Cecha
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.
Podsumowanie
- Znana także jako
- Elongated philtrum, Increased height of philtrum, Increased length of philtrum, Increased vertical dimension of philtrum, Vertical hyperplasia of philtrum
- Układ organizmu
- Abnormality of head or neck
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test460 genów powiązanych z Long philtrum
Zmiany w tych genach powodują rzadkie choroby, w których występuje Long philtrum. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ALPK3alpha kinase 3 | Zawsze | W 1 chorobie |
| ANKRD11ankyrin repeat domain 11 | Zawsze | W 3 chorobach |
| ANTXR1ANTXR cell adhesion molecule 1 | Zawsze | W 2 chorobach |
| AP3B1adaptor related protein complex 3 subunit beta 1 | Zawsze | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Zawsze | W 1 chorobie |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Zawsze | W 4 chorobach |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Zawsze | W 2 chorobach |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Zawsze | W 1 chorobie |
| BCORBCL6 corepressor | Zawsze | W 2 chorobach |
| BMP2bone morphogenetic protein 2 | Zawsze | W 2 chorobach |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Zawsze | W 2 chorobach |
| CDC6cell division cycle 6 | Zawsze | W 1 chorobie |
| CDK10cyclin dependent kinase 10 | Zawsze | W 1 chorobie |
| CEP295centrosomal protein 295 | Zawsze | W 1 chorobie |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Zawsze | W 1 chorobie |
| CHD8chromodomain helicase DNA binding protein 8 | Zawsze | W 1 chorobie |
| CHST14carbohydrate sulfotransferase 14 | Zawsze | W 2 chorobach |
| CHST3carbohydrate sulfotransferase 3 | Zawsze | W 3 chorobach |
| COL2A1collagen type II alpha 1 chain | Zawsze | W 3 chorobach |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Zawsze | W 1 chorobie |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Zawsze | W 1 chorobie |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Zawsze | W 1 chorobie |
| EXOSC1exosome component 1 | Zawsze | W 1 chorobie |
| EXOSC2exosome component 2 | Zawsze | W 1 chorobie |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Zawsze | W 2 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Zawsze | W 2 chorobach |
| GGCXgamma-glutamyl carboxylase | Zawsze | W 1 chorobie |
| IFT140intraflagellar transport 140 | Zawsze | W 1 chorobie |
| IRX5iroquois homeobox 5 | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KARS1lysyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Zawsze | W 3 chorobach |
| KDM6Blysine demethylase 6B | Zawsze | W 1 chorobie |
| KRASKRas proto-oncogene, GTPase | Zawsze | W 2 chorobach |
| LTBP4latent transforming growth factor beta binding protein 4 | Zawsze | W 1 chorobie |
| MAB21L1mab-21 like 1 | Zawsze | W 2 chorobach |
| MAP2K1mitogen-activated protein kinase kinase 1 | Zawsze | W 2 chorobach |
| MAP2K2mitogen-activated protein kinase kinase 2 | Zawsze | W 2 chorobach |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| MOCS3molybdenum cofactor synthesis 3 | Zawsze | W 1 chorobie |
Pokaż jeszcze 420 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| MRPS28mitochondrial ribosomal protein S28 | Zawsze | W 1 chorobie |
| MTORmechanistic target of rapamycin kinase | Zawsze | W 2 chorobach |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Zawsze | W 1 chorobie |
| MYH3myosin heavy chain 3 | Zawsze | W 3 chorobach |
| MYMXmyomixer, myoblast fusion factor | Zawsze | W 2 chorobach |
| NALCNsodium leak channel, non-selective | Zawsze | W 3 chorobach |
| NBNnibrin | Zawsze | W 1 chorobie |
| NLRP1NLR family pyrin domain containing 1 | Zawsze | W 1 chorobie |
| NOTCH2notch receptor 2 | Zawsze | W 2 chorobach |
| NSD2nuclear receptor binding SET domain protein 2 | Zawsze | W 1 chorobie |
| NXNnucleoredoxin | Zawsze | W 2 chorobach |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Zawsze | W 1 chorobie |
| PEX26peroxisomal biogenesis factor 26 | Zawsze | W 1 chorobie |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Zawsze | W 1 chorobie |
| PKDCCprotein kinase domain containing, cytoplasmic | Zawsze | W 1 chorobie |
| POC1APOC1 centriolar protein A | Zawsze | W 1 chorobie |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Zawsze | W 1 chorobie |
| PRMT7protein arginine methyltransferase 7 | Zawsze | W 2 chorobach |
| PUF60poly(U) binding splicing factor 60 | Zawsze | W 3 chorobach |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Zawsze | W 1 chorobie |
| RAC3Rac family small GTPase 3 | Zawsze | W 1 chorobie |
| RIN2Ras and Rab interactor 2 | Zawsze | W 2 chorobach |
| RNU2-2RNA, U2 small nuclear 2 | Zawsze | W 1 chorobie |
| RNU4ATACRNA, U4atac small nuclear | Zawsze | W 2 chorobach |
| RPL10ribosomal protein L10 | Zawsze | W 2 chorobach |
| SATB2SATB homeobox 2 | Zawsze | W 4 chorobach |
| SC5Dsterol-C5-desaturase | Zawsze | W 2 chorobach |
| SCAF4SR-related CTD associated factor 4 | Zawsze | W 1 chorobie |
| SEC23ASEC23 homolog A, COPII component | Zawsze | W 2 chorobach |
| SETD5SET domain containing 5 | Zawsze | W 2 chorobach |
| SIN3ASIN3 transcription regulator family member A | Zawsze | W 2 chorobach |
| SLC6A17solute carrier family 6 member 17 | Zawsze | W 2 chorobach |
| SPOUT1SPOUT domain containing methyltransferase 1 | Zawsze | W 1 chorobie |
| TAF8TATA-box binding protein associated factor 8 | Zawsze | W 1 chorobie |
| TBCEtubulin folding cofactor E | Zawsze | W 2 chorobach |
| TBX5T-box transcription factor 5 | Zawsze | W 1 chorobie |
| TOR1Atorsin family 1 member A | Zawsze | W 1 chorobie |
| TRPS1transcriptional repressor GATA binding 1 | Zawsze | W 4 chorobach |
| UBAP2Lubiquitin associated protein 2 like | Zawsze | W 1 chorobie |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Zawsze | W 1 chorobie |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| WWOXWW domain containing oxidoreductase | Zawsze | W 1 chorobie |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Zawsze | W 1 chorobie |
| ABCC9ATP binding cassette subfamily C member 9 | Bardzo często (80–99%) | W 2 chorobach |
| ACTBactin beta | Bardzo często (80–99%) | W 2 chorobach |
| ACTG1actin gamma 1 | Bardzo często (80–99%) | W 2 chorobach |
| ADAMTSL2ADAMTS like 2 | Bardzo często (80–99%) | W 2 chorobach |
| ADSLadenylosuccinate lyase | Bardzo często (80–99%) | W 2 chorobach |
| ATP6V1AATPase H+ transporting V1 subunit A | Bardzo często (80–99%) | W 1 chorobie |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Bardzo często (80–99%) | W 1 chorobie |
| B3GLCTbeta 3-glucosyltransferase | Bardzo często (80–99%) | W 2 chorobach |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Bardzo często (80–99%) | W 1 chorobie |
| BCL11ABCL11 transcription factor A | Bardzo często (80–99%) | W 1 chorobie |
| BRD4bromodomain containing 4 | Bardzo często (80–99%) | W 2 chorobach |
| BRPF1bromodomain and PHD finger containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Bardzo często (80–99%) | W 1 chorobie |
| CASZ1castor zinc finger 1 | Bardzo często (80–99%) | W 1 chorobie |
| CD96CD96 molecule | Bardzo często (80–99%) | W 1 chorobie |
| CLCF1cardiotrophin like cytokine factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| CLIP2CAP-Gly domain containing linker protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| COL11A1collagen type XI alpha 1 chain | Bardzo często (80–99%) | W 3 chorobach |
| COL11A2collagen type XI alpha 2 chain | Bardzo często (80–99%) | W 1 chorobie |
| CRLF1cytokine receptor like factor 1 | Bardzo często (80–99%) | W 2 chorobach |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Bardzo często (80–99%) | W 1 chorobie |
| DSEdermatan sulfate epimerase | Bardzo często (80–99%) | W 2 chorobach |
| DVL1dishevelled segment polarity protein 1 | Bardzo często (80–99%) | W 3 chorobach |
| EIF4Heukaryotic translation initiation factor 4H | Bardzo często (80–99%) | W 1 chorobie |
| ELNelastin | Bardzo często (80–99%) | W 3 chorobach |
| EXT1exostosin glycosyltransferase 1 | Bardzo często (80–99%) | W 1 chorobie |
| FBN1fibrillin 1 | Bardzo często (80–99%) | W 4 chorobach |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Bardzo często (80–99%) | W 2 chorobach |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Bardzo często (80–99%) | W 1 chorobie |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Bardzo często (80–99%) | W 1 chorobie |
| GPC6glypican 6 | Bardzo często (80–99%) | W 2 chorobach |
| GTF2Igeneral transcription factor IIi | Bardzo często (80–99%) | W 1 chorobie |
| GTF2IRD1GTF2I repeat domain containing 1 | Bardzo często (80–99%) | W 1 chorobie |
| GTF2IRD2GTF2I repeat domain containing 2 | Bardzo często (80–99%) | W 1 chorobie |
| HDAC8histone deacetylase 8 | Bardzo często (80–99%) | W 2 chorobach |
| HSPG2heparan sulfate proteoglycan 2 | Bardzo często (80–99%) | W 2 chorobach |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Bardzo często (80–99%) | W 1 chorobie |
| LIMK1LIM domain kinase 1 | Bardzo często (80–99%) | W 1 chorobie |
| LTBP1latent transforming growth factor beta binding protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| LTBP3latent transforming growth factor beta binding protein 3 | Bardzo często (80–99%) | W 3 chorobach |
| LUZP1leucine zipper protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Bardzo często (80–99%) | W 1 chorobie |
| MAU2MAU2 sister chromatid cohesion factor | Bardzo często (80–99%) | W 2 chorobach |
| METTL27methyltransferase like 27 | Bardzo często (80–99%) | W 1 chorobie |
| MID1midline 1 | Bardzo często (80–99%) | W 1 chorobie |
| MMP23Bmatrix metallopeptidase 23B | Bardzo często (80–99%) | W 1 chorobie |
| MYMKmyomaker, myoblast fusion factor | Bardzo często (80–99%) | W 1 chorobie |
| NBASNBAS subunit of NRZ tethering complex | Bardzo często (80–99%) | W 1 chorobie |
| NCF1neutrophil cytosolic factor 1 | Bardzo często (80–99%) | W 1 chorobie |
| NIPBLNIPBL cohesin loading factor | Bardzo często (80–99%) | W 2 chorobach |
| NSD1nuclear receptor binding SET domain protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| PDPNpodoplanin | Bardzo często (80–99%) | W 1 chorobie |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Bardzo często (80–99%) | W 2 chorobach |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Bardzo często (80–99%) | W 2 chorobach |
| PRDM16PR/SET domain 16 | Bardzo często (80–99%) | W 1 chorobie |
| PRKCZprotein kinase C zeta | Bardzo często (80–99%) | W 1 chorobie |
| PUS1pseudouridine synthase 1 | Bardzo często (80–99%) | W 1 chorobie |
| RAD21RAD21 cohesin complex component | Bardzo często (80–99%) | W 3 chorobach |
| RELREL proto-oncogene, NF-kB subunit | Bardzo często (80–99%) | W 1 chorobie |
| REREarginine-glutamic acid dipeptide repeats | Bardzo często (80–99%) | W 1 chorobie |
| RFC2replication factor C subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| RNF135ring finger protein 135 | Bardzo często (80–99%) | W 1 chorobie |
| SKISKI proto-oncogene | Bardzo często (80–99%) | W 1 chorobie |
| SLC26A2solute carrier family 26 member 2 | Bardzo często (80–99%) | W 2 chorobach |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Bardzo często (80–99%) | W 2 chorobach |
| SMC1Astructural maintenance of chromosomes 1A | Bardzo często (80–99%) | W 1 chorobie |
| SMC3structural maintenance of chromosomes 3 | Bardzo często (80–99%) | W 2 chorobach |
| SNX14sorting nexin 14 | Bardzo często (80–99%) | W 2 chorobach |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Bardzo często (80–99%) | W 2 chorobach |
| SPENspen family transcriptional repressor | Bardzo często (80–99%) | W 2 chorobach |
| STX1Asyntaxin 1A | Bardzo często (80–99%) | W 1 chorobie |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Bardzo często (80–99%) | W 1 chorobie |
| TBC1D24TBC1 domain family member 24 | Bardzo często (80–99%) | W 2 chorobach |
| TBL2transducin beta like 2 | Bardzo często (80–99%) | W 1 chorobie |
| TMEM270transmembrane protein 270 | Bardzo często (80–99%) | W 1 chorobie |
| TRIP11thyroid hormone receptor interactor 11 | Bardzo często (80–99%) | W 2 chorobach |
| UBE4Bubiquitination factor E4B | Bardzo często (80–99%) | W 1 chorobie |
| VPS37DVPS37D subunit of ESCRT-I | Bardzo często (80–99%) | W 1 chorobie |
| XPO1exportin 1 | Bardzo często (80–99%) | W 1 chorobie |
| YARS2tyrosyl-tRNA synthetase 2 | Bardzo często (80–99%) | W 1 chorobie |
| AARS1alanyl-tRNA synthetase 1 | Często (30–79%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Często (30–79%) | W 1 chorobie |
| AFF4ALF transcription elongation factor 4 | Często (30–79%) | W 2 chorobach |
| AHDC1AT-hook DNA binding motif containing 1 | Często (30–79%) | W 1 chorobie |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Często (30–79%) | W 1 chorobie |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Często (30–79%) | W 1 chorobie |
| APCAPC regulator of Wnt signaling pathway | Często (30–79%) | W 1 chorobie |
| ARSKarylsulfatase family member K | Często (30–79%) | W 1 chorobie |
| ARVCFARVCF delta catenin family member | Często (30–79%) | W 1 chorobie |
| ATP7AATPase copper transporting alpha | Często (30–79%) | W 2 chorobach |
| B3GALT6beta-1,3-galactosyltransferase 6 | Często (30–79%) | W 2 chorobach |
| BAP1BRCA1 associated deubiquitinase 1 | Często (30–79%) | W 1 chorobie |
| BCL11BBCL11 transcription factor B | Często (30–79%) | W 1 chorobie |
| BMP1bone morphogenetic protein 1 | Często (30–79%) | W 1 chorobie |
| BRCC3BRCA1/BRCA2-containing complex subunit 3 | Często (30–79%) | W 1 chorobie |
| CAMTA1calmodulin binding transcription activator 1 | Często (30–79%) | W 2 chorobach |
| CANT1calcium activated nucleotidase 1 | Często (30–79%) | W 1 chorobie |
| CASKcalcium/calmodulin dependent serine protein kinase | Często (30–79%) | W 2 chorobach |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Często (30–79%) | W 2 chorobach |
| CCNKcyclin K | Często (30–79%) | W 1 chorobie |
| CLCN6Cl-/H+ antiporter 6 | Często (30–79%) | W 1 chorobie |
| COG1component of oligomeric golgi complex 1 | Często (30–79%) | W 2 chorobach |
| COMTcatechol-O-methyltransferase | Często (30–79%) | W 1 chorobie |
| CPLX1complexin 1 | Często (30–79%) | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Często (30–79%) | W 1 chorobie |
| CUL7cullin 7 | Często (30–79%) | W 2 chorobach |
| DBR1debranching RNA lariats 1 | Często (30–79%) | W 1 chorobie |
| DDR2discoidin domain receptor tyrosine kinase 2 | Często (30–79%) | W 1 chorobie |
| DHCR77-dehydrocholesterol reductase | Często (30–79%) | W 2 chorobach |
| DVL3dishevelled segment polarity protein 3 | Często (30–79%) | W 2 chorobach |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Często (30–79%) | W 1 chorobie |
| DYNC2I1dynein 2 intermediate chain 1 | Często (30–79%) | W 1 chorobie |
| DYNC2I2dynein 2 intermediate chain 2 | Często (30–79%) | W 1 chorobie |
| EMILIN1elastin microfibril interfacer 1 | Często (30–79%) | W 1 chorobie |
| EXOC2exocyst complex component 2 | Często (30–79%) | W 1 chorobie |
| EXT2exostosin glycosyltransferase 2 | Często (30–79%) | W 1 chorobie |
| FAR1fatty acyl-CoA reductase 1 | Często (30–79%) | W 2 chorobach |
| FGF3fibroblast growth factor 3 | Często (30–79%) | W 1 chorobie |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Często (30–79%) | W 1 chorobie |
| FZD2frizzled class receptor 2 | Często (30–79%) | W 3 chorobach |
| GON4Lgon-4 like | Często (30–79%) | W 1 chorobie |
| GP1BBglycoprotein Ib platelet subunit beta | Często (30–79%) | W 1 chorobie |
| HIRAhistone cell cycle regulator | Często (30–79%) | W 1 chorobie |
| HMBShydroxymethylbilane synthase | Często (30–79%) | W 1 chorobie |
| HSD17B4hydroxysteroid 17-beta dehydrogenase 4 | Często (30–79%) | W 1 chorobie |
| IFT80intraflagellar transport 80 | Często (30–79%) | W 1 chorobie |
| IFT81intraflagellar transport 81 | Często (30–79%) | W 1 chorobie |
| INTS1integrator complex subunit 1 | Często (30–79%) | W 1 chorobie |
| JMJD1Cjumonji domain containing 1C | Często (30–79%) | W 1 chorobie |
| KAT6Blysine acetyltransferase 6B | Często (30–79%) | W 1 chorobie |
| KMT2Alysine methyltransferase 2A | Często (30–79%) | W 2 chorobach |
| MAFMAF bZIP transcription factor | Często (30–79%) | W 2 chorobach |
| MED12mediator complex subunit 12 | Często (30–79%) | W 3 chorobach |
| METTL23methyltransferase 23, arginine | Często (30–79%) | W 1 chorobie |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Często (30–79%) | W 1 chorobie |
| MLXIPLMLX interacting protein like | Często (30–79%) | W 1 chorobie |
| MYO18Bmyosin XVIIIB | Często (30–79%) | W 1 chorobie |
| MYOD1myogenic differentiation 1 | Często (30–79%) | W 1 chorobie |
| NEK9NIMA related kinase 9 | Często (30–79%) | W 1 chorobie |
| NOS3nitric oxide synthase 3 | Często (30–79%) | W 1 chorobie |
| OBSL1obscurin like cytoskeletal adaptor 1 | Często (30–79%) | W 2 chorobach |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Często (30–79%) | W 1 chorobie |
| OTUD6BOTU deubiquitinase 6B | Często (30–79%) | W 2 chorobach |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Często (30–79%) | W 2 chorobach |
| PLAAphospholipase A2 activating protein | Często (30–79%) | W 2 chorobach |
| PMM2phosphomannomutase 2 | Często (30–79%) | W 1 chorobie |
| POLR3ARNA polymerase III subunit A | Często (30–79%) | W 1 chorobie |
| POU4F1POU class 4 homeobox 1 | Często (30–79%) | W 1 chorobie |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Często (30–79%) | W 1 chorobie |
| PTCH1patched 1 | Często (30–79%) | W 1 chorobie |
| PTH1Rparathyroid hormone 1 receptor | Często (30–79%) | W 1 chorobie |
| PYCR1pyrroline-5-carboxylate reductase 1 | Często (30–79%) | W 1 chorobie |
| RAP1BRAP1B, member of RAS oncogene family | Często (30–79%) | W 1 chorobie |
| RIC1RIC1 partner of RAB6A GEF complex | Często (30–79%) | W 1 chorobie |
| ROR2ROR family WNT receptor 2 | Często (30–79%) | W 2 chorobach |
| RREB1ras responsive element binding protein 1 | Często (30–79%) | W 1 chorobie |
| SEC24CSEC24 homolog C, COPII component | Często (30–79%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Często (30–79%) | W 1 chorobie |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Często (30–79%) | W 1 chorobie |
| TAF1TATA-box binding protein associated factor 1 | Często (30–79%) | W 2 chorobach |
| TASP1taspase 1 | Często (30–79%) | W 1 chorobie |
| TBX1T-box transcription factor 1 | Często (30–79%) | W 1 chorobie |
| TET3tet methylcytosine dioxygenase 3 | Często (30–79%) | W 1 chorobie |
| THSD1thrombospondin type 1 domain containing 1 | Często (30–79%) | W 1 chorobie |
| TMEM147transmembrane protein 147 | Często (30–79%) | W 1 chorobie |
| TMEM94transmembrane protein 94 | Często (30–79%) | W 1 chorobie |
| TRIM8tripartite motif containing 8 | Często (30–79%) | W 1 chorobie |
| TUBBtubulin beta class I | Często (30–79%) | W 2 chorobach |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Często (30–79%) | W 1 chorobie |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Często (30–79%) | W 1 chorobie |
| WDR35WD repeat domain 35 | Często (30–79%) | W 1 chorobie |
| WNT5AWnt family member 5A | Często (30–79%) | W 2 chorobach |
| XYLT1xylosyltransferase 1 | Często (30–79%) | W 2 chorobach |
| ZFXzinc finger protein X-linked | Często (30–79%) | W 1 chorobie |
| ABCC8ATP binding cassette subfamily C member 8 | Czasami (5–29%) | W 1 chorobie |
| ACTA1actin alpha 1, skeletal muscle | Czasami (5–29%) | W 1 chorobie |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Czasami (5–29%) | W 1 chorobie |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Czasami (5–29%) | W 1 chorobie |
| ARID1AAT-rich interaction domain 1A | Czasami (5–29%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Czasami (5–29%) | W 2 chorobach |
| ARL6ARF like GTPase 6 | Czasami (5–29%) | W 1 chorobie |
| ATXN7L3ataxin 7 like 3 | Czasami (5–29%) | W 1 chorobie |
| B4GALT1beta-1,4-galactosyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| BBIP1BBSome interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| BBS1Bardet-Biedl syndrome 1 | Czasami (5–29%) | W 1 chorobie |
| BBS10Bardet-Biedl syndrome 10 | Czasami (5–29%) | W 1 chorobie |
| BBS12Bardet-Biedl syndrome 12 | Czasami (5–29%) | W 1 chorobie |
| BBS2Bardet-Biedl syndrome 2 | Czasami (5–29%) | W 1 chorobie |
| BBS4Bardet-Biedl syndrome 4 | Czasami (5–29%) | W 1 chorobie |
| BBS5Bardet-Biedl syndrome 5 | Czasami (5–29%) | W 1 chorobie |
| BBS7Bardet-Biedl syndrome 7 | Czasami (5–29%) | W 1 chorobie |
| BBS9Bardet-Biedl syndrome 9 | Czasami (5–29%) | W 1 chorobie |
| BRF1BRF1 general transcription factor IIIB subunit | Czasami (5–29%) | W 1 chorobie |
| CDC42cell division cycle 42 | Czasami (5–29%) | W 2 chorobach |
| CDH2cadherin 2 | Czasami (5–29%) | W 1 chorobie |
| CEP19centrosomal protein 19 | Czasami (5–29%) | W 1 chorobie |
| CEP290centrosomal protein 290 | Czasami (5–29%) | W 1 chorobie |
| CFAP418cilia and flagella associated protein 418 | Czasami (5–29%) | W 1 chorobie |
| CHRNGcholinergic receptor nicotinic gamma subunit | Czasami (5–29%) | W 2 chorobach |
| CLCN3Cl-/H+ antiporter 3 | Czasami (5–29%) | W 1 chorobie |
| COG3component of oligomeric golgi complex 3 | Czasami (5–29%) | W 1 chorobie |
| COX7Bcytochrome c oxidase subunit 7B | Czasami (5–29%) | W 1 chorobie |
| CTCFCCCTC-binding factor | Czasami (5–29%) | W 2 chorobach |
| CTNNB1catenin beta 1 | Czasami (5–29%) | W 2 chorobach |
| DLK1delta like non-canonical Notch ligand 1 | Czasami (5–29%) | W 1 chorobie |
| DLL3delta like canonical Notch ligand 3 | Czasami (5–29%) | W 1 chorobie |
| ERFETS2 repressor factor | Czasami (5–29%) | W 1 chorobie |
| EXOC7exocyst complex component 7 | Czasami (5–29%) | W 1 chorobie |
| EXTL3exostosin like glycosyltransferase 3 | Czasami (5–29%) | W 1 chorobie |
| FBXL4F-box and leucine rich repeat protein 4 | Czasami (5–29%) | W 1 chorobie |
| FBXO11F-box protein 11 | Czasami (5–29%) | W 1 chorobie |
| FEM1Bfem-1 homolog B | Czasami (5–29%) | W 1 chorobie |
| FILIP1filamin A interacting protein 1 | Czasami (5–29%) | W 1 chorobie |
| FOXP2forkhead box P2 | Czasami (5–29%) | W 1 chorobie |
| FRYLFRY like transcription coactivator | Czasami (5–29%) | W 1 chorobie |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Czasami (5–29%) | W 1 chorobie |
| GAD1glutamate decarboxylase 1 | Czasami (5–29%) | W 1 chorobie |
| GLB1galactosidase beta 1 | Czasami (5–29%) | W 1 chorobie |
| GTF3C3general transcription factor IIIC subunit 3 | Czasami (5–29%) | W 1 chorobie |
| H3-3BH3.3 histone B | Czasami (5–29%) | W 1 chorobie |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Czasami (5–29%) | W 1 chorobie |
| HES7hes family bHLH transcription factor 7 | Czasami (5–29%) | W 1 chorobie |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Czasami (5–29%) | W 1 chorobie |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Czasami (5–29%) | W 1 chorobie |
| IFT172intraflagellar transport 172 | Czasami (5–29%) | W 1 chorobie |
| IFT27intraflagellar transport 27 | Czasami (5–29%) | W 1 chorobie |
| IFT74intraflagellar transport 74 | Czasami (5–29%) | W 1 chorobie |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Czasami (5–29%) | W 1 chorobie |
| KDM4Blysine demethylase 4B | Czasami (5–29%) | W 1 chorobie |
| KIAA0753KIAA0753 | Czasami (5–29%) | W 1 chorobie |
| KIF11kinesin family member 11 | Czasami (5–29%) | W 2 chorobach |
| KIF26Akinesin family member 26A | Czasami (5–29%) | W 1 chorobie |
| KIF7kinesin family member 7 | Czasami (5–29%) | W 1 chorobie |
| KITKIT proto-oncogene, receptor tyrosine kinase | Czasami (5–29%) | W 1 chorobie |
| KLHL41kelch like family member 41 | Czasami (5–29%) | W 1 chorobie |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Czasami (5–29%) | W 1 chorobie |
| LMNB1lamin B1 | Czasami (5–29%) | W 1 chorobie |
| LZTFL1leucine zipper transcription factor like 1 | Czasami (5–29%) | W 1 chorobie |
| LZTR1leucine zipper like post translational regulator 1 | Czasami (5–29%) | W 1 chorobie |
| MAB21L2mab-21 like 2 | Czasami (5–29%) | W 1 chorobie |
| MADDMAP kinase activating death domain | Czasami (5–29%) | W 1 chorobie |
| MAPK1mitogen-activated protein kinase 1 | Czasami (5–29%) | W 1 chorobie |
| MAPRE2microtubule associated protein RP/EB family member 2 | Czasami (5–29%) | W 1 chorobie |
| MARK2microtubule affinity regulating kinase 2 | Czasami (5–29%) | W 1 chorobie |
| MEG3maternally expressed 3 | Czasami (5–29%) | W 1 chorobie |
| MEGF8multiple EGF like domains 8 | Czasami (5–29%) | W 1 chorobie |
| MEIS2Meis homeobox 2 | Czasami (5–29%) | W 1 chorobie |
| MESP2mesoderm posterior bHLH transcription factor 2 | Czasami (5–29%) | W 1 chorobie |
| MKKSMKKS centrosomal shuttling protein | Czasami (5–29%) | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Czasami (5–29%) | W 1 chorobie |
| MPC1mitochondrial pyruvate carrier 1 | Czasami (5–29%) | W 1 chorobie |
| MTX2metaxin 2 | Czasami (5–29%) | W 1 chorobie |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| NEBnebulin | Czasami (5–29%) | W 2 chorobach |
| NF1neurofibromin 1 | Czasami (5–29%) | W 1 chorobie |
| NOTCH3notch receptor 3 | Czasami (5–29%) | W 2 chorobach |
| NPHP1nephrocystin 1 | Czasami (5–29%) | W 1 chorobie |
| NSRP1nuclear speckle splicing regulatory protein 1 | Czasami (5–29%) | W 1 chorobie |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Czasami (5–29%) | W 1 chorobie |
| PAHphenylalanine hydroxylase | Czasami (5–29%) | W 1 chorobie |
| PCDHGC4protocadherin gamma subfamily C, 4 | Czasami (5–29%) | W 1 chorobie |
| PDE4Dphosphodiesterase 4D | Czasami (5–29%) | W 1 chorobie |
| PGM2L1phosphoglucomutase 2 like 1 | Czasami (5–29%) | W 1 chorobie |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Czasami (5–29%) | W 1 chorobie |
| PLPBPpyridoxal phosphate binding protein | Czasami (5–29%) | W 1 chorobie |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Czasami (5–29%) | W 1 chorobie |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Czasami (5–29%) | W 1 chorobie |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Czasami (5–29%) | W 1 chorobie |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Czasami (5–29%) | W 1 chorobie |
| PTENphosphatase and tensin homolog | Czasami (5–29%) | W 2 chorobach |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Czasami (5–29%) | W 1 chorobie |
| PYCR2pyrroline-5-carboxylate reductase 2 | Czasami (5–29%) | W 2 chorobach |
| RAI1retinoic acid induced 1 | Czasami (5–29%) | W 1 chorobie |
| RFX7regulatory factor X7 | Czasami (5–29%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| RIPPLY2ripply transcriptional repressor 2 | Czasami (5–29%) | W 1 chorobie |
| RTL1retrotransposon Gag like 1 | Czasami (5–29%) | W 1 chorobie |
| SCAPERS-phase cyclin A associated protein in the ER | Czasami (5–29%) | W 1 chorobie |
| SCLT1sodium channel and clathrin linker 1 | Czasami (5–29%) | W 1 chorobie |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Czasami (5–29%) | W 1 chorobie |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Czasami (5–29%) | W 1 chorobie |
| SHMT2serine hydroxymethyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| SLC4A10solute carrier family 4 member 10 | Czasami (5–29%) | W 1 chorobie |
| SLC9A7solute carrier family 9 member A7 | Czasami (5–29%) | W 1 chorobie |
| SLF2SMC5/6 complex localization factor 2 | Czasami (5–29%) | W 1 chorobie |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Czasami (5–29%) | W 1 chorobie |
| SMG8SMG8 nonsense mediated mRNA decay factor | Czasami (5–29%) | W 1 chorobie |
| SMOC1SPARC related modular calcium binding 1 | Czasami (5–29%) | W 1 chorobie |
| SNAI2snail family transcriptional repressor 2 | Czasami (5–29%) | W 1 chorobie |
| SOX9SRY-box transcription factor 9 | Czasami (5–29%) | W 1 chorobie |
| SPRED2sprouty related EVH1 domain containing 2 | Czasami (5–29%) | W 1 chorobie |
| SYNE1spectrin repeat containing nuclear envelope protein 1 | Czasami (5–29%) | W 1 chorobie |
| TAF6TATA-box binding protein associated factor 6 | Czasami (5–29%) | W 1 chorobie |
| TBC1D20TBC1 domain family member 20 | Czasami (5–29%) | W 1 chorobie |
| TBC1D32TBC1 domain family member 32 | Czasami (5–29%) | W 1 chorobie |
| TBCKTBC1 domain containing kinase | Czasami (5–29%) | W 2 chorobach |
| TBX6T-box transcription factor 6 | Czasami (5–29%) | W 1 chorobie |
| TMEM53transmembrane protein 53 | Czasami (5–29%) | W 1 chorobie |
| TPM3tropomyosin 3 | Czasami (5–29%) | W 1 chorobie |
| TRIM32tripartite motif containing 32 | Czasami (5–29%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Czasami (5–29%) | W 3 chorobach |
| TRIP12thyroid hormone receptor interactor 12 | Czasami (5–29%) | W 1 chorobie |
| TRMT10AtRNA methyltransferase 10A | Czasami (5–29%) | W 1 chorobie |
| TTC5tetratricopeptide repeat domain 5 | Czasami (5–29%) | W 1 chorobie |
| TTC8tetratricopeptide repeat domain 8 | Czasami (5–29%) | W 1 chorobie |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Czasami (5–29%) | W 1 chorobie |
| UGP2UDP-glucose pyrophosphorylase 2 | Czasami (5–29%) | W 1 chorobie |
| USP9Xubiquitin specific peptidase 9 X-linked | Czasami (5–29%) | W 2 chorobach |
| WDPCPWD repeat containing planar cell polarity effector | Czasami (5–29%) | W 1 chorobie |
| XYLT2xylosyltransferase 2 | Czasami (5–29%) | W 1 chorobie |
| ZNF699zinc finger protein 699 | Czasami (5–29%) | W 1 chorobie |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Rzadko (1–4%) | W 1 chorobie |
| CHD2chromodomain helicase DNA binding protein 2 | Rzadko (1–4%) | W 1 chorobie |
| EPG5ectopic P-granules 5 autophagy tethering factor | Rzadko (1–4%) | W 1 chorobie |
| FLNAfilamin A | Rzadko (1–4%) | W 1 chorobie |
| GJA5gap junction protein alpha 5 | Rzadko (1–4%) | W 1 chorobie |
| GJA8gap junction protein alpha 8 | Rzadko (1–4%) | W 1 chorobie |
| H3-3AH3.3 histone A | Rzadko (1–4%) | W 1 chorobie |
| NEXMIFneurite extension and migration factor | Rzadko (1–4%) | W 1 chorobie |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Rzadko (1–4%) | W 1 chorobie |
| PTBP1polypyrimidine tract binding protein 1 | Rzadko (1–4%) | W 1 chorobie |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Rzadko (1–4%) | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Rzadko (1–4%) | W 1 chorobie |
| SLC6A1solute carrier family 6 member 1 | Rzadko (1–4%) | W 1 chorobie |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Rzadko (1–4%) | W 1 chorobie |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Nie odnotowano | W 1 chorobie |
| ARHGEF2Rho/Rac guanine nucleotide exchange factor 2 | Nie odnotowano | W 1 chorobie |
| ARXaristaless related homeobox | Nie odnotowano | W 1 chorobie |
| ATN1atrophin 1 | Nie odnotowano | W 1 chorobie |
| AVParginine vasopressin | Nie odnotowano | W 1 chorobie |
| BRAT1BRCA1 associated ATM activator 1 | Nie odnotowano | W 1 chorobie |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Nie odnotowano | W 1 chorobie |
| C12orf57chromosome 12 open reading frame 57 | Nie odnotowano | W 1 chorobie |
| CAMK2Gcalcium/calmodulin dependent protein kinase II gamma | Nie odnotowano | W 1 chorobie |
| CBLCbl proto-oncogene | Nie odnotowano | W 1 chorobie |
| CDH11cadherin 11 | Nie odnotowano | W 1 chorobie |
| CLTCclathrin heavy chain | Nie odnotowano | W 1 chorobie |
| CRTAPcartilage associated protein | Nie odnotowano | W 1 chorobie |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Nie odnotowano | W 1 chorobie |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Nie odnotowano | W 1 chorobie |
| FGFR2fibroblast growth factor receptor 2 | Nie odnotowano | W 1 chorobie |
| GJA1gap junction protein alpha 1 | Nie odnotowano | W 1 chorobie |
| GLIS3GLIS family zinc finger 3 | Nie odnotowano | W 1 chorobie |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Nie odnotowano | W 1 chorobie |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Nie odnotowano | W 1 chorobie |
| HRASHRas proto-oncogene, GTPase | Nie odnotowano | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Nie odnotowano | W 1 chorobie |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| IGF1Rinsulin like growth factor 1 receptor | Nie odnotowano | W 1 chorobie |
| INPPL1inositol polyphosphate phosphatase like 1 | Nie odnotowano | W 1 chorobie |
| MOCS1molybdenum cofactor synthesis 1 | Nie odnotowano | W 1 chorobie |
| MOCS2molybdenum cofactor synthesis 2 | Nie odnotowano | W 1 chorobie |
| MUSKmuscle associated receptor tyrosine kinase | Nie odnotowano | W 1 chorobie |
| NFIBnuclear factor I B | Nie odnotowano | W 1 chorobie |
| NRASNRAS proto-oncogene, GTPase | Nie odnotowano | W 1 chorobie |
| OCLNoccludin | Nie odnotowano | W 1 chorobie |
| PCLOpiccolo presynaptic cytomatrix protein | Nie odnotowano | W 1 chorobie |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Nie odnotowano | W 1 chorobie |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nie odnotowano | W 1 chorobie |
| PORcytochrome p450 oxidoreductase | Nie odnotowano | W 1 chorobie |
| SKIC3SKI3 subunit of superkiller complex | Nie odnotowano | W 1 chorobie |
| SLC25A24solute carrier family 25 member 24 | Nie odnotowano | W 1 chorobie |
| SLC2A10solute carrier family 2 member 10 | Nie odnotowano | W 1 chorobie |
| SNRPBsmall nuclear ribonucleoprotein polypeptides B and B1 | Nie odnotowano | W 1 chorobie |
| SRCAPSnf2 related CREBBP activator protein | Nie odnotowano | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Nie odnotowano | W 1 chorobie |
| TENM3teneurin transmembrane protein 3 | Nie odnotowano | W 1 chorobie |
| TMEM70transmembrane protein 70 | Nie odnotowano | W 1 chorobie |
| TNNI2troponin I2, fast skeletal type | Nie odnotowano | W 1 chorobie |
| TNPO2transportin 2 | Nie odnotowano | W 1 chorobie |
| TRAPPC4trafficking protein particle complex subunit 4 | Nie odnotowano | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | Nie odnotowano | W 2 chorobach |
| ZMIZ1zinc finger MIZ-type containing 1 | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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