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Egenskap
Rod-cone dystrophy
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Sammendrag
- Også kalt
- Retinitis pigmentosa, Rod cone dystrophy
- Kroppssystem
- Abnormality of the eye
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Denne siden som data
Legg til .json etter adressen til siden, eller be om application/json, for å lese den som JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/rod-cone-dystrophy.json"
page <- fromJSON(url)
page$trait$nameRod-cone dystrophyHP:0000510
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Les genene knyttet til Rod-cone dystrophy, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test73 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.
- Retinitis PigmentosaReads 68 of these genesAGBL5ARL2BPARL3ARL6BBS2CC2D2AAbout this report →
- Primary Ciliary DyskinesiaReads 46 of these genesCCDC39CCDC40CCNOCFAP221CFAP298CFAP300About this report →
- Bardet-Biedl and Alström SyndromesReads 20 of these genesARL6BBIP1BBS1BBS10BBS12BBS2About this report →
- Zellweger Spectrum & Peroxisome Biogenesis DisordersReads 14 of these genesPEX12PEX2PEX7PEX1PEX10PEX11BAbout this report →
Show 69 more reports
- Usher SyndromeReads 11 of these genesCLRN1MYO7AUSH1CWHRNADGRV1ARSGAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 34 of these genesKLHL7NDUFA9PEX12PEX2PEX7RRM2BAbout this report →
- Leber Congenital Amaurosis & RPE65-Related RetinopathyReads 10 of these genesAIPL1CEP290CRB1CRXLRATROM1About this report →
- Other Inherited LeukodystrophiesReads 16 of these genesPEX12PEX2PEX7PEX1PEX10PEX11BAbout this report →
- Inherited Neurodegenerative DisordersReads 33 of these genesCC2D2ACEP290CTSDFLVCR1PEX12PEX2About this report →
- Congenital Stationary Night BlindnessReads 7 of these genesGNAT1RHOSAGRLBP1GRK1PDE6BAbout this report →
- Nephronophthisis and Senior-Løken SyndromeReads 6 of these genesSDCCAG8TMEM67WDR19IFT54NPHP4IQCB1About this report →
- Leigh SyndromeReads 11 of these genesNDUFA9MT-ATP6NDUFA1ATP5MKMT-ND1MT-ND3About this report →
- Hereditary Macular DystrophiesReads 4 of these genesROM1RLBP1BEST1PRPH2About this report →
- Peroxisomal Enzyme Disorders & Refsum DiseaseReads 3 of these genesAMACRACOX1PHYHAbout this report →
- RDH5-Related Retinopathy (Fundus Albipunctatus)Reads 2 of these genesRLBP1PRPH2About this report →
- Stargardt DiseaseReads 2 of these genesABCA4PROM1About this report →
- Joubert Syndrome And Related DisordersReads 7 of these genesARL3CC2D2ACEP290OFD1TMEM216TMEM67About this report →
- Hereditary Optic NeuropathyReads 4 of these genesMT-ND1MT-ND4MT-ND5MT-ND6About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 8 of these genesCC2D2ACEP290FLVCR1TMEM216TMEM67MKS1About this report →
- ACBD5 DeficiencyReads 1 of these genesACBD5About this report →
- Björnstad SyndromeReads 1 of these genesBCS1LAbout this report →
- Canavan DiseaseReads 1 of these genesASPAAbout this report →
- CEP290-Related CiliopathyReads 1 of these genesCEP290About this report →
- CWC27-Related Retinitis Pigmentosa with Skeletal AnomaliesReads 1 of these genesCWC27About this report →
- FDXR-Related Mitochondrial DisorderReads 1 of these genesFDXRAbout this report →
- HSD10 Mitochondrial DiseaseReads 1 of these genesHSD17B10About this report →
- IFT140-Related CiliopathyReads 1 of these genesIFT140About this report →
- KIF5A-Related Amyotrophic Lateral SclerosisReads 1 of these genesKIF5AAbout this report →
- Mitchell SyndromeReads 1 of these genesACOX1About this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- PROM1-Related Recessive RetinopathyReads 1 of these genesPROM1About this report →
- Short-Rib Thoracic Dysplasia 11 (DYNC2I2)Reads 1 of these genesDYNC2I2About this report →
- You-Hoover-Fong Syndrome (TELO2)Reads 1 of these genesTELO2About this report →
- Hearing Loss and DeafnessReads 9 of these genesMYO7AUSH1CWHRNCDH23ESPNPCDH15About this report →
- VitreoretinopathyReads 4 of these genesNR2E3ZNF408NRLBEST1About this report →
- Primary Mitochondrial DiseaseReads 9 of these genesNDUFA9RRM2BNDUFA1ATP5F1AATP5F1DATP5F1EAbout this report →
- Pseudoxanthoma ElasticumReads 1 of these genesGGCXAbout this report →
- Meckel SyndromeReads 2 of these genesTMEM67MKS1About this report →
- Congenital Disorders of GlycosylationReads 6 of these genesDHDDSDPAGT1PMM2SRD5A3ALG6SLC35A2About this report →
- HyperinsulinismReads 2 of these genesHK1PMM2About this report →
- Neuronal Ceroid LipofuscinosisReads 2 of these genesCTSDCLN3About this report →
- Mucopolysaccharidosis Type III (Sanfilippo Syndrome)Reads 1 of these genesHGSNATAbout this report →
- PorokeratosisReads 1 of these genesMVKAbout this report →
- Mosaic Variegated Aneuploidy SyndromeReads 1 of these genesTRIP13About this report →
- Hereditary Periodic Fever SyndromesReads 1 of these genesMVKAbout this report →
- Lysosomal Storage DiseaseReads 3 of these genesCTSDHGSNATCLN3About this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesWDR19About this report →
- Hereditary HypolipoproteinemiasReads 1 of these genesMTTPAbout this report →
- Inherited Parathyroid & Calcium-Sensing DisordersReads 1 of these genesGATA3About this report →
- Hereditary Sideroblastic AnaemiasReads 1 of these genesTRNT1About this report →
- Purine & Pyrimidine Metabolism DisordersReads 1 of these genesPRPS1About this report →
- Pyruvate Kinase Deficiency and Other Red Cell Enzyme DisordersReads 1 of these genesHK1About this report →
- Charcot-Marie-Tooth DiseaseReads 3 of these genesHARS1HK1PRPS1About this report →
- Neurodegeneration with Brain Iron Accumulation (NBIA)Reads 1 of these genesPANK2About this report →
- Rare Inherited Coagulation Factor DeficienciesReads 1 of these genesGGCXAbout this report →
- Male InfertilityReads 2 of these genesDNAH1SPEF2About this report →
- Familial HypomagnesemiaReads 1 of these genesCLDN19About this report →
- Heterotaxy & Laterality DefectsReads 1 of these genesDAW1About this report →
- Polycystic Kidney DiseaseReads 1 of these genesIFT140About this report →
- Hereditary Spastic ParaplegiaReads 2 of these genesKIF5AHSPD1About this report →
- Hereditary Sensory and Autonomic Neuropathies (incl. Familial Dysautonomia)Reads 1 of these genesKLHL7About this report →
- Epilepsy (Full Panel)Reads 3 of these genesMDH2AP3B2SLC35A2About this report →
- Syndromic CraniosynostosisReads 1 of these genesWDR19About this report →
- Pelizaeus-Merzbacher Disease & Hypomyelinating LeukodystrophiesReads 1 of these genesHSPD1About this report →
- Congenital Myasthenic SyndromeReads 1 of these genesDPAGT1About this report →
- Microphthalmia, Anophthalmia & ColobomaReads 1 of these genesHMX1About this report →
- Nephrotic SyndromeReads 1 of these genesLAMB2About this report →
- Diabetes MellitusReads 1 of these genesMT-TL1About this report →
- Autosomal Dominant Cerebellar Ataxias (SCAs and DRPLA)Reads 1 of these genesATXN2About this report →
- Dystonia, Myotonia, Paroxysmal DyskinesiaReads 1 of these genesWARS2About this report →
- DNA Repair DiseaseReads 1 of these genesAPTXAbout this report →
- Female InfertilityReads 1 of these genesTRIP13About this report →
- Intellectual DisabilityReads 2 of these genesRPL10POGZAbout this report →
Les genene knyttet til Rod-cone dystrophy, og resten av genomet ditt, med én test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test249 gener knyttet til Rod-cone dystrophy
Endringer i disse genene forårsaker sjeldne tilstander der Rod-cone dystrophy forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Alltid | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Alltid | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Alltid | I 1 tilstand |
| AMACRalpha-methylacyl-CoA racemase | Alltid | I 1 tilstand |
| ARL2ARF like GTPase 2 | Alltid | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Alltid | I 1 tilstand |
| ARL3ARF like GTPase 3 | Alltid | I 2 tilstander |
| ARL6ARF like GTPase 6 | Alltid | I 4 tilstander |
| BBIP1BBSome interacting protein 1 | Alltid | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Alltid | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Alltid | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Alltid | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Alltid | I 2 tilstander |
| BBS9Bardet-Biedl syndrome 9 | Alltid | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Alltid | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Alltid | I 1 tilstand |
| CEP290centrosomal protein 290 | Alltid | I 3 tilstander |
| CFAP418cilia and flagella associated protein 418 | Alltid | I 3 tilstander |
| CLRN1clarin 1 | Alltid | I 4 tilstander |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Alltid | I 2 tilstander |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Alltid | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Alltid | I 1 tilstand |
| CRXcone-rod homeobox | Alltid | I 1 tilstand |
| CTSDcathepsin D | Alltid | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Alltid | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Alltid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 2 tilstander |
| GGCXgamma-glutamyl carboxylase | Alltid | I 1 tilstand |
| GNAT1G protein subunit alpha transducin 1 | Alltid | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Alltid | I 2 tilstander |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Alltid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Alltid | I 1 tilstand |
| IFT27intraflagellar transport 27 | Alltid | I 1 tilstand |
| IFT74intraflagellar transport 74 | Alltid | I 1 tilstand |
| KIZkizuna centrosomal protein | Alltid | I 1 tilstand |
| KLC4kinesin light chain 4 | Alltid | I 1 tilstand |
| KLHL7kelch like family member 7 | Alltid | I 2 tilstander |
| LAMB2laminin subunit beta 2 | Alltid | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Alltid | I 2 tilstander |
| LZTFL1leucine zipper transcription factor like 1 | Alltid | I 1 tilstand |
Vis 209 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MERTKMER proto-oncogene, tyrosine kinase | Alltid | I 1 tilstand |
| MYO7Amyosin VIIA | Alltid | I 3 tilstander |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Alltid | I 1 tilstand |
| NEK2NIMA related kinase 2 | Alltid | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Alltid | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Alltid | I 3 tilstander |
| PDE6Gphosphodiesterase 6G | Alltid | I 2 tilstander |
| PEX12peroxisomal biogenesis factor 12 | Alltid | I 2 tilstander |
| PEX2peroxisomal biogenesis factor 2 | Alltid | I 3 tilstander |
| PEX7peroxisomal biogenesis factor 7 | Alltid | I 2 tilstander |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Alltid | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Alltid | I 1 tilstand |
| PRPF6pre-mRNA processing factor 6 | Alltid | I 1 tilstand |
| RBP3retinol binding protein 3 | Alltid | I 2 tilstander |
| RDH11retinol dehydrogenase 11 | Alltid | I 2 tilstander |
| REEP6receptor accessory protein 6 | Alltid | I 1 tilstand |
| RHOrhodopsin | Alltid | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Alltid | I 2 tilstander |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Alltid | I 1 tilstand |
| SAGS-antigen visual arrestin | Alltid | I 3 tilstander |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Alltid | I 1 tilstand |
| SLC7A14solute carrier family 7 member 14 | Alltid | I 1 tilstand |
| TMEM216transmembrane protein 216 | Alltid | I 1 tilstand |
| TMEM67transmembrane protein 67 | Alltid | I 3 tilstander |
| TTC8tetratricopeptide repeat domain 8 | Alltid | I 2 tilstander |
| TULP1TUB like protein 1 | Alltid | I 1 tilstand |
| UBAP1Lubiquitin associated protein 1 like | Alltid | I 1 tilstand |
| USH1CUSH1 protein network component harmonin | Alltid | I 3 tilstander |
| VWA8von Willebrand factor A domain containing 8 | Alltid | I 1 tilstand |
| WDR19WD repeat domain 19 | Alltid | I 2 tilstander |
| WHRNwhirlin | Alltid | I 2 tilstander |
| ZNF408zinc finger protein 408 | Alltid | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Svært ofte (80–99 %) | I 2 tilstander |
| ARSGarylsulfatase G | Svært ofte (80–99 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Svært ofte (80–99 %) | I 1 tilstand |
| CDH23cadherin related 23 | Svært ofte (80–99 %) | I 2 tilstander |
| CEP78centrosomal protein 78 | Svært ofte (80–99 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Svært ofte (80–99 %) | I 1 tilstand |
| ESPNespin | Svært ofte (80–99 %) | I 1 tilstand |
| HARS1histidyl-tRNA synthetase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IFT54intraflagellar transport 54 | Svært ofte (80–99 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PCDH15protocadherin related 15 | Svært ofte (80–99 %) | I 3 tilstander |
| PDZD7PDZ domain containing 7 | Svært ofte (80–99 %) | I 3 tilstander |
| PEX1peroxisomal biogenesis factor 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX10peroxisomal biogenesis factor 10 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Svært ofte (80–99 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Svært ofte (80–99 %) | I 2 tilstander |
| SH2B1SH2B adaptor protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| USH1GUSH1 protein network component sans | Svært ofte (80–99 %) | I 2 tilstander |
| USH2Ausherin | Svært ofte (80–99 %) | I 3 tilstander |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Ofte (30–79 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Ofte (30–79 %) | I 1 tilstand |
| CWC27CWC27 spliceosome associated cyclophilin | Ofte (30–79 %) | I 2 tilstander |
| EXOSC2exosome component 2 | Ofte (30–79 %) | I 1 tilstand |
| HK1hexokinase 1 | Ofte (30–79 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Ofte (30–79 %) | I 2 tilstander |
| KIF5Akinesin family member 5A | Ofte (30–79 %) | I 1 tilstand |
| MDH2malate dehydrogenase 2 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 4 tilstander |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Ofte (30–79 %) | I 1 tilstand |
| NPHP4nephrocystin 4 | Ofte (30–79 %) | I 1 tilstand |
| NRLneural retina leucine zipper | Ofte (30–79 %) | I 1 tilstand |
| PANK2pantothenate kinase 2 | Ofte (30–79 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 2 tilstander |
| TRNT1tRNA nucleotidyl transferase 1 | Ofte (30–79 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ASPAaspartoacylase | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Noen ganger (5–29 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Noen ganger (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FDXRferredoxin reductase | Noen ganger (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Noen ganger (5–29 %) | I 1 tilstand |
| MVKmevalonate kinase | Noen ganger (5–29 %) | I 1 tilstand |
| MYO6myosin VI | Noen ganger (5–29 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| POGZpogo transposable element derived with ZNF domain | Noen ganger (5–29 %) | I 2 tilstander |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 2 tilstander |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Sjelden (1–4%) | I 1 tilstand |
| BRWD1bromodomain and WD repeat domain containing 1 | Sjelden (1–4%) | I 1 tilstand |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Sjelden (1–4%) | I 1 tilstand |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Sjelden (1–4%) | I 1 tilstand |
| CCNOcyclin O | Sjelden (1–4%) | I 1 tilstand |
| CFAP221cilia and flagella associated protein 221 | Sjelden (1–4%) | I 1 tilstand |
| CFAP298cilia and flagella associated protein 298 | Sjelden (1–4%) | I 1 tilstand |
| CFAP300cilia and flagella associated protein 300 | Sjelden (1–4%) | I 1 tilstand |
| CFAP74cilia and flagella associated protein 74 | Sjelden (1–4%) | I 1 tilstand |
| CLXNcalaxin | Sjelden (1–4%) | I 1 tilstand |
| DAW1dynein assembly factor with WD repeats 1 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF1dynein axonemal assembly factor 1 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF11dynein axonemal assembly factor 11 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF19dynein axonemal assembly factor 19 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF2dynein axonemal assembly factor 2 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF3dynein axonemal assembly factor 3 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF4dynein axonemal assembly factor 4 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF5dynein axonemal assembly factor 5 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF6dynein axonemal assembly factor 6 | Sjelden (1–4%) | I 1 tilstand |
| DNAH1dynein axonemal heavy chain 1 | Sjelden (1–4%) | I 1 tilstand |
| DNAH11dynein axonemal heavy chain 11 | Sjelden (1–4%) | I 1 tilstand |
| DNAH5dynein axonemal heavy chain 5 | Sjelden (1–4%) | I 1 tilstand |
| DNAH7dynein axonemal heavy chain 7 | Sjelden (1–4%) | I 1 tilstand |
| DNAH9dynein axonemal heavy chain 9 | Sjelden (1–4%) | I 1 tilstand |
| DNAI1dynein axonemal intermediate chain 1 | Sjelden (1–4%) | I 1 tilstand |
| DNAI2dynein axonemal intermediate chain 2 | Sjelden (1–4%) | I 1 tilstand |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Sjelden (1–4%) | I 1 tilstand |
| DNAL1dynein axonemal light chain 1 | Sjelden (1–4%) | I 1 tilstand |
| DRC1dynein regulatory complex subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| DRC2dynein regulatory complex subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| DRC4dynein regulatory complex subunit 4 | Sjelden (1–4%) | I 1 tilstand |
| FOXJ1forkhead box J1 | Sjelden (1–4%) | I 1 tilstand |
| GAS2L2growth arrest specific 2 like 2 | Sjelden (1–4%) | I 1 tilstand |
| GATA3GATA binding protein 3 | Sjelden (1–4%) | I 1 tilstand |
| GRK1G protein-coupled receptor kinase 1 | Sjelden (1–4%) | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Sjelden (1–4%) | I 1 tilstand |
| HYDINHYDIN axonemal central pair apparatus protein | Sjelden (1–4%) | I 1 tilstand |
| LRRC56leucine rich repeat containing 56 | Sjelden (1–4%) | I 1 tilstand |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Sjelden (1–4%) | I 1 tilstand |
| NEK10NIMA related kinase 10 | Sjelden (1–4%) | I 1 tilstand |
| NME5NME/NM23 family member 5 | Sjelden (1–4%) | I 1 tilstand |
| NME8NME/NM23 family member 8 | Sjelden (1–4%) | I 1 tilstand |
| ODAD1outer dynein arm docking complex subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| ODAD2outer dynein arm docking complex subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| ODAD3outer dynein arm docking complex subunit 3 | Sjelden (1–4%) | I 1 tilstand |
| ODAD4outer dynein arm docking complex subunit 4 | Sjelden (1–4%) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Sjelden (1–4%) | I 3 tilstander |
| RSPH1radial spoke head component 1 | Sjelden (1–4%) | I 1 tilstand |
| RSPH3radial spoke head 3 | Sjelden (1–4%) | I 1 tilstand |
| RSPH4Aradial spoke head component 4A | Sjelden (1–4%) | I 1 tilstand |
| RSPH9radial spoke head component 9 | Sjelden (1–4%) | I 1 tilstand |
| SPAG1sperm associated antigen 1 | Sjelden (1–4%) | I 1 tilstand |
| SPEF2sperm flagellar and cilia associated 2 | Sjelden (1–4%) | I 1 tilstand |
| STK36serine/threonine kinase 36 | Sjelden (1–4%) | I 1 tilstand |
| TTC12tetratricopeptide repeat domain 12 | Sjelden (1–4%) | I 1 tilstand |
| ZMYND10zinc finger MYND-type containing 10 | Sjelden (1–4%) | I 1 tilstand |
| ABCA4ATP binding cassette subfamily A member 4 | Ikke registrert | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ikke registrert | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Ikke registrert | I 1 tilstand |
| APTXaprataxin | Ikke registrert | I 1 tilstand |
| ATXN2ataxin 2 | Ikke registrert | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Ikke registrert | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registrert | I 1 tilstand |
| BEST1bestrophin 1 | Ikke registrert | I 1 tilstand |
| CDHR1cadherin related family member 1 | Ikke registrert | I 1 tilstand |
| CERKLCERK like autophagy regulator | Ikke registrert | I 1 tilstand |
| CLDN19claudin 19 | Ikke registrert | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ikke registrert | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registrert | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Ikke registrert | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Ikke registrert | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Ikke registrert | I 1 tilstand |
| GUCA1Bguanylate cyclase activator 1B | Ikke registrert | I 1 tilstand |
| HMX1H6 family homeobox 1 | Ikke registrert | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Ikke registrert | I 1 tilstand |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Ikke registrert | I 1 tilstand |
| IQCB1IQ motif containing B1 | Ikke registrert | I 1 tilstand |
| KIF3Bkinesin family member 3B | Ikke registrert | I 1 tilstand |
| MAKmale germ cell associated kinase | Ikke registrert | I 1 tilstand |
| MAPKAPK3MAPK activated protein kinase 3 | Ikke registrert | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ikke registrert | I 1 tilstand |
| PCAREphotoreceptor cilium actin regulator | Ikke registrert | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Ikke registrert | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Ikke registrert | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ikke registrert | I 1 tilstand |
| PRCDphotoreceptor disc component | Ikke registrert | I 1 tilstand |
| PROM1prominin 1 | Ikke registrert | I 1 tilstand |
| PRPF3pre-mRNA processing factor 3 | Ikke registrert | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Ikke registrert | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Ikke registrert | I 1 tilstand |
| PRPH2peripherin 2 | Ikke registrert | I 1 tilstand |
| RGRretinal G protein coupled receptor | Ikke registrert | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Ikke registrert | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Ikke registrert | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Ikke registrert | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Ikke registrert | I 1 tilstand |
| SEMA4Asemaphorin 4A | Ikke registrert | I 2 tilstander |
| SLC35A2solute carrier family 35 member A2 | Ikke registrert | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Ikke registrert | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ikke registrert | I 1 tilstand |
| ZNF513zinc finger protein 513 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.19-9814e911.
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