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Merkmal
Nasal tip, upturned
Klinische Bezeichnung: Anteverted nares
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Zusammenfassung
- Auch genannt
- Upturned nasal tip, Upturned nose, Upturned nostrils, Anteverted nose, Anteverted nostrils, Nostrils anteverted, Upturned nares
- Körpersystem
- Abnormality of head or neck
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page$trait$nameNasal tip, upturnedHP:0000463
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Lesen Sie die Gene aus, die mit Nasal tip, upturned zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
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Meinen Genome Test bestellen190 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.
- Joubert Syndrome And Related DisordersReads 35 of these genesTOGARAM1AHI1ARL13BARL3ARMC9B9D1About this report →
- Intellectual DisabilityReads 59 of these genesANKRD11ARID1AASH1LATRXKDM6BKLHL15About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 13 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Coffin-Siris SyndromeReads 12 of these genesARID1AARID1BARID2DPF2SMARCA4SMARCB1About this report →
Show 186 more reports
- Meckel SyndromeReads 9 of these genesTXNDC15KIF14B9D1B9D2MKS1RPGRIP1LAbout this report →
- Epilepsy (Full Panel)Reads 39 of these genesPAK3PIGQRNU2-2THOC2ATP6V1AATP6V1B2About this report →
- Noonan SyndromeReads 12 of these genesBRAFKRASMAP2K1MAP2K2CBLERFAbout this report →
- Syndromic CraniosynostosisReads 12 of these genesFGFR2ERFFGFR1FGFR3IFT122IFT43About this report →
- Cornelia de Lange SyndromeReads 6 of these genesBRD4HDAC8NIPBLRAD21SMC1ASMC3About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 11 of these genesGLI3ZIC2CDONDISP1GLI2PLCH1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 16 of these genesPEX6AHI1CC2D2ACEP290CEP41CSPP1About this report →
- Syndromic Complex Neurodevelopmental DisorderReads 10 of these genesASH1LPAN2SETD5TBCKBRPF1NFIBAbout this report →
- Inherited Neurodegenerative DisordersReads 39 of these genesNALCNPEX1PEX10PEX11BPEX12PEX13About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 5 of these genesIFT122IFT43IFT52WDR19WDR35About this report →
- Other Inherited LeukodystrophiesReads 16 of these genesPEX1PEX10PEX11BPEX12PEX13PEX14About this report →
- Rhabdoid Tumour and SWI/SNF Tumour PredispositionReads 3 of these genesSMARCA4SMARCB1SMARCE1About this report →
- Lissencephaly Spectrum DisordersReads 8 of these genesPAFAH1B1RAB18RAB3GAP1RAB3GAP2TBC1D20KATNB1About this report →
- Hypertrophic CardiomyopathyReads 13 of these genesNSD1BRAFKRASMAP2K1MAP2K2ERFAbout this report →
- Congenital Disorders of GlycosylationReads 16 of these genesPIGYATP6V0A2B3GALT6PIGAPIGNPMM2About this report →
- Rare Hereditary Peripheral NeuropathiesReads 24 of these genesAIFM1CLCF1CRLF1PEX1PEX10PEX11BAbout this report →
- GPI Anchor Biosynthesis DefectsReads 7 of these genesPIGQPIGYGPAA1PIGAPIGNPIGPAbout this report →
- HyperinsulinismReads 5 of these genesPMM2ABCC8HK1INSRKCNJ11About this report →
- Achondrogenesis panelReads 3 of these genesSLC26A2TRIP11COL2A1About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 3 of these genesSOX11RERETRRAPAbout this report →
- Overgrowth Syndromes (Sotos, Weaver, Tatton-Brown-Rahman, Malan)Reads 3 of these genesDNMT3ANSD1NFIXAbout this report →
- Cantú SyndromeReads 2 of these genesABCC9KCNJ8About this report →
- Carey-Fineman-Ziter SyndromeReads 2 of these genesMYMKMYMXAbout this report →
- Cowden Syndrome (PTEN hamartoma tumour syndrome)Reads 2 of these genesAKT1PTENAbout this report →
- DOORS SyndromeReads 2 of these genesATP6V1B2TBC1D24About this report →
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Nevoid Basal Cell Carcinoma (Gorlin) SyndromeReads 2 of these genesPTCH1SUFUAbout this report →
- Otospondylomegaepiphyseal Dysplasia (OSMED)Reads 2 of these genesCOL11A2COL2A1About this report →
- Immuno-Osseous DysplasiasReads 2 of these genesRNU4ATACRMRPAbout this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 6 of these genesTOR1ATAF1VAC14PNKPSLC2A1ACTBAbout this report →
- Cutis LaxaReads 4 of these genesATP6V1E1ATP6V0A2ATP6V1AELNAbout this report →
- Epiphyseal and Spondyloepiphyseal DysplasiasReads 3 of these genesSLC26A2XYLT1COL2A1About this report →
- Hereditary Episodic AtaxiasReads 2 of these genesKCNA1SCN2AAbout this report →
- NeurofibromatosisReads 2 of these genesSMARCB1LZTR1About this report →
- Pseudohypoparathyroidism & GNAS-Inactivation DisordersReads 2 of these genesPDE4DPRKAR1AAbout this report →
- Aarskog-Scott SyndromeReads 1 of these genesFGD1About this report →
- Alkuraya-Kucinskas SyndromeReads 1 of these genesBLTP1About this report →
- BAP1 Tumour Predisposition SyndromeReads 1 of these genesBAP1About this report →
- Basilicata-Akhtar SyndromeReads 1 of these genesMSL3About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- Bryant-Li-Bhoj Neurodevelopmental Syndrome (H3-3A)Reads 1 of these genesH3-3AAbout this report →
- CEBALID Syndrome (MN1)Reads 1 of these genesMN1About this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- Chung-Jansen Syndrome (PHIP)Reads 1 of these genesPHIPAbout this report →
- Desbuquois Dysplasia 1Reads 1 of these genesCANT1About this report →
- DesmosterolosisReads 1 of these genesDHCR24About this report →
- Dias-Logan SyndromeReads 1 of these genesBCL11AAbout this report →
- DICER1 Tumour PredispositionReads 1 of these genesDICER1About this report →
- DLL1-Related Neurodevelopmental DisorderReads 1 of these genesDLL1About this report →
- Dravet SyndromeReads 1 of these genesSCN1AAbout this report →
- EBF3-Related Neurodevelopmental Disorder (HADDS)Reads 1 of these genesEBF3About this report →
- Elsahy-Waters SyndromeReads 1 of these genesCDH11About this report →
- Feingold Syndrome Type 1Reads 1 of these genesMYCNAbout this report →
- FGFR3-Related Chondrodysplasias (Achondroplasia and Related Conditions)Reads 1 of these genesFGFR3About this report →
- Frank-Ter Haar SyndromeReads 1 of these genesSH3PXD2BAbout this report →
- Frontonasal Dysplasia with Alopecia and Genital Anomaly (ALX4)Reads 1 of these genesALX4About this report →
- GAPO SyndromeReads 1 of these genesANTXR1About this report →
- Gaucher DiseaseReads 1 of these genesGBA1About this report →
- Greig Cephalopolysyndactyly SyndromeReads 1 of these genesGLI3About this report →
- H SyndromeReads 1 of these genesSLC29A3About this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- Hereditary Leiomyomatosis and Renal Cell CancerReads 1 of these genesFHAbout this report →
- Kaufman Oculocerebrofacial SyndromeReads 1 of these genesUBE3BAbout this report →
- KCNH1-Related DisorderReads 1 of these genesKCNH1About this report →
- KDM1A-Related Neurodevelopmental DisorderReads 1 of these genesKDM1AAbout this report →
- Labyrinthine Aplasia, Microtia and Microdontia (LAMM)Reads 1 of these genesFGF3About this report →
- Mandibulofacial Dysostosis with MicrocephalyReads 1 of these genesEFTUD2About this report →
- Marshall-Smith SyndromeReads 1 of these genesNFIXAbout this report →
- MED27-Related Neurodevelopmental DisorderReads 1 of these genesMED27About this report →
- Microcephaly and Chorioretinopathy 1 (TUBGCP6)Reads 1 of these genesTUBGCP6About this report →
- Mucopolysaccharidosis Type I (Hurler and Scheie Syndromes)Reads 1 of these genesIDUAAbout this report →
- NFIA-Related Brain MalformationsReads 1 of these genesNFIAAbout this report →
- NGLY1 DeficiencyReads 1 of these genesNGLY1About this report →
- Nizon-Isidor SyndromeReads 1 of these genesMED12LAbout this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- OpsismodysplasiaReads 1 of these genesINPPL1About this report →
- PBX1-Related Kidney and Urinary Tract AnomaliesReads 1 of these genesPBX1About this report →
- Perlman SyndromeReads 1 of these genesDIS3L2About this report →
- Phenylketonuria (PKU)Reads 1 of these genesPAHAbout this report →
- PLEC-Related Epidermolysis Bullosa and Muscular DystrophyReads 1 of these genesPLECAbout this report →
- POLR3A-Related DisorderReads 1 of these genesPOLR3AAbout this report →
- PPP1R21-Related Neurodevelopmental DisorderReads 1 of these genesPPP1R21About this report →
- Primary Failure of Tooth EruptionReads 1 of these genesPTH1RAbout this report →
- Primrose SyndromeReads 1 of these genesZBTB20About this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- Raine SyndromeReads 1 of these genesFAM20CAbout this report →
- Rett Syndrome and MECP2-Related DisordersReads 1 of these genesMECP2About this report →
- RNU4ATAC Spectrum DisorderReads 1 of these genesRNU4ATACAbout this report →
- Salla Disease and Free Sialic Acid Storage DiseaseReads 1 of these genesSLC17A5About this report →
- Scalp-Ear-Nipple SyndromeReads 1 of these genesKCTD1About this report →
- Short-Rib Thoracic Dysplasia 7 (WDR35)Reads 1 of these genesWDR35About this report →
- Simpson-Golabi-Behmel SyndromeReads 1 of these genesGPC3About this report →
- Skraban-Deardorff SyndromeReads 1 of these genesWDR26About this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- SPOP-Related Neurodevelopmental Disorder with MacrocephalyReads 1 of these genesSPOPAbout this report →
- SPTBN1-Related Neurodevelopmental DisorderReads 1 of these genesSPTBN1About this report →
- Stüve-Wiedemann SyndromeReads 1 of these genesLIFRAbout this report →
- TARP SyndromeReads 1 of these genesRBM10About this report →
- TMEM94-Related Intellectual Disability with Heart DefectsReads 1 of these genesTMEM94About this report →
- TRIM8-Related Neurodevelopmental and Kidney DisorderReads 1 of these genesTRIM8About this report →
- UNC13A-Related Neurodevelopmental DisordersReads 1 of these genesUNC13AAbout this report →
- X-Linked Opitz G/BBB SyndromeReads 1 of these genesMID1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 5 of these genesRAB18RAB3GAP1RAB3GAP2TBC1D20SHHAbout this report →
- Lysosomal Storage DiseaseReads 7 of these genesIDUAGBA1GNSSUMF1AGAGNPTABAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 4 of these genesWDR19NPHP1TMEM67ZNF423About this report →
- Congenital Cranial Dysinnervation DisordersReads 2 of these genesCHN1MAFBAbout this report →
- Disorders of Glycine & Serine MetabolismReads 2 of these genesGCSHSLC6A9About this report →
- Purine & Pyrimidine Metabolism DisordersReads 2 of these genesADSLDPYDAbout this report →
- Activated PI3K-Delta Syndrome (APDS)Reads 1 of these genesPIK3CDAbout this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Enlarged Parietal Foramina (MSX2)Reads 1 of these genesALX4About this report →
- FLNB-Related Skeletal Dysplasia (Larsen Spectrum)Reads 1 of these genesFLNBAbout this report →
- Hereditary Breast and Ovarian Cancer (BRCA1/2)Reads 1 of these genesBRCA1About this report →
- Lung CancerReads 1 of these genesDICER1About this report →
- Müllerian Aplasia (MRKH Syndrome)Reads 1 of these genesTBX6About this report →
- Severe Inherited Insulin ResistanceReads 1 of these genesINSRAbout this report →
- TRIP11-Related Skeletal DysplasiaReads 1 of these genesTRIP11About this report →
- Hypogonadotropic HypogonadismReads 5 of these genesRAB3GAP2FGFR1FGF8SNRPNPOU1F1About this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 2 of these genesNSD1SNRPNAbout this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 3 of these genesAIFM1CLCF1CRLF1About this report →
- Marfan Like SyndromesReads 2 of these genesFBN1SKIAbout this report →
- Bardet-Biedl and Alström SyndromesReads 3 of these genesCEP290IFT74MKS1About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 3 of these genesAIMP2POLR3APYCR2About this report →
- Primary Mitochondrial DiseaseReads 7 of these genesAIFM1POLG2MIPEPNARS2POLRMTLRPPRCAbout this report →
- Maturity-Onset Diabetes Of The YoungReads 2 of these genesABCC8KCNJ11About this report →
- EBV-Driven Lymphoproliferation and CARD11 Immune DysregulationReads 1 of these genesIKZF2About this report →
- Familial Hemiplegic MigraineReads 1 of these genesSCN1AAbout this report →
- MedulloblastomaReads 1 of these genesSUFUAbout this report →
- Monogenic Precocious PubertyReads 1 of these genesDLK1About this report →
- Mucolipidoses (ML II, ML III and ML IV)Reads 1 of these genesGNPTABAbout this report →
- Rothmund-Thomson SyndromeReads 1 of these genesCRIPTAbout this report →
- Retinitis PigmentosaReads 5 of these genesIFT43ARL3CC2D2AHK1OFD1About this report →
- Diabetes MellitusReads 3 of these genesZBTB20ABCC8KCNJ11About this report →
- Inherited ThrombocytopeniasReads 3 of these genesFLI1ACTBRBM8AAbout this report →
- Hearing Loss and DeafnessReads 5 of these genesAIFM1COL11A2IKZF2COL11A1TBC1D24About this report →
- Primary Lymphoedema & Lymphatic MalformationsReads 2 of these genesADAMTS3KIF11About this report →
- Carney Complex & Hereditary Adrenal Cushing SyndromeReads 1 of these genesPRKAR1AAbout this report →
- Familial Atrial FibrillationReads 1 of these genesGJA5About this report →
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)Reads 1 of these genesGNSAbout this report →
- Leigh SyndromeReads 4 of these genesAIFM1HPDLLRPPRCPDHA1About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 2 of these genesATRXDHX37About this report →
- Neonatal Diabetes MellitusReads 2 of these genesABCC8KCNJ11About this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesBUB1BAbout this report →
- PancreatitisReads 1 of these genesTRPV6About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesNEDD4LAbout this report →
- Ehlers-Danlos SyndromeReads 2 of these genesPLOD3B3GALT6About this report →
- Pontocerebellar Hypoplasia (TSEN54 and MINPP1)Reads 2 of these genesCHMP1ASLC25A46About this report →
- Dyskeratosis CongenitaReads 2 of these genesDNMT3BZBTB24About this report →
- Other Inborn Errors of ImmunityReads 6 of these genesIKZF2IL6STKRASPIK3CDRMRPSKIC3About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 1 of these genesACTG2About this report →
- Heritable Pulmonary Arterial Hypertension (HPAH)Reads 1 of these genesKCNK3About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 1 of these genesGNPATAbout this report →
- VitreoretinopathyReads 2 of these genesCOL11A1COL2A1About this report →
- Alpha-Mannosidosis and Other GlycoproteinosesReads 1 of these genesAGAAbout this report →
- Autoimmune Lymphoproliferative Syndrome (ALPS)Reads 1 of these genesKRASAbout this report →
- Hyper-IgE SyndromeReads 1 of these genesIL6STAbout this report →
- Left Ventricular NoncompactionReads 1 of these genesMIPEPAbout this report →
- Monogenic Obesity (Leptin-Melanocortin Pathway)Reads 1 of these genesSIM1About this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesHK1About this report →
- Osteogenesis ImperfectaReads 2 of these genesATP6V0A2POLR3AAbout this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesAIFM1FIG4HK1About this report →
- Complex Neurodevelopmental Disorder With Motor FeaturesReads 1 of these genesCACNA1BAbout this report →
- Kidney CancerReads 1 of these genesBAP1About this report →
- Pyruvate Dehydrogenase & Pyruvate Carboxylase DeficiencyReads 1 of these genesPDHA1About this report →
- Familial HypomagnesemiaReads 1 of these genesTRPV6About this report →
- Heterotaxy & Laterality DefectsReads 1 of these genesNODALAbout this report →
- Urinary and Renal System TumourReads 1 of these genesBAP1About this report →
- Aortic AneurysmReads 1 of these genesFBN1About this report →
- Inherited Congenital Heart DefectsReads 1 of these genesELNAbout this report →
- Parkinson DiseaseReads 1 of these genesGBA1About this report →
- Autosomal Recessive Primary MicrocephalyReads 1 of these genesKIF14About this report →
- Fanconi AnemiaReads 1 of these genesBRCA1About this report →
- Epidermolysis BullosaReads 1 of these genesPLECAbout this report →
- Hereditary Corneal DystrophiesReads 1 of these genesTCF4About this report →
- Autoimmune DiseaseReads 1 of these genesKRASAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 1 of these genesCEP290About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesPLECAbout this report →
- Amyotrophic Lateral Sclerosis (ALS)Reads 1 of these genesFIG4About this report →
- Thyroid CancerReads 1 of these genesTRPV6About this report →
- Limb-Girdle Muscular DystrophyReads 1 of these genesPLECAbout this report →
- Rare Monogenic Autoinflammatory DiseasesReads 1 of these genesSKIC3About this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesGJA1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesCAMTA1About this report →
- DNA Repair DiseaseReads 1 of these genesBRCA1About this report →
- Dilated CardiomyopathyReads 1 of these genesABCC9About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesHPDLAbout this report →
Lesen Sie die Gene aus, die mit Nasal tip, upturned zusammenhängen, und den Rest Ihres Genoms, mit einem einzigen Test.
Ab 449 $Kostenloser Versand · Ergebnisse in 6–8 Wochen
Meinen Genome Test bestellen509 Gene mit Nasal tip, upturned verknüpft
Veränderungen in diesen Genen verursachen seltene Erkrankungen, bei denen Nasal tip, upturned 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 |
|---|---|---|
| AIFM1apoptosis inducing factor mitochondria associated 1 | Immer | In 2 Erkrankungen |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Immer | In 1 Erkrankung |
| ALX4ALX homeobox 4 | Immer | In 2 Erkrankungen |
| ANKRD11ankyrin repeat domain 11 | Immer | In 3 Erkrankungen |
| ANTXR1ANTXR cell adhesion molecule 1 | Immer | In 2 Erkrankungen |
| ARID1AAT-rich interaction domain 1A | Immer | In 2 Erkrankungen |
| ASH1LASH1 like histone lysine methyltransferase | Immer | In 1 Erkrankung |
| ATIC5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase | Immer | In 1 Erkrankung |
| ATP6V1E1ATPase H+ transporting V1 subunit E1 | Immer | In 2 Erkrankungen |
| ATRXATRX chromatin remodeler | Immer | In 3 Erkrankungen |
| AXIN1axin 1 | Immer | In 1 Erkrankung |
| BMP2bone morphogenetic protein 2 | Immer | In 1 Erkrankung |
| CDH11cadherin 11 | Immer | In 1 Erkrankung |
| CHASERRCHD2 adjacent suppressive regulatory RNA | Immer | In 1 Erkrankung |
| CNOT2CCR4-NOT transcription complex subunit 2 | Immer | In 1 Erkrankung |
| COL11A2collagen type XI alpha 2 chain | Immer | In 5 Erkrankungen |
| COL27A1collagen type XXVII alpha 1 chain | Immer | In 1 Erkrankung |
| CRIPTCXXC repeat containing interactor of PDZ3 domain | Immer | In 1 Erkrankung |
| CUL7cullin 7 | Immer | In 2 Erkrankungen |
| DHCR77-dehydrocholesterol reductase | Immer | In 2 Erkrankungen |
| DNMT3ADNA methyltransferase 3 alpha | Immer | In 1 Erkrankung |
| DVL3dishevelled segment polarity protein 3 | Immer | In 2 Erkrankungen |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Immer | In 1 Erkrankung |
| EIF4A2eukaryotic translation initiation factor 4A2 | Immer | In 1 Erkrankung |
| ESAMendothelial cell adhesion molecule | Immer | In 1 Erkrankung |
| EXOSC1exosome component 1 | Immer | In 1 Erkrankung |
| FGFR2fibroblast growth factor receptor 2 | Immer | In 3 Erkrankungen |
| FTOFTO alpha-ketoglutarate dependent dioxygenase | Immer | In 1 Erkrankung |
| GCSHglycine cleavage system protein H | Immer | In 1 Erkrankung |
| HOXB1homeobox B1 | Immer | In 1 Erkrankung |
| IKZF2IKAROS family zinc finger 2 | Immer | In 1 Erkrankung |
| IL6STinterleukin 6 cytokine family signal transducer | Immer | In 1 Erkrankung |
| IRX5iroquois homeobox 5 | Immer | In 1 Erkrankung |
| JKAMPJNK1/MAPK8 associated membrane protein | Immer | In 1 Erkrankung |
| KCNK3potassium two pore domain channel subfamily K member 3 | Immer | In 1 Erkrankung |
| KDM6Alysine demethylase 6A | Immer | In 1 Erkrankung |
| KDM6Blysine demethylase 6B | Immer | In 1 Erkrankung |
| KIAA0753KIAA0753 | Immer | In 2 Erkrankungen |
| KLHL15kelch like family member 15 | Immer | In 1 Erkrankung |
| KMT2Dlysine methyltransferase 2D | Immer | In 1 Erkrankung |
469 weitere Gene anzeigen
| Gen | Wie häufig es auftritt | Erkrankungen |
|---|---|---|
| LIFRLIF receptor subunit alpha | Immer | In 1 Erkrankung |
| LONP1lon peptidase 1, mitochondrial | Immer | In 2 Erkrankungen |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Immer | In 1 Erkrankung |
| MAB21L1mab-21 like 1 | Immer | In 2 Erkrankungen |
| MARS2methionyl-tRNA synthetase 2, mitochondrial | Immer | In 1 Erkrankung |
| METTL23methyltransferase 23, arginine | Immer | In 1 Erkrankung |
| MICU1mitochondrial calcium uptake 1 | Immer | In 1 Erkrankung |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Immer | In 2 Erkrankungen |
| MYMKmyomaker, myoblast fusion factor | Immer | In 2 Erkrankungen |
| NFIAnuclear factor I A | Immer | In 1 Erkrankung |
| NSD1nuclear receptor binding SET domain protein 1 | Immer | In 1 Erkrankung |
| NXNnucleoredoxin | Immer | In 2 Erkrankungen |
| OBSL1obscurin like cytoskeletal adaptor 1 | Immer | In 2 Erkrankungen |
| PAK3p21 (RAC1) activated kinase 3 | Immer | In 1 Erkrankung |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Immer | In 1 Erkrankung |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Immer | In 2 Erkrankungen |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Immer | In 1 Erkrankung |
| PLCB3phospholipase C beta 3 | Immer | In 1 Erkrankung |
| PLECplectin | Immer | In 1 Erkrankung |
| PLOD3procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | Immer | In 1 Erkrankung |
| POLG2DNA polymerase gamma 2, accessory subunit | Immer | In 1 Erkrankung |
| POLR1ARNA polymerase I subunit A | Immer | In 1 Erkrankung |
| PPP1R21protein phosphatase 1 regulatory subunit 21 | Immer | In 1 Erkrankung |
| RAC3Rac family small GTPase 3 | Immer | In 1 Erkrankung |
| RNU2-2RNA, U2 small nuclear 2 | Immer | In 1 Erkrankung |
| RNU4ATACRNA, U4atac small nuclear | Immer | In 2 Erkrankungen |
| SATB2SATB homeobox 2 | Immer | In 2 Erkrankungen |
| SC5Dsterol-C5-desaturase | Immer | In 2 Erkrankungen |
| SGSM3small G protein signaling modulator 3 | Immer | In 1 Erkrankung |
| SLC13A1solute carrier family 13 member 1 | Immer | In 1 Erkrankung |
| SMSspermine synthase | Immer | In 2 Erkrankungen |
| SPOUT1SPOUT domain containing methyltransferase 1 | Immer | In 1 Erkrankung |
| TAF4TATA-box binding protein associated factor 4 | Immer | In 1 Erkrankung |
| TBC1D32TBC1 domain family member 32 | Immer | In 1 Erkrankung |
| THOC2THO complex subunit 2 | Immer | In 1 Erkrankung |
| TMCO1transmembrane and coiled-coil domains 1 | Immer | In 1 Erkrankung |
| TOR1Atorsin family 1 member A | Immer | In 1 Erkrankung |
| TXNDC15thioredoxin domain containing 15 | Immer | In 1 Erkrankung |
| UBE3Bubiquitin protein ligase E3B | Immer | In 1 Erkrankung |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Immer | In 1 Erkrankung |
| UNC13Aunc-13 homolog A | Immer | In 1 Erkrankung |
| VPS35LVPS35 endosomal protein sorting factor like | Immer | In 1 Erkrankung |
| VPS51VPS51 subunit of GARP complex | Immer | In 1 Erkrankung |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Immer | In 1 Erkrankung |
| ACSL4acyl-CoA synthetase long chain family member 4 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ADSLadenylosuccinate lyase | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| AFF4ALF transcription elongation factor 4 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| AMMECR1AMMECR nuclear protein 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ATP6V0A2ATPase H+ transporting V0 subunit a2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| ATP6V1AATPase H+ transporting V1 subunit A | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| BRD4bromodomain containing 4 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| CANT1calcium activated nucleotidase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| CD96CD96 molecule | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| CLCF1cardiotrophin like cytokine factor 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| COL11A1collagen type XI alpha 1 chain | Sehr häufig (80–99 %) | In 5 Erkrankungen |
| CRLF1cytokine receptor like factor 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| CSGALNACT1chondroitin sulfate N-acetylgalactosaminyltransferase 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| DVL1dishevelled segment polarity protein 1 | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| FAM20CFAM20C golgi associated secretory pathway kinase | Sehr häufig (80–99 %) | In 1 Erkrankung |
| FBN1fibrillin 1 | Sehr häufig (80–99 %) | In 4 Erkrankungen |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| FZD2frizzled class receptor 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| GPC6glypican 6 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| HDAC8histone deacetylase 8 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| HIC1HIC ZBTB transcriptional repressor 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| IDUAalpha-L-iduronidase | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| KRASKRas proto-oncogene, GTPase | Sehr häufig (80–99 %) | In 5 Erkrankungen |
| LTBP3latent transforming growth factor beta binding protein 3 | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| MAP2K1mitogen-activated protein kinase kinase 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MAP2K2mitogen-activated protein kinase kinase 2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MAU2MAU2 sister chromatid cohesion factor | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| MN1MN1 proto-oncogene, transcriptional regulator | Sehr häufig (80–99 %) | In 1 Erkrankung |
| MYMXmyomixer, myoblast fusion factor | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| NALCNsodium leak channel, non-selective | Sehr häufig (80–99 %) | In 1 Erkrankung |
| NFIXnuclear factor I X | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| NIPBLNIPBL cohesin loading factor | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PEX1peroxisomal biogenesis factor 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| PEX10peroxisomal biogenesis factor 10 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PEX11Bperoxisomal biogenesis factor 11 beta | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PEX12peroxisomal biogenesis factor 12 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PEX13peroxisomal biogenesis factor 13 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| PEX14peroxisomal biogenesis factor 14 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PEX16peroxisomal biogenesis factor 16 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PEX19peroxisomal biogenesis factor 19 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PEX2peroxisomal biogenesis factor 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PEX26peroxisomal biogenesis factor 26 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PEX3peroxisomal biogenesis factor 3 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PEX5peroxisomal biogenesis factor 5 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| PEX6peroxisomal biogenesis factor 6 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| PUF60poly(U) binding splicing factor 60 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| RAB18RAB18, member RAS oncogene family | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| RAD21RAD21 cohesin complex component | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| ROR2ROR family WNT receptor 2 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| RPS6KA3ribosomal protein S6 kinase A3 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| SLC26A2solute carrier family 26 member 2 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| SMC1Astructural maintenance of chromosomes 1A | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| SMC3structural maintenance of chromosomes 3 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| TBC1D20TBC1 domain family member 20 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| TBC1D24TBC1 domain family member 24 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| TCF4transcription factor 4 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| TRIP11thyroid hormone receptor interactor 11 | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| TWIST2twist family bHLH transcription factor 2 | Sehr häufig (80–99 %) | In 3 Erkrankungen |
| WNT5AWnt family member 5A | Sehr häufig (80–99 %) | In 2 Erkrankungen |
| XYLT1xylosyltransferase 1 | Sehr häufig (80–99 %) | In 1 Erkrankung |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Sehr häufig (80–99 %) | In 1 Erkrankung |
| ABCC9ATP binding cassette subfamily C member 9 | Häufig (30–79 %) | In 2 Erkrankungen |
| ADAMTS3ADAM metallopeptidase with thrombospondin type 1 motif 3 | Häufig (30–79 %) | In 1 Erkrankung |
| ADAMTSL2ADAMTS like 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| ADNPactivity dependent neuroprotector homeobox | Häufig (30–79 %) | In 1 Erkrankung |
| AHDC1AT-hook DNA binding motif containing 1 | Häufig (30–79 %) | In 1 Erkrankung |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | 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 |
| ASXL1ASXL transcriptional regulator 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| ASXL3ASXL transcriptional regulator 3 | Häufig (30–79 %) | In 1 Erkrankung |
| B3GALT6beta-1,3-galactosyltransferase 6 | Häufig (30–79 %) | In 1 Erkrankung |
| BORCS8BLOC-1 related complex subunit 8 | Häufig (30–79 %) | In 1 Erkrankung |
| CAMTA1calmodulin binding transcription activator 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| CBLCbl proto-oncogene | Häufig (30–79 %) | In 1 Erkrankung |
| CERT1ceramide transporter 1 | Häufig (30–79 %) | In 1 Erkrankung |
| CHN1chimerin 1 | Häufig (30–79 %) | In 1 Erkrankung |
| CREBBPCREB binding lysine acetyltransferase | Häufig (30–79 %) | In 2 Erkrankungen |
| DICER1dicer 1, ribonuclease III | Häufig (30–79 %) | In 1 Erkrankung |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Häufig (30–79 %) | In 1 Erkrankung |
| DOCK7dedicator of cytokinesis 7 | Häufig (30–79 %) | In 2 Erkrankungen |
| DPF2double PHD fingers 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| EBF3EBF transcription factor 3 | Häufig (30–79 %) | In 1 Erkrankung |
| ELNelastin | Häufig (30–79 %) | In 1 Erkrankung |
| ERFETS2 repressor factor | Häufig (30–79 %) | In 1 Erkrankung |
| EXOSC2exosome component 2 | Häufig (30–79 %) | In 1 Erkrankung |
| EXTL3exostosin like glycosyltransferase 3 | Häufig (30–79 %) | In 2 Erkrankungen |
| FGF3fibroblast growth factor 3 | Häufig (30–79 %) | In 1 Erkrankung |
| FGFR1fibroblast growth factor receptor 1 | Häufig (30–79 %) | In 3 Erkrankungen |
| FGFR3fibroblast growth factor receptor 3 | Häufig (30–79 %) | In 1 Erkrankung |
| FIG4FIG4 phosphoinositide 5-phosphatase | Häufig (30–79 %) | In 2 Erkrankungen |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Häufig (30–79 %) | In 1 Erkrankung |
| FRMD4AFERM domain containing 4A | Häufig (30–79 %) | In 2 Erkrankungen |
| GBA1glucosylceramidase beta 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| GJA1gap junction protein alpha 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| GLI3GLI family zinc finger 3 | Häufig (30–79 %) | In 2 Erkrankungen |
| GLULglutamate-ammonia ligase | Häufig (30–79 %) | In 1 Erkrankung |
| GMNNgeminin DNA replication inhibitor | Häufig (30–79 %) | In 1 Erkrankung |
| GNAI1G protein subunit alpha i1 | Häufig (30–79 %) | In 1 Erkrankung |
| GNSglucosamine (N-acetyl)-6-sulfatase | Häufig (30–79 %) | In 1 Erkrankung |
| GPAA1glycosylphosphatidylinositol anchor attachment 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| GPC3glypican 3 | Häufig (30–79 %) | In 2 Erkrankungen |
| GPC4glypican 4 | Häufig (30–79 %) | In 1 Erkrankung |
| HDAC4histone deacetylase 4 | Häufig (30–79 %) | In 2 Erkrankungen |
| HIVEP2HIVEP zinc finger 2 | Häufig (30–79 %) | In 1 Erkrankung |
| IFT122intraflagellar transport 122 | Häufig (30–79 %) | In 2 Erkrankungen |
| IFT43intraflagellar transport 43 | Häufig (30–79 %) | In 1 Erkrankung |
| IFT52intraflagellar transport 52 | Häufig (30–79 %) | In 1 Erkrankung |
| KCNJ8potassium inwardly rectifying channel subfamily J member 8 | Häufig (30–79 %) | In 1 Erkrankung |
| KDM1Alysine demethylase 1A | Häufig (30–79 %) | In 2 Erkrankungen |
| KIF14kinesin family member 14 | Häufig (30–79 %) | In 1 Erkrankung |
| KNSTRNkinetochore localized astrin (SPAG5) binding protein | Häufig (30–79 %) | In 1 Erkrankung |
| MAFBMAF bZIP transcription factor B | Häufig (30–79 %) | In 1 Erkrankung |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Häufig (30–79 %) | In 1 Erkrankung |
| MED25mediator complex subunit 25 | Häufig (30–79 %) | In 2 Erkrankungen |
| MEGF8multiple EGF like domains 8 | Häufig (30–79 %) | In 1 Erkrankung |
| MID1midline 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| MLXIPLMLX interacting protein like | Häufig (30–79 %) | In 1 Erkrankung |
| NOTCH2notch receptor 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| PAICSphosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase | Häufig (30–79 %) | In 1 Erkrankung |
| PDE4Dphosphodiesterase 4D | Häufig (30–79 %) | In 2 Erkrankungen |
| PHIPPHIP subunit of CUL4-Ring ligase complex | Häufig (30–79 %) | In 2 Erkrankungen |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Häufig (30–79 %) | In 1 Erkrankung |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Häufig (30–79 %) | In 1 Erkrankung |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Häufig (30–79 %) | In 3 Erkrankungen |
| PIK3CDphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | Häufig (30–79 %) | In 1 Erkrankung |
| PLK4polo like kinase 4 | Häufig (30–79 %) | In 1 Erkrankung |
| PMM2phosphomannomutase 2 | Häufig (30–79 %) | In 1 Erkrankung |
| POLR3ARNA polymerase III subunit A | Häufig (30–79 %) | In 2 Erkrankungen |
| POU4F1POU class 4 homeobox 1 | Häufig (30–79 %) | In 1 Erkrankung |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Häufig (30–79 %) | In 1 Erkrankung |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Häufig (30–79 %) | In 1 Erkrankung |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Häufig (30–79 %) | In 2 Erkrankungen |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Häufig (30–79 %) | In 2 Erkrankungen |
| PRKD1protein kinase D1 | Häufig (30–79 %) | In 1 Erkrankung |
| PRMT7protein arginine methyltransferase 7 | Häufig (30–79 %) | In 2 Erkrankungen |
| PTH1Rparathyroid hormone 1 receptor | Häufig (30–79 %) | In 1 Erkrankung |
| PTPRFprotein tyrosine phosphatase receptor type F | Häufig (30–79 %) | In 1 Erkrankung |
| PUS7pseudouridine synthase 7 | Häufig (30–79 %) | In 1 Erkrankung |
| RAI1retinoic acid induced 1 | Häufig (30–79 %) | In 1 Erkrankung |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Häufig (30–79 %) | In 1 Erkrankung |
| RECQLRecQ like helicase | Häufig (30–79 %) | In 1 Erkrankung |
| RIC1RIC1 partner of RAB6A GEF complex | Häufig (30–79 %) | In 1 Erkrankung |
| RNF2ring finger protein 2 | Häufig (30–79 %) | In 1 Erkrankung |
| SALL4spalt like transcription factor 4 | Häufig (30–79 %) | In 1 Erkrankung |
| SETD5SET domain containing 5 | Häufig (30–79 %) | In 2 Erkrankungen |
| SH3PXD2BSH3 and PX domains 2B | Häufig (30–79 %) | In 1 Erkrankung |
| SHOC2SHOC2 leucine rich repeat scaffold protein | Häufig (30–79 %) | In 1 Erkrankung |
| SLC29A3solute carrier family 29 member 3 | Häufig (30–79 %) | In 1 Erkrankung |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Häufig (30–79 %) | In 2 Erkrankungen |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Häufig (30–79 %) | In 2 Erkrankungen |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Häufig (30–79 %) | In 2 Erkrankungen |
| 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 |
| SMG9SMG9 nonsense mediated mRNA decay factor | Häufig (30–79 %) | In 1 Erkrankung |
| SOX11SRY-box transcription factor 11 | Häufig (30–79 %) | In 2 Erkrankungen |
| SOX4SRY-box transcription factor 4 | Häufig (30–79 %) | In 2 Erkrankungen |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Häufig (30–79 %) | In 1 Erkrankung |
| SUMF1sulfatase modifying factor 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| TAF1TATA-box binding protein associated factor 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| TBCKTBC1 domain containing kinase | Häufig (30–79 %) | In 1 Erkrankung |
| TBX6T-box transcription factor 6 | Häufig (30–79 %) | In 2 Erkrankungen |
| TMEM53transmembrane protein 53 | Häufig (30–79 %) | In 1 Erkrankung |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Häufig (30–79 %) | In 2 Erkrankungen |
| TRIM33tripartite motif containing 33 | Häufig (30–79 %) | In 1 Erkrankung |
| TUBGCP4tubulin gamma complex component 4 | Häufig (30–79 %) | In 1 Erkrankung |
| TUBGCP6tubulin gamma complex component 6 | Häufig (30–79 %) | In 1 Erkrankung |
| VAC14VAC14 component of PIKFYVE complex | Häufig (30–79 %) | In 1 Erkrankung |
| WDR19WD repeat domain 19 | Häufig (30–79 %) | In 2 Erkrankungen |
| WDR26WD repeat domain 26 | Häufig (30–79 %) | In 2 Erkrankungen |
| WDR35WD repeat domain 35 | Häufig (30–79 %) | In 1 Erkrankung |
| WLSWnt ligand secretion mediator | Häufig (30–79 %) | In 1 Erkrankung |
| ZBTB20zinc finger and BTB domain containing 20 | Häufig (30–79 %) | In 1 Erkrankung |
| ZIC2Zic family zinc finger 2 | Häufig (30–79 %) | In 2 Erkrankungen |
| ZNF462zinc finger protein 462 | Häufig (30–79 %) | In 1 Erkrankung |
| ZNHIT3zinc finger HIT-type containing 3 | Häufig (30–79 %) | In 1 Erkrankung |
| ABCC8ATP binding cassette subfamily C member 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| ACTG2actin gamma 2, smooth muscle | Manchmal (5–29 %) | In 1 Erkrankung |
| ADGRG6adhesion G protein-coupled receptor G6 | Manchmal (5–29 %) | In 1 Erkrankung |
| AHI1Abelson helper integration site 1 | Manchmal (5–29 %) | In 3 Erkrankungen |
| AKT1AKT serine/threonine kinase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunit | Manchmal (5–29 %) | In 2 Erkrankungen |
| ARL13BARF like GTPase 13B | Manchmal (5–29 %) | In 1 Erkrankung |
| ARL3ARF like GTPase 3 | Manchmal (5–29 %) | In 2 Erkrankungen |
| ARMC9armadillo repeat containing 9 | Manchmal (5–29 %) | In 1 Erkrankung |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| ATXN7L3ataxin 7 like 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| AUTS2activator of transcription and developmental regulator AUTS2 | Manchmal (5–29 %) | In 2 Erkrankungen |
| B3GLCTbeta 3-glucosyltransferase | Manchmal (5–29 %) | In 1 Erkrankung |
| B9D1B9 domain containing 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| B9D2B9 domain containing 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| BAP1BRCA1 associated deubiquitinase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| BCL11ABCL11 transcription factor A | Manchmal (5–29 %) | In 1 Erkrankung |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Manchmal (5–29 %) | In 1 Erkrankung |
| BRF1BRF1 general transcription factor IIIB subunit | Manchmal (5–29 %) | In 1 Erkrankung |
| BRPF1bromodomain and PHD finger containing 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Manchmal (5–29 %) | In 1 Erkrankung |
| CBY1chibby 1, beta catenin antagonist | Manchmal (5–29 %) | In 1 Erkrankung |
| CC2D2Acoiled-coil and C2 domain containing 2A | Manchmal (5–29 %) | In 2 Erkrankungen |
| CDC42BPBCDC42 binding protein kinase beta | Manchmal (5–29 %) | In 1 Erkrankung |
| CDONcell adhesion associated, oncogene regulated | Manchmal (5–29 %) | In 1 Erkrankung |
| CEP104centrosomal protein 104 | Manchmal (5–29 %) | In 1 Erkrankung |
| CEP120centrosomal protein 120 | Manchmal (5–29 %) | In 2 Erkrankungen |
| CEP290centrosomal protein 290 | Manchmal (5–29 %) | In 1 Erkrankung |
| CEP41centrosomal protein 41 | Manchmal (5–29 %) | In 2 Erkrankungen |
| CHMP1Acharged multivesicular body protein 1A | Manchmal (5–29 %) | In 1 Erkrankung |
| CNOT3CCR4-NOT transcription complex subunit 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| COG8component of oligomeric golgi complex 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| CPSF3cleavage and polyadenylation specific factor 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| CRIPTOcripto, EGF-CFC family member | Manchmal (5–29 %) | In 1 Erkrankung |
| CSNK2A1casein kinase 2 alpha 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| CSPP1centrosome and spindle pole associated protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| CTCFCCCTC-binding factor | Manchmal (5–29 %) | In 2 Erkrankungen |
| DDB1damage specific DNA binding protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DHX37DEAH-box helicase 37 | Manchmal (5–29 %) | In 1 Erkrankung |
| DISP1dispatched RND transporter family member 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DLK1delta like non-canonical Notch ligand 1 | Manchmal (5–29 %) | In 3 Erkrankungen |
| DLL1delta like canonical Notch ligand 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| DLL3delta like canonical Notch ligand 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| DPYDdihydropyrimidine dehydrogenase | Manchmal (5–29 %) | In 1 Erkrankung |
| FAM149B1family with sequence similarity 149 member B1 | Manchmal (5–29 %) | In 1 Erkrankung |
| FBXO11F-box protein 11 | Manchmal (5–29 %) | In 1 Erkrankung |
| FBXO22F-box protein 22 | Manchmal (5–29 %) | In 1 Erkrankung |
| FBXO31F-box protein 31 | Manchmal (5–29 %) | In 1 Erkrankung |
| FGF8fibroblast growth factor 8 | Manchmal (5–29 %) | In 1 Erkrankung |
| FHfumarate hydratase | Manchmal (5–29 %) | In 2 Erkrankungen |
| FILIP1filamin A interacting protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| FOXH1forkhead box H1 | Manchmal (5–29 %) | In 1 Erkrankung |
| FRYLFRY like transcription coactivator | Manchmal (5–29 %) | In 1 Erkrankung |
| GAD1glutamate decarboxylase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GAS1growth arrest specific 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| GDF11growth differentiation factor 11 | Manchmal (5–29 %) | In 1 Erkrankung |
| GLI2GLI family zinc finger 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| H3-3AH3.3 histone A | Manchmal (5–29 %) | In 1 Erkrankung |
| H4C5H4 clustered histone 5 | Manchmal (5–29 %) | In 1 Erkrankung |
| HES7hes family bHLH transcription factor 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| HK1hexokinase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Manchmal (5–29 %) | In 1 Erkrankung |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Manchmal (5–29 %) | In 1 Erkrankung |
| IFT56intraflagellar transport 56 | Manchmal (5–29 %) | In 1 Erkrankung |
| IFT74intraflagellar transport 74 | Manchmal (5–29 %) | In 1 Erkrankung |
| INPP5Einositol polyphosphate-5-phosphatase E | Manchmal (5–29 %) | In 4 Erkrankungen |
| INSRinsulin receptor | Manchmal (5–29 %) | In 1 Erkrankung |
| KATNB1katanin regulatory subunit B1 | Manchmal (5–29 %) | In 1 Erkrankung |
| KATNIPkatanin interacting protein | Manchmal (5–29 %) | In 2 Erkrankungen |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Manchmal (5–29 %) | In 1 Erkrankung |
| KCTD1potassium channel tetramerization domain containing 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| KDM2Blysine demethylase 2B | Manchmal (5–29 %) | In 1 Erkrankung |
| KDM4Blysine demethylase 4B | Manchmal (5–29 %) | In 1 Erkrankung |
| KDM5Alysine demethylase 5A | Manchmal (5–29 %) | In 1 Erkrankung |
| KIAA0586KIAA0586 | Manchmal (5–29 %) | In 1 Erkrankung |
| KICS2KICSTOR subunit 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| KIF11kinesin family member 11 | Manchmal (5–29 %) | In 2 Erkrankungen |
| KIF15kinesin family member 15 | Manchmal (5–29 %) | In 1 Erkrankung |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Manchmal (5–29 %) | In 1 Erkrankung |
| LMBRD2LMBR1 domain containing 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| LZTR1leucine zipper like post translational regulator 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MADDMAP kinase activating death domain | Manchmal (5–29 %) | In 1 Erkrankung |
| MAPK1mitogen-activated protein kinase 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| MARK2microtubule affinity regulating kinase 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| MECP2methyl-CpG binding protein 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| MED12Lmediator complex subunit 12L | Manchmal (5–29 %) | In 1 Erkrankung |
| MED27mediator complex subunit 27 | Manchmal (5–29 %) | In 1 Erkrankung |
| MEF2Cmyocyte enhancer factor 2C | Manchmal (5–29 %) | In 2 Erkrankungen |
| MEG3maternally expressed 3 | Manchmal (5–29 %) | In 3 Erkrankungen |
| MESP2mesoderm posterior bHLH transcription factor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| MIPEPmitochondrial intermediate peptidase | Manchmal (5–29 %) | In 1 Erkrankung |
| MKS1MKS transition zone complex subunit 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| MPLKIPM-phase specific PLK1 interacting protein | Manchmal (5–29 %) | In 1 Erkrankung |
| MSL3MSL complex subunit 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Manchmal (5–29 %) | In 1 Erkrankung |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Manchmal (5–29 %) | In 1 Erkrankung |
| NFIBnuclear factor I B | Manchmal (5–29 %) | In 1 Erkrankung |
| NODALnodal growth differentiation factor | Manchmal (5–29 %) | In 1 Erkrankung |
| NOVA2NOVA alternative splicing regulator 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| NPHP1nephrocystin 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| NSRP1nuclear speckle splicing regulatory protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| OFD1OFD1 centriole and centriolar satellite protein | Manchmal (5–29 %) | In 1 Erkrankung |
| PAHphenylalanine hydroxylase | Manchmal (5–29 %) | In 1 Erkrankung |
| PDE6Dphosphodiesterase 6D | Manchmal (5–29 %) | In 1 Erkrankung |
| PIBF1progesterone immunomodulatory binding factor 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| PLCH1phospholipase C eta 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| POLRMTRNA polymerase mitochondrial | Manchmal (5–29 %) | In 1 Erkrankung |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Manchmal (5–29 %) | In 1 Erkrankung |
| PTBP1polypyrimidine tract binding protein 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| PTCH1patched 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| PTENphosphatase and tensin homolog | Manchmal (5–29 %) | In 2 Erkrankungen |
| PURApurine rich element binding protein A | Manchmal (5–29 %) | In 3 Erkrankungen |
| PYCR2pyrroline-5-carboxylate reductase 2 | Manchmal (5–29 %) | In 2 Erkrankungen |
| RAC1Rac family small GTPase 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| RBM10RNA binding motif protein 10 | Manchmal (5–29 %) | In 2 Erkrankungen |
| REREarginine-glutamic acid dipeptide repeats | Manchmal (5–29 %) | In 2 Erkrankungen |
| RHOBTB2Rho related BTB domain containing 2 | Manchmal (5–29 %) | In 2 Erkrankungen |
| RIPPLY2ripply transcriptional repressor 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Manchmal (5–29 %) | In 1 Erkrankung |
| RNF125ring finger protein 125 | Manchmal (5–29 %) | In 1 Erkrankung |
| RNU4-2RNA, U4 small nuclear 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| RPGRIP1LRPGRIP1 like | Manchmal (5–29 %) | In 2 Erkrankungen |
| RTL1retrotransposon Gag like 1 | Manchmal (5–29 %) | In 3 Erkrankungen |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Manchmal (5–29 %) | In 1 Erkrankung |
| SHHsonic hedgehog signaling molecule | Manchmal (5–29 %) | In 1 Erkrankung |
| SIM1SIM bHLH transcription factor 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| SIN3ASIN3 transcription regulator family member A | Manchmal (5–29 %) | In 1 Erkrankung |
| SIX3SIX homeobox 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| SKISKI proto-oncogene | Manchmal (5–29 %) | In 2 Erkrankungen |
| SLC4A10solute carrier family 4 member 10 | Manchmal (5–29 %) | In 1 Erkrankung |
| SLC6A1solute carrier family 6 member 1 | Manchmal (5–29 %) | In 2 Erkrankungen |
| SLC6A11solute carrier family 6 member 11 | Manchmal (5–29 %) | In 1 Erkrankung |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Manchmal (5–29 %) | In 1 Erkrankung |
| SPENspen family transcriptional repressor | Manchmal (5–29 %) | In 1 Erkrankung |
| SPOPspeckle type BTB/POZ protein | Manchmal (5–29 %) | In 1 Erkrankung |
| SUFUSUFU negative regulator of hedgehog signaling | Manchmal (5–29 %) | In 2 Erkrankungen |
| TCTN1tectonic family member 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| TCTN2tectonic family member 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| TCTN3tectonic family member 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| TGIF1TGFB induced factor homeobox 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| TMEM138transmembrane protein 138 | Manchmal (5–29 %) | In 1 Erkrankung |
| TMEM216transmembrane protein 216 | Manchmal (5–29 %) | In 1 Erkrankung |
| TMEM218transmembrane protein 218 | Manchmal (5–29 %) | In 1 Erkrankung |
| TMEM231transmembrane protein 231 | Manchmal (5–29 %) | In 1 Erkrankung |
| TMEM237transmembrane protein 237 | Manchmal (5–29 %) | In 3 Erkrankungen |
| TMEM67transmembrane protein 67 | Manchmal (5–29 %) | In 3 Erkrankungen |
| TONSLtonsoku like, DNA repair protein | Manchmal (5–29 %) | In 2 Erkrankungen |
| TRAF7TNF receptor associated factor 7 | Manchmal (5–29 %) | In 1 Erkrankung |
| TRIOtrio Rho guanine nucleotide exchange factor | Manchmal (5–29 %) | In 1 Erkrankung |
| TRIP12thyroid hormone receptor interactor 12 | Manchmal (5–29 %) | In 1 Erkrankung |
| TRMT10AtRNA methyltransferase 10A | Manchmal (5–29 %) | In 1 Erkrankung |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Manchmal (5–29 %) | In 1 Erkrankung |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Manchmal (5–29 %) | In 1 Erkrankung |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Manchmal (5–29 %) | In 1 Erkrankung |
| WWOXWW domain containing oxidoreductase | Manchmal (5–29 %) | In 1 Erkrankung |
| ZMYM2zinc finger MYM-type containing 2 | Manchmal (5–29 %) | In 1 Erkrankung |
| ZNF292zinc finger protein 292 | Manchmal (5–29 %) | In 1 Erkrankung |
| ZNF423zinc finger protein 423 | Manchmal (5–29 %) | In 1 Erkrankung |
| ZNF699zinc finger protein 699 | Manchmal (5–29 %) | In 1 Erkrankung |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Selten (1–4 %) | In 1 Erkrankung |
| ARXaristaless related homeobox | Selten (1–4 %) | In 1 Erkrankung |
| 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 2 Erkrankungen |
| CHD2chromodomain helicase DNA binding protein 2 | Selten (1–4 %) | In 1 Erkrankung |
| DMXL2Dmx like 2 | Selten (1–4 %) | In 1 Erkrankung |
| GJA5gap junction protein alpha 5 | Selten (1–4 %) | In 1 Erkrankung |
| GJA8gap junction protein alpha 8 | Selten (1–4 %) | In 1 Erkrankung |
| 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 |
| MED16mediator complex subunit 16 | Selten (1–4 %) | In 1 Erkrankung |
| NEUROD2neuronal differentiation 2 | Selten (1–4 %) | In 1 Erkrankung |
| NEXMIFneurite extension and migration factor | Selten (1–4 %) | In 2 Erkrankungen |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Selten (1–4 %) | In 1 Erkrankung |
| PNKPpolynucleotide kinase 3'-phosphatase | Selten (1–4 %) | In 1 Erkrankung |
| SCN1Asodium voltage-gated channel alpha subunit 1 | 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 |
| SIK1salt inducible kinase 1 | Selten (1–4 %) | In 1 Erkrankung |
| SLC25A22solute carrier family 25 member 22 | Selten (1–4 %) | In 1 Erkrankung |
| SLC2A1solute carrier family 2 member 1 | 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 |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Selten (1–4 %) | In 1 Erkrankung |
| TRIM8tripartite motif containing 8 | Selten (1–4 %) | In 1 Erkrankung |
| ACTBactin beta | Nicht erfasst | In 1 Erkrankung |
| AGAaspartylglucosaminidase | Nicht erfasst | In 1 Erkrankung |
| ATAD3AATPase family AAA domain containing 3A | Nicht erfasst | In 1 Erkrankung |
| BLTP1bridge-like lipid transfer protein family member 1 | Nicht erfasst | In 1 Erkrankung |
| BRCA1BRCA1 DNA repair associated | Nicht erfasst | In 1 Erkrankung |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Nicht erfasst | In 1 Erkrankung |
| CEP55centrosomal protein 55 | Nicht erfasst | In 1 Erkrankung |
| COG1component of oligomeric golgi complex 1 | Nicht erfasst | In 1 Erkrankung |
| COL2A1collagen type II alpha 1 chain | Nicht erfasst | In 1 Erkrankung |
| DDX3XDEAD-box helicase 3 X-linked | Nicht erfasst | In 1 Erkrankung |
| DHCR2424-dehydrocholesterol reductase | Nicht erfasst | In 1 Erkrankung |
| DNMT3BDNA methyltransferase 3 beta | Nicht erfasst | In 1 Erkrankung |
| DOCK3dedicator of cytokinesis 3 | Nicht erfasst | In 1 Erkrankung |
| ECEL1endothelin converting enzyme like 1 | Nicht erfasst | In 1 Erkrankung |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Nicht erfasst | In 1 Erkrankung |
| FLNBfilamin B | Nicht erfasst | In 1 Erkrankung |
| GNPATglyceronephosphate O-acyltransferase | Nicht erfasst | In 1 Erkrankung |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Nicht erfasst | In 1 Erkrankung |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Nicht erfasst | In 1 Erkrankung |
| HRASHRas proto-oncogene, GTPase | Nicht erfasst | In 2 Erkrankungen |
| IER3IP1immediate early response 3 interacting protein 1 | Nicht erfasst | In 1 Erkrankung |
| INPPL1inositol polyphosphate phosphatase like 1 | Nicht erfasst | In 1 Erkrankung |
| LRPPRCleucine rich pentatricopeptide repeat containing | Nicht erfasst | In 1 Erkrankung |
| NGLY1N-glycanase 1 | Nicht erfasst | In 1 Erkrankung |
| NRASNRAS proto-oncogene, GTPase | Nicht erfasst | In 1 Erkrankung |
| OCLNoccludin | Nicht erfasst | In 1 Erkrankung |
| PAM16presequence translocase associated motor 16 | Nicht erfasst | In 1 Erkrankung |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Nicht erfasst | In 1 Erkrankung |
| PBX1PBX homeobox 1 | Nicht erfasst | In 1 Erkrankung |
| PDHA1pyruvate dehydrogenase E1 subunit alpha 1 | Nicht erfasst | In 1 Erkrankung |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Nicht erfasst | In 1 Erkrankung |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Nicht erfasst | In 1 Erkrankung |
| POU1F1POU class 1 homeobox 1 | Nicht erfasst | In 1 Erkrankung |
| RALARAS like proto-oncogene A | Nicht erfasst | In 1 Erkrankung |
| RBM8ARNA binding motif protein 8A | Nicht erfasst | In 1 Erkrankung |
| SEC23ASEC23 homolog A, COPII component | Nicht erfasst | In 1 Erkrankung |
| SETBP1SET binding protein 1 | Nicht erfasst | In 1 Erkrankung |
| SKIC3SKI3 subunit of superkiller complex | Nicht erfasst | In 1 Erkrankung |
| SLC17A5solute carrier family 17 member 5 | Nicht erfasst | In 1 Erkrankung |
| SLC25A46solute carrier family 25 member 46 | Nicht erfasst | In 1 Erkrankung |
| SLC6A9solute carrier family 6 member 9 | Nicht erfasst | In 1 Erkrankung |
| SNX14sorting nexin 14 | Nicht erfasst | In 1 Erkrankung |
| TAPT1transmembrane anterior posterior transformation 1 | Nicht erfasst | In 1 Erkrankung |
| TMEM70transmembrane protein 70 | Nicht erfasst | In 1 Erkrankung |
| TMEM94transmembrane protein 94 | Nicht erfasst | In 1 Erkrankung |
| TRRAPtransformation/transcription domain associated protein | Nicht erfasst | In 1 Erkrankung |
| UNC80unc-80 subunit of NALCN channel complex | Nicht erfasst | In 1 Erkrankung |
| ZBTB24zinc finger and BTB domain containing 24 | Nicht erfasst | In 1 Erkrankung |
| ZC4H2zinc finger C4H2-type containing | Nicht erfasst | In 2 Erkrankungen |
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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