Træk
Short penis
Klinisk navn: 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.
Resumé
- Også kaldet
- Small penis
- Kropssystem
- Abnormality of the genitourinary system
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test297 gener knyttet til Short penis
Ændringer i disse gener forårsager sjældne tilstande, hvor Short penis ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ALG12ALG12 alpha-1,6-mannosyltransferase | Altid | I 2 tilstande |
| ANOS1anosmin 1 | Altid | I 3 tilstande |
| AXLAXL receptor tyrosine kinase | Altid | I 1 tilstand |
| B9D2B9 domain containing 2 | Altid | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Altid | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Altid | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Altid | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Altid | I 2 tilstande |
| CDC6cell division cycle 6 | Altid | I 1 tilstand |
| CENPTcentromere protein T | Altid | I 1 tilstand |
| CHD4chromodomain helicase DNA binding protein 4 | Altid | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Altid | I 5 tilstande |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altid | I 2 tilstande |
| DNA2DNA replication helicase/nuclease 2 | Altid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Altid | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Altid | I 3 tilstande |
| DVL1dishevelled segment polarity protein 1 | Altid | I 2 tilstande |
| DVL3dishevelled segment polarity protein 3 | Altid | I 1 tilstand |
| EBF3EBF transcription factor 3 | Altid | I 1 tilstand |
| ECE1endothelin converting enzyme 1 | Altid | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Altid | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Altid | I 1 tilstand |
| FANCLFA complementation group L | Altid | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Altid | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Altid | I 3 tilstande |
| FGF17fibroblast growth factor 17 | Altid | I 3 tilstande |
| FGF8fibroblast growth factor 8 | Altid | I 4 tilstande |
| FGFR1fibroblast growth factor receptor 1 | Altid | I 5 tilstande |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Altid | I 2 tilstande |
| GH1growth hormone 1 | Altid | I 1 tilstand |
| GNRH1gonadotropin releasing hormone 1 | Altid | I 3 tilstande |
| GNRHRgonadotropin releasing hormone receptor | Altid | I 2 tilstande |
| H4C9H4 clustered histone 9 | Altid | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Altid | I 4 tilstande |
| HYAL2hyaluronidase 2 | Altid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Altid | I 1 tilstand |
| INTUinturned planar cell polarity protein | Altid | I 2 tilstande |
| JKAMPJNK1/MAPK8 associated membrane protein | Altid | I 1 tilstand |
| KISS1KiSS-1 metastasis suppressor | Altid | I 2 tilstande |
| KISS1RKISS1 receptor | Altid | I 3 tilstande |
Vis 257 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| KLHL15kelch like family member 15 | Altid | I 1 tilstand |
| LAMA5laminin subunit alpha 5 | Altid | I 1 tilstand |
| LIG4DNA ligase 4 | Altid | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Altid | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Altid | I 2 tilstande |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Altid | I 3 tilstande |
| OTX2orthodenticle homeobox 2 | Altid | I 1 tilstand |
| PRDM13PR/SET domain 13 | Altid | I 1 tilstand |
| PROK2prokineticin 2 | Altid | I 4 tilstande |
| PROKR2prokineticin receptor 2 | Altid | I 4 tilstande |
| PSMC1proteasome 26S subunit, ATPase 1 | Altid | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Altid | I 2 tilstande |
| RIPK4receptor interacting serine/threonine kinase 4 | Altid | I 1 tilstand |
| RNF113Aring finger protein 113A | Altid | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Altid | I 2 tilstande |
| SEMA3Asemaphorin 3A | Altid | I 3 tilstande |
| SEMA3Esemaphorin 3E | Altid | I 2 tilstande |
| SGSM3small G protein signaling modulator 3 | Altid | I 1 tilstand |
| SLC30A7solute carrier family 30 member 7 | Altid | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Altid | I 2 tilstande |
| SPRY4sprouty RTK signaling antagonist 4 | Altid | I 3 tilstande |
| SRA1steroid receptor RNA activator 1 | Altid | I 1 tilstand |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Altid | I 2 tilstande |
| TAC3tachykinin precursor 3 | Altid | I 2 tilstande |
| TACR3tachykinin receptor 3 | Altid | I 4 tilstande |
| TBC1D20TBC1 domain family member 20 | Altid | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Altid | I 1 tilstand |
| TBX3T-box transcription factor 3 | Altid | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Altid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Altid | I 1 tilstand |
| WDR11WD repeat domain 11 | Altid | I 3 tilstande |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Altid | I 1 tilstand |
| ZPR1ZPR1 zinc finger | Altid | I 1 tilstand |
| CDH11cadherin 11 | Meget ofte (80–99 %) | I 1 tilstand |
| CYB5Acytochrome b5 type A | Meget ofte (80–99 %) | I 2 tilstande |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| DCAF17DDB1 and CUL4 associated factor 17 | Meget ofte (80–99 %) | I 2 tilstande |
| DCCDCC netrin 1 receptor | Meget ofte (80–99 %) | I 1 tilstand |
| DHX37DEAH-box helicase 37 | Meget ofte (80–99 %) | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Meget ofte (80–99 %) | I 2 tilstande |
| EMX2empty spiracles homeobox 2 | Meget ofte (80–99 %) | I 2 tilstande |
| GATA4GATA binding protein 4 | Meget ofte (80–99 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Meget ofte (80–99 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Meget ofte (80–99 %) | I 2 tilstande |
| MADDMAP kinase activating death domain | Meget ofte (80–99 %) | I 2 tilstande |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NHLH2nescient helix-loop-helix 2 | Meget ofte (80–99 %) | I 1 tilstand |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PNPLA6patatin like domain 6, lysophospholipase | Meget ofte (80–99 %) | I 3 tilstande |
| SOX9SRY-box transcription factor 9 | Meget ofte (80–99 %) | I 3 tilstande |
| SRYsex determining region Y | Meget ofte (80–99 %) | I 2 tilstande |
| TCF12transcription factor 12 | Meget ofte (80–99 %) | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Meget ofte (80–99 %) | I 2 tilstande |
| VAMP7vesicle associated membrane protein 7 | Meget ofte (80–99 %) | I 1 tilstand |
| WT1WT1 transcription factor | Meget ofte (80–99 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Meget ofte (80–99 %) | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Meget ofte (80–99 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ALX4ALX homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| ARCN1archain 1 coat protein complex I subunit delta | Ofte (30–79 %) | I 1 tilstand |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 3 tilstande |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| COLEC10collectin subfamily member 10 | Ofte (30–79 %) | I 1 tilstand |
| CPEcarboxypeptidase E | Ofte (30–79 %) | I 1 tilstand |
| CTU2cytosolic thiouridylase subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| DDX6DEAD-box helicase 6 | Ofte (30–79 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Ofte (30–79 %) | I 1 tilstand |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| FAM111AFAM111 trypsin like peptidase A | Ofte (30–79 %) | I 1 tilstand |
| FANCBFA complementation group B | Ofte (30–79 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 2 tilstande |
| FILIP1filamin A interacting protein 1 | Ofte (30–79 %) | I 1 tilstand |
| GLYCTKglycerate kinase | Ofte (30–79 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Ofte (30–79 %) | I 1 tilstand |
| HID1HID1 domain containing | Ofte (30–79 %) | I 1 tilstand |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Ofte (30–79 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Ofte (30–79 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Ofte (30–79 %) | I 1 tilstand |
| KLF1KLF transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| LMNB2lamin B2 | Ofte (30–79 %) | I 1 tilstand |
| MAGEL2MAGE family member L2 | Ofte (30–79 %) | I 3 tilstande |
| MAMLD1mastermind like domain containing 1 | Ofte (30–79 %) | I 2 tilstande |
| MBD5methyl-CpG binding domain protein 5 | Ofte (30–79 %) | I 1 tilstand |
| MCTP2multiple C2 and transmembrane domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 1 tilstand |
| MKRN3makorin ring finger protein 3 | Ofte (30–79 %) | I 1 tilstand |
| MTM1myotubularin 1 | Ofte (30–79 %) | I 1 tilstand |
| MYRFmyelin regulatory factor | Ofte (30–79 %) | I 1 tilstand |
| NPAP1nuclear pore associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 1 tilstand |
| PWAR1Prader Willi/Angelman region RNA 1 | Ofte (30–79 %) | I 1 tilstand |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Ofte (30–79 %) | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Ofte (30–79 %) | I 1 tilstand |
| RSPO2R-spondin 2 | Ofte (30–79 %) | I 1 tilstand |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| SLC29A3solute carrier family 29 member 3 | Ofte (30–79 %) | I 2 tilstande |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Ofte (30–79 %) | I 1 tilstand |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Ofte (30–79 %) | I 1 tilstand |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 2 tilstande |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Ofte (30–79 %) | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Ofte (30–79 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Nogle gange (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Nogle gange (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Nogle gange (5–29 %) | I 1 tilstand |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Nogle gange (5–29 %) | I 1 tilstand |
| ARandrogen receptor | Nogle gange (5–29 %) | I 3 tilstande |
| ARMC9armadillo repeat containing 9 | Nogle gange (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Nogle gange (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Nogle gange (5–29 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Nogle gange (5–29 %) | I 1 tilstand |
| CDH2cadherin 2 | Nogle gange (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Nogle gange (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ELNelastin | Nogle gange (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Nogle gange (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Nogle gange (5–29 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Nogle gange (5–29 %) | I 2 tilstande |
| GMPPBGDP-mannose pyrophosphorylase B | Nogle gange (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | Nogle gange (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Nogle gange (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Nogle gange (5–29 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Nogle gange (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Nogle gange (5–29 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Nogle gange (5–29 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Nogle gange (5–29 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Nogle gange (5–29 %) | I 1 tilstand |
| LSSlanosterol synthase | Nogle gange (5–29 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MID1midline 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Nogle gange (5–29 %) | I 1 tilstand |
| NEBnebulin | Nogle gange (5–29 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Nogle gange (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| PORcytochrome p450 oxidoreductase | Nogle gange (5–29 %) | I 2 tilstande |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Nogle gange (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Nogle gange (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Nogle gange (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Nogle gange (5–29 %) | I 2 tilstande |
| RYR1ryanodine receptor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Nogle gange (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TCF4transcription factor 4 | Nogle gange (5–29 %) | I 2 tilstande |
| THOC2THO complex subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Nogle gange (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Nogle gange (5–29 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Nogle gange (5–29 %) | I 2 tilstande |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sjældent (1–4%) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Sjældent (1–4%) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Sjældent (1–4%) | I 1 tilstand |
| DMXL2Dmx like 2 | Sjældent (1–4%) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sjældent (1–4%) | I 2 tilstande |
| GNAO1G protein subunit alpha o1 | Sjældent (1–4%) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Sjældent (1–4%) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sjældent (1–4%) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Sjældent (1–4%) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Sjældent (1–4%) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Sjældent (1–4%) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sjældent (1–4%) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sjældent (1–4%) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Sjældent (1–4%) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Sjældent (1–4%) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Sjældent (1–4%) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjældent (1–4%) | I 2 tilstande |
| SIK1salt inducible kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Sjældent (1–4%) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Sjældent (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjældent (1–4%) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Sjældent (1–4%) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Sjældent (1–4%) | I 2 tilstande |
| ACTBactin beta | Ikke registreret | I 1 tilstand |
| ARL6ARF like GTPase 6 | Ikke registreret | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ikke registreret | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registreret | I 2 tilstande |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ikke registreret | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ikke registreret | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registreret | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registreret | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registreret | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ikke registreret | I 1 tilstand |
| CEP41centrosomal protein 41 | Ikke registreret | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Ikke registreret | I 1 tilstand |
| CUL4Bcullin 4B | Ikke registreret | I 1 tilstand |
| DCXdoublecortin | Ikke registreret | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ikke registreret | I 1 tilstand |
| DHODHdihydroorotate dehydrogenase (quinone) | Ikke registreret | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ikke registreret | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ikke registreret | I 1 tilstand |
| FZD2frizzled class receptor 2 | Ikke registreret | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ikke registreret | I 2 tilstande |
| HCCSholocytochrome c synthase | Ikke registreret | I 1 tilstand |
| HDAC8histone deacetylase 8 | Ikke registreret | I 1 tilstand |
| HOXA13homeobox A13 | Ikke registreret | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registreret | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ikke registreret | I 1 tilstand |
| KATNIPkatanin interacting protein | Ikke registreret | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ikke registreret | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ikke registreret | I 1 tilstand |
| LEPleptin | Ikke registreret | I 1 tilstand |
| LHBluteinizing hormone subunit beta | Ikke registreret | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Ikke registreret | I 1 tilstand |
| OPHN1oligophrenin 1 | Ikke registreret | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Ikke registreret | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registreret | I 1 tilstand |
| PHF6PHD finger protein 6 | Ikke registreret | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registreret | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ikke registreret | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ikke registreret | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registreret | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Ikke registreret | I 1 tilstand |
| SGPL1sphingosine-1-phosphate lyase 1 | Ikke registreret | I 1 tilstand |
| SIX6SIX homeobox 6 | Ikke registreret | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registreret | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Ikke registreret | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Ikke registreret | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Ikke registreret | I 1 tilstand |
| SRD5A2steroid 5 alpha-reductase 2 | Ikke registreret | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registreret | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ikke registreret | I 1 tilstand |
| TP63tumor protein p63 | Ikke registreret | I 2 tilstande |
| UBA1ubiquitin like modifier activating enzyme 1 | Ikke registreret | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ikke registreret | I 1 tilstand |
| WNT5AWnt family member 5A | Ikke registreret | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger