Egenskap
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.
Sammendrag
- Også kalt
- Small penis
- Kroppssystem
- Abnormality of the genitourinary system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test297 gener knyttet til Short penis
Endringer i disse genene forårsaker sjeldne tilstander der Short penis forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ALG12ALG12 alpha-1,6-mannosyltransferase | Alltid | I 2 tilstander |
| ANOS1anosmin 1 | Alltid | I 3 tilstander |
| AXLAXL receptor tyrosine kinase | Alltid | I 1 tilstand |
| B9D2B9 domain containing 2 | Alltid | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Alltid | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Alltid | I 1 tilstand |
| C2CD3C2 domain containing 3 centriole elongation regulator | Alltid | I 1 tilstand |
| CCDC141coiled-coil domain containing 141 | Alltid | I 2 tilstander |
| CDC6cell division cycle 6 | Alltid | I 1 tilstand |
| CENPTcentromere protein T | Alltid | I 1 tilstand |
| CHD4chromodomain helicase DNA binding protein 4 | Alltid | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Alltid | I 5 tilstander |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Alltid | I 2 tilstander |
| DNA2DNA replication helicase/nuclease 2 | Alltid | I 1 tilstand |
| DONSONDNA replication fork stabilization factor DONSON | Alltid | I 1 tilstand |
| DUSP6dual specificity phosphatase 6 | Alltid | I 3 tilstander |
| DVL1dishevelled segment polarity protein 1 | Alltid | I 2 tilstander |
| DVL3dishevelled segment polarity protein 3 | Alltid | I 1 tilstand |
| EBF3EBF transcription factor 3 | Alltid | I 1 tilstand |
| ECE1endothelin converting enzyme 1 | Alltid | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Alltid | I 1 tilstand |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Alltid | I 1 tilstand |
| FANCLFA complementation group L | Alltid | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Alltid | I 1 tilstand |
| FEZF1FEZ family zinc finger 1 | Alltid | I 3 tilstander |
| FGF17fibroblast growth factor 17 | Alltid | I 3 tilstander |
| FGF8fibroblast growth factor 8 | Alltid | I 4 tilstander |
| FGFR1fibroblast growth factor receptor 1 | Alltid | I 5 tilstander |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Alltid | I 2 tilstander |
| GH1growth hormone 1 | Alltid | I 1 tilstand |
| GNRH1gonadotropin releasing hormone 1 | Alltid | I 3 tilstander |
| GNRHRgonadotropin releasing hormone receptor | Alltid | I 2 tilstander |
| H4C9H4 clustered histone 9 | Alltid | I 1 tilstand |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Alltid | I 4 tilstander |
| HYAL2hyaluronidase 2 | Alltid | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Alltid | I 1 tilstand |
| INTUinturned planar cell polarity protein | Alltid | I 2 tilstander |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KISS1KiSS-1 metastasis suppressor | Alltid | I 2 tilstander |
| KISS1RKISS1 receptor | Alltid | I 3 tilstander |
Vis 257 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| KLHL15kelch like family member 15 | Alltid | I 1 tilstand |
| LAMA5laminin subunit alpha 5 | Alltid | I 1 tilstand |
| LIG4DNA ligase 4 | Alltid | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Alltid | I 1 tilstand |
| NDNFneuron derived neurotrophic factor | Alltid | I 2 tilstander |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Alltid | I 3 tilstander |
| OTX2orthodenticle homeobox 2 | Alltid | I 1 tilstand |
| PRDM13PR/SET domain 13 | Alltid | I 1 tilstand |
| PROK2prokineticin 2 | Alltid | I 4 tilstander |
| PROKR2prokineticin receptor 2 | Alltid | I 4 tilstander |
| PSMC1proteasome 26S subunit, ATPase 1 | Alltid | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Alltid | I 2 tilstander |
| RIPK4receptor interacting serine/threonine kinase 4 | Alltid | I 1 tilstand |
| RNF113Aring finger protein 113A | Alltid | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Alltid | I 2 tilstander |
| SEMA3Asemaphorin 3A | Alltid | I 3 tilstander |
| SEMA3Esemaphorin 3E | Alltid | I 2 tilstander |
| SGSM3small G protein signaling modulator 3 | Alltid | I 1 tilstand |
| SLC30A7solute carrier family 30 member 7 | Alltid | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Alltid | I 2 tilstander |
| SPRY4sprouty RTK signaling antagonist 4 | Alltid | I 3 tilstander |
| SRA1steroid receptor RNA activator 1 | Alltid | I 1 tilstand |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Alltid | I 2 tilstander |
| TAC3tachykinin precursor 3 | Alltid | I 2 tilstander |
| TACR3tachykinin receptor 3 | Alltid | I 4 tilstander |
| TBC1D20TBC1 domain family member 20 | Alltid | I 1 tilstand |
| TBC1D32TBC1 domain family member 32 | Alltid | I 1 tilstand |
| TBX3T-box transcription factor 3 | Alltid | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Alltid | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Alltid | I 1 tilstand |
| WDR11WD repeat domain 11 | Alltid | I 3 tilstander |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| ZPR1ZPR1 zinc finger | Alltid | I 1 tilstand |
| CDH11cadherin 11 | Svært ofte (80–99 %) | I 1 tilstand |
| CYB5Acytochrome b5 type A | Svært ofte (80–99 %) | I 2 tilstander |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| DCAF17DDB1 and CUL4 associated factor 17 | Svært ofte (80–99 %) | I 2 tilstander |
| DCCDCC netrin 1 receptor | Svært ofte (80–99 %) | I 1 tilstand |
| DHX37DEAH-box helicase 37 | Svært ofte (80–99 %) | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Svært ofte (80–99 %) | I 2 tilstander |
| EMX2empty spiracles homeobox 2 | Svært ofte (80–99 %) | I 2 tilstander |
| GATA4GATA binding protein 4 | Svært ofte (80–99 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IL17RDinterleukin 17 receptor D | Svært ofte (80–99 %) | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Svært ofte (80–99 %) | I 2 tilstander |
| MADDMAP kinase activating death domain | Svært ofte (80–99 %) | I 2 tilstander |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NHLH2nescient helix-loop-helix 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PNPLA6patatin like domain 6, lysophospholipase | Svært ofte (80–99 %) | I 3 tilstander |
| SOX9SRY-box transcription factor 9 | Svært ofte (80–99 %) | I 3 tilstander |
| SRYsex determining region Y | Svært ofte (80–99 %) | I 2 tilstander |
| TCF12transcription factor 12 | Svært ofte (80–99 %) | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Svært ofte (80–99 %) | I 2 tilstander |
| VAMP7vesicle associated membrane protein 7 | Svært ofte (80–99 %) | I 1 tilstand |
| WT1WT1 transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Svært ofte (80–99 %) | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Svært 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 tilstander |
| 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 tilstander |
| 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 tilstander |
| MAMLD1mastermind like domain containing 1 | Ofte (30–79 %) | I 2 tilstander |
| 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 tilstander |
| 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 tilstander |
| 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 | Noen ganger (5–29 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Noen ganger (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| ARandrogen receptor | Noen ganger (5–29 %) | I 3 tilstander |
| ARMC9armadillo repeat containing 9 | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Noen ganger (5–29 %) | I 1 tilstand |
| CDH2cadherin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FKRPfukutin related protein | Noen ganger (5–29 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Noen ganger (5–29 %) | I 2 tilstander |
| GMPPBGDP-mannose pyrophosphorylase B | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM5Clysine demethylase 5C | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 1 tilstand |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LMX1BLIM homeobox transcription factor 1 beta | Noen ganger (5–29 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Noen ganger (5–29 %) | I 1 tilstand |
| LSSlanosterol synthase | Noen ganger (5–29 %) | I 1 tilstand |
| MEGF8multiple EGF like domains 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MID1midline 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MLXIPLMLX interacting protein like | Noen ganger (5–29 %) | I 1 tilstand |
| NEBnebulin | Noen ganger (5–29 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Noen ganger (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POMT2protein O-mannosyltransferase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| PORcytochrome p450 oxidoreductase | Noen ganger (5–29 %) | I 2 tilstander |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Noen ganger (5–29 %) | I 1 tilstand |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Aribonuclease H2 subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Noen ganger (5–29 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Noen ganger (5–29 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Noen ganger (5–29 %) | I 2 tilstander |
| RYR1ryanodine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Noen ganger (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBL1XR1TBL1X/Y related 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF4transcription factor 4 | Noen ganger (5–29 %) | I 2 tilstander |
| THOC2THO complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TREX1three prime repair exonuclease 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TWIST2twist family bHLH transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Noen ganger (5–29 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Noen ganger (5–29 %) | I 2 tilstander |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Sjelden (1–4%) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Sjelden (1–4%) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Sjelden (1–4%) | I 1 tilstand |
| DMXL2Dmx like 2 | Sjelden (1–4%) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Sjelden (1–4%) | I 2 tilstander |
| GNAO1G protein subunit alpha o1 | Sjelden (1–4%) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Sjelden (1–4%) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Sjelden (1–4%) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Sjelden (1–4%) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Sjelden (1–4%) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Sjelden (1–4%) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Sjelden (1–4%) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Sjelden (1–4%) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Sjelden (1–4%) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Sjelden (1–4%) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Sjelden (1–4%) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjelden (1–4%) | I 2 tilstander |
| SIK1salt inducible kinase 1 | Sjelden (1–4%) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Sjelden (1–4%) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Sjelden (1–4%) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Sjelden (1–4%) | I 1 tilstand |
| ZEB2zinc finger E-box binding homeobox 2 | Sjelden (1–4%) | I 2 tilstander |
| ACTBactin beta | Ikke registrert | I 1 tilstand |
| ARL6ARF like GTPase 6 | Ikke registrert | I 1 tilstand |
| ATAD3AATPase family AAA domain containing 3A | Ikke registrert | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registrert | I 2 tilstander |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ikke registrert | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Ikke registrert | I 1 tilstand |
| BLTP1bridge-like lipid transfer protein family member 1 | Ikke registrert | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registrert | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Ikke registrert | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ikke registrert | I 1 tilstand |
| CEP41centrosomal protein 41 | Ikke registrert | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Ikke registrert | I 1 tilstand |
| CUL4Bcullin 4B | Ikke registrert | I 1 tilstand |
| DCXdoublecortin | Ikke registrert | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ikke registrert | I 1 tilstand |
| DHODHdihydroorotate dehydrogenase (quinone) | Ikke registrert | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Ikke registrert | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Ikke registrert | I 1 tilstand |
| FZD2frizzled class receptor 2 | Ikke registrert | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Ikke registrert | I 2 tilstander |
| HCCSholocytochrome c synthase | Ikke registrert | I 1 tilstand |
| HDAC8histone deacetylase 8 | Ikke registrert | I 1 tilstand |
| HOXA13homeobox A13 | Ikke registrert | I 1 tilstand |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registrert | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ikke registrert | I 1 tilstand |
| KATNIPkatanin interacting protein | Ikke registrert | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ikke registrert | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ikke registrert | I 1 tilstand |
| LEPleptin | Ikke registrert | I 1 tilstand |
| LHBluteinizing hormone subunit beta | Ikke registrert | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Ikke registrert | I 1 tilstand |
| OPHN1oligophrenin 1 | Ikke registrert | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Ikke registrert | I 1 tilstand |
| PBX1PBX homeobox 1 | Ikke registrert | I 1 tilstand |
| PHF6PHD finger protein 6 | Ikke registrert | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ikke registrert | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ikke registrert | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Ikke registrert | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registrert | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Ikke registrert | I 1 tilstand |
| SGPL1sphingosine-1-phosphate lyase 1 | Ikke registrert | I 1 tilstand |
| SIX6SIX homeobox 6 | Ikke registrert | I 1 tilstand |
| SLC25A24solute carrier family 25 member 24 | Ikke registrert | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Ikke registrert | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Ikke registrert | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Ikke registrert | I 1 tilstand |
| SRD5A2steroid 5 alpha-reductase 2 | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TBCEtubulin folding cofactor E | Ikke registrert | I 1 tilstand |
| TP63tumor protein p63 | Ikke registrert | I 2 tilstander |
| UBA1ubiquitin like modifier activating enzyme 1 | Ikke registrert | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Ikke registrert | I 1 tilstand |
| WNT5AWnt family member 5A | Ikke registrert | I 1 tilstand |
| XRCC4X-ray repair cross complementing 4 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker