Kropssystem
- Abnormality of head or neck
ReferencegenomGRCh38hg38
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Ændringer i disse gener forårsager sjældne tilstande, hvor Long philtrum 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 |
|---|---|---|
| ALPK3alpha kinase 3 | Altid | I 1 tilstand |
| ANKRD11ankyrin repeat domain 11 | Altid | I 3 tilstande |
| ANTXR1ANTXR cell adhesion molecule 1 | Altid | I 2 tilstande |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altid | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Altid | I 1 tilstand |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Altid | I 4 tilstande |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Altid | I 2 tilstande |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Altid | I 1 tilstand |
| BCORBCL6 corepressor | Altid | I 2 tilstande |
| BMP2bone morphogenetic protein 2 | Altid | I 2 tilstande |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altid | I 2 tilstande |
| CDC6cell division cycle 6 | Altid | I 1 tilstand |
| CDK10cyclin dependent kinase 10 | Altid | I 1 tilstand |
| CEP295centrosomal protein 295 | Altid | I 1 tilstand |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altid | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Altid | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Altid | I 2 tilstande |
| CHST3carbohydrate sulfotransferase 3 | Altid | I 3 tilstande |
| COL2A1collagen type II alpha 1 chain | Altid | I 3 tilstande |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Altid | I 1 tilstand |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Altid | I 1 tilstand |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altid | I 1 tilstand |
| EXOSC1exosome component 1 | Altid | I 1 tilstand |
| EXOSC2exosome component 2 | Altid | I 1 tilstand |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Altid | I 2 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Altid | I 2 tilstande |
| GGCXgamma-glutamyl carboxylase | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 1 tilstand |
| IRX5iroquois homeobox 5 | Altid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Altid | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Altid | I 3 tilstande |
| KDM6Blysine demethylase 6B | Altid | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Altid | I 2 tilstande |
| LTBP4latent transforming growth factor beta binding protein 4 | Altid | I 1 tilstand |
| MAB21L1mab-21 like 1 | Altid | I 2 tilstande |
| MAP2K1mitogen-activated protein kinase kinase 1 | Altid | I 2 tilstande |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altid | I 2 tilstande |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| MOCS3molybdenum cofactor synthesis 3 | Altid | I 1 tilstand |
Vis 420 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| MRPS28mitochondrial ribosomal protein S28 | Altid | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Altid | I 2 tilstande |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altid | I 1 tilstand |
| MYH3myosin heavy chain 3 | Altid | I 3 tilstande |
| MYMXmyomixer, myoblast fusion factor | Altid | I 2 tilstande |
| NALCNsodium leak channel, non-selective | Altid | I 3 tilstande |
| NBNnibrin | Altid | I 1 tilstand |
| NLRP1NLR family pyrin domain containing 1 | Altid | I 1 tilstand |
| NOTCH2notch receptor 2 | Altid | I 2 tilstande |
| NSD2nuclear receptor binding SET domain protein 2 | Altid | I 1 tilstand |
| NXNnucleoredoxin | Altid | I 2 tilstande |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altid | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Altid | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altid | I 1 tilstand |
| PKDCCprotein kinase domain containing, cytoplasmic | Altid | I 1 tilstand |
| POC1APOC1 centriolar protein A | Altid | I 1 tilstand |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Altid | I 1 tilstand |
| PRMT7protein arginine methyltransferase 7 | Altid | I 2 tilstande |
| PUF60poly(U) binding splicing factor 60 | Altid | I 3 tilstande |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altid | I 1 tilstand |
| RAC3Rac family small GTPase 3 | Altid | I 1 tilstand |
| RIN2Ras and Rab interactor 2 | Altid | I 2 tilstande |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Altid | I 2 tilstande |
| RPL10ribosomal protein L10 | Altid | I 2 tilstande |
| SATB2SATB homeobox 2 | Altid | I 4 tilstande |
| SC5Dsterol-C5-desaturase | Altid | I 2 tilstande |
| SCAF4SR-related CTD associated factor 4 | Altid | I 1 tilstand |
| SEC23ASEC23 homolog A, COPII component | Altid | I 2 tilstande |
| SETD5SET domain containing 5 | Altid | I 2 tilstande |
| SIN3ASIN3 transcription regulator family member A | Altid | I 2 tilstande |
| SLC6A17solute carrier family 6 member 17 | Altid | I 2 tilstande |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altid | I 1 tilstand |
| TAF8TATA-box binding protein associated factor 8 | Altid | I 1 tilstand |
| TBCEtubulin folding cofactor E | Altid | I 2 tilstande |
| TBX5T-box transcription factor 5 | Altid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Altid | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Altid | I 4 tilstande |
| UBAP2Lubiquitin associated protein 2 like | Altid | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Altid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altid | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altid | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Altid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altid | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Meget ofte (80–99 %) | I 2 tilstande |
| ACTBactin beta | Meget ofte (80–99 %) | I 2 tilstande |
| ACTG1actin gamma 1 | Meget ofte (80–99 %) | I 2 tilstande |
| ADAMTSL2ADAMTS like 2 | Meget ofte (80–99 %) | I 2 tilstande |
| ADSLadenylosuccinate lyase | Meget ofte (80–99 %) | I 2 tilstande |
| ATP6V1AATPase H+ transporting V1 subunit A | Meget ofte (80–99 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Meget ofte (80–99 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Meget ofte (80–99 %) | I 2 tilstande |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Meget ofte (80–99 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Meget ofte (80–99 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Meget ofte (80–99 %) | I 2 tilstande |
| BRPF1bromodomain and PHD finger containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Meget ofte (80–99 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CD96CD96 molecule | Meget ofte (80–99 %) | I 1 tilstand |
| CLCF1cardiotrophin like cytokine factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| COL11A1collagen type XI alpha 1 chain | Meget ofte (80–99 %) | I 3 tilstande |
| COL11A2collagen type XI alpha 2 chain | Meget ofte (80–99 %) | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Meget ofte (80–99 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Meget ofte (80–99 %) | I 2 tilstande |
| DVL1dishevelled segment polarity protein 1 | Meget ofte (80–99 %) | I 3 tilstande |
| EIF4Heukaryotic translation initiation factor 4H | Meget ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Meget ofte (80–99 %) | I 3 tilstande |
| EXT1exostosin glycosyltransferase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| FBN1fibrillin 1 | Meget ofte (80–99 %) | I 4 tilstande |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Meget ofte (80–99 %) | I 2 tilstande |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Meget ofte (80–99 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Meget ofte (80–99 %) | I 1 tilstand |
| GPC6glypican 6 | Meget ofte (80–99 %) | I 2 tilstande |
| GTF2Igeneral transcription factor IIi | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Meget ofte (80–99 %) | I 2 tilstande |
| HSPG2heparan sulfate proteoglycan 2 | Meget ofte (80–99 %) | I 2 tilstande |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Meget ofte (80–99 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LTBP1latent transforming growth factor beta binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| LTBP3latent transforming growth factor beta binding protein 3 | Meget ofte (80–99 %) | I 3 tilstande |
| LUZP1leucine zipper protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Meget ofte (80–99 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Meget ofte (80–99 %) | I 2 tilstande |
| METTL27methyltransferase like 27 | Meget ofte (80–99 %) | I 1 tilstand |
| MID1midline 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Meget ofte (80–99 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Meget ofte (80–99 %) | I 1 tilstand |
| NBASNBAS subunit of NRZ tethering complex | Meget ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Meget ofte (80–99 %) | I 2 tilstande |
| NSD1nuclear receptor binding SET domain protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PDPNpodoplanin | Meget ofte (80–99 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Meget ofte (80–99 %) | I 2 tilstande |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Meget ofte (80–99 %) | I 2 tilstande |
| PRDM16PR/SET domain 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Meget ofte (80–99 %) | I 1 tilstand |
| PUS1pseudouridine synthase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Meget ofte (80–99 %) | I 3 tilstande |
| RELREL proto-oncogene, NF-kB subunit | Meget ofte (80–99 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Meget ofte (80–99 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| RNF135ring finger protein 135 | Meget ofte (80–99 %) | I 1 tilstand |
| SKISKI proto-oncogene | Meget ofte (80–99 %) | I 1 tilstand |
| SLC26A2solute carrier family 26 member 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Meget ofte (80–99 %) | I 2 tilstande |
| SMC1Astructural maintenance of chromosomes 1A | Meget ofte (80–99 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Meget ofte (80–99 %) | I 2 tilstande |
| SNX14sorting nexin 14 | Meget ofte (80–99 %) | I 2 tilstande |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Meget ofte (80–99 %) | I 2 tilstande |
| SPENspen family transcriptional repressor | Meget ofte (80–99 %) | I 2 tilstande |
| STX1Asyntaxin 1A | Meget ofte (80–99 %) | I 1 tilstand |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Meget ofte (80–99 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Meget ofte (80–99 %) | I 2 tilstande |
| TBL2transducin beta like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Meget ofte (80–99 %) | I 1 tilstand |
| TRIP11thyroid hormone receptor interactor 11 | Meget ofte (80–99 %) | I 2 tilstande |
| UBE4Bubiquitination factor E4B | Meget ofte (80–99 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Meget ofte (80–99 %) | I 1 tilstand |
| XPO1exportin 1 | Meget ofte (80–99 %) | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Meget ofte (80–99 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Ofte (30–79 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Ofte (30–79 %) | I 2 tilstande |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Ofte (30–79 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Ofte (30–79 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Ofte (30–79 %) | I 1 tilstand |
| ARSKarylsulfatase family member K | Ofte (30–79 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Ofte (30–79 %) | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ofte (30–79 %) | I 2 tilstande |
| B3GALT6beta-1,3-galactosyltransferase 6 | Ofte (30–79 %) | I 2 tilstande |
| BAP1BRCA1 associated deubiquitinase 1 | Ofte (30–79 %) | I 1 tilstand |
| BCL11BBCL11 transcription factor B | Ofte (30–79 %) | I 1 tilstand |
| BMP1bone morphogenetic protein 1 | Ofte (30–79 %) | I 1 tilstand |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 2 tilstande |
| CANT1calcium activated nucleotidase 1 | Ofte (30–79 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Ofte (30–79 %) | I 2 tilstande |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Ofte (30–79 %) | I 2 tilstande |
| CCNKcyclin K | Ofte (30–79 %) | I 1 tilstand |
| CLCN6Cl-/H+ antiporter 6 | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 2 tilstande |
| COMTcatechol-O-methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 1 tilstand |
| CUL7cullin 7 | Ofte (30–79 %) | I 2 tilstande |
| DBR1debranching RNA lariats 1 | Ofte (30–79 %) | I 1 tilstand |
| DDR2discoidin domain receptor tyrosine kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ofte (30–79 %) | I 2 tilstande |
| DVL3dishevelled segment polarity protein 3 | Ofte (30–79 %) | I 2 tilstande |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Ofte (30–79 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| EXOC2exocyst complex component 2 | Ofte (30–79 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Ofte (30–79 %) | I 2 tilstande |
| FGF3fibroblast growth factor 3 | Ofte (30–79 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Ofte (30–79 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Ofte (30–79 %) | I 3 tilstande |
| GON4Lgon-4 like | Ofte (30–79 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Ofte (30–79 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Ofte (30–79 %) | I 1 tilstand |
| HMBShydroxymethylbilane synthase | Ofte (30–79 %) | I 1 tilstand |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Ofte (30–79 %) | I 1 tilstand |
| IFT80intraflagellar transport 80 | Ofte (30–79 %) | I 1 tilstand |
| IFT81intraflagellar transport 81 | Ofte (30–79 %) | I 1 tilstand |
| INTS1integrator complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Ofte (30–79 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ofte (30–79 %) | I 1 tilstand |
| KMT2Alysine methyltransferase 2A | Ofte (30–79 %) | I 2 tilstande |
| MAFMAF bZIP transcription factor | Ofte (30–79 %) | I 2 tilstande |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 3 tilstande |
| METTL23methyltransferase 23, arginine | Ofte (30–79 %) | I 1 tilstand |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Ofte (30–79 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Ofte (30–79 %) | I 1 tilstand |
| MYO18Bmyosin XVIIIB | Ofte (30–79 %) | I 1 tilstand |
| MYOD1myogenic differentiation 1 | Ofte (30–79 %) | I 1 tilstand |
| NEK9NIMA related kinase 9 | Ofte (30–79 %) | I 1 tilstand |
| NOS3nitric oxide synthase 3 | Ofte (30–79 %) | I 1 tilstand |
| OBSL1obscurin like cytoskeletal adaptor 1 | Ofte (30–79 %) | I 2 tilstande |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Ofte (30–79 %) | I 2 tilstande |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Ofte (30–79 %) | I 2 tilstande |
| PLAAphospholipase A2 activating protein | Ofte (30–79 %) | I 2 tilstande |
| PMM2phosphomannomutase 2 | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Ofte (30–79 %) | I 1 tilstand |
| PTCH1patched 1 | Ofte (30–79 %) | I 1 tilstand |
| PTH1Rparathyroid hormone 1 receptor | Ofte (30–79 %) | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Ofte (30–79 %) | I 1 tilstand |
| RAP1BRAP1B, member of RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RIC1RIC1 partner of RAB6A GEF complex | 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 |
| SEC24CSEC24 homolog C, COPII component | Ofte (30–79 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 2 tilstande |
| TASP1taspase 1 | Ofte (30–79 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Ofte (30–79 %) | I 1 tilstand |
| THSD1thrombospondin type 1 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| TMEM147transmembrane protein 147 | Ofte (30–79 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Ofte (30–79 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Ofte (30–79 %) | I 1 tilstand |
| TUBBtubulin beta class I | Ofte (30–79 %) | I 2 tilstande |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Ofte (30–79 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| WDR35WD repeat domain 35 | Ofte (30–79 %) | I 1 tilstand |
| WNT5AWnt family member 5A | Ofte (30–79 %) | I 2 tilstande |
| XYLT1xylosyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| ZFXzinc finger protein X-linked | Ofte (30–79 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Nogle gange (5–29 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 1 tilstand |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Nogle gange (5–29 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Nogle gange (5–29 %) | I 2 tilstande |
| ARL6ARF like GTPase 6 | Nogle gange (5–29 %) | I 1 tilstand |
| ATXN7L3ataxin 7 like 3 | Nogle gange (5–29 %) | I 1 tilstand |
| B4GALT1beta-1,4-galactosyltransferase 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 |
| BBS2Bardet-Biedl syndrome 2 | 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 |
| BRF1BRF1 general transcription factor IIIB subunit | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Nogle gange (5–29 %) | I 2 tilstande |
| CDH2cadherin 2 | 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 |
| CHRNGcholinergic receptor nicotinic gamma subunit | Nogle gange (5–29 %) | I 2 tilstande |
| CLCN3Cl-/H+ antiporter 3 | Nogle gange (5–29 %) | I 1 tilstand |
| COG3component of oligomeric golgi complex 3 | Nogle gange (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Nogle gange (5–29 %) | I 1 tilstand |
| CTCFCCCTC-binding factor | Nogle gange (5–29 %) | I 2 tilstande |
| CTNNB1catenin beta 1 | Nogle gange (5–29 %) | I 2 tilstande |
| DLK1delta like non-canonical Notch ligand 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DLL3delta like canonical Notch ligand 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ERFETS2 repressor factor | Nogle gange (5–29 %) | I 1 tilstand |
| EXOC7exocyst complex component 7 | Nogle gange (5–29 %) | I 1 tilstand |
| EXTL3exostosin like glycosyltransferase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Nogle gange (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Nogle gange (5–29 %) | I 1 tilstand |
| FEM1Bfem-1 homolog B | Nogle gange (5–29 %) | I 1 tilstand |
| FILIP1filamin A interacting protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Nogle gange (5–29 %) | I 1 tilstand |
| FRYLFRY like transcription coactivator | Nogle gange (5–29 %) | I 1 tilstand |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GAD1glutamate decarboxylase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| H3-3BH3.3 histone B | Nogle gange (5–29 %) | I 1 tilstand |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Nogle gange (5–29 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | 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 |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF11kinesin family member 11 | Nogle gange (5–29 %) | I 2 tilstande |
| KIF26Akinesin family member 26A | Nogle gange (5–29 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 1 tilstand |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LZTR1leucine zipper like post translational regulator 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAB21L2mab-21 like 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Nogle gange (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MEIS2Meis homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MESP2mesoderm posterior bHLH transcription factor 2 | 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 1 tilstand |
| MPC1mitochondrial pyruvate carrier 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MTX2metaxin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 2 tilstande |
| NF1neurofibromin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NOTCH3notch receptor 3 | Nogle gange (5–29 %) | I 2 tilstande |
| NPHP1nephrocystin 1 | Nogle gange (5–29 %) | I 1 tilstand |
| NSRP1nuclear speckle splicing regulatory protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Nogle gange (5–29 %) | I 1 tilstand |
| PAHphenylalanine hydroxylase | Nogle gange (5–29 %) | I 1 tilstand |
| PCDHGC4protocadherin gamma subfamily C, 4 | Nogle gange (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Nogle gange (5–29 %) | I 1 tilstand |
| PGM2L1phosphoglucomutase 2 like 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Nogle gange (5–29 %) | I 1 tilstand |
| PLPBPpyridoxal phosphate binding protein | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Nogle gange (5–29 %) | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Nogle gange (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Nogle gange (5–29 %) | I 2 tilstande |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Nogle gange (5–29 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| RAI1retinoic acid induced 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Nogle gange (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RIPPLY2ripply transcriptional repressor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | 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 |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Nogle gange (5–29 %) | I 1 tilstand |
| SHMT2serine hydroxymethyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC9A7solute carrier family 9 member A7 | Nogle gange (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Nogle gange (5–29 %) | I 1 tilstand |
| SMG8SMG8 nonsense mediated mRNA decay factor | Nogle gange (5–29 %) | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SNAI2snail family transcriptional repressor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Nogle gange (5–29 %) | I 1 tilstand |
| SPRED2sprouty related EVH1 domain containing 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TAF6TATA-box binding protein associated factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Nogle gange (5–29 %) | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Nogle gange (5–29 %) | I 2 tilstande |
| TBX6T-box transcription factor 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TMEM53transmembrane protein 53 | Nogle gange (5–29 %) | I 1 tilstand |
| TPM3tropomyosin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Nogle gange (5–29 %) | I 3 tilstande |
| TRIP12thyroid hormone receptor interactor 12 | Nogle gange (5–29 %) | I 1 tilstand |
| TRMT10AtRNA methyltransferase 10A | Nogle gange (5–29 %) | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Nogle gange (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Nogle gange (5–29 %) | I 1 tilstand |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Nogle gange (5–29 %) | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Nogle gange (5–29 %) | I 2 tilstande |
| WDPCPWD repeat containing planar cell polarity effector | Nogle gange (5–29 %) | I 1 tilstand |
| XYLT2xylosyltransferase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Nogle gange (5–29 %) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Sjældent (1–4%) | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Sjældent (1–4%) | I 1 tilstand |
| EPG5ectopic P-granules 5 autophagy tethering factor | Sjældent (1–4%) | I 1 tilstand |
| FLNAfilamin A | Sjældent (1–4%) | I 1 tilstand |
| GJA5gap junction protein alpha 5 | Sjældent (1–4%) | I 1 tilstand |
| GJA8gap junction protein alpha 8 | Sjældent (1–4%) | I 1 tilstand |
| H3-3AH3.3 histone A | Sjældent (1–4%) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Sjældent (1–4%) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Sjældent (1–4%) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Sjældent (1–4%) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC6A1solute carrier family 6 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Sjældent (1–4%) | I 1 tilstand |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Ikke registreret | I 1 tilstand |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Ikke registreret | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registreret | I 1 tilstand |
| ATN1atrophin 1 | Ikke registreret | I 1 tilstand |
| AVParginine vasopressin | Ikke registreret | I 1 tilstand |
| BRAT1BRCA1 associated ATM activator 1 | Ikke registreret | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registreret | I 1 tilstand |
| C12orf57chromosome 12 open reading frame 57 | Ikke registreret | I 1 tilstand |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Ikke registreret | I 1 tilstand |
| CBLCbl proto-oncogene | Ikke registreret | I 1 tilstand |
| CDH11cadherin 11 | Ikke registreret | I 1 tilstand |
| CLTCclathrin heavy chain | Ikke registreret | I 1 tilstand |
| CRTAPcartilage associated protein | Ikke registreret | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Ikke registreret | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Ikke registreret | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Ikke registreret | I 1 tilstand |
| GJA1gap junction protein alpha 1 | Ikke registreret | I 1 tilstand |
| GLIS3GLIS family zinc finger 3 | Ikke registreret | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ikke registreret | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ikke registreret | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ikke registreret | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Ikke registreret | I 1 tilstand |
| INPPL1inositol polyphosphate phosphatase like 1 | Ikke registreret | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registreret | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registreret | I 1 tilstand |
| MUSKmuscle associated receptor tyrosine kinase | Ikke registreret | I 1 tilstand |
| NFIBnuclear factor I B | Ikke registreret | I 1 tilstand |
| NRASNRAS proto-oncogene, GTPase | Ikke registreret | I 1 tilstand |
| OCLNoccludin | Ikke registreret | I 1 tilstand |
| PCLOpiccolo presynaptic cytomatrix protein | Ikke registreret | I 1 tilstand |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Ikke registreret | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registreret | I 1 tilstand |
| PORcytochrome p450 oxidoreductase | Ikke registreret | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Ikke registreret | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registreret | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Ikke registreret | I 1 tilstand |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Ikke registreret | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ikke registreret | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Ikke registreret | I 1 tilstand |
| TENM3teneurin transmembrane protein 3 | Ikke registreret | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ikke registreret | I 1 tilstand |
| TNNI2troponin I2, fast skeletal type | Ikke registreret | I 1 tilstand |
| TNPO2transportin 2 | Ikke registreret | I 1 tilstand |
| TRAPPC4trafficking protein particle complex subunit 4 | Ikke registreret | I 1 tilstand |
| ZC4H2zinc finger C4H2-type containing | Ikke registreret | I 2 tilstande |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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