Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Tunnus
Wide mouth
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
Kokkuvõte
- Teised nimetused
- Broad mouth, Large mouth, Large oral aperture, Macrostomia
- Kehasüsteem
- Abnormality of head or neck
Wide mouthHP:0000154
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Read the genes linked to Wide mouth, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test236 geeni on seotud tunnusega Wide mouth
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Wide mouth. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| AHDC1AT-hook DNA binding motif containing 1 | Alati | Esineb 1 haiguses |
| ARID1AAT-rich interaction domain 1A | Alati | Esineb 2 haiguses |
| ARID2AT-rich interaction domain 2 | Alati | Esineb 2 haiguses |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Alati | Esineb 2 haiguses |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Alati | Esineb 1 haiguses |
| AUTS2activator of transcription and developmental regulator AUTS2 | Alati | Esineb 1 haiguses |
| CDK19cyclin dependent kinase 19 | Alati | Esineb 1 haiguses |
| CRNKL1crooked neck pre-mRNA splicing factor 1 | Alati | Esineb 1 haiguses |
| DDX11DEAD/H-box helicase 11 | Alati | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Alati | Esineb 1 haiguses |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Alati | Esineb 1 haiguses |
| H4C11H4 clustered histone 11 | Alati | Esineb 1 haiguses |
| H4C3H4 clustered histone 3 | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 1 haiguses |
| INTS11integrator complex subunit 11 | Alati | Esineb 1 haiguses |
| IRX5iroquois homeobox 5 | Alati | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Alati | Esineb 4 haiguses |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| KIF15kinesin family member 15 | Alati | Esineb 1 haiguses |
| KLHL15kelch like family member 15 | Alati | Esineb 1 haiguses |
| KMT2Blysine methyltransferase 2B | Alati | Esineb 1 haiguses |
| LARP7La ribonucleoprotein 7, transcriptional regulator | Alati | Esineb 2 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Alati | Esineb 1 haiguses |
| MBD5methyl-CpG binding domain protein 5 | Alati | Esineb 1 haiguses |
| MED16mediator complex subunit 16 | Alati | Esineb 1 haiguses |
| MTORmechanistic target of rapamycin kinase | Alati | Esineb 2 haiguses |
| MYT1Lmyelin transcription factor 1 like | Alati | Esineb 1 haiguses |
| NAV3neuron navigator 3 | Alati | Esineb 1 haiguses |
| NONOnon-POU domain containing octamer binding | Alati | Esineb 2 haiguses |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alati | Esineb 1 haiguses |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Alati | Esineb 1 haiguses |
| PPFIA3PPFI scaffold protein A3 | Alati | Esineb 1 haiguses |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alati | Esineb 1 haiguses |
| RNF113Aring finger protein 113A | Alati | Esineb 1 haiguses |
| SEC23ASEC23 homolog A, COPII component | Alati | Esineb 2 haiguses |
| SH3PXD2BSH3 and PX domains 2B | Alati | Esineb 2 haiguses |
| SLC12A2solute carrier family 12 member 2 | Alati | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Alati | Esineb 2 haiguses |
| SNIP1Smad nuclear interacting protein 1 | Alati | Esineb 1 haiguses |
Näita veel 196 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| SOX4SRY-box transcription factor 4 | Alati | Esineb 2 haiguses |
| STRADASTE20 related adaptor alpha | Alati | Esineb 2 haiguses |
| TCF4transcription factor 4 | Alati | Esineb 2 haiguses |
| TOP2BDNA topoisomerase II beta | Alati | Esineb 1 haiguses |
| TRA2Btransformer 2 beta homolog | Alati | Esineb 1 haiguses |
| TWIST2twist family bHLH transcription factor 2 | Alati | Esineb 4 haiguses |
| WLSWnt ligand secretion mediator | Alati | Esineb 1 haiguses |
| ABCC9ATP binding cassette subfamily C member 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACTBactin beta | Väga sageli (80–99%) | Esineb 3 haiguses |
| ACTG1actin gamma 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ARID1BAT-rich interaction domain 1B | Väga sageli (80–99%) | Esineb 2 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CUL4Bcullin 4B | Väga sageli (80–99%) | Esineb 2 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DPF2double PHD fingers 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Väga sageli (80–99%) | Esineb 1 haiguses |
| ELNelastin | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPC3glypican 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GPC4glypican 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LIMK1LIM domain kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NXNnucleoredoxin | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| QRICH1glutamine rich 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RFC2replication factor C subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SOX11SRY-box transcription factor 11 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Väga sageli (80–99%) | Esineb 3 haiguses |
| SSR4signal sequence receptor subunit 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| STX1Asyntaxin 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
