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Merkmal
Short penis
Klinische Bezeichnung: 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.
Zusammenfassung
- Auch genannt
- Small penis
- Körpersystem
- Abnormality of the genitourinary system
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Diese Seite als Daten
Hängen Sie .json an die Adresse der Seite an oder fordern Sie application/json an, um sie als JSON zu lesen.
library(jsonlite)
url <- "https://dantelabs.com/traits/micropenis.json"
page <- fromJSON(url)
page$trait$nameShort penisHP:0000054
AtlasFür wen wir da sindUnsere WissenschaftProdukteErgebnisse
AnmeldenFragenIhr Genom sequenzieren↗
Lesen Sie die Gene aus, die mit Short penis zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen
Meinen Genome Test bestellen82 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Hypogonadotropic HypogonadismReads 29 of these genesANOS1CHD7FEZF1FGF17FGF8FGFR1About this report →
- Aicardi-Goutieres SyndromeReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 10 of these genesDHX37GATA4MAP3K1NR5A1SRYWT1About this report →
- Intellectual DisabilityReads 33 of these genesCHD4KLHL15WDR11EIF2S3UBE2AAHDC1About this report →
Show 78 more reports
- Epilepsy (Full Panel)Reads 28 of these genesWWOXARXATP6V1AHID1LMNB2GRIA3About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 9 of these genesERCC2OTX2RAB3GAP2TBC1D20RAB18COX7BAbout this report →
- Congenital MyopathiesReads 7 of these genesMTM1ACTA1KLHL40KLHL41LMOD3NEBAbout this report →
- Bardet-Biedl and Alström SyndromesReads 7 of these genesBBS2BBS5LZTFL1IFT172ALMS1ARL6About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Joubert Syndrome And Related DisordersReads 8 of these genesB9D2INPP5EKIAA0586ARMC9KIF7TOGARAM1About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 6 of these genesGH1OTX2HESX1GLI3GLI2SMOAbout this report →
- Congenital Adrenal HyperplasiaReads 3 of these genesCYP17A1HSD3B2PORAbout this report →
- Congenital Muscular DystrophiesReads 6 of these genesFKRPGMPPBLARGE1POMT1POMT2B4GAT1About this report →
- Syndromic CraniosynostosisReads 5 of these genesFGFR1TCF12MEGF8PORSMOAbout this report →
- Congenital Disorders of GlycosylationReads 10 of these genesALG12DHDDSEXT2STT3ACOG5FKRPAbout this report →
- 46,XX Differences of Sex DevelopmentReads 2 of these genesNR5A1SRYAbout this report →
- Hereditary Episodic AtaxiasReads 2 of these genesKCNA1SCN2AAbout this report →
- Androgen Insensitivity SyndromeReads 1 of these genesARAbout this report →
- CHARGE SyndromeReads 1 of these genesCHD7About this report →
- Dyschromatosis Symmetrica HereditariaReads 1 of these genesADARAbout this report →
- Hereditary HypospadiasReads 1 of these genesMAMLD1About this report →
- Johanson-Blizzard SyndromeReads 1 of these genesUBR1About this report →
- Mowat-Wilson SyndromeReads 1 of these genesZEB2About this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- Spinal and Bulbar Muscular Atrophy (Kennedy Disease)Reads 1 of these genesARAbout this report →
- DNA Repair DiseaseReads 6 of these genesERCC2ERCC6FANCLFANCBFANCD2ERCC8About this report →
- Other Inherited LeukodystrophiesReads 8 of these genesADARIFIH1RNASEH2ARNASEH2BRNASEH2CRNU7-1About this report →
- Hypertrophic CardiomyopathyReads 7 of these genesDHX37MAP3K1NR5A1SRYZFPM2CDKN1CAbout this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 2 of these genesSIM1LEPAbout this report →
- Cutis LaxaReads 3 of these genesATP6V1AATP6V1E1ELNAbout this report →
- Fanconi AnemiaReads 3 of these genesFANCLFANCBFANCD2About this report →
- Hereditary Multiple OsteochondromasReads 1 of these genesEXT2About this report →
- Hereditary Wilms TumourReads 1 of these genesWT1About this report →
- Malignant Hyperthermia SusceptibilityReads 1 of these genesRYR1About this report →
- Other Inborn Errors of ImmunityReads 10 of these genesLIG4ADARIFIH1PRKDCRNASEH2ARNASEH2BAbout this report →
- GPI Anchor Biosynthesis DefectsReads 3 of these genesPIGPPIGQPIGAAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 4 of these genesDCAF17VAC14PNKPACTBAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesMAGEL2CDKN1CAbout this report →
- Type I InterferonopathiesReads 2 of these genesIFIH1TREX1About this report →
- Congenital Diaphragmatic Hernia (Monogenic)Reads 1 of these genesZFPM2About this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Monogenic Precocious PubertyReads 1 of these genesMKRN3About this report →
- Tetralogy of FallotReads 1 of these genesZFPM2About this report →
- Inherited Congenital Heart DefectsReads 2 of these genesGATA4ELNAbout this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 4 of these genesWWOXKIAA0586PNKPCEP41About this report →
- Congenital Dyserythropoietic AnaemiasReads 1 of these genesKLF1About this report →
- Moyamoya DiseaseReads 1 of these genesSAMHD1About this report →
- Retinitis PigmentosaReads 4 of these genesBBS2DHDDSIFT172ARL6About this report →
- Hereditary Methaemoglobinaemia and Unstable HaemoglobinsReads 1 of these genesCYB5AAbout this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesBUB1BAbout this report →
- Cornelia de Lange SyndromeReads 1 of these genesHDAC8About this report →
- Systemic Lupus ErythematosusReads 1 of these genesTREX1About this report →
- Colorectal Cancer & PolyposisReads 1 of these genesPOLEAbout this report →
- Waardenburg SyndromeReads 1 of these genesSOX10About this report →
- Nephrotic SyndromeReads 2 of these genesLAMA5SGPL1About this report →
- Diabetes MellitusReads 2 of these genesEIF2S3GATA4About this report →
- Severe Combined ImmunodeficiencyReads 2 of these genesLIG4PRKDCAbout this report →
- Familial Glucocorticoid DeficiencyReads 1 of these genesNR0B1About this report →
- Limb-Girdle Muscular DystrophyReads 2 of these genesFKRPGMPPBAbout this report →
- Hereditary Macular DystrophiesReads 1 of these genesPRDM13About this report →
- Meckel SyndromeReads 1 of these genesB9D2About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesDCAF17About this report →
- Arrhythmogenic CardiomyopathyReads 1 of these genesCDH2About this report →
- Myofibrillar MyopathiesReads 1 of these genesRYR1About this report →
- Female InfertilityReads 2 of these genesNR5A1TP63About this report →
- Hereditary Hypotrichosis, Woolly Hair and MonilethrixReads 1 of these genesLSSAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesFAT4About this report →
- Ectodermal DysplasiasReads 1 of these genesTP63About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesTCF4About this report →
- Neonatal Diabetes MellitusReads 1 of these genesGATA4About this report →
- Autoimmune DiseaseReads 1 of these genesTREX1About this report →
- Noonan SyndromeReads 1 of these genesPTPN11About this report →
- Hereditary Congenital & Juvenile CataractReads 1 of these genesLSSAbout this report →
- Congenital Myasthenic SyndromeReads 1 of these genesGMPPBAbout this report →
- Spinal Muscular AtrophyReads 1 of these genesUBA1About this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Inherited ThrombocytopeniasReads 1 of these genesACTBAbout this report →
- Osteogenesis ImperfectaReads 1 of these genesIFIH1About this report →
- Primary Mitochondrial DiseaseReads 2 of these genesDNA2NDUFB11About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesPNPLA6About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesFIG4About this report →
Lesen Sie die Gene aus, die mit Short penis zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen
Meinen Genome Test bestellen297 Gene mit Short penis verknüpft
Veränderungen in diesen Genen verursachen seltene Erkrankungen, bei denen Short penis auftritt. Die meisten Menschen mit diesem Merkmal haben keine dieser Erkrankungen, und ein Gen auf dieser Liste sagt nichts über das eigene Genom einer Person aus.
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| ALG12ALG12 alpha-1,6-mannosyltransferase | Immer | In 2 Erkrankungen |
| ANOS1anosmin 1 | Immer | In 3 Erkrankungen |
| AXLAXL receptor tyrosine kinase | Immer | In 1 Erkrankung |
| B9D2B9 domain containing 2 | Immer | In 1 Erkrankung |
| BBS2Bardet-Biedl syndrome 2 | Immer | In 1 Erkrankung |
| BBS5Bardet-Biedl syndrome 5 | Immer | In 1 Erkrankung |
| C2CD3C2 domain containing 3 centriole elongation regulator | Immer | In 1 Erkrankung |
| CCDC141coiled-coil domain containing 141 | Immer | In 2 Erkrankungen |
| CDC6cell division cycle 6 | Immer | In 1 Erkrankung |
| CENPTcentromere protein T | Immer | In 1 Erkrankung |
| CHD4chromodomain helicase DNA binding protein 4 | Immer | In 1 Erkrankung |
| CHD7chromodomain helicase DNA binding protein 7 | Immer | In 5 Erkrankungen |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Immer | In 2 Erkrankungen |
| DNA2DNA replication helicase/nuclease 2 | Immer | In 1 Erkrankung |
| DONSONDNA replication fork stabilization factor DONSON | Immer | In 1 Erkrankung |
| DUSP6dual specificity phosphatase 6 | Immer | In 3 Erkrankungen |
| DVL1dishevelled segment polarity protein 1 | Immer | In 2 Erkrankungen |
| DVL3dishevelled segment polarity protein 3 | Immer | In 1 Erkrankung |
| EBF3EBF transcription factor 3 | Immer | In 1 Erkrankung |
| ECE1endothelin converting enzyme 1 | Immer | In 1 Erkrankung |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Immer | In 1 Erkrankung |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Immer | In 1 Erkrankung |
| FANCLFA complementation group L | Immer | In 1 Erkrankung |
| FAT4FAT atypical cadherin 4 | Immer | In 1 Erkrankung |
| FEZF1FEZ family zinc finger 1 | Immer | In 3 Erkrankungen |
| FGF17fibroblast growth factor 17 | Immer | In 3 Erkrankungen |
| FGF8fibroblast growth factor 8 | Immer | In 4 Erkrankungen |
| FGFR1fibroblast growth factor receptor 1 | Immer | In 5 Erkrankungen |
| FLRT3fibronectin leucine rich transmembrane protein 3 | Immer | In 2 Erkrankungen |
| GH1growth hormone 1 | Immer | In 1 Erkrankung |
| GNRH1gonadotropin releasing hormone 1 | Immer | In 3 Erkrankungen |
| GNRHRgonadotropin releasing hormone receptor | Immer | In 2 Erkrankungen |
| H4C9H4 clustered histone 9 | Immer | In 1 Erkrankung |
| HS6ST1heparan sulfate 6-O-sulfotransferase 1 | Immer | In 4 Erkrankungen |
| HYAL2hyaluronidase 2 | Immer | In 1 Erkrankung |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Immer | In 1 Erkrankung |
| INTUinturned planar cell polarity protein | Immer | In 2 Erkrankungen |
| JKAMPJNK1/MAPK8 associated membrane protein | Immer | In 1 Erkrankung |
| KISS1KiSS-1 metastasis suppressor | Immer | In 2 Erkrankungen |
| KISS1RKISS1 receptor | Immer | In 3 Erkrankungen |
257 weitere Gene anzeigen
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| KLHL15kelch like family member 15 | Immer | In 1 Erkrankung |
| LAMA5laminin subunit alpha 5 | Immer | In 1 Erkrankung |
| LIG4DNA ligase 4 | Immer | In 1 Erkrankung |
| LZTFL1leucine zipper transcription factor like 1 | Immer | In 1 Erkrankung |
| NDNFneuron derived neurotrophic factor | Immer | In 2 Erkrankungen |
| NSMFNMDA receptor synaptonuclear signaling and neuronal migration factor | Immer | In 3 Erkrankungen |
| OTX2orthodenticle homeobox 2 | Immer | In 1 Erkrankung |
| PRDM13PR/SET domain 13 | Immer | In 1 Erkrankung |
| PROK2prokineticin 2 | Immer | In 4 Erkrankungen |
| PROKR2prokineticin receptor 2 | Immer | In 4 Erkrankungen |
| PSMC1proteasome 26S subunit, ATPase 1 | Immer | In 1 Erkrankung |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Immer | In 2 Erkrankungen |
| RIPK4receptor interacting serine/threonine kinase 4 | Immer | In 1 Erkrankung |
| RNF113Aring finger protein 113A | Immer | In 1 Erkrankung |
| ROR2ROR family WNT receptor 2 | Immer | In 2 Erkrankungen |
| SEMA3Asemaphorin 3A | Immer | In 3 Erkrankungen |
| SEMA3Esemaphorin 3E | Immer | In 2 Erkrankungen |
| SGSM3small G protein signaling modulator 3 | Immer | In 1 Erkrankung |
| SLC30A7solute carrier family 30 member 7 | Immer | In 1 Erkrankung |
| SOX10SRY-box transcription factor 10 | Immer | In 2 Erkrankungen |
| SPRY4sprouty RTK signaling antagonist 4 | Immer | In 3 Erkrankungen |
| SRA1steroid receptor RNA activator 1 | Immer | In 1 Erkrankung |
| STT3BSTT3 oligosaccharyltransferase complex catalytic subunit B | Immer | In 2 Erkrankungen |
| TAC3tachykinin precursor 3 | Immer | In 2 Erkrankungen |
| TACR3tachykinin receptor 3 | Immer | In 4 Erkrankungen |
| TBC1D20TBC1 domain family member 20 | Immer | In 1 Erkrankung |
| TBC1D32TBC1 domain family member 32 | Immer | In 1 Erkrankung |
| TBX3T-box transcription factor 3 | Immer | In 1 Erkrankung |
| TOP2BDNA topoisomerase II beta | Immer | In 1 Erkrankung |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Immer | In 1 Erkrankung |
| WDR11WD repeat domain 11 | Immer | In 3 Erkrankungen |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Immer | In 1 Erkrankung |
| ZPR1ZPR1 zinc finger | Immer | In 1 Erkrankung |
| CDH11cadherin 11 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CYB5Acytochrome b5 type A | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| DCAF17DDB1 and CUL4 associated factor 17 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| DCCDCC netrin 1 receptor | Sehr häufig (80–99 %) | In 1 Erkrankung |
| DHX37DEAH-box helicase 37 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| EMX2empty spiracles homeobox 2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| GATA4GATA binding protein 4 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| HESX1HESX homeobox 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| IL17RDinterleukin 17 receptor D | Sehr häufig (80–99 %) | In 1 Erkrankung |
| INPP5Einositol polyphosphate-5-phosphatase E | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MADDMAP kinase activating death domain | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NHLH2nescient helix-loop-helix 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NR0B1nuclear receptor subfamily 0 group B member 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| PNPLA6patatin like domain 6, lysophospholipase | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| SOX9SRY-box transcription factor 9 | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| SRYsex determining region Y | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| TCF12transcription factor 12 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| UBE2Aubiquitin conjugating enzyme E2 A | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| VAMP7vesicle associated membrane protein 7 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| WT1WT1 transcription factor | Sehr häufig (80–99 %) | In 1 Erkrankung |
| WWOXWW domain containing oxidoreductase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ZFPM2zinc finger protein, FOG family member 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| AHDC1AT-hook DNA binding motif containing 1 | Häufig (30–79 %) | In 1 Erkrankung |
| ALX4ALX homeobox 4 | Häufig (30–79 %) | In 1 Erkrankung |
| ARCN1archain 1 coat protein complex I subunit delta | Häufig (30–79 %) | In 1 Erkrankung |
| ARXaristaless related homeobox | Häufig (30–79 %) | In 3 Erkrankungen |
| ATP6V1AATPase H+ transporting V1 subunit A | Häufig (30–79 %) | In 1 Erkrankung |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Häufig (30–79 %) | In 1 Erkrankung |
| COLEC10collectin subfamily member 10 | Häufig (30–79 %) | In 1 Erkrankung |
| CPEcarboxypeptidase E | Häufig (30–79 %) | In 1 Erkrankung |
| CTU2cytosolic thiouridylase subunit 2 | Häufig (30–79 %) | In 1 Erkrankung |
| DDX6DEAD-box helicase 6 | Häufig (30–79 %) | In 1 Erkrankung |
| DPYSL5dihydropyrimidinase like 5 | Häufig (30–79 %) | In 1 Erkrankung |
| DTYMKdeoxythymidylate kinase | Häufig (30–79 %) | In 1 Erkrankung |
| EHMT1euchromatic histone lysine methyltransferase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| EXT2exostosin glycosyltransferase 2 | Häufig (30–79 %) | In 1 Erkrankung |
| FAM111AFAM111 trypsin like peptidase A | Häufig (30–79 %) | In 1 Erkrankung |
| FANCBFA complementation group B | Häufig (30–79 %) | In 1 Erkrankung |
| FBXO22F-box protein 22 | Häufig (30–79 %) | In 1 Erkrankung |
| FIG4FIG4 phosphoinositide 5-phosphatase | Häufig (30–79 %) | In 2 Erkrankungen |
| FILIP1filamin A interacting protein 1 | Häufig (30–79 %) | In 1 Erkrankung |
| GLYCTKglycerate kinase | Häufig (30–79 %) | In 1 Erkrankung |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Häufig (30–79 %) | In 1 Erkrankung |
| HID1HID1 domain containing | Häufig (30–79 %) | In 1 Erkrankung |
| HNRNPRheterogeneous nuclear ribonucleoprotein R | Häufig (30–79 %) | In 1 Erkrankung |
| IFT172intraflagellar transport 172 | Häufig (30–79 %) | In 1 Erkrankung |
| KIAA0586KIAA0586 | Häufig (30–79 %) | In 1 Erkrankung |
| KLF1KLF transcription factor 1 | Häufig (30–79 %) | In 1 Erkrankung |
| LMNB2lamin B2 | Häufig (30–79 %) | In 1 Erkrankung |
| MAGEL2MAGE family member L2 | Häufig (30–79 %) | In 3 Erkrankungen |
| MAMLD1mastermind like domain containing 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| MBD5methyl-CpG binding domain protein 5 | Häufig (30–79 %) | In 1 Erkrankung |
| MCTP2multiple C2 and transmembrane domain containing 2 | Häufig (30–79 %) | In 1 Erkrankung |
| MED12mediator complex subunit 12 | Häufig (30–79 %) | In 1 Erkrankung |
| MKRN3makorin ring finger protein 3 | Häufig (30–79 %) | In 1 Erkrankung |
| MTM1myotubularin 1 | Häufig (30–79 %) | In 1 Erkrankung |
| MYRFmyelin regulatory factor | Häufig (30–79 %) | In 1 Erkrankung |
| NPAP1nuclear pore associated protein 1 | Häufig (30–79 %) | In 1 Erkrankung |
| ORC1origin recognition complex subunit 1 | Häufig (30–79 %) | In 1 Erkrankung |
| OTUD5OTU deubiquitinase 5 | Häufig (30–79 %) | In 1 Erkrankung |
| PHF21APHD finger protein 21A | Häufig (30–79 %) | In 1 Erkrankung |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Häufig (30–79 %) | In 1 Erkrankung |
| PWAR1Prader Willi/Angelman region RNA 1 | Häufig (30–79 %) | In 1 Erkrankung |
| PWRN1Prader-Willi region non-protein coding RNA 1 | Häufig (30–79 %) | In 1 Erkrankung |
| RAB18RAB18, member RAS oncogene family | Häufig (30–79 %) | In 1 Erkrankung |
| RSPO2R-spondin 2 | Häufig (30–79 %) | In 1 Erkrankung |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Häufig (30–79 %) | In 1 Erkrankung |
| SLC29A3solute carrier family 29 member 3 | Häufig (30–79 %) | In 2 Erkrankungen |
| SNORD115-1small nucleolar RNA, C/D box 115-1 | Häufig (30–79 %) | In 1 Erkrankung |
| SNORD116-1small nucleolar RNA, C/D box 116-1 | Häufig (30–79 %) | In 1 Erkrankung |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Häufig (30–79 %) | In 1 Erkrankung |
| TOE1target of EGR1, exonuclease | Häufig (30–79 %) | In 2 Erkrankungen |
| VAC14VAC14 component of PIKFYVE complex | Häufig (30–79 %) | In 1 Erkrankung |
| ZRSR2zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | Häufig (30–79 %) | In 1 Erkrankung |
| ZSCAN10zinc finger and SCAN domain containing 10 | Häufig (30–79 %) | In 1 Erkrankung |
| ACTA1actin alpha 1, skeletal muscle | Manchmal (5–29 %) | In 1 Erkrankung |
| ADARadenosine deaminase RNA specific | Manchmal (5–29 %) | In 1 Erkrankung |
| ADAT3adenosine deaminase tRNA specific 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| ALKBH8alkB homolog 8, tRNA methyltransferase | Manchmal (5–29 %) | In 1 Erkrankung |
| ALMS1ALMS1 centrosome and basal body associated protein | Manchmal (5–29 %) | In 1 Erkrankung |
| ARandrogen receptor | Manchmal (5–29 %) | In 3 Erkrankungen |
| ARMC9armadillo repeat containing 9 | Manchmal (5–29 %) | In 1 Erkrankung |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Manchmal (5–29 %) | In 1 Erkrankung |
| CDC42BPBCDC42 binding protein kinase beta | Manchmal (5–29 %) | In 1 Erkrankung |
| CDC45cell division cycle 45 | Manchmal (5–29 %) | In 1 Erkrankung |
| CDH2cadherin 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| COG5component of oligomeric golgi complex 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| DOT1LDOT1 like histone lysine methyltransferase | Manchmal (5–29 %) | In 1 Erkrankung |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| ELNelastin | Manchmal (5–29 %) | In 1 Erkrankung |
| FANCD2FA complementation group D2 | Manchmal (5–29 %) | In 1 Erkrankung |
| FKRPfukutin related protein | Manchmal (5–29 %) | In 1 Erkrankung |
| GLI3GLI family zinc finger 3 | Manchmal (5–29 %) | In 2 Erkrankungen |
| GMPPBGDP-mannose pyrophosphorylase B | Manchmal (5–29 %) | In 1 Erkrankung |
| GNB2G protein subunit beta 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| IFIH1interferon induced with helicase C domain 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| KDM5Clysine demethylase 5C | Manchmal (5–29 %) | In 1 Erkrankung |
| KIAA0753KIAA0753 | Manchmal (5–29 %) | In 1 Erkrankung |
| KIF7kinesin family member 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| KLHL40kelch like family member 40 | Manchmal (5–29 %) | In 1 Erkrankung |
| KLHL41kelch like family member 41 | Manchmal (5–29 %) | In 1 Erkrankung |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| LMOD3leiomodin 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| LMX1BLIM homeobox transcription factor 1 beta | Manchmal (5–29 %) | In 1 Erkrankung |
| LSM11LSM11, U7 small nuclear RNA associated | Manchmal (5–29 %) | In 1 Erkrankung |
| LSSlanosterol synthase | Manchmal (5–29 %) | In 1 Erkrankung |
| MEGF8multiple EGF like domains 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| MID1midline 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MLXIPLMLX interacting protein like | Manchmal (5–29 %) | In 1 Erkrankung |
| NEBnebulin | Manchmal (5–29 %) | In 1 Erkrankung |
| NEK1NIMA related kinase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| POGZpogo transposable element derived with ZNF domain | Manchmal (5–29 %) | In 1 Erkrankung |
| POMT1protein O-mannosyltransferase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| POMT2protein O-mannosyltransferase 2 | Manchmal (5–29 %) | In 2 Erkrankungen |
| PORcytochrome p450 oxidoreductase | Manchmal (5–29 %) | In 2 Erkrankungen |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Manchmal (5–29 %) | In 1 Erkrankung |
| PRKDCprotein kinase, DNA-activated, catalytic subunit | Manchmal (5–29 %) | In 1 Erkrankung |
| RNASEH2Aribonuclease H2 subunit A | Manchmal (5–29 %) | In 1 Erkrankung |
| RNASEH2Bribonuclease H2 subunit B | Manchmal (5–29 %) | In 1 Erkrankung |
| RNASEH2Cribonuclease H2 subunit C | Manchmal (5–29 %) | In 1 Erkrankung |
| RNU7-1RNA, U7 small nuclear 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| RYR1ryanodine receptor 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SATB2SATB homeobox 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| SIM1SIM bHLH transcription factor 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SRRM2serine/arginine repetitive matrix 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| STXBP1syntaxin binding protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| TBL1XR1TBL1X/Y related 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| TCF4transcription factor 4 | Manchmal (5–29 %) | In 2 Erkrankungen |
| THOC2THO complex subunit 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| THOC6THO complex subunit 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| TREX1three prime repair exonuclease 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| TWIST2twist family bHLH transcription factor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| UBR7ubiquitin protein ligase E3 component n-recognin 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| USP7ubiquitin specific peptidase 7 | Manchmal (5–29 %) | In 2 Erkrankungen |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Selten (1–4 %) | In 1 Erkrankung |
| CASKcalcium/calmodulin dependent serine protein kinase | Selten (1–4 %) | In 1 Erkrankung |
| CDKL5cyclin dependent kinase like 5 | Selten (1–4 %) | In 1 Erkrankung |
| DMXL2Dmx like 2 | Selten (1–4 %) | In 1 Erkrankung |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Selten (1–4 %) | In 2 Erkrankungen |
| GNAO1G protein subunit alpha o1 | Selten (1–4 %) | In 1 Erkrankung |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Selten (1–4 %) | In 1 Erkrankung |
| GRM7glutamate metabotropic receptor 7 | Selten (1–4 %) | In 1 Erkrankung |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Selten (1–4 %) | In 1 Erkrankung |
| LGI1leucine rich glioma inactivated 1 | Selten (1–4 %) | In 1 Erkrankung |
| MYT1Lmyelin transcription factor 1 like | Selten (1–4 %) | In 1 Erkrankung |
| NEUROD2neuronal differentiation 2 | Selten (1–4 %) | In 1 Erkrankung |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Selten (1–4 %) | In 1 Erkrankung |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Selten (1–4 %) | In 1 Erkrankung |
| PNKPpolynucleotide kinase 3'-phosphatase | Selten (1–4 %) | In 1 Erkrankung |
| POLEDNA polymerase epsilon, catalytic subunit | Selten (1–4 %) | In 1 Erkrankung |
| RHOBTB2Rho related BTB domain containing 2 | Selten (1–4 %) | In 1 Erkrankung |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Selten (1–4 %) | In 1 Erkrankung |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Selten (1–4 %) | In 1 Erkrankung |
| SETBP1SET binding protein 1 | Selten (1–4 %) | In 2 Erkrankungen |
| SIK1salt inducible kinase 1 | Selten (1–4 %) | In 1 Erkrankung |
| SLC25A22solute carrier family 25 member 22 | Selten (1–4 %) | In 1 Erkrankung |
| SLC32A1solute carrier family 32 member 1 | Selten (1–4 %) | In 1 Erkrankung |
| SPTBN1spectrin beta, non-erythrocytic 1 | Selten (1–4 %) | In 1 Erkrankung |
| TRIM8tripartite motif containing 8 | Selten (1–4 %) | In 1 Erkrankung |
| ZEB2zinc finger E-box binding homeobox 2 | Selten (1–4 %) | In 2 Erkrankungen |
| ACTBactin beta | Nicht erfasst | In 1 Erkrankung |
| ARL6ARF like GTPase 6 | Nicht erfasst | In 1 Erkrankung |
| ATAD3AATPase family AAA domain containing 3A | Nicht erfasst | In 1 Erkrankung |
| ATRXATRX chromatin remodeler | Nicht erfasst | In 2 Erkrankungen |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Nicht erfasst | In 1 Erkrankung |
| BBS1Bardet-Biedl syndrome 1 | Nicht erfasst | In 1 Erkrankung |
| BLTP1bridge-like lipid transfer protein family member 1 | Nicht erfasst | In 1 Erkrankung |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Nicht erfasst | In 1 Erkrankung |
| CCDC28Bcoiled-coil domain containing 28B | Nicht erfasst | In 1 Erkrankung |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Nicht erfasst | In 1 Erkrankung |
| CEP41centrosomal protein 41 | Nicht erfasst | In 1 Erkrankung |
| COX7Bcytochrome c oxidase subunit 7B | Nicht erfasst | In 1 Erkrankung |
| CUL4Bcullin 4B | Nicht erfasst | In 1 Erkrankung |
| DCXdoublecortin | Nicht erfasst | In 1 Erkrankung |
| DHCR77-dehydrocholesterol reductase | Nicht erfasst | In 1 Erkrankung |
| DHODHdihydroorotate dehydrogenase (quinone) | Nicht erfasst | In 1 Erkrankung |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Nicht erfasst | In 1 Erkrankung |
| FRAS1Fraser extracellular matrix complex subunit 1 | Nicht erfasst | In 1 Erkrankung |
| FZD2frizzled class receptor 2 | Nicht erfasst | In 1 Erkrankung |
| GLI2GLI family zinc finger 2 | Nicht erfasst | In 2 Erkrankungen |
| HCCSholocytochrome c synthase | Nicht erfasst | In 1 Erkrankung |
| HDAC8histone deacetylase 8 | Nicht erfasst | In 1 Erkrankung |
| HOXA13homeobox A13 | Nicht erfasst | In 1 Erkrankung |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Nicht erfasst | In 1 Erkrankung |
| KAT6Blysine acetyltransferase 6B | Nicht erfasst | In 1 Erkrankung |
| KATNIPkatanin interacting protein | Nicht erfasst | In 1 Erkrankung |
| KDM6Alysine demethylase 6A | Nicht erfasst | In 1 Erkrankung |
| KMT2Dlysine methyltransferase 2D | Nicht erfasst | In 1 Erkrankung |
| LEPleptin | Nicht erfasst | In 1 Erkrankung |
| LHBluteinizing hormone subunit beta | Nicht erfasst | In 1 Erkrankung |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Nicht erfasst | In 1 Erkrankung |
| OPHN1oligophrenin 1 | Nicht erfasst | In 1 Erkrankung |
| ORC6origin recognition complex subunit 6 | Nicht erfasst | In 1 Erkrankung |
| PBX1PBX homeobox 1 | Nicht erfasst | In 1 Erkrankung |
| PHF6PHD finger protein 6 | Nicht erfasst | In 1 Erkrankung |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nicht erfasst | In 1 Erkrankung |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Nicht erfasst | In 1 Erkrankung |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Nicht erfasst | In 1 Erkrankung |
| RLIMring finger protein, LIM domain interacting | Nicht erfasst | In 1 Erkrankung |
| RNU4ATACRNA, U4atac small nuclear | Nicht erfasst | In 1 Erkrankung |
| SGPL1sphingosine-1-phosphate lyase 1 | Nicht erfasst | In 1 Erkrankung |
| SIX6SIX homeobox 6 | Nicht erfasst | In 1 Erkrankung |
| SLC25A24solute carrier family 25 member 24 | Nicht erfasst | In 1 Erkrankung |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Nicht erfasst | In 1 Erkrankung |
| SMOsmoothened, frizzled class receptor | Nicht erfasst | In 1 Erkrankung |
| SOX2SRY-box transcription factor 2 | Nicht erfasst | In 1 Erkrankung |
| SRD5A2steroid 5 alpha-reductase 2 | Nicht erfasst | In 1 Erkrankung |
| TAPT1transmembrane anterior posterior transformation 1 | Nicht erfasst | In 1 Erkrankung |
| TBCEtubulin folding cofactor E | Nicht erfasst | In 1 Erkrankung |
| TP63tumor protein p63 | Nicht erfasst | In 2 Erkrankungen |
| UBA1ubiquitin like modifier activating enzyme 1 | Nicht erfasst | In 1 Erkrankung |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Nicht erfasst | In 1 Erkrankung |
| WNT5AWnt family member 5A | Nicht erfasst | In 1 Erkrankung |
| XRCC4X-ray repair cross complementing 4 | Nicht erfasst | In 1 Erkrankung |
Wie häufig dieses Merkmal bei Menschen mit einer der Erkrankungen auftritt, die mit dem Gen in Verbindung stehen, und zwar der höchste Wert unter ihnen, so wie ihn die Human Phenotype Ontology erfasst. Diese Seiten beschreiben Merkmale und die dazugehörige Forschung; sie stellen keine Diagnose dar. Fragen zu Symptomen richten Sie bitte an Ihre Ärztin, Ihren Arzt oder eine genetische Beratung.
Übergeordnete Merkmale
Woher diese Angaben stammen
- Die Human Phenotype Ontology, Version 2026-09-01: das Merkmal, seine Bezeichnungen, seine Definition und die damit verknüpften Gene. Weitere Informationen finden Sie unter hpo.jax.org.
- Datenstand 2026.10.17-8666dff2.
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