Požymis
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.
Santrauka
- Taip pat vadinama
- Retinitis pigmentosa, Rod cone dystrophy
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Rod-cone dystrophy, and the rest of your genome, with one test.
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Įsigyti savo Genome Test249 genų susiję su Rod-cone dystrophy
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Rod-cone dystrophy. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ACBD5acyl-CoA binding domain containing 5 | Visada | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Visada | 1 ligoje |
| AIPL1AIP like 1 HSP90 co-chaperone | Visada | 1 ligoje |
| AMACRalpha-methylacyl-CoA racemase | Visada | 1 ligoje |
| ARL2ARF like GTPase 2 | Visada | 1 ligoje |
| ARL2BPARF like GTPase 2 binding protein | Visada | 1 ligoje |
| ARL3ARF like GTPase 3 | Visada | 2 ligose |
| ARL6ARF like GTPase 6 | Visada | 4 ligose |
| BBIP1BBSome interacting protein 1 | Visada | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Visada | 1 ligoje |
| BBS10Bardet-Biedl syndrome 10 | Visada | 1 ligoje |
| BBS12Bardet-Biedl syndrome 12 | Visada | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Visada | 2 ligose |
| BBS9Bardet-Biedl syndrome 9 | Visada | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Visada | 1 ligoje |
| CCDC28Bcoiled-coil domain containing 28B | Visada | 1 ligoje |
| CEP290centrosomal protein 290 | Visada | 3 ligose |
| CFAP418cilia and flagella associated protein 418 | Visada | 3 ligose |
| CLRN1clarin 1 | Visada | 4 ligose |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Visada | 2 ligose |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Visada | 1 ligoje |
| CRB1crumbs cell polarity complex component 1 | Visada | 1 ligoje |
| CRXcone-rod homeobox | Visada | 1 ligoje |
| CTSDcathepsin D | Visada | 1 ligoje |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Visada | 1 ligoje |
| DHX38DEAH-box helicase 38 | Visada | 1 ligoje |
| FLVCR1FLVCR choline and heme transporter 1 | Visada | 2 ligose |
| GGCXgamma-glutamyl carboxylase | Visada | 1 ligoje |
| GNAT1G protein subunit alpha transducin 1 | Visada | 1 ligoje |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Visada | 2 ligose |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Visada | 1 ligoje |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| IFT27intraflagellar transport 27 | Visada | 1 ligoje |
| IFT74intraflagellar transport 74 | Visada | 1 ligoje |
| KIZkizuna centrosomal protein | Visada | 1 ligoje |
| KLC4kinesin light chain 4 | Visada | 1 ligoje |
| KLHL7kelch like family member 7 | Visada | 2 ligose |
| LAMB2laminin subunit beta 2 | Visada | 1 ligoje |
| LRATlecithin retinol acyltransferase | Visada | 2 ligose |
| LZTFL1leucine zipper transcription factor like 1 | Visada | 1 ligoje |
Rodyti dar 209 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| MERTKMER proto-oncogene, tyrosine kinase | Visada | 1 ligoje |
| MYO7Amyosin VIIA | Visada | 3 ligose |
| NDUFA9NADH:ubiquinone oxidoreductase subunit A9 | Visada | 1 ligoje |
| NEK2NIMA related kinase 2 | Visada | 1 ligoje |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Visada | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Visada | 3 ligose |
| PDE6Gphosphodiesterase 6G | Visada | 2 ligose |
| PEX12peroxisomal biogenesis factor 12 | Visada | 2 ligose |
| PEX2peroxisomal biogenesis factor 2 | Visada | 3 ligose |
| PEX7peroxisomal biogenesis factor 7 | Visada | 2 ligose |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Visada | 1 ligoje |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Visada | 1 ligoje |
| PRPF6pre-mRNA processing factor 6 | Visada | 1 ligoje |
| RBP3retinol binding protein 3 | Visada | 2 ligose |
| RDH11retinol dehydrogenase 11 | Visada | 2 ligose |
| REEP6receptor accessory protein 6 | Visada | 1 ligoje |
| RHOrhodopsin | Visada | 1 ligoje |
| ROM1retinal outer segment membrane protein 1 | Visada | 2 ligose |
| RRM2Bribonucleotide reductase regulatory TP53 inducible subunit M2B | Visada | 1 ligoje |
| SAGS-antigen visual arrestin | Visada | 3 ligose |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Visada | 1 ligoje |
| SLC7A14solute carrier family 7 member 14 | Visada | 1 ligoje |
| TMEM216transmembrane protein 216 | Visada | 1 ligoje |
| TMEM67transmembrane protein 67 | Visada | 3 ligose |
| TTC8tetratricopeptide repeat domain 8 | Visada | 2 ligose |
| TULP1TUB like protein 1 | Visada | 1 ligoje |
| UBAP1Lubiquitin associated protein 1 like | Visada | 1 ligoje |
| USH1CUSH1 protein network component harmonin | Visada | 3 ligose |
| VWA8von Willebrand factor A domain containing 8 | Visada | 1 ligoje |
| WDR19WD repeat domain 19 | Visada | 2 ligose |
| WHRNwhirlin | Visada | 2 ligose |
| ZNF408zinc finger protein 408 | Visada | 1 ligoje |
| ADGRV1adhesion G protein-coupled receptor V1 | Labai dažnai (80–99%) | 2 ligose |
| ARSGarylsulfatase G | Labai dažnai (80–99%) | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Labai dažnai (80–99%) | 1 ligoje |
| CDH23cadherin related 23 | Labai dažnai (80–99%) | 2 ligose |
| CEP78centrosomal protein 78 | Labai dažnai (80–99%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Labai dažnai (80–99%) | 1 ligoje |
| ESPNespin | Labai dažnai (80–99%) | 1 ligoje |
| HARS1histidyl-tRNA synthetase 1 | Labai dažnai (80–99%) | 1 ligoje |
| IFT54intraflagellar transport 54 | Labai dažnai (80–99%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Labai dažnai (80–99%) | 1 ligoje |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Labai dažnai (80–99%) | 1 ligoje |
| PCDH15protocadherin related 15 | Labai dažnai (80–99%) | 3 ligose |
| PDZD7PDZ domain containing 7 | Labai dažnai (80–99%) | 3 ligose |
| PEX1peroxisomal biogenesis factor 1 | Labai dažnai (80–99%) | 2 ligose |
| PEX10peroxisomal biogenesis factor 10 | Labai dažnai (80–99%) | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Labai dažnai (80–99%) | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Labai dažnai (80–99%) | 1 ligoje |
| PEX14peroxisomal biogenesis factor 14 | Labai dažnai (80–99%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Labai dažnai (80–99%) | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Labai dažnai (80–99%) | 1 ligoje |
| PEX26peroxisomal biogenesis factor 26 | Labai dažnai (80–99%) | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Labai dažnai (80–99%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Labai dažnai (80–99%) | 2 ligose |
| SH2B1SH2B adaptor protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| USH1GUSH1 protein network component sans | Labai dažnai (80–99%) | 2 ligose |
| USH2Ausherin | Labai dažnai (80–99%) | 3 ligose |
| ABHD12abhydrolase domain containing 12, lysophospholipase | Dažnai (30–79%) | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Dažnai (30–79%) | 1 ligoje |
| CWC27CWC27 spliceosome associated cyclophilin | Dažnai (30–79%) | 2 ligose |
| EXOSC2exosome component 2 | Dažnai (30–79%) | 1 ligoje |
| HK1hexokinase 1 | Dažnai (30–79%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Dažnai (30–79%) | 2 ligose |
| KIF5Akinesin family member 5A | Dažnai (30–79%) | 1 ligoje |
| MDH2malate dehydrogenase 2 | Dažnai (30–79%) | 1 ligoje |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Dažnai (30–79%) | 4 ligose |
| NDUFA1NADH:ubiquinone oxidoreductase subunit A1 | Dažnai (30–79%) | 1 ligoje |
| NPHP4nephrocystin 4 | Dažnai (30–79%) | 1 ligoje |
| NRLneural retina leucine zipper | Dažnai (30–79%) | 1 ligoje |
| PANK2pantothenate kinase 2 | Dažnai (30–79%) | 1 ligoje |
| RPL10ribosomal protein L10 | Dažnai (30–79%) | 2 ligose |
| TRNT1tRNA nucleotidyl transferase 1 | Dažnai (30–79%) | 1 ligoje |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Kartais (5–29%) | 1 ligoje |
| ASPAaspartoacylase | Kartais (5–29%) | 1 ligoje |
| ATP5F1AATP synthase F1 subunit alpha | Kartais (5–29%) | 1 ligoje |
| ATP5F1DATP synthase F1 subunit delta | Kartais (5–29%) | 1 ligoje |
| ATP5F1EATP synthase F1 subunit epsilon | Kartais (5–29%) | 1 ligoje |
| ATP5MKATP synthase membrane subunit k | Kartais (5–29%) | 1 ligoje |
| ATP5POATP synthase peripheral stalk subunit OSCP | Kartais (5–29%) | 1 ligoje |
| ATPAF2ATP synthase mitochondrial F1 complex assembly factor 2 | Kartais (5–29%) | 1 ligoje |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Kartais (5–29%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Kartais (5–29%) | 1 ligoje |
| FDXRferredoxin reductase | Kartais (5–29%) | 1 ligoje |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Kartais (5–29%) | 1 ligoje |
| MT-ATP8mitochondrially encoded ATP synthase membrane subunit 8 | Kartais (5–29%) | 1 ligoje |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Kartais (5–29%) | 1 ligoje |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Kartais (5–29%) | 1 ligoje |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Kartais (5–29%) | 1 ligoje |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Kartais (5–29%) | 1 ligoje |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Kartais (5–29%) | 1 ligoje |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Kartais (5–29%) | 1 ligoje |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Kartais (5–29%) | 1 ligoje |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Kartais (5–29%) | 1 ligoje |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Kartais (5–29%) | 1 ligoje |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Kartais (5–29%) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Kartais (5–29%) | 1 ligoje |
| MVKmevalonate kinase | Kartais (5–29%) | 1 ligoje |
| MYO6myosin VI | Kartais (5–29%) | 1 ligoje |
| PMM2phosphomannomutase 2 | Kartais (5–29%) | 2 ligose |
| POGZpogo transposable element derived with ZNF domain | Kartais (5–29%) | 2 ligose |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Kartais (5–29%) | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Kartais (5–29%) | 1 ligoje |
| SRD5A3steroid 5 alpha-reductase 3 | Kartais (5–29%) | 1 ligoje |
| TELO2telomere maintenance 2 | Kartais (5–29%) | 1 ligoje |
| TRIP13thyroid hormone receptor interactor 13 | Kartais (5–29%) | 1 ligoje |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Kartais (5–29%) | 2 ligose |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Retai (1–4 %) | 1 ligoje |
| BRWD1bromodomain and WD repeat domain containing 1 | Retai (1–4 %) | 1 ligoje |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Retai (1–4 %) | 1 ligoje |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Retai (1–4 %) | 1 ligoje |
| CCNOcyclin O | Retai (1–4 %) | 1 ligoje |
| CFAP221cilia and flagella associated protein 221 | Retai (1–4 %) | 1 ligoje |
| CFAP298cilia and flagella associated protein 298 | Retai (1–4 %) | 1 ligoje |
| CFAP300cilia and flagella associated protein 300 | Retai (1–4 %) | 1 ligoje |
| CFAP74cilia and flagella associated protein 74 | Retai (1–4 %) | 1 ligoje |
| CLXNcalaxin | Retai (1–4 %) | 1 ligoje |
| DAW1dynein assembly factor with WD repeats 1 | Retai (1–4 %) | 1 ligoje |
| DNAAF1dynein axonemal assembly factor 1 | Retai (1–4 %) | 1 ligoje |
| DNAAF11dynein axonemal assembly factor 11 | Retai (1–4 %) | 1 ligoje |
| DNAAF19dynein axonemal assembly factor 19 | Retai (1–4 %) | 1 ligoje |
| DNAAF2dynein axonemal assembly factor 2 | Retai (1–4 %) | 1 ligoje |
| DNAAF3dynein axonemal assembly factor 3 | Retai (1–4 %) | 1 ligoje |
| DNAAF4dynein axonemal assembly factor 4 | Retai (1–4 %) | 1 ligoje |
| DNAAF5dynein axonemal assembly factor 5 | Retai (1–4 %) | 1 ligoje |
| DNAAF6dynein axonemal assembly factor 6 | Retai (1–4 %) | 1 ligoje |
| DNAH1dynein axonemal heavy chain 1 | Retai (1–4 %) | 1 ligoje |
| DNAH11dynein axonemal heavy chain 11 | Retai (1–4 %) | 1 ligoje |
| DNAH5dynein axonemal heavy chain 5 | Retai (1–4 %) | 1 ligoje |
| DNAH7dynein axonemal heavy chain 7 | Retai (1–4 %) | 1 ligoje |
| DNAH9dynein axonemal heavy chain 9 | Retai (1–4 %) | 1 ligoje |
| DNAI1dynein axonemal intermediate chain 1 | Retai (1–4 %) | 1 ligoje |
| DNAI2dynein axonemal intermediate chain 2 | Retai (1–4 %) | 1 ligoje |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Retai (1–4 %) | 1 ligoje |
| DNAL1dynein axonemal light chain 1 | Retai (1–4 %) | 1 ligoje |
| DRC1dynein regulatory complex subunit 1 | Retai (1–4 %) | 1 ligoje |
| DRC2dynein regulatory complex subunit 2 | Retai (1–4 %) | 1 ligoje |
| DRC4dynein regulatory complex subunit 4 | Retai (1–4 %) | 1 ligoje |
| FOXJ1forkhead box J1 | Retai (1–4 %) | 1 ligoje |
| GAS2L2growth arrest specific 2 like 2 | Retai (1–4 %) | 1 ligoje |
| GATA3GATA binding protein 3 | Retai (1–4 %) | 1 ligoje |
| GRK1G protein-coupled receptor kinase 1 | Retai (1–4 %) | 1 ligoje |
| HSPD1heat shock protein family D (Hsp60) member 1 | Retai (1–4 %) | 1 ligoje |
| HYDINHYDIN axonemal central pair apparatus protein | Retai (1–4 %) | 1 ligoje |
| LRRC56leucine rich repeat containing 56 | Retai (1–4 %) | 1 ligoje |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Retai (1–4 %) | 1 ligoje |
| NEK10NIMA related kinase 10 | Retai (1–4 %) | 1 ligoje |
| NME5NME/NM23 family member 5 | Retai (1–4 %) | 1 ligoje |
| NME8NME/NM23 family member 8 | Retai (1–4 %) | 1 ligoje |
| ODAD1outer dynein arm docking complex subunit 1 | Retai (1–4 %) | 1 ligoje |
| ODAD2outer dynein arm docking complex subunit 2 | Retai (1–4 %) | 1 ligoje |
| ODAD3outer dynein arm docking complex subunit 3 | Retai (1–4 %) | 1 ligoje |
| ODAD4outer dynein arm docking complex subunit 4 | Retai (1–4 %) | 1 ligoje |
| RPGRretinitis pigmentosa GTPase regulator | Retai (1–4 %) | 3 ligose |
| RSPH1radial spoke head component 1 | Retai (1–4 %) | 1 ligoje |
| RSPH3radial spoke head 3 | Retai (1–4 %) | 1 ligoje |
| RSPH4Aradial spoke head component 4A | Retai (1–4 %) | 1 ligoje |
| RSPH9radial spoke head component 9 | Retai (1–4 %) | 1 ligoje |
| SPAG1sperm associated antigen 1 | Retai (1–4 %) | 1 ligoje |
| SPEF2sperm flagellar and cilia associated 2 | Retai (1–4 %) | 1 ligoje |
| STK36serine/threonine kinase 36 | Retai (1–4 %) | 1 ligoje |
| TTC12tetratricopeptide repeat domain 12 | Retai (1–4 %) | 1 ligoje |
| ZMYND10zinc finger MYND-type containing 10 | Retai (1–4 %) | 1 ligoje |
| ABCA4ATP binding cassette subfamily A member 4 | Neužfiksuota | 1 ligoje |
| ACOX1acyl-CoA oxidase 1 | Neužfiksuota | 1 ligoje |
| AHRaryl hydrocarbon receptor | Neužfiksuota | 1 ligoje |
| APTXaprataxin | Neužfiksuota | 1 ligoje |
| ATXN2ataxin 2 | Neužfiksuota | 1 ligoje |
| BBS4Bardet-Biedl syndrome 4 | Neužfiksuota | 1 ligoje |
| BCS1LBCS1 ubiquinol-cytochrome c reductase complex chaperone | Neužfiksuota | 1 ligoje |
| BEST1bestrophin 1 | Neužfiksuota | 1 ligoje |
| CDHR1cadherin related family member 1 | Neužfiksuota | 1 ligoje |
| CERKLCERK like autophagy regulator | Neužfiksuota | 1 ligoje |
| CLDN19claudin 19 | Neužfiksuota | 1 ligoje |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Neužfiksuota | 1 ligoje |
| COQ2coenzyme Q2, polyprenyltransferase | Neužfiksuota | 1 ligoje |
| EYSEGF-like photoreceptor maintenance factor | Neužfiksuota | 1 ligoje |
| FAM161AFAM161 centrosomal protein A | Neužfiksuota | 1 ligoje |
| FSCN2fascin actin-bundling protein 2, retinal | Neužfiksuota | 1 ligoje |
| GUCA1Bguanylate cyclase activator 1B | Neužfiksuota | 1 ligoje |
| HMX1H6 family homeobox 1 | Neužfiksuota | 1 ligoje |
| IMPDH1inosine monophosphate dehydrogenase 1 | Neužfiksuota | 1 ligoje |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Neužfiksuota | 1 ligoje |
| IQCB1IQ motif containing B1 | Neužfiksuota | 1 ligoje |
| KIF3Bkinesin family member 3B | Neužfiksuota | 1 ligoje |
| MAKmale germ cell associated kinase | Neužfiksuota | 1 ligoje |
| MAPKAPK3MAPK activated protein kinase 3 | Neužfiksuota | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Neužfiksuota | 1 ligoje |
| PCAREphotoreceptor cilium actin regulator | Neužfiksuota | 1 ligoje |
| PDE6Aphosphodiesterase 6A | Neužfiksuota | 1 ligoje |
| PDE6Bphosphodiesterase 6B | Neužfiksuota | 1 ligoje |
| PHYHphytanoyl-CoA 2-hydroxylase | Neužfiksuota | 1 ligoje |
| PRCDphotoreceptor disc component | Neužfiksuota | 1 ligoje |
| PROM1prominin 1 | Neužfiksuota | 1 ligoje |
| PRPF3pre-mRNA processing factor 3 | Neužfiksuota | 1 ligoje |
| PRPF31pre-mRNA processing factor 31 | Neužfiksuota | 1 ligoje |
| PRPF8pre-mRNA processing factor 8 | Neužfiksuota | 1 ligoje |
| PRPH2peripherin 2 | Neužfiksuota | 1 ligoje |
| RGRretinal G protein coupled receptor | Neužfiksuota | 1 ligoje |
| RP1RP1 axonemal microtubule associated | Neužfiksuota | 1 ligoje |
| RP2RP2 activator of ARL3 GTPase | Neužfiksuota | 1 ligoje |
| RP9RP9 pre-mRNA splicing factor | Neužfiksuota | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Neužfiksuota | 1 ligoje |
| SEMA4Asemaphorin 4A | Neužfiksuota | 2 ligose |
| SLC35A2solute carrier family 35 member A2 | Neužfiksuota | 1 ligoje |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Neužfiksuota | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Neužfiksuota | 1 ligoje |
| ZNF513zinc finger protein 513 | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
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