Træk
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.
Resumé
- Også kaldet
- Retinitis pigmentosa, Rod cone dystrophy
- Kropssystem
- Abnormality of the eye
ReferencegenomGRCh38hg38
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Bestil min Genome Test249 gener knyttet til Rod-cone dystrophy
Ændringer i disse gener forårsager sjældne tilstande, hvor Rod-cone dystrophy ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Altid | I 1 tilstand |
| AGBL5AGBL carboxypeptidase 5 | Altid | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Altid | I 1 tilstand |
| AMACRalpha-methylacyl-CoA racemase | Altid | I 1 tilstand |
| ARL2ARF like GTPase 2 | Altid | I 1 tilstand |
| ARL2BPARF like GTPase 2 binding protein | Altid | I 1 tilstand |
| ARL3ARF like GTPase 3 | Altid | I 2 tilstande |
| ARL6ARF like GTPase 6 | Altid | I 4 tilstande |
| BBIP1BBSome interacting protein 1 | Altid | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Altid | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Altid | I 1 tilstand |
| BBS12Bardet-Biedl syndrome 12 | Altid | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Altid | I 2 tilstande |
| BBS9Bardet-Biedl syndrome 9 | Altid | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Altid | I 1 tilstand |
| CCDC28Bcoiled-coil domain containing 28B | Altid | I 1 tilstand |
| CEP290centrosomal protein 290 | Altid | I 3 tilstande |
| CFAP418cilia and flagella associated protein 418 | Altid | I 3 tilstande |
| CLRN1clarin 1 | Altid | I 4 tilstande |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Altid | I 2 tilstande |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Altid | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Altid | I 1 tilstand |
| CRXcone-rod homeobox | Altid | I 1 tilstand |
| CTSDcathepsin D | Altid | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altid | I 1 tilstand |
| DHX38DEAH-box helicase 38 | Altid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Altid | I 2 tilstande |
| GGCXgamma-glutamyl carboxylase | Altid | I 1 tilstand |
| GNAT1G protein subunit alpha transducin 1 | Altid | I 1 tilstand |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Altid | I 2 tilstande |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Altid | I 1 tilstand |
| IFT140intraflagellar transport 140 | Altid | I 1 tilstand |
| IFT27intraflagellar transport 27 | Altid | I 1 tilstand |
| IFT74intraflagellar transport 74 | Altid | I 1 tilstand |
| KIZkizuna centrosomal protein | Altid | I 1 tilstand |
| KLC4kinesin light chain 4 | Altid | I 1 tilstand |
| KLHL7kelch like family member 7 | Altid | I 2 tilstande |
| LAMB2laminin subunit beta 2 | Altid | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Altid | I 2 tilstande |
| LZTFL1leucine zipper transcription factor like 1 | Altid | I 1 tilstand |
Vis 209 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| MERTKMER proto-oncogene, tyrosine kinase | Altid | I 1 tilstand |
| MYO7Amyosin VIIA | Altid | I 3 tilstande |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Altid | I 1 tilstand |
| NEK2NIMA related kinase 2 | Altid | I 1 tilstand |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Altid | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Altid | I 3 tilstande |
| PDE6Gphosphodiesterase 6G | Altid | I 2 tilstande |
| PEX12peroxisomal biogenesis factor 12 | Altid | I 2 tilstande |
| PEX2peroxisomal biogenesis factor 2 | Altid | I 3 tilstande |
| PEX7peroxisomal biogenesis factor 7 | Altid | I 2 tilstande |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Altid | I 1 tilstand |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Altid | I 1 tilstand |
| PRPF6pre-mRNA processing factor 6 | Altid | I 1 tilstand |
| RBP3retinol binding protein 3 | Altid | I 2 tilstande |
| RDH11retinol dehydrogenase 11 | Altid | I 2 tilstande |
| REEP6receptor accessory protein 6 | Altid | I 1 tilstand |
| RHOrhodopsin | Altid | I 1 tilstand |
| ROM1retinal outer segment membrane protein 1 | Altid | I 2 tilstande |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Altid | I 1 tilstand |
| SAGS-antigen visual arrestin | Altid | I 3 tilstande |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Altid | I 1 tilstand |
| SLC7A14solute carrier family 7 member 14 | Altid | I 1 tilstand |
| TMEM216transmembrane protein 216 | Altid | I 1 tilstand |
| TMEM67transmembrane protein 67 | Altid | I 3 tilstande |
| TTC8tetratricopeptide repeat domain 8 | Altid | I 2 tilstande |
| TULP1TUB like protein 1 | Altid | I 1 tilstand |
| UBAP1Lubiquitin associated protein 1 like | Altid | I 1 tilstand |
| USH1CUSH1 protein network component harmonin | Altid | I 3 tilstande |
| VWA8von Willebrand factor A domain containing 8 | Altid | I 1 tilstand |
| WDR19WD repeat domain 19 | Altid | I 2 tilstande |
| WHRNwhirlin | Altid | I 2 tilstande |
| ZNF408zinc finger protein 408 | Altid | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Meget ofte (80–99 %) | I 2 tilstande |
| ARSGarylsulfatase G | Meget ofte (80–99 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Meget ofte (80–99 %) | I 1 tilstand |
| CDH23cadherin related 23 | Meget ofte (80–99 %) | I 2 tilstande |
| CEP78centrosomal protein 78 | Meget ofte (80–99 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Meget ofte (80–99 %) | I 1 tilstand |
| ESPNespin | Meget ofte (80–99 %) | I 1 tilstand |
| HARS1histidyl-tRNA synthetase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| IFT54intraflagellar transport 54 | Meget ofte (80–99 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Meget ofte (80–99 %) | I 1 tilstand |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Meget ofte (80–99 %) | I 1 tilstand |
| PCDH15protocadherin related 15 | Meget ofte (80–99 %) | I 3 tilstande |
| PDZD7PDZ domain containing 7 | Meget ofte (80–99 %) | I 3 tilstande |
| PEX1peroxisomal biogenesis factor 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PEX10peroxisomal biogenesis factor 10 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Meget ofte (80–99 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Meget ofte (80–99 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Meget ofte (80–99 %) | I 2 tilstande |
| SH2B1SH2B adaptor protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| USH1GUSH1 protein network component sans | Meget ofte (80–99 %) | I 2 tilstande |
| USH2Ausherin | Meget ofte (80–99 %) | I 3 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| 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 tilstande |
| TRNT1tRNA nucleotidyl transferase 1 | Ofte (30–79 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Nogle gange (5–29 %) | I 1 tilstand |
| ASPAaspartoacylase | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1AATP synthase F1 subunit alpha | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1DATP synthase F1 subunit delta | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5F1EATP synthase F1 subunit epsilon | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Nogle gange (5–29 %) | I 1 tilstand |
| ATP5POATP synthase peripheral stalk subunit OSCP | Nogle gange (5–29 %) | I 1 tilstand |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FDXRferredoxin reductase | Nogle gange (5–29 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| MTTPmicrosomal triglyceride transfer protein | Nogle gange (5–29 %) | I 1 tilstand |
| MVKmevalonate kinase | Nogle gange (5–29 %) | I 1 tilstand |
| MYO6myosin VI | Nogle gange (5–29 %) | I 1 tilstand |
| PMM2phosphomannomutase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| POGZpogo transposable element derived with ZNF domain | Nogle gange (5–29 %) | I 2 tilstande |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| RLBP1retinaldehyde binding protein 1 | Nogle gange (5–29 %) | I 1 tilstand |
| SRD5A3steroid 5 alpha-reductase 3 | Nogle gange (5–29 %) | I 1 tilstand |
| TELO2telomere maintenance 2 | Nogle gange (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Nogle gange (5–29 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Nogle gange (5–29 %) | I 2 tilstande |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Sjældent (1–4%) | I 1 tilstand |
| BRWD1bromodomain and WD repeat domain containing 1 | Sjældent (1–4%) | I 1 tilstand |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Sjældent (1–4%) | I 1 tilstand |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Sjældent (1–4%) | I 1 tilstand |
| CCNOcyclin O | Sjældent (1–4%) | I 1 tilstand |
| CFAP221cilia and flagella associated protein 221 | Sjældent (1–4%) | I 1 tilstand |
| CFAP298cilia and flagella associated protein 298 | Sjældent (1–4%) | I 1 tilstand |
| CFAP300cilia and flagella associated protein 300 | Sjældent (1–4%) | I 1 tilstand |
| CFAP74cilia and flagella associated protein 74 | Sjældent (1–4%) | I 1 tilstand |
| CLXNcalaxin | Sjældent (1–4%) | I 1 tilstand |
| DAW1dynein assembly factor with WD repeats 1 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF1dynein axonemal assembly factor 1 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF11dynein axonemal assembly factor 11 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF19dynein axonemal assembly factor 19 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF2dynein axonemal assembly factor 2 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF3dynein axonemal assembly factor 3 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF4dynein axonemal assembly factor 4 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF5dynein axonemal assembly factor 5 | Sjældent (1–4%) | I 1 tilstand |
| DNAAF6dynein axonemal assembly factor 6 | Sjældent (1–4%) | I 1 tilstand |
| DNAH1dynein axonemal heavy chain 1 | Sjældent (1–4%) | I 1 tilstand |
| DNAH11dynein axonemal heavy chain 11 | Sjældent (1–4%) | I 1 tilstand |
| DNAH5dynein axonemal heavy chain 5 | Sjældent (1–4%) | I 1 tilstand |
| DNAH7dynein axonemal heavy chain 7 | Sjældent (1–4%) | I 1 tilstand |
| DNAH9dynein axonemal heavy chain 9 | Sjældent (1–4%) | I 1 tilstand |
| DNAI1dynein axonemal intermediate chain 1 | Sjældent (1–4%) | I 1 tilstand |
| DNAI2dynein axonemal intermediate chain 2 | Sjældent (1–4%) | I 1 tilstand |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Sjældent (1–4%) | I 1 tilstand |
| DNAL1dynein axonemal light chain 1 | Sjældent (1–4%) | I 1 tilstand |
| DRC1dynein regulatory complex subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| DRC2dynein regulatory complex subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| DRC4dynein regulatory complex subunit 4 | Sjældent (1–4%) | I 1 tilstand |
| FOXJ1forkhead box J1 | Sjældent (1–4%) | I 1 tilstand |
| GAS2L2growth arrest specific 2 like 2 | Sjældent (1–4%) | I 1 tilstand |
| GATA3GATA binding protein 3 | Sjældent (1–4%) | I 1 tilstand |
| GRK1G protein-coupled receptor kinase 1 | Sjældent (1–4%) | I 1 tilstand |
| HSPD1heat shock protein family D (Hsp60) member 1 | Sjældent (1–4%) | I 1 tilstand |
| HYDINHYDIN axonemal central pair apparatus protein | Sjældent (1–4%) | I 1 tilstand |
| LRRC56leucine rich repeat containing 56 | Sjældent (1–4%) | I 1 tilstand |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Sjældent (1–4%) | I 1 tilstand |
| NEK10NIMA related kinase 10 | Sjældent (1–4%) | I 1 tilstand |
| NME5NME/NM23 family member 5 | Sjældent (1–4%) | I 1 tilstand |
| NME8NME/NM23 family member 8 | Sjældent (1–4%) | I 1 tilstand |
| ODAD1outer dynein arm docking complex subunit 1 | Sjældent (1–4%) | I 1 tilstand |
| ODAD2outer dynein arm docking complex subunit 2 | Sjældent (1–4%) | I 1 tilstand |
| ODAD3outer dynein arm docking complex subunit 3 | Sjældent (1–4%) | I 1 tilstand |
| ODAD4outer dynein arm docking complex subunit 4 | Sjældent (1–4%) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Sjældent (1–4%) | I 3 tilstande |
| RSPH1radial spoke head component 1 | Sjældent (1–4%) | I 1 tilstand |
| RSPH3radial spoke head 3 | Sjældent (1–4%) | I 1 tilstand |
| RSPH4Aradial spoke head component 4A | Sjældent (1–4%) | I 1 tilstand |
| RSPH9radial spoke head component 9 | Sjældent (1–4%) | I 1 tilstand |
| SPAG1sperm associated antigen 1 | Sjældent (1–4%) | I 1 tilstand |
| SPEF2sperm flagellar and cilia associated 2 | Sjældent (1–4%) | I 1 tilstand |
| STK36serine/threonine kinase 36 | Sjældent (1–4%) | I 1 tilstand |
| TTC12tetratricopeptide repeat domain 12 | Sjældent (1–4%) | I 1 tilstand |
| ZMYND10zinc finger MYND-type containing 10 | Sjældent (1–4%) | I 1 tilstand |
| ABCA4ATP binding cassette subfamily A member 4 | Ikke registreret | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Ikke registreret | I 1 tilstand |
| AHRaryl hydrocarbon receptor | Ikke registreret | I 1 tilstand |
| APTXaprataxin | Ikke registreret | I 1 tilstand |
| ATXN2ataxin 2 | Ikke registreret | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Ikke registreret | I 1 tilstand |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Ikke registreret | I 1 tilstand |
| BEST1bestrophin 1 | Ikke registreret | I 1 tilstand |
| CDHR1cadherin related family member 1 | Ikke registreret | I 1 tilstand |
| CERKLCERK like autophagy regulator | Ikke registreret | I 1 tilstand |
| CLDN19claudin 19 | Ikke registreret | I 1 tilstand |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Ikke registreret | I 1 tilstand |
| COQ2coenzyme Q2, polyprenyltransferase | Ikke registreret | I 1 tilstand |
| EYSEGF-like photoreceptor maintenance factor | Ikke registreret | I 1 tilstand |
| FAM161AFAM161 centrosomal protein A | Ikke registreret | I 1 tilstand |
| FSCN2fascin actin-bundling protein 2, retinal | Ikke registreret | I 1 tilstand |
| GUCA1Bguanylate cyclase activator 1B | Ikke registreret | I 1 tilstand |
| HMX1H6 family homeobox 1 | Ikke registreret | I 1 tilstand |
| IMPDH1inosine monophosphate dehydrogenase 1 | Ikke registreret | I 1 tilstand |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Ikke registreret | I 1 tilstand |
| IQCB1IQ motif containing B1 | Ikke registreret | I 1 tilstand |
| KIF3Bkinesin family member 3B | Ikke registreret | I 1 tilstand |
| MAKmale germ cell associated kinase | Ikke registreret | I 1 tilstand |
| MAPKAPK3MAPK activated protein kinase 3 | Ikke registreret | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ikke registreret | I 1 tilstand |
| PCAREphotoreceptor cilium actin regulator | Ikke registreret | I 1 tilstand |
| PDE6Aphosphodiesterase 6A | Ikke registreret | I 1 tilstand |
| PDE6Bphosphodiesterase 6B | Ikke registreret | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ikke registreret | I 1 tilstand |
| PRCDphotoreceptor disc component | Ikke registreret | I 1 tilstand |
| PROM1prominin 1 | Ikke registreret | I 1 tilstand |
| PRPF3pre-mRNA processing factor 3 | Ikke registreret | I 1 tilstand |
| PRPF31pre-mRNA processing factor 31 | Ikke registreret | I 1 tilstand |
| PRPF8pre-mRNA processing factor 8 | Ikke registreret | I 1 tilstand |
| PRPH2peripherin 2 | Ikke registreret | I 1 tilstand |
| RGRretinal G protein coupled receptor | Ikke registreret | I 1 tilstand |
| RP1RP1 axonemal microtubule associated | Ikke registreret | I 1 tilstand |
| RP2RP2 activator of ARL3 GTPase | Ikke registreret | I 1 tilstand |
| RP9RP9 pre-mRNA splicing factor | Ikke registreret | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Ikke registreret | I 1 tilstand |
| SEMA4Asemaphorin 4A | Ikke registreret | I 2 tilstande |
| SLC35A2solute carrier family 35 member A2 | Ikke registreret | I 1 tilstand |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Ikke registreret | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ikke registreret | I 1 tilstand |
| ZNF513zinc finger protein 513 | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
Bredere træk
Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
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