Kenmerk
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.
Samenvatting
- Ook bekend als
- Elongated philtrum, Increased height of philtrum, Increased length of philtrum, Increased vertical dimension of philtrum, Vertical hyperplasia of philtrum
- Lichaamssysteem
- Abnormality of head or neck
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Long philtrum voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ALPK3alpha kinase 3 | Altijd | In 1 aandoening |
| ANKRD11ankyrin repeat domain 11 | Altijd | In 3 aandoeningen |
| ANTXR1ANTXR cell adhesion molecule 1 | Altijd | In 2 aandoeningen |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Altijd | In 1 aandoening |
| ARID2AT-rich interaction domain 2 | Altijd | In 1 aandoening |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Altijd | In 4 aandoeningen |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Altijd | In 2 aandoeningen |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Altijd | In 1 aandoening |
| BCORBCL6 corepressor | Altijd | In 2 aandoeningen |
| BMP2bone morphogenetic protein 2 | Altijd | In 2 aandoeningen |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Altijd | In 2 aandoeningen |
| CDC6cell division cycle 6 | Altijd | In 1 aandoening |
| CDK10cyclin dependent kinase 10 | Altijd | In 1 aandoening |
| CEP295centrosomal protein 295 | Altijd | In 1 aandoening |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Altijd | In 1 aandoening |
| CHD8chromodomain helicase DNA binding protein 8 | Altijd | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Altijd | In 2 aandoeningen |
| CHST3carbohydrate sulfotransferase 3 | Altijd | In 3 aandoeningen |
| COL2A1collagen type II alpha 1 chain | Altijd | In 3 aandoeningen |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Altijd | In 1 aandoening |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Altijd | In 1 aandoening |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Altijd | In 1 aandoening |
| EXOSC1exosome component 1 | Altijd | In 1 aandoening |
| EXOSC2exosome component 2 | Altijd | In 1 aandoening |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Altijd | In 2 aandoeningen |
| FGFR1fibroblast growth factor receptor 1 | Altijd | In 2 aandoeningen |
| GGCXgamma-glutamyl carboxylase | Altijd | In 1 aandoening |
| IFT140intraflagellar transport 140 | Altijd | In 1 aandoening |
| IRX5iroquois homeobox 5 | Altijd | In 1 aandoening |
| JKAMPJNK1/MAPK8 associated membrane protein | Altijd | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Altijd | In 1 aandoening |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Altijd | In 3 aandoeningen |
| KDM6Blysine demethylase 6B | Altijd | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Altijd | In 2 aandoeningen |
| LTBP4latent transforming growth factor beta binding protein 4 | Altijd | In 1 aandoening |
| MAB21L1mab-21 like 1 | Altijd | In 2 aandoeningen |
| MAP2K1mitogen-activated protein kinase kinase 1 | Altijd | In 2 aandoeningen |
| MAP2K2mitogen-activated protein kinase kinase 2 | Altijd | In 2 aandoeningen |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| MOCS3molybdenum cofactor synthesis 3 | Altijd | In 1 aandoening |
Toon nog 420 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| MRPS28mitochondrial ribosomal protein S28 | Altijd | In 1 aandoening |
| MTORmechanistic target of rapamycin kinase | Altijd | In 2 aandoeningen |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Altijd | In 1 aandoening |
| MYH3myosin heavy chain 3 | Altijd | In 3 aandoeningen |
| MYMXmyomixer, myoblast fusion factor | Altijd | In 2 aandoeningen |
| NALCNsodium leak channel, non-selective | Altijd | In 3 aandoeningen |
| NBNnibrin | Altijd | In 1 aandoening |
| NLRP1NLR family pyrin domain containing 1 | Altijd | In 1 aandoening |
| NOTCH2notch receptor 2 | Altijd | In 2 aandoeningen |
| NSD2nuclear receptor binding SET domain protein 2 | Altijd | In 1 aandoening |
| NXNnucleoredoxin | Altijd | In 2 aandoeningen |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altijd | In 1 aandoening |
| PEX26peroxisomal biogenesis factor 26 | Altijd | In 1 aandoening |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Altijd | In 1 aandoening |
| PKDCCprotein kinase domain containing, cytoplasmic | Altijd | In 1 aandoening |
| POC1APOC1 centriolar protein A | Altijd | In 1 aandoening |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Altijd | In 1 aandoening |
| PRMT7protein arginine methyltransferase 7 | Altijd | In 2 aandoeningen |
| PUF60poly(U) binding splicing factor 60 | Altijd | In 3 aandoeningen |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altijd | In 1 aandoening |
| RAC3Rac family small GTPase 3 | Altijd | In 1 aandoening |
| RIN2Ras and Rab interactor 2 | Altijd | In 2 aandoeningen |
| RNU2-2RNA, U2 small nuclear 2 | Altijd | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Altijd | In 2 aandoeningen |
| RPL10ribosomal protein L10 | Altijd | In 2 aandoeningen |
| SATB2SATB homeobox 2 | Altijd | In 4 aandoeningen |
| SC5Dsterol-C5-desaturase | Altijd | In 2 aandoeningen |
| SCAF4SR-related CTD associated factor 4 | Altijd | In 1 aandoening |
| SEC23ASEC23 homolog A, COPII component | Altijd | In 2 aandoeningen |
| SETD5SET domain containing 5 | Altijd | In 2 aandoeningen |
| SIN3ASIN3 transcription regulator family member A | Altijd | In 2 aandoeningen |
| SLC6A17solute carrier family 6 member 17 | Altijd | In 2 aandoeningen |
| SPOUT1SPOUT domain containing methyltransferase 1 | Altijd | In 1 aandoening |
| TAF8TATA-box binding protein associated factor 8 | Altijd | In 1 aandoening |
| TBCEtubulin folding cofactor E | Altijd | In 2 aandoeningen |
| TBX5T-box transcription factor 5 | Altijd | In 1 aandoening |
| TOR1Atorsin family 1 member A | Altijd | In 1 aandoening |
| TRPS1transcriptional repressor GATA binding 1 | Altijd | In 4 aandoeningen |
| UBAP2Lubiquitin associated protein 2 like | Altijd | In 1 aandoening |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Altijd | In 1 aandoening |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Altijd | In 1 aandoening |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Altijd | In 1 aandoening |
| WWOXWW domain containing oxidoreductase | Altijd | In 1 aandoening |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altijd | In 1 aandoening |
| ABCC9ATP binding cassette subfamily C member 9 | Heel vaak (80–99%) | In 2 aandoeningen |
| ACTBactin beta | Heel vaak (80–99%) | In 2 aandoeningen |
| ACTG1actin gamma 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| ADAMTSL2ADAMTS like 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| ADSLadenylosuccinate lyase | Heel vaak (80–99%) | In 2 aandoeningen |
| ATP6V1AATPase H+ transporting V1 subunit A | Heel vaak (80–99%) | In 1 aandoening |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Heel vaak (80–99%) | In 1 aandoening |
| B3GLCTbeta 3-glucosyltransferase | Heel vaak (80–99%) | In 2 aandoeningen |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Heel vaak (80–99%) | In 1 aandoening |
| BCL11ABCL11 transcription factor A | Heel vaak (80–99%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Heel vaak (80–99%) | In 2 aandoeningen |
| BRPF1bromodomain and PHD finger containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Heel vaak (80–99%) | In 1 aandoening |
| CASZ1castor zinc finger 1 | Heel vaak (80–99%) | In 1 aandoening |
| CD96CD96 molecule | Heel vaak (80–99%) | In 1 aandoening |
| CLCF1cardiotrophin like cytokine factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Heel vaak (80–99%) | In 1 aandoening |
| COL11A1collagen type XI alpha 1 chain | Heel vaak (80–99%) | In 3 aandoeningen |
| COL11A2collagen type XI alpha 2 chain | Heel vaak (80–99%) | In 1 aandoening |
| CRLF1cytokine receptor like factor 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Heel vaak (80–99%) | In 1 aandoening |
| DSEdermatan sulfate epimerase | Heel vaak (80–99%) | In 2 aandoeningen |
| DVL1dishevelled segment polarity protein 1 | Heel vaak (80–99%) | In 3 aandoeningen |
| EIF4Heukaryotic translation initiation factor 4H | Heel vaak (80–99%) | In 1 aandoening |
| ELNelastin | Heel vaak (80–99%) | In 3 aandoeningen |
| EXT1exostosin glycosyltransferase 1 | Heel vaak (80–99%) | In 1 aandoening |
| FBN1fibrillin 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Heel vaak (80–99%) | In 1 aandoening |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Heel vaak (80–99%) | In 1 aandoening |
| GPC6glypican 6 | Heel vaak (80–99%) | In 2 aandoeningen |
| GTF2Igeneral transcription factor IIi | Heel vaak (80–99%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Heel vaak (80–99%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Heel vaak (80–99%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Heel vaak (80–99%) | In 2 aandoeningen |
| HSPG2heparan sulfate proteoglycan 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Heel vaak (80–99%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Heel vaak (80–99%) | In 1 aandoening |
| LTBP1latent transforming growth factor beta binding protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| LTBP3latent transforming growth factor beta binding protein 3 | Heel vaak (80–99%) | In 3 aandoeningen |
| LUZP1leucine zipper protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Heel vaak (80–99%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Heel vaak (80–99%) | In 2 aandoeningen |
| METTL27methyltransferase like 27 | Heel vaak (80–99%) | In 1 aandoening |
| MID1midline 1 | Heel vaak (80–99%) | In 1 aandoening |
| MMP23Bmatrix metallopeptidase 23B | Heel vaak (80–99%) | In 1 aandoening |
| MYMKmyomaker, myoblast fusion factor | Heel vaak (80–99%) | In 1 aandoening |
| NBASNBAS subunit of NRZ tethering complex | Heel vaak (80–99%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Heel vaak (80–99%) | In 2 aandoeningen |
| NSD1nuclear receptor binding SET domain protein 1 | Heel vaak (80–99%) | In 1 aandoening |
| PDPNpodoplanin | Heel vaak (80–99%) | In 1 aandoening |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Heel vaak (80–99%) | In 2 aandoeningen |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Heel vaak (80–99%) | In 2 aandoeningen |
| PRDM16PR/SET domain 16 | Heel vaak (80–99%) | In 1 aandoening |
| PRKCZprotein kinase C zeta | Heel vaak (80–99%) | In 1 aandoening |
| PUS1pseudouridine synthase 1 | Heel vaak (80–99%) | In 1 aandoening |
| RAD21RAD21 cohesin complex component | Heel vaak (80–99%) | In 3 aandoeningen |
| RELREL proto-oncogene, NF-kB subunit | Heel vaak (80–99%) | In 1 aandoening |
| REREarginine-glutamic acid dipeptide repeats | Heel vaak (80–99%) | In 1 aandoening |
| RFC2replication factor C subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| RNF135ring finger protein 135 | Heel vaak (80–99%) | In 1 aandoening |
| SKISKI proto-oncogene | Heel vaak (80–99%) | In 1 aandoening |
| SLC26A2solute carrier family 26 member 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Heel vaak (80–99%) | In 2 aandoeningen |
| SMC1Astructural maintenance of chromosomes 1A | Heel vaak (80–99%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Heel vaak (80–99%) | In 2 aandoeningen |
| SNX14sorting nexin 14 | Heel vaak (80–99%) | In 2 aandoeningen |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Heel vaak (80–99%) | In 2 aandoeningen |
| SPENspen family transcriptional repressor | Heel vaak (80–99%) | In 2 aandoeningen |
| STX1Asyntaxin 1A | Heel vaak (80–99%) | In 1 aandoening |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Heel vaak (80–99%) | In 1 aandoening |
| TBC1D24TBC1 domain family member 24 | Heel vaak (80–99%) | In 2 aandoeningen |
| TBL2transducin beta like 2 | Heel vaak (80–99%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Heel vaak (80–99%) | In 1 aandoening |
| TRIP11thyroid hormone receptor interactor 11 | Heel vaak (80–99%) | In 2 aandoeningen |
| UBE4Bubiquitination factor E4B | Heel vaak (80–99%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Heel vaak (80–99%) | In 1 aandoening |
| XPO1exportin 1 | Heel vaak (80–99%) | In 1 aandoening |
| YARS2tyrosyl-tRNA synthetase 2 | Heel vaak (80–99%) | In 1 aandoening |
| AARS1alanyl-tRNA synthetase 1 | Vaak (30–79%) | In 1 aandoening |
| ADNPactivity dependent neuroprotector homeobox | Vaak (30–79%) | In 1 aandoening |
| AFF4ALF transcription elongation factor 4 | Vaak (30–79%) | In 2 aandoeningen |
| AHDC1AT-hook DNA binding motif containing 1 | Vaak (30–79%) | In 1 aandoening |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Vaak (30–79%) | In 1 aandoening |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Vaak (30–79%) | In 1 aandoening |
| APCAPC regulator of Wnt signaling pathway | Vaak (30–79%) | In 1 aandoening |
| ARSKarylsulfatase family member K | Vaak (30–79%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Vaak (30–79%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Vaak (30–79%) | In 2 aandoeningen |
| B3GALT6beta-1,3-galactosyltransferase 6 | Vaak (30–79%) | In 2 aandoeningen |
| BAP1BRCA1 associated deubiquitinase 1 | Vaak (30–79%) | In 1 aandoening |
| BCL11BBCL11 transcription factor B | Vaak (30–79%) | In 1 aandoening |
| BMP1bone morphogenetic protein 1 | Vaak (30–79%) | In 1 aandoening |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Vaak (30–79%) | In 1 aandoening |
| CAMTA1calmodulin binding transcription activator 1 | Vaak (30–79%) | In 2 aandoeningen |
| CANT1calcium activated nucleotidase 1 | Vaak (30–79%) | In 1 aandoening |
| CASKcalcium/calmodulin dependent serine protein kinase | Vaak (30–79%) | In 2 aandoeningen |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Vaak (30–79%) | In 2 aandoeningen |
| CCNKcyclin K | Vaak (30–79%) | In 1 aandoening |
| CLCN6Cl-/H+ antiporter 6 | Vaak (30–79%) | In 1 aandoening |
| COG1component of oligomeric golgi complex 1 | Vaak (30–79%) | In 2 aandoeningen |
| COMTcatechol-O-methyltransferase | Vaak (30–79%) | In 1 aandoening |
| CPLX1complexin 1 | Vaak (30–79%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Vaak (30–79%) | In 1 aandoening |
| CUL7cullin 7 | Vaak (30–79%) | In 2 aandoeningen |
| DBR1debranching RNA lariats 1 | Vaak (30–79%) | In 1 aandoening |
| DDR2discoidin domain receptor tyrosine kinase 2 | Vaak (30–79%) | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Vaak (30–79%) | In 2 aandoeningen |
| DVL3dishevelled segment polarity protein 3 | Vaak (30–79%) | In 2 aandoeningen |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Vaak (30–79%) | In 1 aandoening |
| DYNC2I1dynein 2 intermediate chain 1 | Vaak (30–79%) | In 1 aandoening |
| DYNC2I2dynein 2 intermediate chain 2 | Vaak (30–79%) | In 1 aandoening |
| EMILIN1elastin microfibril interfacer 1 | Vaak (30–79%) | In 1 aandoening |
| EXOC2exocyst complex component 2 | Vaak (30–79%) | In 1 aandoening |
| EXT2exostosin glycosyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| FAR1fatty acyl-CoA reductase 1 | Vaak (30–79%) | In 2 aandoeningen |
| FGF3fibroblast growth factor 3 | Vaak (30–79%) | In 1 aandoening |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Vaak (30–79%) | In 1 aandoening |
| FZD2frizzled class receptor 2 | Vaak (30–79%) | In 3 aandoeningen |
| GON4Lgon-4 like | Vaak (30–79%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Vaak (30–79%) | In 1 aandoening |
| HIRAhistone cell cycle regulator | Vaak (30–79%) | In 1 aandoening |
| HMBShydroxymethylbilane synthase | Vaak (30–79%) | In 1 aandoening |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Vaak (30–79%) | In 1 aandoening |
| IFT80intraflagellar transport 80 | Vaak (30–79%) | In 1 aandoening |
| IFT81intraflagellar transport 81 | Vaak (30–79%) | In 1 aandoening |
| INTS1integrator complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Vaak (30–79%) | In 1 aandoening |
| KAT6Blysine acetyltransferase 6B | Vaak (30–79%) | In 1 aandoening |
| KMT2Alysine methyltransferase 2A | Vaak (30–79%) | In 2 aandoeningen |
| MAFMAF bZIP transcription factor | Vaak (30–79%) | In 2 aandoeningen |
| MED12mediator complex subunit 12 | Vaak (30–79%) | In 3 aandoeningen |
| METTL23methyltransferase 23, arginine | Vaak (30–79%) | In 1 aandoening |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Vaak (30–79%) | In 1 aandoening |
| MLXIPLMLX interacting protein like | Vaak (30–79%) | In 1 aandoening |
| MYO18Bmyosin XVIIIB | Vaak (30–79%) | In 1 aandoening |
| MYOD1myogenic differentiation 1 | Vaak (30–79%) | In 1 aandoening |
| NEK9NIMA related kinase 9 | Vaak (30–79%) | In 1 aandoening |
| NOS3nitric oxide synthase 3 | Vaak (30–79%) | In 1 aandoening |
| OBSL1obscurin like cytoskeletal adaptor 1 | Vaak (30–79%) | In 2 aandoeningen |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Vaak (30–79%) | In 1 aandoening |
| OTUD6BOTU deubiquitinase 6B | Vaak (30–79%) | In 2 aandoeningen |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Vaak (30–79%) | In 2 aandoeningen |
| PLAAphospholipase A2 activating protein | Vaak (30–79%) | In 2 aandoeningen |
| PMM2phosphomannomutase 2 | Vaak (30–79%) | In 1 aandoening |
| POLR3ARNA polymerase III subunit A | Vaak (30–79%) | In 1 aandoening |
| POU4F1POU class 4 homeobox 1 | Vaak (30–79%) | In 1 aandoening |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Vaak (30–79%) | In 1 aandoening |
| PTCH1patched 1 | Vaak (30–79%) | In 1 aandoening |
| PTH1Rparathyroid hormone 1 receptor | Vaak (30–79%) | In 1 aandoening |
| PYCR1pyrroline-5-carboxylate reductase 1 | Vaak (30–79%) | In 1 aandoening |
| RAP1BRAP1B, member of RAS oncogene family | Vaak (30–79%) | In 1 aandoening |
| RIC1RIC1 partner of RAB6A GEF complex | Vaak (30–79%) | In 1 aandoening |
| ROR2ROR family WNT receptor 2 | Vaak (30–79%) | In 2 aandoeningen |
| RREB1ras responsive element binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Vaak (30–79%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Vaak (30–79%) | In 1 aandoening |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Vaak (30–79%) | In 1 aandoening |
| TAF1TATA-box binding protein associated factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| TASP1taspase 1 | Vaak (30–79%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Vaak (30–79%) | In 1 aandoening |
| TET3tet methylcytosine dioxygenase 3 | Vaak (30–79%) | In 1 aandoening |
| THSD1thrombospondin type 1 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| TMEM147transmembrane protein 147 | Vaak (30–79%) | In 1 aandoening |
| TMEM94transmembrane protein 94 | Vaak (30–79%) | In 1 aandoening |
| TRIM8tripartite motif containing 8 | Vaak (30–79%) | In 1 aandoening |
| TUBBtubulin beta class I | Vaak (30–79%) | In 2 aandoeningen |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Vaak (30–79%) | In 1 aandoening |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Vaak (30–79%) | In 1 aandoening |
| WDR35WD repeat domain 35 | Vaak (30–79%) | In 1 aandoening |
| WNT5AWnt family member 5A | Vaak (30–79%) | In 2 aandoeningen |
| XYLT1xylosyltransferase 1 | Vaak (30–79%) | In 2 aandoeningen |
| ZFXzinc finger protein X-linked | Vaak (30–79%) | In 1 aandoening |
| ABCC8ATP binding cassette subfamily C member 8 | Soms (5–29%) | In 1 aandoening |
| ACTA1actin alpha 1, skeletal muscle | Soms (5–29%) | In 1 aandoening |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Soms (5–29%) | In 1 aandoening |
| ARID1AAT-rich interaction domain 1A | Soms (5–29%) | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Soms (5–29%) | In 2 aandoeningen |
| ARL6ARF like GTPase 6 | Soms (5–29%) | In 1 aandoening |
| ATXN7L3ataxin 7 like 3 | Soms (5–29%) | In 1 aandoening |
| B4GALT1beta-1,4-galactosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| BBIP1BBSome interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Soms (5–29%) | In 1 aandoening |
| BBS10Bardet-Biedl syndrome 10 | Soms (5–29%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Soms (5–29%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Soms (5–29%) | In 1 aandoening |
| BBS4Bardet-Biedl syndrome 4 | Soms (5–29%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Soms (5–29%) | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Soms (5–29%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Soms (5–29%) | In 1 aandoening |
| BRF1BRF1 general transcription factor IIIB subunit | Soms (5–29%) | In 1 aandoening |
| CDC42cell division cycle 42 | Soms (5–29%) | In 2 aandoeningen |
| CDH2cadherin 2 | Soms (5–29%) | In 1 aandoening |
| CEP19centrosomal protein 19 | Soms (5–29%) | In 1 aandoening |
| CEP290centrosomal protein 290 | Soms (5–29%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Soms (5–29%) | In 1 aandoening |
| CHRNGcholinergic receptor nicotinic gamma subunit | Soms (5–29%) | In 2 aandoeningen |
| CLCN3Cl-/H+ antiporter 3 | Soms (5–29%) | In 1 aandoening |
| COG3component of oligomeric golgi complex 3 | Soms (5–29%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Soms (5–29%) | In 1 aandoening |
| CTCFCCCTC-binding factor | Soms (5–29%) | In 2 aandoeningen |
| CTNNB1catenin beta 1 | Soms (5–29%) | In 2 aandoeningen |
| DLK1delta like non-canonical Notch ligand 1 | Soms (5–29%) | In 1 aandoening |
| DLL3delta like canonical Notch ligand 3 | Soms (5–29%) | In 1 aandoening |
| ERFETS2 repressor factor | Soms (5–29%) | In 1 aandoening |
| EXOC7exocyst complex component 7 | Soms (5–29%) | In 1 aandoening |
| EXTL3exostosin like glycosyltransferase 3 | Soms (5–29%) | In 1 aandoening |
| FBXL4F-box and leucine rich repeat protein 4 | Soms (5–29%) | In 1 aandoening |
| FBXO11F-box protein 11 | Soms (5–29%) | In 1 aandoening |
| FEM1Bfem-1 homolog B | Soms (5–29%) | In 1 aandoening |
| FILIP1filamin A interacting protein 1 | Soms (5–29%) | In 1 aandoening |
| FOXP2forkhead box P2 | Soms (5–29%) | In 1 aandoening |
| FRYLFRY like transcription coactivator | Soms (5–29%) | In 1 aandoening |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Soms (5–29%) | In 1 aandoening |
| GAD1glutamate decarboxylase 1 | Soms (5–29%) | In 1 aandoening |
| GLB1galactosidase beta 1 | Soms (5–29%) | In 1 aandoening |
| GTF3C3general transcription factor IIIC subunit 3 | Soms (5–29%) | In 1 aandoening |
| H3-3BH3.3 histone B | Soms (5–29%) | In 1 aandoening |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Soms (5–29%) | In 1 aandoening |
| HES7hes family bHLH transcription factor 7 | Soms (5–29%) | In 1 aandoening |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Soms (5–29%) | In 1 aandoening |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Soms (5–29%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Soms (5–29%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Soms (5–29%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Soms (5–29%) | In 1 aandoening |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Soms (5–29%) | In 1 aandoening |
| KDM4Blysine demethylase 4B | Soms (5–29%) | In 1 aandoening |
| KIAA0753KIAA0753 | Soms (5–29%) | In 1 aandoening |
| KIF11kinesin family member 11 | Soms (5–29%) | In 2 aandoeningen |
| KIF26Akinesin family member 26A | Soms (5–29%) | In 1 aandoening |
| KIF7kinesin family member 7 | Soms (5–29%) | In 1 aandoening |
| KITKIT proto-oncogene, receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| KLHL41kelch like family member 41 | Soms (5–29%) | In 1 aandoening |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Soms (5–29%) | In 1 aandoening |
| LMNB1lamin B1 | Soms (5–29%) | In 1 aandoening |
| LZTFL1leucine zipper transcription factor like 1 | Soms (5–29%) | In 1 aandoening |
| LZTR1leucine zipper like post translational regulator 1 | Soms (5–29%) | In 1 aandoening |
| MAB21L2mab-21 like 2 | Soms (5–29%) | In 1 aandoening |
| MADDMAP kinase activating death domain | Soms (5–29%) | In 1 aandoening |
| MAPK1mitogen-activated protein kinase 1 | Soms (5–29%) | In 1 aandoening |
| MAPRE2microtubule associated protein RP/EB family member 2 | Soms (5–29%) | In 1 aandoening |
| MARK2microtubule affinity regulating kinase 2 | Soms (5–29%) | In 1 aandoening |
| MEG3maternally expressed 3 | Soms (5–29%) | In 1 aandoening |
| MEGF8multiple EGF like domains 8 | Soms (5–29%) | In 1 aandoening |
| MEIS2Meis homeobox 2 | Soms (5–29%) | In 1 aandoening |
| MESP2mesoderm posterior bHLH transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Soms (5–29%) | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| MPC1mitochondrial pyruvate carrier 1 | Soms (5–29%) | In 1 aandoening |
| MTX2metaxin 2 | Soms (5–29%) | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Soms (5–29%) | In 1 aandoening |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Soms (5–29%) | In 1 aandoening |
| NEBnebulin | Soms (5–29%) | In 2 aandoeningen |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| NOTCH3notch receptor 3 | Soms (5–29%) | In 2 aandoeningen |
| NPHP1nephrocystin 1 | Soms (5–29%) | In 1 aandoening |
| NSRP1nuclear speckle splicing regulatory protein 1 | Soms (5–29%) | In 1 aandoening |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Soms (5–29%) | In 1 aandoening |
| PAHphenylalanine hydroxylase | Soms (5–29%) | In 1 aandoening |
| PCDHGC4protocadherin gamma subfamily C, 4 | Soms (5–29%) | In 1 aandoening |
| PDE4Dphosphodiesterase 4D | Soms (5–29%) | In 1 aandoening |
| PGM2L1phosphoglucomutase 2 like 1 | Soms (5–29%) | In 1 aandoening |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Soms (5–29%) | In 1 aandoening |
| PLPBPpyridoxal phosphate binding protein | Soms (5–29%) | In 1 aandoening |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Soms (5–29%) | In 1 aandoening |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Soms (5–29%) | In 1 aandoening |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Soms (5–29%) | In 1 aandoening |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Soms (5–29%) | In 1 aandoening |
| PTENphosphatase and tensin homolog | Soms (5–29%) | In 2 aandoeningen |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Soms (5–29%) | In 1 aandoening |
| PYCR2pyrroline-5-carboxylate reductase 2 | Soms (5–29%) | In 2 aandoeningen |
| RAI1retinoic acid induced 1 | Soms (5–29%) | In 1 aandoening |
| RFX7regulatory factor X7 | Soms (5–29%) | In 1 aandoening |
| RHOBTB2Rho related BTB domain containing 2 | Soms (5–29%) | In 1 aandoening |
| RIPPLY2ripply transcriptional repressor 2 | Soms (5–29%) | In 1 aandoening |
| RTL1retrotransposon Gag like 1 | Soms (5–29%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Soms (5–29%) | In 1 aandoening |
| SCLT1sodium channel and clathrin linker 1 | Soms (5–29%) | In 1 aandoening |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Soms (5–29%) | In 1 aandoening |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Soms (5–29%) | In 1 aandoening |
| SHMT2serine hydroxymethyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| SLC4A10solute carrier family 4 member 10 | Soms (5–29%) | In 1 aandoening |
| SLC9A7solute carrier family 9 member A7 | Soms (5–29%) | In 1 aandoening |
| SLF2SMC5/6 complex localization factor 2 | Soms (5–29%) | In 1 aandoening |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Soms (5–29%) | In 1 aandoening |
| SMG8SMG8 nonsense mediated mRNA decay factor | Soms (5–29%) | In 1 aandoening |
| SMOC1SPARC related modular calcium binding 1 | Soms (5–29%) | In 1 aandoening |
| SNAI2snail family transcriptional repressor 2 | Soms (5–29%) | In 1 aandoening |
| SOX9SRY-box transcription factor 9 | Soms (5–29%) | In 1 aandoening |
| SPRED2sprouty related EVH1 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Soms (5–29%) | In 1 aandoening |
| TAF6TATA-box binding protein associated factor 6 | Soms (5–29%) | In 1 aandoening |
| TBC1D20TBC1 domain family member 20 | Soms (5–29%) | In 1 aandoening |
| TBC1D32TBC1 domain family member 32 | Soms (5–29%) | In 1 aandoening |
| TBCKTBC1 domain containing kinase | Soms (5–29%) | In 2 aandoeningen |
| TBX6T-box transcription factor 6 | Soms (5–29%) | In 1 aandoening |
| TMEM53transmembrane protein 53 | Soms (5–29%) | In 1 aandoening |
| TPM3tropomyosin 3 | Soms (5–29%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Soms (5–29%) | In 1 aandoening |
| TRIOtrio Rho guanine nucleotide exchange factor | Soms (5–29%) | In 3 aandoeningen |
| TRIP12thyroid hormone receptor interactor 12 | Soms (5–29%) | In 1 aandoening |
| TRMT10AtRNA methyltransferase 10A | Soms (5–29%) | In 1 aandoening |
| TTC5tetratricopeptide repeat domain 5 | Soms (5–29%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Soms (5–29%) | In 1 aandoening |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Soms (5–29%) | In 1 aandoening |
| UGP2UDP-glucose pyrophosphorylase 2 | Soms (5–29%) | In 1 aandoening |
| USP9Xubiquitin specific peptidase 9 X-linked | Soms (5–29%) | In 2 aandoeningen |
| WDPCPWD repeat containing planar cell polarity effector | Soms (5–29%) | In 1 aandoening |
| XYLT2xylosyltransferase 2 | Soms (5–29%) | In 1 aandoening |
| ZNF699zinc finger protein 699 | Soms (5–29%) | In 1 aandoening |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Zelden (1–4%) | In 1 aandoening |
| CHD2chromodomain helicase DNA binding protein 2 | Zelden (1–4%) | In 1 aandoening |
| EPG5ectopic P-granules 5 autophagy tethering factor | Zelden (1–4%) | In 1 aandoening |
| FLNAfilamin A | Zelden (1–4%) | In 1 aandoening |
| GJA5gap junction protein alpha 5 | Zelden (1–4%) | In 1 aandoening |
| GJA8gap junction protein alpha 8 | Zelden (1–4%) | In 1 aandoening |
| H3-3AH3.3 histone A | Zelden (1–4%) | In 1 aandoening |
| NEXMIFneurite extension and migration factor | Zelden (1–4%) | In 1 aandoening |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Zelden (1–4%) | In 1 aandoening |
| PTBP1polypyrimidine tract binding protein 1 | Zelden (1–4%) | In 1 aandoening |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Zelden (1–4%) | In 1 aandoening |
| SLC2A1solute carrier family 2 member 1 | Zelden (1–4%) | In 1 aandoening |
| SLC6A1solute carrier family 6 member 1 | Zelden (1–4%) | In 1 aandoening |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Zelden (1–4%) | In 1 aandoening |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Niet vastgelegd | In 1 aandoening |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Niet vastgelegd | In 1 aandoening |
| ARXaristaless related homeobox | Niet vastgelegd | In 1 aandoening |
| ATN1atrophin 1 | Niet vastgelegd | In 1 aandoening |
| AVParginine vasopressin | Niet vastgelegd | In 1 aandoening |
| BRAT1BRCA1 associated ATM activator 1 | Niet vastgelegd | In 1 aandoening |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Niet vastgelegd | In 1 aandoening |
| C12orf57chromosome 12 open reading frame 57 | Niet vastgelegd | In 1 aandoening |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Niet vastgelegd | In 1 aandoening |
| CBLCbl proto-oncogene | Niet vastgelegd | In 1 aandoening |
| CDH11cadherin 11 | Niet vastgelegd | In 1 aandoening |
| CLTCclathrin heavy chain | Niet vastgelegd | In 1 aandoening |
| CRTAPcartilage associated protein | Niet vastgelegd | In 1 aandoening |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Niet vastgelegd | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Niet vastgelegd | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Niet vastgelegd | In 1 aandoening |
| GJA1gap junction protein alpha 1 | Niet vastgelegd | In 1 aandoening |
| GLIS3GLIS family zinc finger 3 | Niet vastgelegd | In 1 aandoening |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Niet vastgelegd | In 1 aandoening |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Niet vastgelegd | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Niet vastgelegd | In 1 aandoening |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Niet vastgelegd | In 1 aandoening |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Niet vastgelegd | In 1 aandoening |
| IGF1Rinsulin like growth factor 1 receptor | Niet vastgelegd | In 1 aandoening |
| INPPL1inositol polyphosphate phosphatase like 1 | Niet vastgelegd | In 1 aandoening |
| MOCS1molybdenum cofactor synthesis 1 | Niet vastgelegd | In 1 aandoening |
| MOCS2molybdenum cofactor synthesis 2 | Niet vastgelegd | In 1 aandoening |
| MUSKmuscle associated receptor tyrosine kinase | Niet vastgelegd | In 1 aandoening |
| NFIBnuclear factor I B | Niet vastgelegd | In 1 aandoening |
| NRASNRAS proto-oncogene, GTPase | Niet vastgelegd | In 1 aandoening |
| OCLNoccludin | Niet vastgelegd | In 1 aandoening |
| PCLOpiccolo presynaptic cytomatrix protein | Niet vastgelegd | In 1 aandoening |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Niet vastgelegd | In 1 aandoening |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Niet vastgelegd | In 1 aandoening |
| PORcytochrome p450 oxidoreductase | Niet vastgelegd | In 1 aandoening |
| SKIC3SKI3 subunit of superkiller complex | Niet vastgelegd | In 1 aandoening |
| SLC25A24solute carrier family 25 member 24 | Niet vastgelegd | In 1 aandoening |
| SLC2A10solute carrier family 2 member 10 | Niet vastgelegd | In 1 aandoening |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Niet vastgelegd | In 1 aandoening |
| SRCAPSnf2 related CREBBP activator protein | Niet vastgelegd | In 1 aandoening |
| STAG2STAG2 cohesin complex component | Niet vastgelegd | In 1 aandoening |
| TENM3teneurin transmembrane protein 3 | Niet vastgelegd | In 1 aandoening |
| TMEM70transmembrane protein 70 | Niet vastgelegd | In 1 aandoening |
| TNNI2troponin I2, fast skeletal type | Niet vastgelegd | In 1 aandoening |
| TNPO2transportin 2 | Niet vastgelegd | In 1 aandoening |
| TRAPPC4trafficking protein particle complex subunit 4 | Niet vastgelegd | In 1 aandoening |
| ZC4H2zinc finger C4H2-type containing | Niet vastgelegd | In 2 aandoeningen |
| ZMIZ1zinc finger MIZ-type containing 1 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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