Tunnus
Broad thumb
Increased thumb width without increased dorso-ventral dimension.
Kokkuvõte
- Teised nimetused
- Broad thumbs, Wide/broad thumb, Broad phalanges of the thumb, Wide/broad thumb phalanges
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Broad thumb, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test93 geeni on seotud tunnusega Broad thumb
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Broad thumb. 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 |
|---|---|---|
| ACANaggrecan | Alati | Esineb 2 haiguses |
| DNM1Ldynamin 1L | Alati | Esineb 1 haiguses |
| EXOSC2exosome component 2 | Alati | Esineb 1 haiguses |
| FLNAfilamin A | Alati | Esineb 3 haiguses |
| GLI3GLI family zinc finger 3 | Alati | Esineb 4 haiguses |
| HYAL2hyaluronidase 2 | Alati | Esineb 1 haiguses |
| MED12mediator complex subunit 12 | Alati | Esineb 2 haiguses |
| MIR140microRNA 140 | Alati | Esineb 1 haiguses |
| NXNnucleoredoxin | Alati | Esineb 2 haiguses |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Alati | Esineb 1 haiguses |
| REREarginine-glutamic acid dipeptide repeats | Alati | Esineb 1 haiguses |
| SLC13A1solute carrier family 13 member 1 | Alati | Esineb 1 haiguses |
| SNIP1Smad nuclear interacting protein 1 | Alati | Esineb 1 haiguses |
| CREBBPCREB binding lysine acetyltransferase | Väga sageli (80–99%) | Esineb 3 haiguses |
| EP300EP300 lysine acetyltransferase | Väga sageli (80–99%) | Esineb 3 haiguses |
| FGFR1fibroblast growth factor receptor 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| FGFR2fibroblast growth factor receptor 2 | Väga sageli (80–99%) | Esineb 7 haiguses |
| FLNBfilamin B | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPC4glypican 4 | Väga sageli (80–99%) | Esineb 3 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NOGnoggin | Väga sageli (80–99%) | Esineb 2 haiguses |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Väga sageli (80–99%) | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| EZH2enhancer of zeste 2 polycomb repressive complex 2 subunit | Sageli (30–79%) | Esineb 2 haiguses |
| FGF9fibroblast growth factor 9 | Sageli (30–79%) | Esineb 2 haiguses |
| FGFR3fibroblast growth factor receptor 3 | Sageli (30–79%) | Esineb 2 haiguses |
| GDF5growth differentiation factor 5 | Sageli (30–79%) | Esineb 1 haiguses |
| GDF6growth differentiation factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| GPC3glypican 3 | Sageli (30–79%) | Esineb 2 haiguses |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Sageli (30–79%) | Esineb 1 haiguses |
| HPGD15-hydroxyprostaglandin dehydrogenase | Sageli (30–79%) | Esineb 1 haiguses |
| MEGF8multiple EGF like domains 8 | Sageli (30–79%) | Esineb 2 haiguses |
| NSD1nuclear receptor binding SET domain protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Sageli (30–79%) | Esineb 1 haiguses |
| OTUD6BOTU deubiquitinase 6B | Sageli (30–79%) | Esineb 2 haiguses |
| PRKD1protein kinase D1 | Sageli (30–79%) | Esineb 1 haiguses |
| PRKG2protein kinase cGMP-dependent 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RAB23RAB23, member RAS oncogene family | Sageli (30–79%) | Esineb 1 haiguses |
| RBM8ARNA binding motif protein 8A | Sageli (30–79%) | Esineb 2 haiguses |
Näita veel 53 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ROR2ROR family WNT receptor 2 | Sageli (30–79%) | Esineb 3 haiguses |
| SALL1spalt like transcription factor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SATB2SATB homeobox 2 | Sageli (30–79%) | Esineb 3 haiguses |
| SIAH1siah E3 ubiquitin protein ligase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SMOsmoothened, frizzled class receptor | Sageli (30–79%) | Esineb 2 haiguses |
| SRCAPSnf2 related CREBBP activator protein | Sageli (30–79%) | Esineb 1 haiguses |
| SUMF1sulfatase modifying factor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SUZ12SUZ12 polycomb repressive complex 2 subunit | Sageli (30–79%) | Esineb 1 haiguses |
| TWIST1twist family bHLH transcription factor 1 | Sageli (30–79%) | Esineb 2 haiguses |
| USP9Xubiquitin specific peptidase 9 X-linked | Sageli (30–79%) | Esineb 1 haiguses |
| XYLT1xylosyltransferase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ZNF668zinc finger protein 668 | Sageli (30–79%) | Esineb 1 haiguses |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMP2bone morphogenetic protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BMPR1Abone morphogenetic protein receptor type 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| BORCS8BLOC-1 related complex subunit 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| BPTFbromodomain PHD finger transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| CBFBcore-binding factor subunit beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| DACT1dishevelled binding antagonist of beta catenin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DHX30DExH-box helicase 30 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DVL3dishevelled segment polarity protein 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GATA4GATA binding protein 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| H3-3AH3.3 histone A | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT56intraflagellar transport 56 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INPPL1inositol polyphosphate phosphatase like 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCTD1potassium channel tetramerization domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| LMBR1limb development membrane protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAN2C1mannosidase alpha class 2C member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PACS1phosphofurin acidic cluster sorting protein 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PCDHGC4protocadherin gamma subfamily C, 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Mõnikord (5–29%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Mõnikord (5–29%) | Esineb 1 haiguses |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Mõnikord (5–29%) | Esineb 2 haiguses |
| PUF60poly(U) binding splicing factor 60 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PYCR2pyrroline-5-carboxylate reductase 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU5B-1RNA, U5B small nuclear 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 |
| SMOC1SPARC related modular calcium binding 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TBX5T-box transcription factor 5 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ADNPactivity dependent neuroprotector homeobox | Harva (1–4%) | Esineb 1 haiguses |
| ALX4ALX homeobox 4 | Harva (1–4%) | Esineb 1 haiguses |
| GJA5gap junction protein alpha 5 | Harva (1–4%) | Esineb 1 haiguses |
| GJA8gap junction protein alpha 8 | Harva (1–4%) | Esineb 1 haiguses |
| MSX2msh homeobox 2 | Harva (1–4%) | Esineb 1 haiguses |
| COL2A1collagen type II alpha 1 chain | Pole registreeritud | Esineb 1 haiguses |
| EEDembryonic ectoderm development | Pole registreeritud | Esineb 1 haiguses |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Pole registreeritud | Esineb 1 haiguses |
| MEIS2Meis homeobox 2 | Pole registreeritud | Esineb 1 haiguses |
| RLIMring finger protein, LIM domain interacting | Pole registreeritud | Esineb 1 haiguses |
| WNT5AWnt family member 5A | 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