Tunnus
Difficulties with night vision
Kliiniline nimetus: Nyctalopia
Inability to see well at night or in poor light.
Kokkuvõte
- Teised nimetused
- Night blindness, Night-blindness, Poor night vision
- Kehasüsteem
- Abnormality of the eye
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Difficulties with night vision, and the rest of your genome, with one test.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast
Telli oma Genome Test232 geeni on seotud tunnusega Difficulties with night vision
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Difficulties with night vision. 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 |
|---|---|---|
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Alati | Esineb 2 haiguses |
| ARL3ARF like GTPase 3 | Alati | Esineb 3 haiguses |
| ARL6ARF like GTPase 6 | Alati | Esineb 5 haiguses |
| ARSGarylsulfatase G | Alati | Esineb 2 haiguses |
| BBS1Bardet-Biedl syndrome 1 | Alati | Esineb 3 haiguses |
| BBS2Bardet-Biedl syndrome 2 | Alati | Esineb 3 haiguses |
| BBS4Bardet-Biedl syndrome 4 | Alati | Esineb 2 haiguses |
| BBS5Bardet-Biedl syndrome 5 | Alati | Esineb 2 haiguses |
| CCDC28Bcoiled-coil domain containing 28B | Alati | Esineb 1 haiguses |
| CFAP20cilia and flagella associated protein 20 | Alati | Esineb 2 haiguses |
| CFAP410cilia and flagella associated protein 410 | Alati | Esineb 2 haiguses |
| CHMCHM Rab escort protein | Alati | Esineb 2 haiguses |
| CLEC3BC-type lectin domain family 3 member B | Alati | Esineb 1 haiguses |
| CLN3CLN3 lysosomal/endosomal transmembrane protein, battenin | Alati | Esineb 1 haiguses |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Alati | Esineb 3 haiguses |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Alati | Esineb 2 haiguses |
| CWC27CWC27 spliceosome associated cyclophilin | Alati | Esineb 2 haiguses |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Alati | Esineb 2 haiguses |
| DHX38DEAH-box helicase 38 | Alati | Esineb 2 haiguses |
| ESPNespin | Alati | Esineb 2 haiguses |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Alati | Esineb 3 haiguses |
| GGCXgamma-glutamyl carboxylase | Alati | Esineb 1 haiguses |
| GRM6glutamate metabotropic receptor 6 | Alati | Esineb 1 haiguses |
| GUCY2Dguanylate cyclase 2D, retinal | Alati | Esineb 5 haiguses |
| HKDC1hexokinase domain containing 1 | Alati | Esineb 2 haiguses |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Alati | Esineb 2 haiguses |
| IDH3Gisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma | Alati | Esineb 1 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 2 haiguses |
| IFT172intraflagellar transport 172 | Alati | Esineb 5 haiguses |
| IFT43intraflagellar transport 43 | Alati | Esineb 2 haiguses |
| IMPDH1inosine monophosphate dehydrogenase 1 | Alati | Esineb 2 haiguses |
| KIAA1549KIAA1549 | Alati | Esineb 2 haiguses |
| KIZkizuna centrosomal protein | Alati | Esineb 2 haiguses |
| LRIT3leucine rich repeat, Ig-like and transmembrane domains 3 | Alati | Esineb 1 haiguses |
| MERTKMER proto-oncogene, tyrosine kinase | Alati | Esineb 2 haiguses |
| MFRPmembrane frizzled-related protein | Alati | Esineb 1 haiguses |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Alati | Esineb 3 haiguses |
| NRLneural retina leucine zipper | Alati | Esineb 3 haiguses |
| OATornithine aminotransferase | Alati | Esineb 1 haiguses |
| PDE6Aphosphodiesterase 6A | Alati | Esineb 2 haiguses |
Näita veel 192 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| PDE6Bphosphodiesterase 6B | Alati | Esineb 2 haiguses |
| PEX7peroxisomal biogenesis factor 7 | Alati | Esineb 3 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Alati | Esineb 2 haiguses |
| PRPF6pre-mRNA processing factor 6 | Alati | Esineb 2 haiguses |
| RBP4retinol binding protein 4 | Alati | Esineb 1 haiguses |
| RDH11retinol dehydrogenase 11 | Alati | Esineb 1 haiguses |
| REEP6receptor accessory protein 6 | Alati | Esineb 2 haiguses |
| RHOrhodopsin | Alati | Esineb 4 haiguses |
| RLBP1retinaldehyde binding protein 1 | Alati | Esineb 6 haiguses |
| RNU6ATACRNA, U6atac small nuclear | Alati | Esineb 1 haiguses |
| RP1L1RP1 like 1 | Alati | Esineb 2 haiguses |
| RPE65retinoid isomerohydrolase RPE65 | Alati | Esineb 4 haiguses |
| RPGRretinitis pigmentosa GTPase regulator | Alati | Esineb 4 haiguses |
| SCAPERS-phase cyclin A associated protein in the ER | Alati | Esineb 3 haiguses |
| SLC7A14solute carrier family 7 member 14 | Alati | Esineb 2 haiguses |
| TBC1D32TBC1 domain family member 32 | Alati | Esineb 1 haiguses |
| TMEM216transmembrane protein 216 | Alati | Esineb 2 haiguses |
| TRNT1tRNA nucleotidyl transferase 1 | Alati | Esineb 1 haiguses |
| TULP1TUB like protein 1 | Alati | Esineb 3 haiguses |
| UBAP1Lubiquitin associated protein 1 like | Alati | Esineb 2 haiguses |
| VWA8von Willebrand factor A domain containing 8 | Alati | Esineb 1 haiguses |
| WHRNwhirlin | Alati | Esineb 2 haiguses |
| YARS1tyrosyl-tRNA synthetase 1 | Alati | Esineb 1 haiguses |
| ZNF408zinc finger protein 408 | Alati | Esineb 2 haiguses |
| ZNF513zinc finger protein 513 | Alati | Esineb 2 haiguses |
| ABCA4ATP binding cassette subfamily A member 4 | Väga sageli (80–99%) | Esineb 4 haiguses |
| ADAM9ADAM metallopeptidase domain 9 | Väga sageli (80–99%) | Esineb 1 haiguses |
| AIPL1AIP like 1 HSP90 co-chaperone | Väga sageli (80–99%) | Esineb 3 haiguses |
| ATF6activating transcription factor 6 | Väga sageli (80–99%) | Esineb 1 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 |
| CDH23cadherin related 23 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CDHR1cadherin related family member 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| CEP78centrosomal protein 78 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CFAP418cilia and flagella associated protein 418 | Väga sageli (80–99%) | Esineb 5 haiguses |
| CLRN1clarin 1 | Väga sageli (80–99%) | Esineb 5 haiguses |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| CRXcone-rod homeobox | Väga sageli (80–99%) | Esineb 4 haiguses |
| DRAM2DNA damage regulated autophagy modulator 2 | Väga sageli (80–99%) | Esineb 2 haiguses |
| ELOVL4ELOVL fatty acid elongase 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GUCA1Aguanylate cyclase activator 1A | Väga sageli (80–99%) | Esineb 2 haiguses |
| HARS1histidyl-tRNA synthetase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Väga sageli (80–99%) | Esineb 2 haiguses |
| MAKmale germ cell associated kinase | Väga sageli (80–99%) | Esineb 2 haiguses |
| MFSD8major facilitator superfamily domain containing 8 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MT-TS2mitochondrially encoded tRNA-Ser (AGU/C) 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| MYO7Amyosin VIIA | Väga sageli (80–99%) | Esineb 2 haiguses |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| OPN1LWopsin 1, long wave sensitive | Väga sageli (80–99%) | Esineb 1 haiguses |
| OPN1MWopsin 1, medium wave sensitive | Väga sageli (80–99%) | Esineb 1 haiguses |
| PCDH15protocadherin related 15 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX10peroxisomal biogenesis factor 10 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX11Bperoxisomal biogenesis factor 11 beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX12peroxisomal biogenesis factor 12 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX13peroxisomal biogenesis factor 13 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX14peroxisomal biogenesis factor 14 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX16peroxisomal biogenesis factor 16 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX19peroxisomal biogenesis factor 19 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX2peroxisomal biogenesis factor 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX26peroxisomal biogenesis factor 26 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX3peroxisomal biogenesis factor 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX5peroxisomal biogenesis factor 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PEX6peroxisomal biogenesis factor 6 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PITPNM3PITPNM family member 3 | Väga sageli (80–99%) | Esineb 1 haiguses |
| POC1BPOC1 centriolar protein B | Väga sageli (80–99%) | Esineb 1 haiguses |
| PROM1prominin 1 | Väga sageli (80–99%) | Esineb 5 haiguses |
| PRPF31pre-mRNA processing factor 31 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PRPF8pre-mRNA processing factor 8 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PRPH2peripherin 2 | Väga sageli (80–99%) | Esineb 9 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 |
| RDH5retinol dehydrogenase 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| RIMS1regulating synaptic membrane exocytosis 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| RP1RP1 axonemal microtubule associated | Väga sageli (80–99%) | Esineb 2 haiguses |
| RPGRIP1RPGR interacting protein 1 | Väga sageli (80–99%) | Esineb 3 haiguses |
| SEMA4Asemaphorin 4A | Väga sageli (80–99%) | Esineb 4 haiguses |
| TLCD3BTLC domain containing 3B | Väga sageli (80–99%) | Esineb 1 haiguses |
| TTLL5tubulin tyrosine ligase like 5 | Väga sageli (80–99%) | Esineb 1 haiguses |
| UNC119unc-119 lipid binding chaperone | Väga sageli (80–99%) | Esineb 2 haiguses |
| USH1CUSH1 protein network component harmonin | Väga sageli (80–99%) | Esineb 1 haiguses |
| USH1GUSH1 protein network component sans | Väga sageli (80–99%) | Esineb 1 haiguses |
| VPS13Bvacuolar protein sorting 13 homolog B | Väga sageli (80–99%) | Esineb 1 haiguses |
| ADGRV1adhesion G protein-coupled receptor V1 | Sageli (30–79%) | Esineb 1 haiguses |
| AGBL1AGBL carboxypeptidase 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AGBL5AGBL carboxypeptidase 5 | Sageli (30–79%) | Esineb 2 haiguses |
| AHI1Abelson helper integration site 1 | Sageli (30–79%) | Esineb 1 haiguses |
| AHRaryl hydrocarbon receptor | Sageli (30–79%) | Esineb 1 haiguses |
| ALMS1ALMS1 centrosome and basal body associated protein | Sageli (30–79%) | Esineb 1 haiguses |
| ARL2BPARF like GTPase 2 binding protein | Sageli (30–79%) | Esineb 1 haiguses |
| BBIP1BBSome interacting protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS10Bardet-Biedl syndrome 10 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS12Bardet-Biedl syndrome 12 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS7Bardet-Biedl syndrome 7 | Sageli (30–79%) | Esineb 1 haiguses |
| BBS9Bardet-Biedl syndrome 9 | Sageli (30–79%) | Esineb 1 haiguses |
| BEST1bestrophin 1 | Sageli (30–79%) | Esineb 3 haiguses |
| C1QTNF5C1q and TNF related 5 | Sageli (30–79%) | Esineb 1 haiguses |
| CA4carbonic anhydrase 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CABP4calcium binding protein 4 | Sageli (30–79%) | Esineb 1 haiguses |
| CC2D2Acoiled-coil and C2 domain containing 2A | Sageli (30–79%) | Esineb 1 haiguses |
| CEP19centrosomal protein 19 | Sageli (30–79%) | Esineb 1 haiguses |
| CEP290centrosomal protein 290 | Sageli (30–79%) | Esineb 1 haiguses |
| CERKLCERK like autophagy regulator | Sageli (30–79%) | Esineb 1 haiguses |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Sageli (30–79%) | Esineb 1 haiguses |
| COG4component of oligomeric golgi complex 4 | Sageli (30–79%) | Esineb 1 haiguses |
| COL8A2collagen type VIII alpha 2 chain | Sageli (30–79%) | Esineb 1 haiguses |
| COQ8Bcoenzyme Q8B | Sageli (30–79%) | Esineb 1 haiguses |
| CRB1crumbs cell polarity complex component 1 | Sageli (30–79%) | Esineb 2 haiguses |
| CYP4V2cytochrome P450 family 4 subfamily V member 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EXOSC2exosome component 2 | Sageli (30–79%) | Esineb 1 haiguses |
| EYSEGF-like photoreceptor maintenance factor | Sageli (30–79%) | Esineb 2 haiguses |
| FAM161AFAM161 centrosomal protein A | Sageli (30–79%) | Esineb 2 haiguses |
| FDXRferredoxin reductase | Sageli (30–79%) | Esineb 1 haiguses |
| FLVCR1FLVCR choline and heme transporter 1 | Sageli (30–79%) | Esineb 2 haiguses |
| FSCN2fascin actin-bundling protein 2, retinal | Sageli (30–79%) | Esineb 2 haiguses |
| GNB3G protein subunit beta 3 | Sageli (30–79%) | Esineb 1 haiguses |
| GNSglucosamine (N-acetyl)-6-sulfatase | Sageli (30–79%) | Esineb 1 haiguses |
| GUCA1Bguanylate cyclase activator 1B | Sageli (30–79%) | Esineb 1 haiguses |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Sageli (30–79%) | Esineb 1 haiguses |
| IFT27intraflagellar transport 27 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT74intraflagellar transport 74 | Sageli (30–79%) | Esineb 1 haiguses |
| IFT88intraflagellar transport 88 | Sageli (30–79%) | Esineb 1 haiguses |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Sageli (30–79%) | Esineb 1 haiguses |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Sageli (30–79%) | Esineb 2 haiguses |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Sageli (30–79%) | Esineb 2 haiguses |
| KLHL7kelch like family member 7 | Sageli (30–79%) | Esineb 1 haiguses |
| LCA5lebercilin LCA5 | Sageli (30–79%) | Esineb 1 haiguses |
| LRATlecithin retinol acyltransferase | Sageli (30–79%) | Esineb 4 haiguses |
| LZTFL1leucine zipper transcription factor like 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MKKSMKKS centrosomal shuttling protein | Sageli (30–79%) | Esineb 1 haiguses |
| MKS1MKS transition zone complex subunit 1 | Sageli (30–79%) | Esineb 1 haiguses |
| MTTPmicrosomal triglyceride transfer protein | Sageli (30–79%) | Esineb 1 haiguses |
| NEK2NIMA related kinase 2 | Sageli (30–79%) | Esineb 1 haiguses |
| NPHP1nephrocystin 1 | Sageli (30–79%) | Esineb 1 haiguses |
| OFD1OFD1 centriole and centriolar satellite protein | Sageli (30–79%) | Esineb 1 haiguses |
| OTX2orthodenticle homeobox 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PCAREphotoreceptor cilium actin regulator | Sageli (30–79%) | Esineb 2 haiguses |
| PDE6Gphosphodiesterase 6G | Sageli (30–79%) | Esineb 2 haiguses |
| PDZD7PDZ domain containing 7 | Sageli (30–79%) | Esineb 1 haiguses |
| PHYHphytanoyl-CoA 2-hydroxylase | Sageli (30–79%) | Esineb 2 haiguses |
| PRCDphotoreceptor disc component | Sageli (30–79%) | Esineb 1 haiguses |
| PRPF3pre-mRNA processing factor 3 | Sageli (30–79%) | Esineb 2 haiguses |
| RBP3retinol binding protein 3 | Sageli (30–79%) | Esineb 3 haiguses |
| RDH12retinol dehydrogenase 12 | Sageli (30–79%) | Esineb 1 haiguses |
| RGRretinal G protein coupled receptor | Sageli (30–79%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU4ATACRNA, U4atac small nuclear | Sageli (30–79%) | Esineb 1 haiguses |
| RNU6-1RNA, U6 small nuclear 1 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU6-2RNA, U6 small nuclear 2 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU6-8RNA, U6 small nuclear 8 | Sageli (30–79%) | Esineb 1 haiguses |
| RNU6-9RNA, U6 small nuclear 9 | Sageli (30–79%) | Esineb 1 haiguses |
| ROM1retinal outer segment membrane protein 1 | Sageli (30–79%) | Esineb 3 haiguses |
| RP2RP2 activator of ARL3 GTPase | Sageli (30–79%) | Esineb 2 haiguses |
| RP9RP9 pre-mRNA splicing factor | Sageli (30–79%) | Esineb 2 haiguses |
| SAGS-antigen visual arrestin | Sageli (30–79%) | Esineb 2 haiguses |
| SAXO6stabilizer of axonemal microtubules 6 | Sageli (30–79%) | Esineb 1 haiguses |
| SCLT1sodium channel and clathrin linker 1 | Sageli (30–79%) | Esineb 1 haiguses |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Sageli (30–79%) | Esineb 1 haiguses |
| SLC4A11solute carrier family 4 member 11 | Sageli (30–79%) | Esineb 1 haiguses |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Sageli (30–79%) | Esineb 2 haiguses |
| SPATA7spermatogenesis associated 7 | Sageli (30–79%) | Esineb 3 haiguses |
| TCF4transcription factor 4 | Sageli (30–79%) | Esineb 1 haiguses |
| TIMP3TIMP metallopeptidase inhibitor 3 | Sageli (30–79%) | Esineb 1 haiguses |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Sageli (30–79%) | Esineb 1 haiguses |
| TRIM32tripartite motif containing 32 | Sageli (30–79%) | Esineb 1 haiguses |
| TTC8tetratricopeptide repeat domain 8 | Sageli (30–79%) | Esineb 3 haiguses |
| TTPAalpha tocopherol transfer protein | Sageli (30–79%) | Esineb 1 haiguses |
| TUBTUB bipartite transcription factor | Sageli (30–79%) | Esineb 1 haiguses |
| USH2Ausherin | Sageli (30–79%) | Esineb 2 haiguses |
| VCANversican | Sageli (30–79%) | Esineb 1 haiguses |
| WDPCPWD repeat containing planar cell polarity effector | Sageli (30–79%) | Esineb 1 haiguses |
| WDR19WD repeat domain 19 | Sageli (30–79%) | Esineb 1 haiguses |
| ZEB1zinc finger E-box binding homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Mõnikord (5–29%) | Esineb 1 haiguses |
| HSD3B7hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ITM2Bintegral membrane protein 2B | Mõnikord (5–29%) | Esineb 1 haiguses |
| LAMP2lysosome associated membrane protein 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MMP19matrix metallopeptidase 19 | Mõnikord (5–29%) | Esineb 1 haiguses |
| RS1retinoschisin 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| STIM1stromal interaction molecule 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZPR1ZPR1 zinc finger | Mõnikord (5–29%) | Esineb 1 haiguses |
| ACBD6acyl-CoA binding domain containing 6 | Harva (1–4%) | Esineb 1 haiguses |
| MFN2mitofusin 2 | Harva (1–4%) | Esineb 1 haiguses |
| CLCC1chloride channel CLIC like 1 | Pole registreeritud | Esineb 1 haiguses |
| HK1hexokinase 1 | Pole registreeritud | Esineb 1 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Pole registreeritud | Esineb 1 haiguses |
| KCNV2potassium voltage-gated channel modifier subfamily V member 2 | Pole registreeritud | Esineb 1 haiguses |
| KIF3Bkinesin family member 3B | Pole registreeritud | Esineb 1 haiguses |
| MVKmevalonate kinase | 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 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast