Požymis
Short penis
Klinikinis pavadinimas: Micropenis
Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.
Santrauka
- Taip pat vadinama
- Small penis
- Kūno sistema
- Abnormality of the genitourinary system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Short penis, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test297 genų susiję su Short penis
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Short penis. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ALG12ALG12 alpha-1,6-mannosyltransferase | Visada | 2 ligose |
| ANOS1anosmin 1 | Visada | 3 ligose |
| AXLAXL receptor tyrosine kinase | Visada | 1 ligoje |
| B9D2B9 domain containing 2 | Visada | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Visada | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Visada | 1 ligoje |
| C2CD3C2 domain containing 3 centriole elongation regulator | Visada | 1 ligoje |
| CCDC141coiled-coil domain containing 141 | Visada | 2 ligose |
| CDC6cell division cycle 6 | Visada | 1 ligoje |
| CENPTcentromere protein T | Visada | 1 ligoje |
| CHD4chromodomain helicase DNA binding protein 4 | Visada | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Visada | 5 ligose |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Visada | 2 ligose |
| DNA2DNA replication helicase/nuclease 2 | Visada | 1 ligoje |
| DONSONDNA replication fork stabilization factor DONSON | Visada | 1 ligoje |
| DUSP6dual specificity phosphatase 6 | Visada | 3 ligose |
| DVL1dishevelled segment polarity protein 1 | Visada | 2 ligose |
| DVL3dishevelled segment polarity protein 3 | Visada | 1 ligoje |
| EBF3EBF transcription factor 3 | Visada | 1 ligoje |
| ECE1endothelin converting enzyme 1 | Visada | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Visada | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Visada | 1 ligoje |
| FANCLFA complementation group L | Visada | 1 ligoje |
| FAT4FAT atypical cadherin 4 | Visada | 1 ligoje |
| FEZF1FEZ family zinc finger 1 | Visada | 3 ligose |
| FGF17fibroblast growth factor 17 | Visada | 3 ligose |
| FGF8fibroblast growth factor 8 | Visada | 4 ligose |
| FGFR1fibroblast growth factor receptor 1 | Visada | 5 ligose |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Visada | 2 ligose |
| GH1growth hormone 1 | Visada | 1 ligoje |
| GNRH1gonadotropin releasing hormone 1 | Visada | 3 ligose |
| GNRHRgonadotropin releasing hormone receptor | Visada | 2 ligose |
| H4C9H4 clustered histone 9 | Visada | 1 ligoje |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Visada | 4 ligose |
| HYAL2hyaluronidase 2 | Visada | 1 ligoje |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Visada | 1 ligoje |
| INTUinturned planar cell polarity protein | Visada | 2 ligose |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KISS1KiSS-1 metastasis suppressor | Visada | 2 ligose |
| KISS1RKISS1 receptor | Visada | 3 ligose |
Rodyti dar 257 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| KLHL15kelch like family member 15 | Visada | 1 ligoje |
| LAMA5laminin subunit alpha 5 | Visada | 1 ligoje |
| LIG4DNA ligase 4 | Visada | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Visada | 1 ligoje |
| NDNFneuron derived neurotrophic factor | Visada | 2 ligose |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Visada | 3 ligose |
| OTX2orthodenticle homeobox 2 | Visada | 1 ligoje |
| PRDM13PR/SET domain 13 | Visada | 1 ligoje |
| PROK2prokineticin 2 | Visada | 4 ligose |
| PROKR2prokineticin receptor 2 | Visada | 4 ligose |
| PSMC1proteasome 26S subunit, ATPase 1 | Visada | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Visada | 2 ligose |
| RIPK4receptor interacting serine/threonine kinase 4 | Visada | 1 ligoje |
| RNF113Aring finger protein 113A | Visada | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Visada | 2 ligose |
| SEMA3Asemaphorin 3A | Visada | 3 ligose |
| SEMA3Esemaphorin 3E | Visada | 2 ligose |
| SGSM3small G protein signaling modulator 3 | Visada | 1 ligoje |
| SLC30A7solute carrier family 30 member 7 | Visada | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Visada | 2 ligose |
| SPRY4sprouty RTK signaling antagonist 4 | Visada | 3 ligose |
| SRA1steroid receptor RNA activator 1 | Visada | 1 ligoje |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Visada | 2 ligose |
| TAC3tachykinin precursor 3 | Visada | 2 ligose |
| TACR3tachykinin receptor 3 | Visada | 4 ligose |
| TBC1D20TBC1 domain family member 20 | Visada | 1 ligoje |
| TBC1D32TBC1 domain family member 32 | Visada | 1 ligoje |
| TBX3T-box transcription factor 3 | Visada | 1 ligoje |
| TOP2BDNA topoisomerase II beta | Visada | 1 ligoje |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Visada | 1 ligoje |
| WDR11WD repeat domain 11 | Visada | 3 ligose |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Visada | 1 ligoje |
| ZPR1ZPR1 zinc finger | Visada | 1 ligoje |
| CDH11cadherin 11 | Labai dažnai (80–99%) | 1 ligoje |
| CYB5Acytochrome b5 type A | Labai dažnai (80–99%) | 2 ligose |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Labai dažnai (80–99%) | 2 ligose |
| DCAF17DDB1 and CUL4 associated factor 17 | Labai dažnai (80–99%) | 2 ligose |
| DCCDCC netrin 1 receptor | Labai dažnai (80–99%) | 1 ligoje |
| DHX37DEAH-box helicase 37 | Labai dažnai (80–99%) | 1 ligoje |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Labai dažnai (80–99%) | 2 ligose |
| EMX2empty spiracles homeobox 2 | Labai dažnai (80–99%) | 2 ligose |
| GATA4GATA binding protein 4 | Labai dažnai (80–99%) | 1 ligoje |
| HESX1HESX homeobox 1 | Labai dažnai (80–99%) | 1 ligoje |
| IL17RDinterleukin 17 receptor D | Labai dažnai (80–99%) | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Labai dažnai (80–99%) | 2 ligose |
| MADDMAP kinase activating death domain | Labai dažnai (80–99%) | 2 ligose |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| NHLH2nescient helix-loop-helix 2 | Labai dažnai (80–99%) | 1 ligoje |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Labai dažnai (80–99%) | 1 ligoje |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Labai dažnai (80–99%) | 2 ligose |
| PNPLA6patatin like domain 6, lysophospholipase | Labai dažnai (80–99%) | 3 ligose |
| SOX9SRY-box transcription factor 9 | Labai dažnai (80–99%) | 3 ligose |
| SRYsex determining region Y | Labai dažnai (80–99%) | 2 ligose |
| TCF12transcription factor 12 | Labai dažnai (80–99%) | 1 ligoje |
| UBE2Aubiquitin conjugating enzyme E2 A | Labai dažnai (80–99%) | 2 ligose |
| VAMP7vesicle associated membrane protein 7 | Labai dažnai (80–99%) | 1 ligoje |
| WT1WT1 transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| WWOXWW domain containing oxidoreductase | Labai dažnai (80–99%) | 1 ligoje |
| ZFPM2zinc finger protein, FOG family member 2 | Labai dažnai (80–99%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Dažnai (30–79%) | 1 ligoje |
| ALX4ALX homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| ARCN1archain 1 coat protein complex I subunit delta | Dažnai (30–79%) | 1 ligoje |
| ARXaristaless related homeobox | Dažnai (30–79%) | 3 ligose |
| ATP6V1AATPase H+ transporting V1 subunit A | Dažnai (30–79%) | 1 ligoje |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Dažnai (30–79%) | 1 ligoje |
| COLEC10collectin subfamily member 10 | Dažnai (30–79%) | 1 ligoje |
| CPEcarboxypeptidase E | Dažnai (30–79%) | 1 ligoje |
| CTU2cytosolic thiouridylase subunit 2 | Dažnai (30–79%) | 1 ligoje |
| DDX6DEAD-box helicase 6 | Dažnai (30–79%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Dažnai (30–79%) | 1 ligoje |
| DTYMKdeoxythymidylate kinase | Dažnai (30–79%) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Dažnai (30–79%) | 1 ligoje |
| EXT2exostosin glycosyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| FAM111AFAM111 trypsin like peptidase A | Dažnai (30–79%) | 1 ligoje |
| FANCBFA complementation group B | Dažnai (30–79%) | 1 ligoje |
| FBXO22F-box protein 22 | Dažnai (30–79%) | 1 ligoje |
| FIG4FIG4 phosphoinositide 5-phosphatase | Dažnai (30–79%) | 2 ligose |
| FILIP1filamin A interacting protein 1 | Dažnai (30–79%) | 1 ligoje |
| GLYCTKglycerate kinase | Dažnai (30–79%) | 1 ligoje |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Dažnai (30–79%) | 1 ligoje |
| HID1HID1 domain containing | Dažnai (30–79%) | 1 ligoje |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Dažnai (30–79%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Dažnai (30–79%) | 1 ligoje |
| KIAA0586KIAA0586 | Dažnai (30–79%) | 1 ligoje |
| KLF1KLF transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| LMNB2lamin B2 | Dažnai (30–79%) | 1 ligoje |
| MAGEL2MAGE family member L2 | Dažnai (30–79%) | 3 ligose |
| MAMLD1mastermind like domain containing 1 | Dažnai (30–79%) | 2 ligose |
| MBD5methyl-CpG binding domain protein 5 | Dažnai (30–79%) | 1 ligoje |
| MCTP2multiple C2 and transmembrane domain containing 2 | Dažnai (30–79%) | 1 ligoje |
| MED12mediator complex subunit 12 | Dažnai (30–79%) | 1 ligoje |
| MKRN3makorin ring finger protein 3 | Dažnai (30–79%) | 1 ligoje |
| MTM1myotubularin 1 | Dažnai (30–79%) | 1 ligoje |
| MYRFmyelin regulatory factor | Dažnai (30–79%) | 1 ligoje |
| NPAP1nuclear pore associated protein 1 | Dažnai (30–79%) | 1 ligoje |
| ORC1origin recognition complex subunit 1 | Dažnai (30–79%) | 1 ligoje |
| OTUD5OTU deubiquitinase 5 | Dažnai (30–79%) | 1 ligoje |
| PHF21APHD finger protein 21A | Dažnai (30–79%) | 1 ligoje |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Dažnai (30–79%) | 1 ligoje |
| PWAR1Prader Willi/Angelman region RNA 1 | Dažnai (30–79%) | 1 ligoje |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Dažnai (30–79%) | 1 ligoje |
| RAB18RAB18, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RSPO2R-spondin 2 | Dažnai (30–79%) | 1 ligoje |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Dažnai (30–79%) | 1 ligoje |
| SLC29A3solute carrier family 29 member 3 | Dažnai (30–79%) | 2 ligose |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Dažnai (30–79%) | 1 ligoje |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Dažnai (30–79%) | 1 ligoje |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Dažnai (30–79%) | 1 ligoje |
| TOE1target of EGR1, exonuclease | Dažnai (30–79%) | 2 ligose |
| VAC14VAC14 component of PIKFYVE complex | Dažnai (30–79%) | 1 ligoje |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Dažnai (30–79%) | 1 ligoje |
| ZSCAN10zinc finger and SCAN domain containing 10 | Dažnai (30–79%) | 1 ligoje |
| ACTA1actin alpha 1, skeletal muscle | Kartais (5–29%) | 1 ligoje |
| ADARadenosine deaminase RNA specific | Kartais (5–29%) | 1 ligoje |
| ADAT3adenosine deaminase tRNA specific 3 | Kartais (5–29%) | 1 ligoje |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Kartais (5–29%) | 1 ligoje |
| ALMS1ALMS1 centrosome and basal body associated protein | Kartais (5–29%) | 1 ligoje |
| ARandrogen receptor | Kartais (5–29%) | 3 ligose |
| ARMC9armadillo repeat containing 9 | Kartais (5–29%) | 1 ligoje |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Kartais (5–29%) | 1 ligoje |
| CDC42BPBCDC42 binding protein kinase beta | Kartais (5–29%) | 1 ligoje |
| CDC45cell division cycle 45 | Kartais (5–29%) | 1 ligoje |
| CDH2cadherin 2 | Kartais (5–29%) | 1 ligoje |
| COG5component of oligomeric golgi complex 5 | Kartais (5–29%) | 1 ligoje |
| DOT1LDOT1 like histone lysine methyltransferase | Kartais (5–29%) | 1 ligoje |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Kartais (5–29%) | 1 ligoje |
| ELNelastin | Kartais (5–29%) | 1 ligoje |
| FANCD2FA complementation group D2 | Kartais (5–29%) | 1 ligoje |
| FKRPfukutin related protein | Kartais (5–29%) | 1 ligoje |
| GLI3GLI family zinc finger 3 | Kartais (5–29%) | 2 ligose |
| GMPPBGDP-mannose pyrophosphorylase B | Kartais (5–29%) | 1 ligoje |
| GNB2G protein subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Kartais (5–29%) | 1 ligoje |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Kartais (5–29%) | 1 ligoje |
| HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | Kartais (5–29%) | 1 ligoje |
| IFIH1interferon induced with helicase C domain 1 | Kartais (5–29%) | 1 ligoje |
| KDM5Clysine demethylase 5C | Kartais (5–29%) | 1 ligoje |
| KIAA0753KIAA0753 | Kartais (5–29%) | 1 ligoje |
| KIF7kinesin family member 7 | Kartais (5–29%) | 1 ligoje |
| KLHL40kelch like family member 40 | Kartais (5–29%) | 1 ligoje |
| KLHL41kelch like family member 41 | Kartais (5–29%) | 1 ligoje |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| LMOD3leiomodin 3 | Kartais (5–29%) | 1 ligoje |
| LMX1BLIM homeobox transcription factor 1 beta | Kartais (5–29%) | 1 ligoje |
| LSM11LSM11, U7 small nuclear RNA associated | Kartais (5–29%) | 1 ligoje |
| LSSlanosterol synthase | Kartais (5–29%) | 1 ligoje |
| MEGF8multiple EGF like domains 8 | Kartais (5–29%) | 1 ligoje |
| MID1midline 1 | Kartais (5–29%) | 1 ligoje |
| MLXIPLMLX interacting protein like | Kartais (5–29%) | 1 ligoje |
| NEBnebulin | Kartais (5–29%) | 1 ligoje |
| NEK1NIMA related kinase 1 | Kartais (5–29%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Kartais (5–29%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Kartais (5–29%) | 1 ligoje |
| POMT2protein O-mannosyltransferase 2 | Kartais (5–29%) | 2 ligose |
| PORcytochrome p450 oxidoreductase | Kartais (5–29%) | 2 ligose |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Kartais (5–29%) | 1 ligoje |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Kartais (5–29%) | 1 ligoje |
| RNASEH2Aribonuclease H2 subunit A | Kartais (5–29%) | 1 ligoje |
| RNASEH2Bribonuclease H2 subunit B | Kartais (5–29%) | 1 ligoje |
| RNASEH2Cribonuclease H2 subunit C | Kartais (5–29%) | 1 ligoje |
| RNU7-1RNA, U7 small nuclear 1 | Kartais (5–29%) | 2 ligose |
| RYR1ryanodine receptor 1 | Kartais (5–29%) | 1 ligoje |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Kartais (5–29%) | 1 ligoje |
| SATB2SATB homeobox 2 | Kartais (5–29%) | 1 ligoje |
| SIM1SIM bHLH transcription factor 1 | Kartais (5–29%) | 1 ligoje |
| SRRM2serine/arginine repetitive matrix 2 | Kartais (5–29%) | 1 ligoje |
| STXBP1syntaxin binding protein 1 | Kartais (5–29%) | 1 ligoje |
| TBL1XR1TBL1X/Y related 1 | Kartais (5–29%) | 1 ligoje |
| TCF4transcription factor 4 | Kartais (5–29%) | 2 ligose |
| THOC2THO complex subunit 2 | Kartais (5–29%) | 1 ligoje |
| THOC6THO complex subunit 6 | Kartais (5–29%) | 1 ligoje |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Kartais (5–29%) | 1 ligoje |
| TREX1three prime repair exonuclease 1 | Kartais (5–29%) | 1 ligoje |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Kartais (5–29%) | 1 ligoje |
| TWIST2twist family bHLH transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Kartais (5–29%) | 1 ligoje |
| USP7ubiquitin specific peptidase 7 | Kartais (5–29%) | 2 ligose |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Retai (1–4 %) | 1 ligoje |
| CASKcalcium/calmodulin dependent serine protein kinase | Retai (1–4 %) | 1 ligoje |
| CDKL5cyclin dependent kinase like 5 | Retai (1–4 %) | 1 ligoje |
| DMXL2Dmx like 2 | Retai (1–4 %) | 1 ligoje |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Retai (1–4 %) | 2 ligose |
| GNAO1G protein subunit alpha o1 | Retai (1–4 %) | 1 ligoje |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Retai (1–4 %) | 1 ligoje |
| GRM7glutamate metabotropic receptor 7 | Retai (1–4 %) | 1 ligoje |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Retai (1–4 %) | 1 ligoje |
| LGI1leucine rich glioma inactivated 1 | Retai (1–4 %) | 1 ligoje |
| MYT1Lmyelin transcription factor 1 like | Retai (1–4 %) | 1 ligoje |
| NEUROD2neuronal differentiation 2 | Retai (1–4 %) | 1 ligoje |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Retai (1–4 %) | 1 ligoje |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Retai (1–4 %) | 1 ligoje |
| PNKPpolynucleotide kinase 3'-phosphatase | Retai (1–4 %) | 1 ligoje |
| POLEDNA polymerase epsilon, catalytic subunit | Retai (1–4 %) | 1 ligoje |
| RHOBTB2Rho related BTB domain containing 2 | Retai (1–4 %) | 1 ligoje |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Retai (1–4 %) | 1 ligoje |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Retai (1–4 %) | 1 ligoje |
| SETBP1SET binding protein 1 | Retai (1–4 %) | 2 ligose |
| SIK1salt inducible kinase 1 | Retai (1–4 %) | 1 ligoje |
| SLC25A22solute carrier family 25 member 22 | Retai (1–4 %) | 1 ligoje |
| SLC32A1solute carrier family 32 member 1 | Retai (1–4 %) | 1 ligoje |
| SPTBN1spectrin beta, non-erythrocytic 1 | Retai (1–4 %) | 1 ligoje |
| TRIM8tripartite motif containing 8 | Retai (1–4 %) | 1 ligoje |
| ZEB2zinc finger E-box binding homeobox 2 | Retai (1–4 %) | 2 ligose |
| ACTBactin beta | Neužfiksuota | 1 ligoje |
| ARL6ARF like GTPase 6 | Neužfiksuota | 1 ligoje |
| ATAD3AATPase family AAA domain containing 3A | Neužfiksuota | 1 ligoje |
| ATRXATRX chromatin remodeler | Neužfiksuota | 2 ligose |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Neužfiksuota | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Neužfiksuota | 1 ligoje |
| BLTP1bridge-like lipid transfer protein family member 1 | Neužfiksuota | 1 ligoje |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Neužfiksuota | 1 ligoje |
| CCDC28Bcoiled-coil domain containing 28B | Neužfiksuota | 1 ligoje |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Neužfiksuota | 1 ligoje |
| CEP41centrosomal protein 41 | Neužfiksuota | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Neužfiksuota | 1 ligoje |
| CUL4Bcullin 4B | Neužfiksuota | 1 ligoje |
| DCXdoublecortin | Neužfiksuota | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Neužfiksuota | 1 ligoje |
| DHODHdihydroorotate dehydrogenase (quinone) | Neužfiksuota | 1 ligoje |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Neužfiksuota | 1 ligoje |
| FRAS1Fraser extracellular matrix complex subunit 1 | Neužfiksuota | 1 ligoje |
| FZD2frizzled class receptor 2 | Neužfiksuota | 1 ligoje |
| GLI2GLI family zinc finger 2 | Neužfiksuota | 2 ligose |
| HCCSholocytochrome c synthase | Neužfiksuota | 1 ligoje |
| HDAC8histone deacetylase 8 | Neužfiksuota | 1 ligoje |
| HOXA13homeobox A13 | Neužfiksuota | 1 ligoje |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Neužfiksuota | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Neužfiksuota | 1 ligoje |
| KATNIPkatanin interacting protein | Neužfiksuota | 1 ligoje |
| KDM6Alysine demethylase 6A | Neužfiksuota | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Neužfiksuota | 1 ligoje |
| LEPleptin | Neužfiksuota | 1 ligoje |
| LHBluteinizing hormone subunit beta | Neužfiksuota | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Neužfiksuota | 1 ligoje |
| OPHN1oligophrenin 1 | Neužfiksuota | 1 ligoje |
| ORC6origin recognition complex subunit 6 | Neužfiksuota | 1 ligoje |
| PBX1PBX homeobox 1 | Neužfiksuota | 1 ligoje |
| PHF6PHD finger protein 6 | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Neužfiksuota | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Neužfiksuota | 1 ligoje |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Neužfiksuota | 1 ligoje |
| RLIMring finger protein, LIM domain interacting | Neužfiksuota | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Neužfiksuota | 1 ligoje |
| SGPL1sphingosine-1-phosphate lyase 1 | Neužfiksuota | 1 ligoje |
| SIX6SIX homeobox 6 | Neužfiksuota | 1 ligoje |
| SLC25A24solute carrier family 25 member 24 | Neužfiksuota | 1 ligoje |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Neužfiksuota | 1 ligoje |
| SMOsmoothened, frizzled class receptor | Neužfiksuota | 1 ligoje |
| SOX2SRY-box transcription factor 2 | Neužfiksuota | 1 ligoje |
| SRD5A2steroid 5 alpha-reductase 2 | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 1 | Neužfiksuota | 1 ligoje |
| TBCEtubulin folding cofactor E | Neužfiksuota | 1 ligoje |
| TP63tumor protein p63 | Neužfiksuota | 2 ligose |
| UBA1ubiquitin like modifier activating enzyme 1 | Neužfiksuota | 1 ligoje |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Neužfiksuota | 1 ligoje |
| WNT5AWnt family member 5A | Neužfiksuota | 1 ligoje |
| XRCC4X-ray repair cross complementing 4 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Platesni požymiai
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites