Piirre
Short penis
Kliininen nimi: 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.
Yhteenveto
- Tunnetaan myös nimellä
- Small penis
- Elimistön järjestelmä
- Abnormality of the genitourinary system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
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Tilaa Genome Test297 geeniä, jotka liittyvät piirteeseen Short penis
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Short penis esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ALG12ALG12 alpha-1,6-mannosyltransferase | Aina | 2 sairaudessa |
| ANOS1anosmin 1 | Aina | 3 sairaudessa |
| AXLAXL receptor tyrosine kinase | Aina | 1 sairaudessa |
| B9D2B9 domain containing 2 | Aina | 1 sairaudessa |
| BBS2Bardet-Biedl syndrome 2 | Aina | 1 sairaudessa |
| BBS5Bardet-Biedl syndrome 5 | Aina | 1 sairaudessa |
| C2CD3C2 domain containing 3 centriole elongation regulator | Aina | 1 sairaudessa |
| CCDC141coiled-coil domain containing 141 | Aina | 2 sairaudessa |
| CDC6cell division cycle 6 | Aina | 1 sairaudessa |
| CENPTcentromere protein T | Aina | 1 sairaudessa |
| CHD4chromodomain helicase DNA binding protein 4 | Aina | 1 sairaudessa |
| CHD7chromodomain helicase DNA binding protein 7 | Aina | 5 sairaudessa |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Aina | 2 sairaudessa |
| DNA2DNA replication helicase/nuclease 2 | Aina | 1 sairaudessa |
| DONSONDNA replication fork stabilization factor DONSON | Aina | 1 sairaudessa |
| DUSP6dual specificity phosphatase 6 | Aina | 3 sairaudessa |
| DVL1dishevelled segment polarity protein 1 | Aina | 2 sairaudessa |
| DVL3dishevelled segment polarity protein 3 | Aina | 1 sairaudessa |
| EBF3EBF transcription factor 3 | Aina | 1 sairaudessa |
| ECE1endothelin converting enzyme 1 | Aina | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Aina | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Aina | 1 sairaudessa |
| FANCLFA complementation group L | Aina | 1 sairaudessa |
| FAT4FAT atypical cadherin 4 | Aina | 1 sairaudessa |
| FEZF1FEZ family zinc finger 1 | Aina | 3 sairaudessa |
| FGF17fibroblast growth factor 17 | Aina | 3 sairaudessa |
| FGF8fibroblast growth factor 8 | Aina | 4 sairaudessa |
| FGFR1fibroblast growth factor receptor 1 | Aina | 5 sairaudessa |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Aina | 2 sairaudessa |
| GH1growth hormone 1 | Aina | 1 sairaudessa |
| GNRH1gonadotropin releasing hormone 1 | Aina | 3 sairaudessa |
| GNRHRgonadotropin releasing hormone receptor | Aina | 2 sairaudessa |
| H4C9H4 clustered histone 9 | Aina | 1 sairaudessa |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Aina | 4 sairaudessa |
| HYAL2hyaluronidase 2 | Aina | 1 sairaudessa |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Aina | 1 sairaudessa |
| INTUinturned planar cell polarity protein | Aina | 2 sairaudessa |
| JKAMPJNK1/MAPK8 associated membrane protein | Aina | 1 sairaudessa |
| KISS1KiSS-1 metastasis suppressor | Aina | 2 sairaudessa |
| KISS1RKISS1 receptor | Aina | 3 sairaudessa |
Näytä 257 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| KLHL15kelch like family member 15 | Aina | 1 sairaudessa |
| LAMA5laminin subunit alpha 5 | Aina | 1 sairaudessa |
| LIG4DNA ligase 4 | Aina | 1 sairaudessa |
| LZTFL1leucine zipper transcription factor like 1 | Aina | 1 sairaudessa |
| NDNFneuron derived neurotrophic factor | Aina | 2 sairaudessa |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Aina | 3 sairaudessa |
| OTX2orthodenticle homeobox 2 | Aina | 1 sairaudessa |
| PRDM13PR/SET domain 13 | Aina | 1 sairaudessa |
| PROK2prokineticin 2 | Aina | 4 sairaudessa |
| PROKR2prokineticin receptor 2 | Aina | 4 sairaudessa |
| PSMC1proteasome 26S subunit, ATPase 1 | Aina | 1 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Aina | 2 sairaudessa |
| RIPK4receptor interacting serine/threonine kinase 4 | Aina | 1 sairaudessa |
| RNF113Aring finger protein 113A | Aina | 1 sairaudessa |
| ROR2ROR family WNT receptor 2 | Aina | 2 sairaudessa |
| SEMA3Asemaphorin 3A | Aina | 3 sairaudessa |
| SEMA3Esemaphorin 3E | Aina | 2 sairaudessa |
| SGSM3small G protein signaling modulator 3 | Aina | 1 sairaudessa |
| SLC30A7solute carrier family 30 member 7 | Aina | 1 sairaudessa |
| SOX10SRY-box transcription factor 10 | Aina | 2 sairaudessa |
| SPRY4sprouty RTK signaling antagonist 4 | Aina | 3 sairaudessa |
| SRA1steroid receptor RNA activator 1 | Aina | 1 sairaudessa |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Aina | 2 sairaudessa |
| TAC3tachykinin precursor 3 | Aina | 2 sairaudessa |
| TACR3tachykinin receptor 3 | Aina | 4 sairaudessa |
| TBC1D20TBC1 domain family member 20 | Aina | 1 sairaudessa |
| TBC1D32TBC1 domain family member 32 | Aina | 1 sairaudessa |
| TBX3T-box transcription factor 3 | Aina | 1 sairaudessa |
| TOP2BDNA topoisomerase II beta | Aina | 1 sairaudessa |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Aina | 1 sairaudessa |
| WDR11WD repeat domain 11 | Aina | 3 sairaudessa |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Aina | 1 sairaudessa |
| ZPR1ZPR1 zinc finger | Aina | 1 sairaudessa |
| CDH11cadherin 11 | Hyvin usein (80–99%) | 1 sairaudessa |
| CYB5Acytochrome b5 type A | Hyvin usein (80–99%) | 2 sairaudessa |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| DCAF17DDB1 and CUL4 associated factor 17 | Hyvin usein (80–99%) | 2 sairaudessa |
| DCCDCC netrin 1 receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| DHX37DEAH-box helicase 37 | Hyvin usein (80–99%) | 1 sairaudessa |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Hyvin usein (80–99%) | 2 sairaudessa |
| EMX2empty spiracles homeobox 2 | Hyvin usein (80–99%) | 2 sairaudessa |
| GATA4GATA binding protein 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| HESX1HESX homeobox 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| IL17RDinterleukin 17 receptor D | Hyvin usein (80–99%) | 1 sairaudessa |
| INPP5Einositol polyphosphate-5-phosphatase E | Hyvin usein (80–99%) | 2 sairaudessa |
| MADDMAP kinase activating death domain | Hyvin usein (80–99%) | 2 sairaudessa |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NHLH2nescient helix-loop-helix 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PNPLA6patatin like domain 6, lysophospholipase | Hyvin usein (80–99%) | 3 sairaudessa |
| SOX9SRY-box transcription factor 9 | Hyvin usein (80–99%) | 3 sairaudessa |
| SRYsex determining region Y | Hyvin usein (80–99%) | 2 sairaudessa |
| TCF12transcription factor 12 | Hyvin usein (80–99%) | 1 sairaudessa |
| UBE2Aubiquitin conjugating enzyme E2 A | Hyvin usein (80–99%) | 2 sairaudessa |
| VAMP7vesicle associated membrane protein 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| WT1WT1 transcription factor | Hyvin usein (80–99%) | 1 sairaudessa |
| WWOXWW domain containing oxidoreductase | Hyvin usein (80–99%) | 1 sairaudessa |
| ZFPM2zinc finger protein, FOG family member 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| AHDC1AT-hook DNA binding motif containing 1 | Usein (30–79%) | 1 sairaudessa |
| ALX4ALX homeobox 4 | Usein (30–79%) | 1 sairaudessa |
| ARCN1archain 1 coat protein complex I subunit delta | Usein (30–79%) | 1 sairaudessa |
| ARXaristaless related homeobox | Usein (30–79%) | 3 sairaudessa |
| ATP6V1AATPase H+ transporting V1 subunit A | Usein (30–79%) | 1 sairaudessa |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Usein (30–79%) | 1 sairaudessa |
| COLEC10collectin subfamily member 10 | Usein (30–79%) | 1 sairaudessa |
| CPEcarboxypeptidase E | Usein (30–79%) | 1 sairaudessa |
| CTU2cytosolic thiouridylase subunit 2 | Usein (30–79%) | 1 sairaudessa |
| DDX6DEAD-box helicase 6 | Usein (30–79%) | 1 sairaudessa |
| DPYSL5dihydropyrimidinase like 5 | Usein (30–79%) | 1 sairaudessa |
| DTYMKdeoxythymidylate kinase | Usein (30–79%) | 1 sairaudessa |
| EHMT1euchromatic histone lysine methyltransferase 1 | Usein (30–79%) | 1 sairaudessa |
| EXT2exostosin glycosyltransferase 2 | Usein (30–79%) | 1 sairaudessa |
| FAM111AFAM111 trypsin like peptidase A | Usein (30–79%) | 1 sairaudessa |
| FANCBFA complementation group B | Usein (30–79%) | 1 sairaudessa |
| FBXO22F-box protein 22 | Usein (30–79%) | 1 sairaudessa |
| FIG4FIG4 phosphoinositide 5-phosphatase | Usein (30–79%) | 2 sairaudessa |
| FILIP1filamin A interacting protein 1 | Usein (30–79%) | 1 sairaudessa |
| GLYCTKglycerate kinase | Usein (30–79%) | 1 sairaudessa |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Usein (30–79%) | 1 sairaudessa |
| HID1HID1 domain containing | Usein (30–79%) | 1 sairaudessa |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Usein (30–79%) | 1 sairaudessa |
| IFT172intraflagellar transport 172 | Usein (30–79%) | 1 sairaudessa |
| KIAA0586KIAA0586 | Usein (30–79%) | 1 sairaudessa |
| KLF1KLF transcription factor 1 | Usein (30–79%) | 1 sairaudessa |
| LMNB2lamin B2 | Usein (30–79%) | 1 sairaudessa |
| MAGEL2MAGE family member L2 | Usein (30–79%) | 3 sairaudessa |
| MAMLD1mastermind like domain containing 1 | Usein (30–79%) | 2 sairaudessa |
| MBD5methyl-CpG binding domain protein 5 | Usein (30–79%) | 1 sairaudessa |
| MCTP2multiple C2 and transmembrane domain containing 2 | Usein (30–79%) | 1 sairaudessa |
| MED12mediator complex subunit 12 | Usein (30–79%) | 1 sairaudessa |
| MKRN3makorin ring finger protein 3 | Usein (30–79%) | 1 sairaudessa |
| MTM1myotubularin 1 | Usein (30–79%) | 1 sairaudessa |
| MYRFmyelin regulatory factor | Usein (30–79%) | 1 sairaudessa |
| NPAP1nuclear pore associated protein 1 | Usein (30–79%) | 1 sairaudessa |
| ORC1origin recognition complex subunit 1 | Usein (30–79%) | 1 sairaudessa |
| OTUD5OTU deubiquitinase 5 | Usein (30–79%) | 1 sairaudessa |
| PHF21APHD finger protein 21A | Usein (30–79%) | 1 sairaudessa |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Usein (30–79%) | 1 sairaudessa |
| PWAR1Prader Willi/Angelman region RNA 1 | Usein (30–79%) | 1 sairaudessa |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Usein (30–79%) | 1 sairaudessa |
| RAB18RAB18, member RAS oncogene family | Usein (30–79%) | 1 sairaudessa |
| RSPO2R-spondin 2 | Usein (30–79%) | 1 sairaudessa |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Usein (30–79%) | 1 sairaudessa |
| SLC29A3solute carrier family 29 member 3 | Usein (30–79%) | 2 sairaudessa |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Usein (30–79%) | 1 sairaudessa |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Usein (30–79%) | 1 sairaudessa |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Usein (30–79%) | 1 sairaudessa |
| TOE1target of EGR1, exonuclease | Usein (30–79%) | 2 sairaudessa |
| VAC14VAC14 component of PIKFYVE complex | Usein (30–79%) | 1 sairaudessa |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Usein (30–79%) | 1 sairaudessa |
| ZSCAN10zinc finger and SCAN domain containing 10 | Usein (30–79%) | 1 sairaudessa |
| ACTA1actin alpha 1, skeletal muscle | Joskus (5–29%) | 1 sairaudessa |
| ADARadenosine deaminase RNA specific | Joskus (5–29%) | 1 sairaudessa |
| ADAT3adenosine deaminase tRNA specific 3 | Joskus (5–29%) | 1 sairaudessa |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| ALMS1ALMS1 centrosome and basal body associated protein | Joskus (5–29%) | 1 sairaudessa |
| ARandrogen receptor | Joskus (5–29%) | 3 sairaudessa |
| ARMC9armadillo repeat containing 9 | Joskus (5–29%) | 1 sairaudessa |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Joskus (5–29%) | 1 sairaudessa |
| CDC42BPBCDC42 binding protein kinase beta | Joskus (5–29%) | 1 sairaudessa |
| CDC45cell division cycle 45 | Joskus (5–29%) | 1 sairaudessa |
| CDH2cadherin 2 | Joskus (5–29%) | 1 sairaudessa |
| COG5component of oligomeric golgi complex 5 | Joskus (5–29%) | 1 sairaudessa |
| DOT1LDOT1 like histone lysine methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Joskus (5–29%) | 1 sairaudessa |
| ELNelastin | Joskus (5–29%) | 1 sairaudessa |
| FANCD2FA complementation group D2 | Joskus (5–29%) | 1 sairaudessa |
| FKRPfukutin related protein | Joskus (5–29%) | 1 sairaudessa |
| GLI3GLI family zinc finger 3 | Joskus (5–29%) | 2 sairaudessa |
| GMPPBGDP-mannose pyrophosphorylase B | Joskus (5–29%) | 1 sairaudessa |
| GNB2G protein subunit beta 2 | Joskus (5–29%) | 1 sairaudessa |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Joskus (5–29%) | 1 sairaudessa |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Joskus (5–29%) | 1 sairaudessa |
| HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | Joskus (5–29%) | 1 sairaudessa |
| IFIH1interferon induced with helicase C domain 1 | Joskus (5–29%) | 1 sairaudessa |
| KDM5Clysine demethylase 5C | Joskus (5–29%) | 1 sairaudessa |
| KIAA0753KIAA0753 | Joskus (5–29%) | 1 sairaudessa |
| KIF7kinesin family member 7 | Joskus (5–29%) | 1 sairaudessa |
| KLHL40kelch like family member 40 | Joskus (5–29%) | 1 sairaudessa |
| KLHL41kelch like family member 41 | Joskus (5–29%) | 1 sairaudessa |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| LMOD3leiomodin 3 | Joskus (5–29%) | 1 sairaudessa |
| LMX1BLIM homeobox transcription factor 1 beta | Joskus (5–29%) | 1 sairaudessa |
| LSM11LSM11, U7 small nuclear RNA associated | Joskus (5–29%) | 1 sairaudessa |
| LSSlanosterol synthase | Joskus (5–29%) | 1 sairaudessa |
| MEGF8multiple EGF like domains 8 | Joskus (5–29%) | 1 sairaudessa |
| MID1midline 1 | Joskus (5–29%) | 1 sairaudessa |
| MLXIPLMLX interacting protein like | Joskus (5–29%) | 1 sairaudessa |
| NEBnebulin | Joskus (5–29%) | 1 sairaudessa |
| NEK1NIMA related kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| POGZpogo transposable element derived with ZNF domain | Joskus (5–29%) | 1 sairaudessa |
| POMT1protein O-mannosyltransferase 1 | Joskus (5–29%) | 1 sairaudessa |
| POMT2protein O-mannosyltransferase 2 | Joskus (5–29%) | 2 sairaudessa |
| PORcytochrome p450 oxidoreductase | Joskus (5–29%) | 2 sairaudessa |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Joskus (5–29%) | 1 sairaudessa |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| RNASEH2Aribonuclease H2 subunit A | Joskus (5–29%) | 1 sairaudessa |
| RNASEH2Bribonuclease H2 subunit B | Joskus (5–29%) | 1 sairaudessa |
| RNASEH2Cribonuclease H2 subunit C | Joskus (5–29%) | 1 sairaudessa |
| RNU7-1RNA, U7 small nuclear 1 | Joskus (5–29%) | 2 sairaudessa |
| RYR1ryanodine receptor 1 | Joskus (5–29%) | 1 sairaudessa |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Joskus (5–29%) | 1 sairaudessa |
| SATB2SATB homeobox 2 | Joskus (5–29%) | 1 sairaudessa |
| SIM1SIM bHLH transcription factor 1 | Joskus (5–29%) | 1 sairaudessa |
| SRRM2serine/arginine repetitive matrix 2 | Joskus (5–29%) | 1 sairaudessa |
| STXBP1syntaxin binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| TBL1XR1TBL1X/Y related 1 | Joskus (5–29%) | 1 sairaudessa |
| TCF4transcription factor 4 | Joskus (5–29%) | 2 sairaudessa |
| THOC2THO complex subunit 2 | Joskus (5–29%) | 1 sairaudessa |
| THOC6THO complex subunit 6 | Joskus (5–29%) | 1 sairaudessa |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Joskus (5–29%) | 1 sairaudessa |
| TREX1three prime repair exonuclease 1 | Joskus (5–29%) | 1 sairaudessa |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Joskus (5–29%) | 1 sairaudessa |
| TWIST2twist family bHLH transcription factor 2 | Joskus (5–29%) | 1 sairaudessa |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Joskus (5–29%) | 1 sairaudessa |
| USP7ubiquitin specific peptidase 7 | Joskus (5–29%) | 2 sairaudessa |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Harvinainen (1–4 %) | 1 sairaudessa |
| CASKcalcium/calmodulin dependent serine protein kinase | Harvinainen (1–4 %) | 1 sairaudessa |
| CDKL5cyclin dependent kinase like 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| DMXL2Dmx like 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Harvinainen (1–4 %) | 2 sairaudessa |
| GNAO1G protein subunit alpha o1 | Harvinainen (1–4 %) | 1 sairaudessa |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| GRM7glutamate metabotropic receptor 7 | Harvinainen (1–4 %) | 1 sairaudessa |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| LGI1leucine rich glioma inactivated 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| MYT1Lmyelin transcription factor 1 like | Harvinainen (1–4 %) | 1 sairaudessa |
| NEUROD2neuronal differentiation 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Harvinainen (1–4 %) | 1 sairaudessa |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Harvinainen (1–4 %) | 1 sairaudessa |
| PNKPpolynucleotide kinase 3'-phosphatase | Harvinainen (1–4 %) | 1 sairaudessa |
| POLEDNA polymerase epsilon, catalytic subunit | Harvinainen (1–4 %) | 1 sairaudessa |
| RHOBTB2Rho related BTB domain containing 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| SETBP1SET binding protein 1 | Harvinainen (1–4 %) | 2 sairaudessa |
| SIK1salt inducible kinase 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC25A22solute carrier family 25 member 22 | Harvinainen (1–4 %) | 1 sairaudessa |
| SLC32A1solute carrier family 32 member 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SPTBN1spectrin beta, non-erythrocytic 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| TRIM8tripartite motif containing 8 | Harvinainen (1–4 %) | 1 sairaudessa |
| ZEB2zinc finger E-box binding homeobox 2 | Harvinainen (1–4 %) | 2 sairaudessa |
| ACTBactin beta | Ei kirjattu | 1 sairaudessa |
| ARL6ARF like GTPase 6 | Ei kirjattu | 1 sairaudessa |
| ATAD3AATPase family AAA domain containing 3A | Ei kirjattu | 1 sairaudessa |
| ATRXATRX chromatin remodeler | Ei kirjattu | 2 sairaudessa |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ei kirjattu | 1 sairaudessa |
| BBS1Bardet-Biedl syndrome 1 | Ei kirjattu | 1 sairaudessa |
| BLTP1bridge-like lipid transfer protein family member 1 | Ei kirjattu | 1 sairaudessa |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ei kirjattu | 1 sairaudessa |
| CCDC28Bcoiled-coil domain containing 28B | Ei kirjattu | 1 sairaudessa |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ei kirjattu | 1 sairaudessa |
| CEP41centrosomal protein 41 | Ei kirjattu | 1 sairaudessa |
| COX7Bcytochrome c oxidase subunit 7B | Ei kirjattu | 1 sairaudessa |
| CUL4Bcullin 4B | Ei kirjattu | 1 sairaudessa |
| DCXdoublecortin | Ei kirjattu | 1 sairaudessa |
| DHCR77-dehydrocholesterol reductase | Ei kirjattu | 1 sairaudessa |
| DHODHdihydroorotate dehydrogenase (quinone) | Ei kirjattu | 1 sairaudessa |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ei kirjattu | 1 sairaudessa |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ei kirjattu | 1 sairaudessa |
| FZD2frizzled class receptor 2 | Ei kirjattu | 1 sairaudessa |
| GLI2GLI family zinc finger 2 | Ei kirjattu | 2 sairaudessa |
| HCCSholocytochrome c synthase | Ei kirjattu | 1 sairaudessa |
| HDAC8histone deacetylase 8 | Ei kirjattu | 1 sairaudessa |
| HOXA13homeobox A13 | Ei kirjattu | 1 sairaudessa |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ei kirjattu | 1 sairaudessa |
| KAT6Blysine acetyltransferase 6B | Ei kirjattu | 1 sairaudessa |
| KATNIPkatanin interacting protein | Ei kirjattu | 1 sairaudessa |
| KDM6Alysine demethylase 6A | Ei kirjattu | 1 sairaudessa |
| KMT2Dlysine methyltransferase 2D | Ei kirjattu | 1 sairaudessa |
| LEPleptin | Ei kirjattu | 1 sairaudessa |
| LHBluteinizing hormone subunit beta | Ei kirjattu | 1 sairaudessa |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Ei kirjattu | 1 sairaudessa |
| OPHN1oligophrenin 1 | Ei kirjattu | 1 sairaudessa |
| ORC6origin recognition complex subunit 6 | Ei kirjattu | 1 sairaudessa |
| PBX1PBX homeobox 1 | Ei kirjattu | 1 sairaudessa |
| PHF6PHD finger protein 6 | Ei kirjattu | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ei kirjattu | 1 sairaudessa |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ei kirjattu | 1 sairaudessa |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ei kirjattu | 1 sairaudessa |
| RLIMring finger protein, LIM domain interacting | Ei kirjattu | 1 sairaudessa |
| RNU4ATACRNA, U4atac small nuclear | Ei kirjattu | 1 sairaudessa |
| SGPL1sphingosine-1-phosphate lyase 1 | Ei kirjattu | 1 sairaudessa |
| SIX6SIX homeobox 6 | Ei kirjattu | 1 sairaudessa |
| SLC25A24solute carrier family 25 member 24 | Ei kirjattu | 1 sairaudessa |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Ei kirjattu | 1 sairaudessa |
| SMOsmoothened, frizzled class receptor | Ei kirjattu | 1 sairaudessa |
| SOX2SRY-box transcription factor 2 | Ei kirjattu | 1 sairaudessa |
| SRD5A2steroid 5 alpha-reductase 2 | Ei kirjattu | 1 sairaudessa |
| TAPT1transmembrane anterior posterior transformation 1 | Ei kirjattu | 1 sairaudessa |
| TBCEtubulin folding cofactor E | Ei kirjattu | 1 sairaudessa |
| TP63tumor protein p63 | Ei kirjattu | 2 sairaudessa |
| UBA1ubiquitin like modifier activating enzyme 1 | Ei kirjattu | 1 sairaudessa |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ei kirjattu | 1 sairaudessa |
| WNT5AWnt family member 5A | Ei kirjattu | 1 sairaudessa |
| XRCC4X-ray repair cross complementing 4 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
Yksi testi. Vastauksia koko elämäksi.
Alkaen 449 $Ilmainen toimitus · Tulokset 6–8 viikossa