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Merkmal
IQ between 34 and 49
Klinische Bezeichnung: Moderate intellectual disability
Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.
Zusammenfassung
- Auch genannt
- Intellectual disability, moderate, Moderate mental deficiency
- Körpersystem
- Abnormality of the nervous 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/moderate-intellectual-disability.json"
page <- fromJSON(url)
page$trait$nameIQ between 34 and 49HP:0002342
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AnmeldenFragenIhr Genom sequenzieren↗
Lesen Sie die Gene aus, die mit IQ between 34 and 49 zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen
Meinen Genome Test bestellen87 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.
- Intellectual DisabilityReads 53 of these genesANK3CNKSR2FTSJ1HNRNPCIL1RAPL1KDM5BAbout this report →
- Coffin-Siris SyndromeReads 11 of these genesARID1AARID1BARID2DPF2SMARCA4SMARCB1About this report →
- GPI Anchor Biosynthesis DefectsReads 8 of these genesPIGAPGAP2PGAP3PIGLPIGOPIGVAbout this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 3 of these genesSMARCA4SMARCB1SMARCE1About this report →
Show 83 more reports
- Congenital Disorders of GlycosylationReads 15 of these genesCOG1EXT2MAN1B1PIGADPAGT1PGM3About this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 3 of these genesNFIXDNMT3ANSD1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 7 of these genesZBTB11AP1S2PAN2AFG2AMYT1LRNU4-2About this report →
- Epilepsy (Full Panel)Reads 20 of these genesCNKSR2DMXL2FTSJ1GABRA1IL1RAPL1PIGAAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 3 of these genesMAGEL2NSD1SNRPNAbout this report →
- ADCY5-Related DyskinesiaReads 1 of these genesADCY5About this report →
- Au-Kline SyndromeReads 1 of these genesHNRNPKAbout this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- CWC27-Related Retinitis Pigmentosa with Skeletal AnomaliesReads 1 of these genesCWC27About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- Elsahy-Waters SyndromeReads 1 of these genesCDH11About this report →
- FAT4-Related Neurodevelopmental DisorderReads 1 of these genesFAT4About this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Floating-Harbor SyndromeReads 1 of these genesSRCAPAbout this report →
- Fragile X SyndromeReads 1 of these genesFMR1About this report →
- Frontonasal Dysplasia with Alopecia and Genital Anomaly (ALX4)Reads 1 of these genesALX4About this report →
- Jaberi-Elahi SyndromeReads 1 of these genesGTPBP2About this report →
- KIF5A-Related Amyotrophic Lateral SclerosisReads 1 of these genesKIF5AAbout this report →
- L1 SyndromeReads 1 of these genesL1CAMAbout this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- MEND SyndromeReads 1 of these genesEBPAbout this report →
- Otofaciocervical Syndrome Type 2 (PAX1)Reads 1 of these genesPAX1About this report →
- P5CS Deficiency (ALDH18A1-Related)Reads 1 of these genesALDH18A1About this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- POLR3B-Related DisorderReads 1 of these genesPOLR3BAbout this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- RTTN-Related Microcephalic Primordial DwarfismReads 1 of these genesRTTNAbout this report →
- Stankiewicz-Isidor SyndromeReads 1 of these genesPSMD12About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- Autosomal Recessive Primary MicrocephalyReads 4 of these genesCDK5RAP2CPAPNCAPD2WDR62About this report →
- Inherited Neurodegenerative DisordersReads 18 of these genesALDH18A1DARS2FLVCR1FMR1ITPR1CC2D2AAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 5 of these genesSLC2A1TAF1WARS2TOR1AVPS16About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 4 of these genesHYCC1PLP1POLR3APOLR3BAbout this report →
- Purine & Pyrimidine Metabolism DisordersReads 2 of these genesHPRT1PRPS1About this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 1 of these genesAKT1About this report →
- CystinuriaReads 1 of these genesSLC3A1About this report →
- Enlarged Parietal Foramina (MSX2)Reads 1 of these genesALX4About this report →
- Hereditary Multiple OsteochondromasReads 1 of these genesEXT2About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 5 of these genesFLVCR1CC2D2ATMEM67COQ8ACWF19L1About this report →
- Joubert Syndrome And Related DisordersReads 4 of these genesINPP5ECC2D2ARPGRIP1LTMEM67About this report →
- Meckel SyndromeReads 2 of these genesRPGRIP1LTMEM67About this report →
- Lissencephaly Spectrum DisordersReads 3 of these genesARXPSPHAPC2About this report →
- Syndromic CraniosynostosisReads 3 of these genesFGFR2FGFR3TWIST1About this report →
- Hereditary Spastic ParaplegiaReads 5 of these genesALDH18A1L1CAMPLP1KIF5AENTPD1About this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesRNU4ATACAbout this report →
- Thyroid Hormone Resistance, Transport & Metabolism DefectsReads 1 of these genesSLC16A2About this report →
- Other Inherited LeukodystrophiesReads 5 of these genesDARS2HYCC1PLP1POLR3APOLR3BAbout this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesSOX11About this report →
- NeurofibromatosisReads 1 of these genesSMARCB1About this report →
- Rare Hereditary Peripheral NeuropathiesReads 7 of these genesCOQ4NDUFAF5SARS1COQ8APRPS1DHX9About this report →
- Primary Mitochondrial DiseaseReads 5 of these genesCOQ4NDUFAF1NDUFAF5TMEM70COQ8AAbout this report →
- Congenital Myasthenic SyndromeReads 2 of these genesPREPLDPAGT1About this report →
- Classic Organic AciduriasReads 1 of these genesHMGCLAbout this report →
- Disorders of Glycine & Serine MetabolismReads 1 of these genesPSPHAbout this report →
- Oculocutaneous AlbinismReads 1 of these genesOCA2About this report →
- Osteogenesis ImperfectaReads 2 of these genesPOLR3ACOL1A2About this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesPRPS1DHX9POLR3BAbout this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 2 of these genesITPR1TGM6About this report →
- Anterior Segment Dysgenesis, Axenfeld-Rieger Syndrome & AniridiaReads 1 of these genesITPR1About this report →
- Autism Spectrum DisorderReads 1 of these genesCHD8About this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 1 of these genesXYLT1About this report →
- HyperinsulinismReads 1 of these genesGLUD1About this report →
- Urea Cycle DisorderReads 1 of these genesGLUD1About this report →
- Hypogonadotropic HypogonadismReads 2 of these genesMAGEL2SNRPNAbout this report →
- Methylmalonic & Propionic AcidemiaReads 1 of these genesMMADHCAbout this report →
- Complex Cortical Dysplasia and Frontoparietal PolymicrogyriaReads 1 of these genesAPC2About this report →
- Cutis LaxaReads 1 of these genesALDH18A1About this report →
- Fatty Acid Oxidation & Carnitine Cycle DisordersReads 1 of these genesHMGCLAbout this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 1 of these genesFAT4About this report →
- Hereditary Corneal DystrophiesReads 1 of these genesTCF4About this report →
- Retinitis PigmentosaReads 2 of these genesFLVCR1CC2D2AAbout this report →
- Homocystinuria & Cobalamin DisordersReads 1 of these genesMMADHCAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesTMEM67About this report →
- Ehlers-Danlos SyndromeReads 1 of these genesCOL1A2About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesMAB21L2About this report →
- Female InfertilityReads 1 of these genesFMR1About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesRELPGM3About this report →
- Hypertrophic CardiomyopathyReads 1 of these genesNSD1About this report →
- Leigh SyndromeReads 1 of these genesNDUFAF5About this report →
- Hearing Loss and DeafnessReads 1 of these genesPRPS1About this report →
Lesen Sie die Gene aus, die mit IQ between 34 and 49 zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen
Meinen Genome Test bestellen213 Gene mit IQ between 34 and 49 verknüpft
Veränderungen in diesen Genen verursachen seltene Erkrankungen, bei denen IQ between 34 and 49 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 |
|---|---|---|
| AGO1argonaute RISC component 1 | Immer | In 1 Erkrankung |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Immer | In 1 Erkrankung |
| ANK3ankyrin 3 | Immer | In 2 Erkrankungen |
| ATP6V0CATPase H+ transporting V0 subunit c | Immer | In 1 Erkrankung |
| ATXN7L3ataxin 7 like 3 | Immer | In 1 Erkrankung |
| CACNG2calcium voltage-gated channel auxiliary subunit gamma 2 | Immer | In 1 Erkrankung |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Immer | In 1 Erkrankung |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Immer | In 1 Erkrankung |
| COG1component of oligomeric golgi complex 1 | Immer | In 2 Erkrankungen |
| COQ4coenzyme Q4 | Immer | In 1 Erkrankung |
| CPAPcentrosome assembly and centriole elongation protein | Immer | In 1 Erkrankung |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Immer | In 1 Erkrankung |
| DMXL2Dmx like 2 | Immer | In 2 Erkrankungen |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Immer | In 1 Erkrankung |
| EGFepidermal growth factor | Immer | In 1 Erkrankung |
| EXT2exostosin glycosyltransferase 2 | Immer | In 2 Erkrankungen |
| FEM1Bfem-1 homolog B | Immer | In 1 Erkrankung |
| FLVCR1FLVCR choline and heme transporter 1 | Immer | In 1 Erkrankung |
| FMR1fragile X messenger ribonucleoprotein 1 | Immer | In 2 Erkrankungen |
| FTSJ1FtsJ RNA 2'-O-methyltransferase 1 | Immer | In 1 Erkrankung |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Immer | In 1 Erkrankung |
| GTPBP2GTP binding protein 2 | Immer | In 1 Erkrankung |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Immer | In 1 Erkrankung |
| IL1RAPL1interleukin 1 receptor accessory protein like 1 | Immer | In 1 Erkrankung |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Immer | In 1 Erkrankung |
| INPP5Einositol polyphosphate-5-phosphatase E | Immer | In 3 Erkrankungen |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Immer | In 2 Erkrankungen |
| KDM2Blysine demethylase 2B | Immer | In 1 Erkrankung |
| KDM5Blysine demethylase 5B | Immer | In 1 Erkrankung |
| KDM6Blysine demethylase 6B | Immer | In 1 Erkrankung |
| KICS2KICSTOR subunit 2 | Immer | In 1 Erkrankung |
| KLHL20kelch like family member 20 | Immer | In 1 Erkrankung |
| LRRC7leucine rich repeat containing 7 | Immer | In 1 Erkrankung |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Immer | In 1 Erkrankung |
| MAN1B1mannosidase alpha class 1B member 1 | Immer | In 2 Erkrankungen |
| MED16mediator complex subunit 16 | Immer | In 1 Erkrankung |
| MMADHCmetabolism of cobalamin associated D | Immer | In 1 Erkrankung |
| MSL2MSL complex subunit 2 | Immer | In 1 Erkrankung |
| NCAPD2non-SMC condensin I complex subunit D2 | Immer | In 1 Erkrankung |
| NCAPHnon-SMC condensin I complex subunit H | Immer | In 1 Erkrankung |
173 weitere Gene anzeigen
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| NDUFAF1NADH:ubiquinone oxidoreductase complex assembly factor 1 | Immer | In 1 Erkrankung |
| NDUFAF5NADH:ubiquinone oxidoreductase complex assembly factor 5 | Immer | In 1 Erkrankung |
| NFIXnuclear factor I X | Immer | In 3 Erkrankungen |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Immer | In 1 Erkrankung |
| PDE2Aphosphodiesterase 2A | Immer | In 1 Erkrankung |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Immer | In 1 Erkrankung |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Immer | In 1 Erkrankung |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Immer | In 1 Erkrankung |
| PTRH2peptidyl-tRNA hydrolase 2 | Immer | In 2 Erkrankungen |
| RBMXRNA binding motif protein X-linked | Immer | In 2 Erkrankungen |
| SARS1seryl-tRNA synthetase 1 | Immer | In 1 Erkrankung |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Immer | In 1 Erkrankung |
| SGSM3small G protein signaling modulator 3 | Immer | In 1 Erkrankung |
| SLC9A7solute carrier family 9 member A7 | Immer | In 1 Erkrankung |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Immer | In 2 Erkrankungen |
| TAF4TATA-box binding protein associated factor 4 | Immer | In 1 Erkrankung |
| TOP2BDNA topoisomerase II beta | Immer | In 1 Erkrankung |
| TTI2TELO2 interacting protein 2 | Immer | In 2 Erkrankungen |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Immer | In 1 Erkrankung |
| UNC13Aunc-13 homolog A | Immer | In 2 Erkrankungen |
| UROC1urocanate hydratase 1 | Immer | In 1 Erkrankung |
| WSB2WD repeat and SOCS box containing 2 | Immer | In 1 Erkrankung |
| ZBTB11zinc finger and BTB domain containing 11 | Immer | In 1 Erkrankung |
| ZMYM3zinc finger MYM-type containing 3 | Immer | In 1 Erkrankung |
| ZNF711ZFX family zinc finger ZNF711 | Immer | In 1 Erkrankung |
| ALX4ALX homeobox 4 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| BCL11ABCL11 transcription factor A | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CAMKMTcalmodulin-lysine N-methyltransferase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CASKcalcium/calmodulin dependent serine protein kinase | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CDH11cadherin 11 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CUL4Bcullin 4B | Sehr häufig (80–99 %) | In 1 Erkrankung |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| HYCC1hyccin PI4KA lipid kinase complex subunit 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| LAMA1laminin subunit alpha 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PREPLprolyl endopeptidase like | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PUF60poly(U) binding splicing factor 60 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RDH11retinol dehydrogenase 11 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RELREL proto-oncogene, NF-kB subunit | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RPGRIP1LRPGRIP1 like | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RPS6KC1ribosomal protein S6 kinase C1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SLC3A1solute carrier family 3 member 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| TCF4transcription factor 4 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| TMEM67transmembrane protein 67 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| TMEM70transmembrane protein 70 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| USP9Xubiquitin specific peptidase 9 X-linked | Sehr häufig (80–99 %) | In 1 Erkrankung |
| XPO1exportin 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ADCY5adenylate cyclase 5 | Häufig (30–79 %) | In 1 Erkrankung |
| AFG2AAAA ATPase AFG2A | Häufig (30–79 %) | In 1 Erkrankung |
| AHDC1AT-hook DNA binding motif containing 1 | Häufig (30–79 %) | In 1 Erkrankung |
| ANKRD11ankyrin repeat domain 11 | Häufig (30–79 %) | In 1 Erkrankung |
| ARID1AAT-rich interaction domain 1A | Häufig (30–79 %) | In 1 Erkrankung |
| ARID1BAT-rich interaction domain 1B | Häufig (30–79 %) | In 1 Erkrankung |
| ARID2AT-rich interaction domain 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| ARXaristaless related homeobox | Häufig (30–79 %) | In 1 Erkrankung |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Häufig (30–79 %) | In 1 Erkrankung |
| CHD8chromodomain helicase DNA binding protein 8 | Häufig (30–79 %) | In 1 Erkrankung |
| CHRNA7cholinergic receptor nicotinic alpha 7 subunit | Häufig (30–79 %) | In 1 Erkrankung |
| CLCN4Cl-/H+ antiporter 4 | Häufig (30–79 %) | In 1 Erkrankung |
| COQ8Acoenzyme Q8A | Häufig (30–79 %) | In 1 Erkrankung |
| CWF19L1CWF19 like cell cycle control factor 1 | Häufig (30–79 %) | In 1 Erkrankung |
| DCHS1dachsous cadherin-related 1 | Häufig (30–79 %) | In 1 Erkrankung |
| DNMT3ADNA methyltransferase 3 alpha | Häufig (30–79 %) | In 1 Erkrankung |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| DPF2double PHD fingers 2 | Häufig (30–79 %) | In 1 Erkrankung |
| FAT4FAT atypical cadherin 4 | Häufig (30–79 %) | In 1 Erkrankung |
| FBLN1fibulin 1 | Häufig (30–79 %) | In 1 Erkrankung |
| FOXP1forkhead box P1 | Häufig (30–79 %) | In 1 Erkrankung |
| FZR1fizzy and cell division cycle 20 related 1 | Häufig (30–79 %) | In 1 Erkrankung |
| GLUD1glutamate dehydrogenase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Häufig (30–79 %) | In 1 Erkrankung |
| GTF3C3general transcription factor IIIC subunit 3 | Häufig (30–79 %) | In 1 Erkrankung |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Häufig (30–79 %) | In 2 Erkrankungen |
| KLF13KLF transcription factor 13 | Häufig (30–79 %) | In 1 Erkrankung |
| L1CAML1 cell adhesion molecule | Häufig (30–79 %) | In 1 Erkrankung |
| MAB21L1mab-21 like 1 | Häufig (30–79 %) | In 1 Erkrankung |
| MAB21L2mab-21 like 2 | Häufig (30–79 %) | In 1 Erkrankung |
| MAGEL2MAGE family member L2 | Häufig (30–79 %) | In 3 Erkrankungen |
| MECP2methyl-CpG binding protein 2 | Häufig (30–79 %) | In 1 Erkrankung |
| MED12mediator complex subunit 12 | Häufig (30–79 %) | In 1 Erkrankung |
| MED13Lmediator complex subunit 13L | Häufig (30–79 %) | In 2 Erkrankungen |
| MYT1Lmyelin transcription factor 1 like | Häufig (30–79 %) | In 1 Erkrankung |
| NDNnecdin, MAGE family member | Häufig (30–79 %) | In 3 Erkrankungen |
| NSD1nuclear receptor binding SET domain protein 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| OCA2OCA2 melanosomal transmembrane protein | Häufig (30–79 %) | In 3 Erkrankungen |
| OPHN1oligophrenin 1 | Häufig (30–79 %) | In 1 Erkrankung |
| PAX1paired box 1 | Häufig (30–79 %) | In 1 Erkrankung |
| PCDH19protocadherin 19 | Häufig (30–79 %) | In 2 Erkrankungen |
| PGM3phosphoglucomutase 3 | Häufig (30–79 %) | In 1 Erkrankung |
| PLP1proteolipid protein 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| POLR3ARNA polymerase III subunit A | Häufig (30–79 %) | In 1 Erkrankung |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Häufig (30–79 %) | In 1 Erkrankung |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| PSPHphosphoserine phosphatase | Häufig (30–79 %) | In 1 Erkrankung |
| RBSNrabenosyn, RAB effector | Häufig (30–79 %) | In 1 Erkrankung |
| RNU2-2RNA, U2 small nuclear 2 | Häufig (30–79 %) | In 1 Erkrankung |
| RNU4ATACRNA, U4atac small nuclear | Häufig (30–79 %) | In 1 Erkrankung |
| RNU5B-1RNA, U5B small nuclear 1 | Häufig (30–79 %) | In 1 Erkrankung |
| SATB2SATB homeobox 2 | Häufig (30–79 %) | In 1 Erkrankung |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Häufig (30–79 %) | In 1 Erkrankung |
| SHMT2serine hydroxymethyltransferase 2 | Häufig (30–79 %) | In 1 Erkrankung |
| SLC2A1solute carrier family 2 member 1 | Häufig (30–79 %) | In 1 Erkrankung |
| SLC6A17solute carrier family 6 member 17 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Häufig (30–79 %) | In 1 Erkrankung |
| SMOC1SPARC related modular calcium binding 1 | Häufig (30–79 %) | In 1 Erkrankung |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Häufig (30–79 %) | In 3 Erkrankungen |
| SOX11SRY-box transcription factor 11 | Häufig (30–79 %) | In 1 Erkrankung |
| SOX4SRY-box transcription factor 4 | Häufig (30–79 %) | In 1 Erkrankung |
| SRCAPSnf2 related CREBBP activator protein | Häufig (30–79 %) | In 1 Erkrankung |
| SRPK3SRSF protein kinase 3 | Häufig (30–79 %) | In 1 Erkrankung |
| STAG2STAG2 cohesin complex component | Häufig (30–79 %) | In 1 Erkrankung |
| TAF1TATA-box binding protein associated factor 1 | Häufig (30–79 %) | In 1 Erkrankung |
| THOC2THO complex subunit 2 | Häufig (30–79 %) | In 1 Erkrankung |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Häufig (30–79 %) | In 1 Erkrankung |
| XYLT1xylosyltransferase 1 | Häufig (30–79 %) | In 1 Erkrankung |
| YY1YY1 transcription factor | Häufig (30–79 %) | In 1 Erkrankung |
| ZSCAN10zinc finger and SCAN domain containing 10 | Häufig (30–79 %) | In 1 Erkrankung |
| APC2APC regulator of Wnt signaling pathway 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| ASXL3ASXL transcriptional regulator 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| CCNKcyclin K | Manchmal (5–29 %) | In 1 Erkrankung |
| CNTNAP2contactin associated protein 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| COG5component of oligomeric golgi complex 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| COL1A2collagen type I alpha 2 chain | Manchmal (5–29 %) | In 1 Erkrankung |
| CWC27CWC27 spliceosome associated cyclophilin | Manchmal (5–29 %) | In 1 Erkrankung |
| DHX9DExH-box helicase 9 | Manchmal (5–29 %) | In 1 Erkrankung |
| FGFR2fibroblast growth factor receptor 2 | Manchmal (5–29 %) | In 2 Erkrankungen |
| FGFR3fibroblast growth factor receptor 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Manchmal (5–29 %) | In 1 Erkrankung |
| HMGCL3-hydroxy-3-methylglutaryl-CoA lyase | Manchmal (5–29 %) | In 1 Erkrankung |
| KIF5Akinesin family member 5A | Manchmal (5–29 %) | In 1 Erkrankung |
| MAU2MAU2 sister chromatid cohesion factor | Manchmal (5–29 %) | In 1 Erkrankung |
| MED25mediator complex subunit 25 | Manchmal (5–29 %) | In 1 Erkrankung |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Manchmal (5–29 %) | In 1 Erkrankung |
| NAV3neuron navigator 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| PGAP2post-GPI attachment to proteins 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Manchmal (5–29 %) | In 1 Erkrankung |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Manchmal (5–29 %) | In 1 Erkrankung |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Manchmal (5–29 %) | In 1 Erkrankung |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Manchmal (5–29 %) | In 1 Erkrankung |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Manchmal (5–29 %) | In 1 Erkrankung |
| POLR3BRNA polymerase III subunit B | Manchmal (5–29 %) | In 1 Erkrankung |
| PRMT7protein arginine methyltransferase 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| RNU4-2RNA, U4 small nuclear 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| RSPRY1ring finger and SPRY domain containing 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC16A2solute carrier family 16 member 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC35A3solute carrier family 35 member A3 | Manchmal (5–29 %) | In 1 Erkrankung |
| TBCDtubulin folding cofactor D | Manchmal (5–29 %) | In 1 Erkrankung |
| TGM6transglutaminase 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| TOR1Atorsin family 1 member A | Manchmal (5–29 %) | In 1 Erkrankung |
| TWIST1twist family bHLH transcription factor 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| UBE2Aubiquitin conjugating enzyme E2 A | Manchmal (5–29 %) | In 1 Erkrankung |
| VPS16VPS16 core subunit of CORVET and HOPS complexes | Manchmal (5–29 %) | In 1 Erkrankung |
| WBP4WW domain binding protein 4 | Manchmal (5–29 %) | In 1 Erkrankung |
| WDR62WD repeat domain 62 | Manchmal (5–29 %) | In 1 Erkrankung |
| ZFXzinc finger protein X-linked | Manchmal (5–29 %) | In 1 Erkrankung |
| AKT1AKT serine/threonine kinase 1 | Nicht erfasst | In 1 Erkrankung |
| EBPEBP cholestenol delta-isomerase | Nicht erfasst | In 1 Erkrankung |
| ENTPD1ectonucleoside triphosphate diphosphohydrolase 1 | Nicht erfasst | In 1 Erkrankung |
| GTF2E2general transcription factor IIE subunit 2 | Nicht erfasst | In 1 Erkrankung |
| PTDSS1phosphatidylserine synthase 1 | Nicht erfasst | In 1 Erkrankung |
| RTTNrotatin | Nicht erfasst | In 1 Erkrankung |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Nicht erfasst | In 1 Erkrankung |
| SLC45A1solute carrier family 45 member 1 | Nicht erfasst | In 1 Erkrankung |
| TDO2tryptophan 2,3-dioxygenase | 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 2026.10.19-9814e911.
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