| TBL2transducin beta like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMCO1transmembrane and coiled-coil domains 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UBE2Aubiquitin conjugating enzyme E2 A | Väga sageli (80–99%) | Esineb 2 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Väga sageli (80–99%) | Esineb 1 haiguses |
| ACTL6Bactin like 6B | Sageli (30–79%) | Esineb 1 haiguses |
| AFF3ALF transcription elongation factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| ANKRD11ankyrin repeat domain 11 | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sageli (30–79%) | Esineb 1 haiguses |
| CCDC47coiled-coil domain containing 47 | Sageli (30–79%) | Esineb 1 haiguses |
| DHCR77-dehydrocholesterol reductase | Sageli (30–79%) | Esineb 1 haiguses |
| DYMdymeclin | Sageli (30–79%) | Esineb 1 haiguses |
| ERLIN2ER lipid raft associated 2 | Sageli (30–79%) | Esineb 2 haiguses |
| EXOSC5exosome component 5 | Sageli (30–79%) | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Sageli (30–79%) | Esineb 1 haiguses |
| GATAD2BGATA zinc finger domain containing 2B | Sageli (30–79%) | Esineb 2 haiguses |
| GNSglucosamine (N-acetyl)-6-sulfatase | Sageli (30–79%) | Esineb 1 haiguses |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KAT5lysine acetyltransferase 5 | Sageli (30–79%) | Esineb 1 haiguses |
| KAT6Alysine acetyltransferase 6A | Sageli (30–79%) | Esineb 1 haiguses |
| KCNK4potassium two pore domain channel subfamily K member 4 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM3Blysine demethylase 3B | Sageli (30–79%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Sageli (30–79%) | Esineb 2 haiguses |
| MED13Lmediator complex subunit 13L | Sageli (30–79%) | Esineb 2 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OCA2OCA2 melanosomal transmembrane protein | Sageli (30–79%) | Esineb 1 haiguses |
| PACS2phosphofurin acidic cluster sorting protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PGAP2post-GPI attachment to proteins 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sageli (30–79%) | Esineb 2 haiguses |
| PMM2phosphomannomutase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 1 haiguses |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Sageli (30–79%) | Esineb 1 haiguses |
| PTDSS1phosphatidylserine synthase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RNF2ring finger protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU12RNA, U12 small nuclear | Sageli (30–79%) | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Sageli (30–79%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SF3B4splicing factor 3b subunit 4 | Sageli (30–79%) | Esineb 2 haiguses |
| STAG1STAG1 cohesin complex component | Sageli (30–79%) | Esineb 2 haiguses |
| TASP1taspase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM147transmembrane protein 147 | Sageli (30–79%) | Esineb 1 haiguses |
| TMEM70transmembrane protein 70 | Sageli (30–79%) | Esineb 1 haiguses |
| TRIP12thyroid hormone receptor interactor 12 | Sageli (30–79%) | Esineb 1 haiguses |
| UBE3Aubiquitin protein ligase E3A | Sageli (30–79%) | Esineb 5 haiguses |
| UBE3Bubiquitin protein ligase E3B | Sageli (30–79%) | Esineb 1 haiguses |
| WDR26WD repeat domain 26 | Sageli (30–79%) | Esineb 1 haiguses |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Sageli (30–79%) | Esineb 1 haiguses |
| ADAT3adenosine deaminase tRNA specific 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 2 haiguses |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| ATP10AATPase phospholipid transporting 10A (putative) | Mõnikord (5–29%) | Esineb 1 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDC42cell division cycle 42 | Mõnikord (5–29%) | Esineb 2 haiguses |
| CDC42BPBCDC42 binding protein kinase beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNTNAP2contactin associated protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DACT1dishevelled binding antagonist of beta catenin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DDB1damage specific DNA binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYDdihydropyrimidine dehydrogenase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYSL5dihydropyrimidinase like 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM20CFAM20C golgi associated secretory pathway kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FOXP2forkhead box P2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HDAC6histone deacetylase 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HECTD4HECT domain E3 ubiquitin protein ligase 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HIVEP2HIVEP zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IDUAalpha-L-iduronidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| KATNB1katanin regulatory subunit B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LZTR1leucine zipper like post translational regulator 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAPK1mitogen-activated protein kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MIPEPmitochondrial intermediate peptidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PACS1phosphofurin acidic cluster sorting protein 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Mõnikord (5–29%) | Esineb 2 haiguses |
| PIGUphosphatidylinositol glycan anchor biosynthesis class U | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLA1DNA polymerase alpha 1, catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1BRNA polymerase I subunit B | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1CRNA polymerase I and III subunit C | Mõnikord (5–29%) | Esineb 1 haiguses |
| POLR1DRNA polymerase I and III subunit D | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSPHphosphoserine phosphatase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAI1retinoic acid induced 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNF125ring finger protein 125 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SALL1spalt like transcription factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETSET nuclear proto-oncogene | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Mõnikord (5–29%) | Esineb 2 haiguses |
| SPENspen family transcriptional repressor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPRED2sprouty related EVH1 domain containing 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TCOF1treacle ribosome biogenesis factor 1 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TRIOtrio Rho guanine nucleotide exchange factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TSHZ3teashirt zinc finger homeobox 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| WACWW domain containing adaptor with coiled-coil | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZMYND11zinc finger MYND-type containing 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF148zinc finger protein 148 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF526zinc finger protein 526 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZNF699zinc finger protein 699 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZSWIM6zinc finger SWIM-type containing 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Harva (1–4%) | Esineb 1 haiguses |
| CHD2chromodomain helicase DNA binding protein 2 | Harva (1–4%) | Esineb 1 haiguses |
| H3-3AH3.3 histone A | Harva (1–4%) | Esineb 1 haiguses |
| KIF7kinesin family member 7 | Harva (1–4%) | Esineb 1 haiguses |
| NEXMIFneurite extension and migration factor | Harva (1–4%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Harva (1–4%) | Esineb 1 haiguses |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC2A1solute carrier family 2 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| SLC6A1solute carrier family 6 member 1 | Harva (1–4%) | Esineb 1 haiguses |
| ADAMTSL2ADAMTS like 2 | Pole registreeritud | Esineb 1 haiguses |
| ADSLadenylosuccinate lyase | Pole registreeritud | Esineb 1 haiguses |
| AGAaspartylglucosaminidase | Pole registreeritud | Esineb 1 haiguses |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Pole registreeritud | Esineb 1 haiguses |
| ASXL3ASXL transcriptional regulator 3 | Pole registreeritud | Esineb 1 haiguses |
| ATRXATRX chromatin remodeler | Pole registreeritud | Esineb 1 haiguses |
| CD96CD96 molecule | Pole registreeritud | Esineb 1 haiguses |
| CENPFcentromere protein F | Pole registreeritud | Esineb 1 haiguses |
| FLCNfolliculin | Pole registreeritud | Esineb 1 haiguses |
| GALNSgalactosamine (N-acetyl)-6-sulfatase | Pole registreeritud | Esineb 1 haiguses |
| GLB1galactosidase beta 1 | Pole registreeritud | Esineb 1 haiguses |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Pole registreeritud | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Pole registreeritud | Esineb 1 haiguses |
| INSRinsulin receptor | Pole registreeritud | Esineb 1 haiguses |
| MAP2K1mitogen-activated protein kinase kinase 1 | Pole registreeritud | Esineb 1 haiguses |
| MED13mediator complex subunit 13 | Pole registreeritud | Esineb 1 haiguses |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Pole registreeritud | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Pole registreeritud | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Pole registreeritud | Esineb 1 haiguses |
| NRXN1neurexin 1 | Pole registreeritud | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Pole registreeritud | Esineb 1 haiguses |
| SF3B2splicing factor 3b subunit 2 | Pole registreeritud | Esineb 1 haiguses |
| SKIC3SKI3 subunit of superkiller complex | Pole registreeritud | Esineb 1 haiguses |
| TALDO1transaldolase 1 | Pole registreeritud | Esineb 1 haiguses |
| THUMPD1THUMP domain 1 NAT10 acetyltransferase adaptor | Pole registreeritud | Esineb 1 haiguses |
| TMEM67transmembrane protein 67 | Pole registreeritud | Esineb 1 haiguses |
| TRRAPtransformation/transcription domain associated protein | Pole registreeritud | Esineb 1 haiguses |
| WDR73WD repeat domain 73 | Pole registreeritud | Esineb 1 haiguses |
| ZMIZ1zinc finger MIZ-type containing 1 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Kellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiAlustaalates 449 $
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast