Tunnus
Broad head shape
Kliiniline nimetus: Brachycephaly
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Kokkuvõte
- Teised nimetused
- Broad skull shape, Short and broad skull, Wide head shape, Wide skull shape
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Broad head shape, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test256 geeni on seotud tunnusega Broad head shape
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Broad head shape. 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 |
|---|---|---|
| ALX1ALX homeobox 1 | Alati | Esineb 1 haiguses |
| ALX4ALX homeobox 4 | Alati | Esineb 3 haiguses |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Alati | Esineb 2 haiguses |
| CCDC47coiled-coil domain containing 47 | Alati | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Alati | Esineb 1 haiguses |
| DHRS3dehydrogenase/reductase 3 | Alati | Esineb 1 haiguses |
| DRG1developmentally regulated GTP binding protein 1 | Alati | Esineb 1 haiguses |
| DSEdermatan sulfate epimerase | Alati | Esineb 1 haiguses |
| ERI1exoribonuclease 1 | Alati | Esineb 1 haiguses |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Alati | Esineb 1 haiguses |
| GET4guided entry of tail-anchored proteins factor 4 | Alati | Esineb 1 haiguses |
| GNB2G protein subunit beta 2 | Alati | Esineb 1 haiguses |
| GOLGA2golgin A2 | Alati | Esineb 1 haiguses |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Alati | Esineb 2 haiguses |
| GTPBP2GTP binding protein 2 | Alati | Esineb 1 haiguses |
| IKZF2IKAROS family zinc finger 2 | Alati | Esineb 1 haiguses |
| KDM6Blysine demethylase 6B | Alati | Esineb 1 haiguses |
| KIDINS220kinase D interacting substrate 220 | Alati | Esineb 1 haiguses |
| LIG4DNA ligase 4 | Alati | Esineb 2 haiguses |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Alati | Esineb 1 haiguses |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alati | Esineb 1 haiguses |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Alati | Esineb 3 haiguses |
| PRMT7protein arginine methyltransferase 7 | Alati | Esineb 1 haiguses |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Alati | Esineb 1 haiguses |
| PTRH2peptidyl-tRNA hydrolase 2 | Alati | Esineb 2 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alati | Esineb 3 haiguses |
| SLC25A24solute carrier family 25 member 24 | Alati | Esineb 2 haiguses |
| SMSspermine synthase | Alati | Esineb 2 haiguses |
| TAF8TATA-box binding protein associated factor 8 | Alati | Esineb 1 haiguses |
| TECPR2tectonin beta-propeller repeat containing 2 | Alati | Esineb 2 haiguses |
| TGFB3transforming growth factor beta 3 | Alati | Esineb 1 haiguses |
| TMCO1transmembrane and coiled-coil domains 1 | Alati | Esineb 2 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Alati | Esineb 1 haiguses |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alati | Esineb 1 haiguses |
| ADSLadenylosuccinate lyase | Väga sageli (80–99%) | Esineb 2 haiguses |
| B3GLCTbeta 3-glucosyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| BRD4bromodomain containing 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDH11cadherin 11 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CHD6chromodomain helicase DNA binding protein 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COL11A1collagen type XI alpha 1 chain | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 216 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| EFNB1ephrin B1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| EHMT1euchromatic histone lysine methyltransferase 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| EXT2exostosin glycosyltransferase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Väga sageli (80–99%) | Esineb 7 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Väga sageli (80–99%) | Esineb 6 haiguses |
| FUCA1alpha-L-fucosidase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HDAC8histone deacetylase 8 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IL11RAinterleukin 11 receptor subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| LRP5LDL receptor related protein 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MAU2MAU2 sister chromatid cohesion factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| NBASNBAS subunit of NRZ tethering complex | Väga sageli (80–99%) | Esineb 1 haiguses |
| NIPBLNIPBL cohesin loading factor | Väga sageli (80–99%) | Esineb 2 haiguses |
| PHF21APHD finger protein 21A | Väga sageli (80–99%) | Esineb 1 haiguses |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Väga sageli (80–99%) | Esineb 2 haiguses |
| RAD21RAD21 cohesin complex component | Väga sageli (80–99%) | Esineb 2 haiguses |
| RAI1retinoic acid induced 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RECQL4RecQ like helicase 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RNU12RNA, U12 small nuclear | Väga sageli (80–99%) | Esineb 2 haiguses |
| SMC1Astructural maintenance of chromosomes 1A | Väga sageli (80–99%) | Esineb 2 haiguses |
| SMC3structural maintenance of chromosomes 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TBCKTBC1 domain containing kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| TCF12transcription factor 12 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TRAPPC9trafficking protein particle complex subunit 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Väga sageli (80–99%) | Esineb 4 haiguses |
| UBE3Bubiquitin protein ligase E3B | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZIC1Zic family zinc finger 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| ZSWIM6zinc finger SWIM-type containing 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ADAMTSL1ADAMTS like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ANKRD11ankyrin repeat domain 11 | Sageli (30–79%) | Esineb 1 haiguses |
| AUTS2activator of transcription and developmental regulator AUTS2 | Sageli (30–79%) | Esineb 1 haiguses |
| BCL11ABCL11 transcription factor A | Sageli (30–79%) | Esineb 1 haiguses |
| BRPF1bromodomain and PHD finger containing 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CASZ1castor zinc finger 1 | Sageli (30–79%) | Esineb 1 haiguses |
| CTU2cytosolic thiouridylase subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| DDX3XDEAD-box helicase 3 X-linked | Sageli (30–79%) | Esineb 1 haiguses |
| FKTNfukutin | Sageli (30–79%) | Esineb 1 haiguses |
| FREM1FRAS1 related extracellular matrix 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sageli (30–79%) | Esineb 1 haiguses |
| HDAC4histone deacetylase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Sageli (30–79%) | Esineb 1 haiguses |
| HSPA9heat shock protein family A (Hsp70) member 9 | Sageli (30–79%) | Esineb 1 haiguses |
| HSPG2heparan sulfate proteoglycan 2 | Sageli (30–79%) | Esineb 1 haiguses |
| IRX5iroquois homeobox 5 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| KDM1Alysine demethylase 1A | Sageli (30–79%) | Esineb 1 haiguses |
| LUZP1leucine zipper protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MAFMAF bZIP transcription factor | Sageli (30–79%) | Esineb 2 haiguses |
| MBD5methyl-CpG binding domain protein 5 | Sageli (30–79%) | Esineb 2 haiguses |
| MMP14matrix metallopeptidase 14 | Sageli (30–79%) | Esineb 1 haiguses |
| MMP2matrix metallopeptidase 2 | Sageli (30–79%) | Esineb 2 haiguses |
| MMP23Bmatrix metallopeptidase 23B | Sageli (30–79%) | Esineb 1 haiguses |
| OTUD6BOTU deubiquitinase 6B | Sageli (30–79%) | Esineb 2 haiguses |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Sageli (30–79%) | Esineb 1 haiguses |
| PDE4Dphosphodiesterase 4D | Sageli (30–79%) | Esineb 2 haiguses |
| PDPNpodoplanin | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 2 haiguses |
| POLR2ARNA polymerase II subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| POLR3ARNA polymerase III subunit A | Sageli (30–79%) | Esineb 1 haiguses |
| PQBP1polyglutamine binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PRDM16PR/SET domain 16 | Sageli (30–79%) | Esineb 1 haiguses |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Sageli (30–79%) | Esineb 2 haiguses |
| PRKCZprotein kinase C zeta | Sageli (30–79%) | Esineb 1 haiguses |
| PRKD1protein kinase D1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RELREL proto-oncogene, NF-kB subunit | Sageli (30–79%) | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Sageli (30–79%) | Esineb 1 haiguses |
| SETD5SET domain containing 5 | Sageli (30–79%) | Esineb 2 haiguses |
| SH3PXD2BSH3 and PX domains 2B | Sageli (30–79%) | Esineb 1 haiguses |
| SKISKI proto-oncogene | Sageli (30–79%) | Esineb 1 haiguses |
| SPENspen family transcriptional repressor | Sageli (30–79%) | Esineb 1 haiguses |
| SPOPspeckle type BTB/POZ protein | Sageli (30–79%) | Esineb 1 haiguses |
| TBL1XR1TBL1X/Y related 1 | Sageli (30–79%) | Esineb 2 haiguses |
| TET3tet methylcytosine dioxygenase 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TUBBtubulin beta class I | Sageli (30–79%) | Esineb 1 haiguses |
| UBE4Bubiquitination factor E4B | Sageli (30–79%) | Esineb 1 haiguses |
| XPO1exportin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ZBTB20zinc finger and BTB domain containing 20 | Sageli (30–79%) | Esineb 1 haiguses |
| ADARB1adenosine deaminase RNA specific B1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| AHDC1AT-hook DNA binding motif containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Mõnikord (5–29%) | Esineb 3 haiguses |
| AMER1APC membrane recruitment protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ANKRD17ankyrin repeat domain 17 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARID1BAT-rich interaction domain 1B | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BAP1BRCA1 associated deubiquitinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CA2carbonic anhydrase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDK10cyclin dependent kinase 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CLCN3Cl-/H+ antiporter 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CNOT3CCR4-NOT transcription complex subunit 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CRELD1CRELD disulfide isomerase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTCFCCCTC-binding factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DEAF1DEAF1 transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| DOT1LDOT1 like histone lysine methyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPH1diphthamide biosynthesis 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPH2diphthamide biosynthesis 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DPYSL5dihydropyrimidinase like 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FBXO11F-box protein 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3BH3.3 histone B | Mõnikord (5–29%) | Esineb 1 haiguses |
| H4C5H4 clustered histone 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Mõnikord (5–29%) | Esineb 1 haiguses |
| IPO8importin 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KLHL20kelch like family member 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMX1BLIM homeobox transcription factor 1 beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| LRPPRCleucine rich pentatricopeptide repeat containing | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MECP2methyl-CpG binding protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MED13Lmediator complex subunit 13L | Mõnikord (5–29%) | Esineb 2 haiguses |
| MED16mediator complex subunit 16 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MEGF8multiple EGF like domains 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MESDmesoderm development LRP chaperone | Mõnikord (5–29%) | Esineb 1 haiguses |
| MSX2msh homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MTX2metaxin 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NALCNsodium leak channel, non-selective | Mõnikord (5–29%) | Esineb 2 haiguses |
| NEK1NIMA related kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| NOVA2NOVA alternative splicing regulator 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP2post-GPI attachment to proteins 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Mõnikord (5–29%) | Esineb 1 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Mõnikord (5–29%) | Esineb 2 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 |
| PORcytochrome p450 oxidoreductase | Mõnikord (5–29%) | Esineb 3 haiguses |
| PTCH1patched 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTCH2patched 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RFX7regulatory factor X7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Mõnikord (5–29%) | Esineb 2 haiguses |
| RNF216ring finger protein 216 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RUNX2RUNX family transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB1SATB homeobox 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SATB2SATB homeobox 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SETBP1SET binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC6A1solute carrier family 6 member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC6A11solute carrier family 6 member 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SMG9SMG9 nonsense mediated mRNA decay factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Mõnikord (5–29%) | Esineb 1 haiguses |
| STXBP1syntaxin binding protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SUFUSUFU negative regulator of hedgehog signaling | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBC1D20TBC1 domain family member 20 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBC1D24TBC1 domain family member 24 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX2T-box transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TCOF1treacle ribosome biogenesis factor 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TDP2tyrosyl-DNA phosphodiesterase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRIP12thyroid hormone receptor interactor 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC5tetratricopeptide repeat domain 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP7ubiquitin specific peptidase 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| USP9Xubiquitin specific peptidase 9 X-linked | Mõnikord (5–29%) | Esineb 2 haiguses |
| WDR26WD repeat domain 26 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZDHHC9zDHHC palmitoyltransferase 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZMYND11zinc finger MYND-type containing 11 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Harva (1–4%) | Esineb 1 haiguses |
| EBF3EBF transcription factor 3 | Harva (1–4%) | Esineb 1 haiguses |
| FOXF1forkhead box F1 | Harva (1–4%) | Esineb 1 haiguses |
| GBA1glucosylceramidase beta 1 | Harva (1–4%) | Esineb 1 haiguses |
| KMT2Clysine methyltransferase 2C | Harva (1–4%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Harva (1–4%) | Esineb 1 haiguses |
| ACOX1acyl-CoA oxidase 1 | Pole registreeritud | Esineb 1 haiguses |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Pole registreeritud | Esineb 1 haiguses |
| AGAaspartylglucosaminidase | Pole registreeritud | Esineb 1 haiguses |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Pole registreeritud | Esineb 1 haiguses |
| ATP7AATPase copper transporting alpha | Pole registreeritud | Esineb 1 haiguses |
| B3GAT3beta-1,3-glucuronyltransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| BMP4bone morphogenetic protein 4 | Pole registreeritud | Esineb 1 haiguses |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Pole registreeritud | Esineb 1 haiguses |
| CHST14carbohydrate sulfotransferase 14 | Pole registreeritud | Esineb 1 haiguses |
| CHST3carbohydrate sulfotransferase 3 | Pole registreeritud | Esineb 1 haiguses |
| CYP26B1cytochrome P450 family 26 subfamily B member 1 | Pole registreeritud | Esineb 1 haiguses |
| FAM20CFAM20C golgi associated secretory pathway kinase | Pole registreeritud | Esineb 1 haiguses |
| FBN1fibrillin 1 | Pole registreeritud | Esineb 1 haiguses |
| FBN2fibrillin 2 | Pole registreeritud | Esineb 1 haiguses |
| FKBP10FKBP prolyl isomerase 10 | Pole registreeritud | Esineb 1 haiguses |
| GJA1gap junction protein alpha 1 | Pole registreeritud | Esineb 1 haiguses |
| HCFC1host cell factor C1 | Pole registreeritud | Esineb 1 haiguses |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Pole registreeritud | Esineb 1 haiguses |
| INTUinturned planar cell polarity protein | Pole registreeritud | Esineb 1 haiguses |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Pole registreeritud | Esineb 1 haiguses |
| MGAT2alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Pole registreeritud | Esineb 1 haiguses |
| MN1MN1 proto-oncogene, transcriptional regulator | Pole registreeritud | Esineb 1 haiguses |
| NANSN-acetylneuraminate synthase | Pole registreeritud | Esineb 1 haiguses |
| NGLY1N-glycanase 1 | Pole registreeritud | Esineb 1 haiguses |
| PCGF2polycomb group ring finger 2 | Pole registreeritud | Esineb 1 haiguses |
| PCLOpiccolo presynaptic cytomatrix protein | Pole registreeritud | Esineb 1 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Pole registreeritud | Esineb 1 haiguses |
| PTH1Rparathyroid hormone 1 receptor | Pole registreeritud | Esineb 1 haiguses |
| RAB18RAB18, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Pole registreeritud | Esineb 1 haiguses |
| RAC3Rac family small GTPase 3 | Pole registreeritud | Esineb 1 haiguses |
| RBM8ARNA binding motif protein 8A | Pole registreeritud | Esineb 1 haiguses |
| SLC12A6solute carrier family 12 member 6 | Pole registreeritud | Esineb 1 haiguses |
| SRD5A3steroid 5 alpha-reductase 3 | Pole registreeritud | Esineb 1 haiguses |
| STAC3SH3 and cysteine rich domain 3 | Pole registreeritud | Esineb 1 haiguses |
| TAPT1transmembrane anterior posterior transformation 1 | Pole registreeritud | Esineb 1 haiguses |
| TCF20transcription factor 20 | Pole registreeritud | Esineb 1 haiguses |
| UBE3Aubiquitin protein ligase E3A | Pole registreeritud | Esineb 1 haiguses |
| UNC80unc-80 subunit of NALCN channel complex | Pole registreeritud | Esineb 1 haiguses |
| WACWW domain containing adaptor with coiled-coil | Pole registreeritud | Esineb 1 haiguses |
| WASHC5WASH complex subunit 5 | Pole registreeritud | Esineb 1 haiguses |
| ZC4H2zinc finger C4H2-type containing | 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.
Kitsamad tunnused
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.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast