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Tunnus
Abnormal retinal pigmentation
Any deviation from the normal pigmentation of the retina.
Kokkuvõte
- Teised nimetused
- Abnormality of retinal pigment epithelium, Abnormality of retinal pigmentation, Abnormality of RPE, Retinal pigmentary anomaly
- Kehasüsteem
- Abnormality of the eye
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Selle lehe andmed
Lehe aadressile saab lisada .json või päringusse application/json, et lugeda seda JSON-vormingus.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-retinal-pigmentation.json"
page <- fromJSON(url)
page$trait$nameAbnormal retinal pigmentationHP:0007703
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Lugege välja geenid, mis on seotud Abnormal retinal pigmentation-ga, ja kogu ülejäänud genoom ühe testiga.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test236 geeni on seotud tunnusega Abnormal retinal pigmentation
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormal retinal pigmentation. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ADAM9ADAM metallopeptidase domain 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AGBL5AGBL carboxypeptidase 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AHI1Abelson helper integration site 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AHRaryl hydrocarbon receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| AIPL1AIP like 1 HSP90 co-chaperone | Väga sageli (80–99%) | Esineb 2 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Väga sageli (80–99%) | Esineb 2 haiguses |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARL2BPARF like GTPase 2 binding protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARL3ARF like GTPase 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ARL6ARF like GTPase 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ATF6activating transcription factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| BEST1bestrophin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CA4carbonic anhydrase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CABP4calcium binding protein 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Väga sageli (80–99%) | Esineb 1 haiguses |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDH3cadherin 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDHR1cadherin related family member 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CEP164centrosomal protein 164 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CERKLCERK like autophagy regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| CFAP20cilia and flagella associated protein 20 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CFAP410cilia and flagella associated protein 410 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CFAP418cilia and flagella associated protein 418 | Väga sageli (80–99%) | Esineb 2 haiguses |
| CHMCHM Rab escort protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLDN19claudin 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLRN1clarin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| COQ8Bcoenzyme Q8B | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRB1crumbs cell polarity complex component 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| CRXcone-rod homeobox | Väga sageli (80–99%) | Esineb 3 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 196 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| DHX38DEAH-box helicase 38 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DRAM2DNA damage regulated autophagy modulator 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EPG5ectopic P-granules 5 autophagy tethering factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| EYSEGF-like photoreceptor maintenance factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| FAM161AFAM161 centrosomal protein A | Väga sageli (80–99%) | Esineb 1 haiguses |
| FSCN2fascin actin-bundling protein 2, retinal | Väga sageli (80–99%) | Esineb 1 haiguses |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Väga sageli (80–99%) | Esineb 2 haiguses |
| GDF6growth differentiation factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GNAT2G protein subunit alpha transducin 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GUCA1Aguanylate cyclase activator 1A | Väga sageli (80–99%) | Esineb 2 haiguses |
| GUCA1Bguanylate cyclase activator 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| GUCY2Dguanylate cyclase 2D, retinal | Väga sageli (80–99%) | Esineb 2 haiguses |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Väga sageli (80–99%) | Esineb 1 haiguses |
| HKDC1hexokinase domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Väga sageli (80–99%) | Esineb 1 haiguses |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Väga sageli (80–99%) | Esineb 3 haiguses |
| IFT172intraflagellar transport 172 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IFT43intraflagellar transport 43 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT54intraflagellar transport 54 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IFT88intraflagellar transport 88 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IMPDH1inosine monophosphate dehydrogenase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| INVSinversin | Väga sageli (80–99%) | Esineb 1 haiguses |
| IQCB1IQ motif containing B1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Väga sageli (80–99%) | Esineb 2 haiguses |
| KIAA1549KIAA1549 | Väga sageli (80–99%) | Esineb 1 haiguses |
| KIZkizuna centrosomal protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| KLHL7kelch like family member 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| LCA5lebercilin LCA5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| LMNAlamin A/C | Väga sageli (80–99%) | Esineb 1 haiguses |
| LRATlecithin retinol acyltransferase | Väga sageli (80–99%) | Esineb 3 haiguses |
| MAKmale germ cell associated kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| MERTKMER proto-oncogene, tyrosine kinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| MFSD8major facilitator superfamily domain containing 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NEK2NIMA related kinase 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| NPHP1nephrocystin 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NPHP3nephrocystin 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NPHP4nephrocystin 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NRLneural retina leucine zipper | Väga sageli (80–99%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Väga sageli (80–99%) | Esineb 1 haiguses |
| OPN1LWopsin 1, long wave sensitive | Väga sageli (80–99%) | Esineb 2 haiguses |
| OPN1MWopsin 1, medium wave sensitive | Väga sageli (80–99%) | Esineb 2 haiguses |
| OTX2orthodenticle homeobox 2 | Väga sageli (80–99%) | Esineb 3 haiguses |
| PAX6paired box 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PCAREphotoreceptor cilium actin regulator | Väga sageli (80–99%) | Esineb 1 haiguses |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Väga sageli (80–99%) | Esineb 2 haiguses |
| PDE6Aphosphodiesterase 6A | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Bphosphodiesterase 6B | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Cphosphodiesterase 6C | Väga sageli (80–99%) | Esineb 1 haiguses |
| PDE6Gphosphodiesterase 6G | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PHYHphytanoyl-CoA 2-hydroxylase | Väga sageli (80–99%) | Esineb 1 haiguses |
| PITPNM3PITPNM family member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PLK4polo like kinase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PNPLA6patatin like domain 6, lysophospholipase | Väga sageli (80–99%) | Esineb 1 haiguses |
| POC1BPOC1 centriolar protein B | Väga sageli (80–99%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRCDphotoreceptor disc component | Väga sageli (80–99%) | Esineb 1 haiguses |
| PROM1prominin 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PRPF3pre-mRNA processing factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF31pre-mRNA processing factor 31 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF6pre-mRNA processing factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPF8pre-mRNA processing factor 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PRPH2peripherin 2 | Väga sageli (80–99%) | Esineb 4 haiguses |
| RAB28RAB28, member RAS oncogene family | Väga sageli (80–99%) | Esineb 1 haiguses |
| RAX2retina and anterior neural fold homeobox 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RBP3retinol binding protein 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RD3RD3 regulator of GUCY2D | Väga sageli (80–99%) | Esineb 1 haiguses |
| RDH12retinol dehydrogenase 12 | Väga sageli (80–99%) | Esineb 2 haiguses |
| REEP6receptor accessory protein 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RGRretinal G protein coupled receptor | Väga sageli (80–99%) | Esineb 1 haiguses |
| RHOrhodopsin | Väga sageli (80–99%) | Esineb 1 haiguses |
| RIMS1regulating synaptic membrane exocytosis 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RLBP1retinaldehyde binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNF216ring finger protein 216 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-1RNA, U6 small nuclear 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-2RNA, U6 small nuclear 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-8RNA, U6 small nuclear 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RNU6-9RNA, U6 small nuclear 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ROM1retinal outer segment membrane protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP1RP1 axonemal microtubule associated | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP1L1RP1 like 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP2RP2 activator of ARL3 GTPase | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP9RP9 pre-mRNA splicing factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| RPE65retinoid isomerohydrolase RPE65 | Väga sageli (80–99%) | Esineb 3 haiguses |
| RPGRretinitis pigmentosa GTPase regulator | Väga sageli (80–99%) | Esineb 2 haiguses |
| RPGRIP1RPGR interacting protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| SAGS-antigen visual arrestin | Väga sageli (80–99%) | Esineb 1 haiguses |
| SAXO6stabilizer of axonemal microtubules 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SCAPERS-phase cyclin A associated protein in the ER | Väga sageli (80–99%) | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SEMA4Asemaphorin 4A | Väga sageli (80–99%) | Esineb 2 haiguses |
| SLC45A2solute carrier family 45 member 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC7A14solute carrier family 7 member 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SPATA7spermatogenesis associated 7 | Väga sageli (80–99%) | Esineb 3 haiguses |
| TLCD3BTLC domain containing 3B | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTLL5tubulin tyrosine ligase like 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TUBTUB bipartite transcription factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| TUBB4Btubulin beta 4B class IVb | Väga sageli (80–99%) | Esineb 1 haiguses |
| TUBGCP4tubulin gamma complex component 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TUBGCP6tubulin gamma complex component 6 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TULP1TUB like protein 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| TYRtyrosinase | Väga sageli (80–99%) | Esineb 1 haiguses |
| UBAP1Lubiquitin associated protein 1 like | Väga sageli (80–99%) | Esineb 1 haiguses |
| UNC119unc-119 lipid binding chaperone | Väga sageli (80–99%) | Esineb 1 haiguses |
| USH2Ausherin | Väga sageli (80–99%) | Esineb 1 haiguses |
| USP45ubiquitin specific peptidase 45 | Väga sageli (80–99%) | Esineb 1 haiguses |
| WDR19WD repeat domain 19 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ZNF408zinc finger protein 408 | Väga sageli (80–99%) | Esineb 1 haiguses |
| ZNF513zinc finger protein 513 | Väga sageli (80–99%) | Esineb 1 haiguses |
| APCAPC regulator of Wnt signaling pathway | Sageli (30–79%) | Esineb 1 haiguses |
| CFHcomplement factor H | Sageli (30–79%) | Esineb 1 haiguses |
| CFIcomplement factor I | Sageli (30–79%) | Esineb 1 haiguses |
| COX7Bcytochrome c oxidase subunit 7B | Sageli (30–79%) | Esineb 1 haiguses |
| CPceruloplasmin | Sageli (30–79%) | Esineb 1 haiguses |
| CTNNB1catenin beta 1 | Sageli (30–79%) | Esineb 1 haiguses |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| ELMO2engulfment and cell motility 2 | Sageli (30–79%) | Esineb 1 haiguses |
| HCCSholocytochrome c synthase | Sageli (30–79%) | Esineb 1 haiguses |
| KIF11kinesin family member 11 | Sageli (30–79%) | Esineb 1 haiguses |
| LYSTlysosomal trafficking regulator | Sageli (30–79%) | Esineb 1 haiguses |
| MC1Rmelanocortin 1 receptor | Sageli (30–79%) | Esineb 1 haiguses |
| MTTPmicrosomal triglyceride transfer protein | Sageli (30–79%) | Esineb 1 haiguses |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Sageli (30–79%) | Esineb 1 haiguses |
| OCA2OCA2 melanosomal transmembrane protein | Sageli (30–79%) | Esineb 1 haiguses |
| PEPDpeptidase D | Sageli (30–79%) | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Sageli (30–79%) | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Sageli (30–79%) | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Sageli (30–79%) | Esineb 1 haiguses |
| RAB18RAB18, member RAS oncogene family | Sageli (30–79%) | Esineb 1 haiguses |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Sageli (30–79%) | Esineb 1 haiguses |
| SUMF1sulfatase modifying factor 1 | Sageli (30–79%) | Esineb 1 haiguses |
| TBC1D20TBC1 domain family member 20 | Sageli (30–79%) | Esineb 1 haiguses |
| TNFRSF11ATNF receptor superfamily member 11a | Sageli (30–79%) | Esineb 1 haiguses |
| TNFRSF11BTNF receptor superfamily member 11b | Sageli (30–79%) | Esineb 1 haiguses |
| WRNWRN RecQ like helicase | Sageli (30–79%) | Esineb 1 haiguses |
| AKT1AKT serine/threonine kinase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CBScystathionine beta-synthase | Mõnikord (5–29%) | Esineb 1 haiguses |
| CEP120centrosomal protein 120 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2I1dynein 2 intermediate chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2I2dynein 2 intermediate chain 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EDN3endothelin 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| EDNRBendothelin receptor type B | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC5ERCC excision repair 5, endonuclease | Mõnikord (5–29%) | Esineb 1 haiguses |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| IFT80intraflagellar transport 80 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KIAA0753KIAA0753 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MCOLN1mucolipin TRP cation channel 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MFRPmembrane frizzled-related protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| MITFmelanocyte inducing transcription factor | Mõnikord (5–29%) | Esineb 1 haiguses |
| MORC2MORC family CW-type zinc finger 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| PRSS56serine protease 56 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RAXretina and anterior neural fold homeobox | Mõnikord (5–29%) | Esineb 1 haiguses |
| RPS6KA3ribosomal protein S6 kinase A3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SIX6SIX homeobox 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC12A6solute carrier family 12 member 6 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX10SRY-box transcription factor 10 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SOX2SRY-box transcription factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TAF2TATA-box binding protein associated factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TMEM98transmembrane protein 98 | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTC21Btetratricopeptide repeat domain 21B | Mõnikord (5–29%) | Esineb 1 haiguses |
| TTPAalpha tocopherol transfer protein | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS13Bvacuolar protein sorting 13 homolog B | Mõnikord (5–29%) | Esineb 1 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Mõnikord (5–29%) | Esineb 1 haiguses |
| FLNBfilamin B | Harva (1–4%) | Esineb 1 haiguses |
| IDSiduronate 2-sulfatase | Pole registreeritud | Esineb 1 haiguses |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.17-8666dff2.
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