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Piirre
Abnormal retinal pigmentation
Any deviation from the normal pigmentation of the retina.
Yhteenveto
- Tunnetaan myös nimellä
- Abnormality of retinal pigment epithelium, Abnormality of retinal pigmentation, Abnormality of RPE, Retinal pigmentary anomaly
- Elimistön järjestelmä
- Abnormality of the eye
Abnormal retinal pigmentationHP:0007703
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Read the genes linked to Abnormal retinal pigmentation, and the rest of your genome, with one test.
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Tilaa Genome Test236 geeniä, jotka liittyvät piirteeseen Abnormal retinal pigmentation
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Abnormal retinal pigmentation esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| ADAM9ADAM metallopeptidase domain 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| AGBL5AGBL carboxypeptidase 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| AHI1Abelson helper integration site 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| AHRaryl hydrocarbon receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| AIPL1AIP like 1 HSP90 co-chaperone | Hyvin usein (80–99%) | 2 sairaudessa |
| ALMS1ALMS1 centrosome and basal body associated protein | Hyvin usein (80–99%) | 2 sairaudessa |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL2BPARF like GTPase 2 binding protein | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL3ARF like GTPase 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| ARL6ARF like GTPase 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| ATF6activating transcription factor 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| BBS1Bardet-Biedl syndrome 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| BBS2Bardet-Biedl syndrome 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| BEST1bestrophin 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CA4carbonic anhydrase 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| CABP4calcium binding protein 4 | Hyvin usein (80–99%) | 2 sairaudessa |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Hyvin usein (80–99%) | 1 sairaudessa |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| CC2D2Acoiled-coil and C2 domain containing 2A | Hyvin usein (80–99%) | 1 sairaudessa |
| CDH3cadherin 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| CDHR1cadherin related family member 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| CEP164centrosomal protein 164 | Hyvin usein (80–99%) | 1 sairaudessa |
| CEP290centrosomal protein 290 | Hyvin usein (80–99%) | 2 sairaudessa |
| CERKLCERK like autophagy regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| CFAP20cilia and flagella associated protein 20 | Hyvin usein (80–99%) | 1 sairaudessa |
| CFAP410cilia and flagella associated protein 410 | Hyvin usein (80–99%) | 1 sairaudessa |
| CFAP418cilia and flagella associated protein 418 | Hyvin usein (80–99%) | 2 sairaudessa |
| CHMCHM Rab escort protein | Hyvin usein (80–99%) | 1 sairaudessa |
| CLDN19claudin 19 | Hyvin usein (80–99%) | 1 sairaudessa |
| CLRN1clarin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| COQ8Bcoenzyme Q8B | Hyvin usein (80–99%) | 1 sairaudessa |
| CRB1crumbs cell polarity complex component 1 | Hyvin usein (80–99%) | 3 sairaudessa |
| CRXcone-rod homeobox | Hyvin usein (80–99%) | 3 sairaudessa |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Hyvin usein (80–99%) | 1 sairaudessa |
Näytä 196 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| DHX38DEAH-box helicase 38 | Hyvin usein (80–99%) | 1 sairaudessa |
| DRAM2DNA damage regulated autophagy modulator 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| EPG5ectopic P-granules 5 autophagy tethering factor | Hyvin usein (80–99%) | 1 sairaudessa |
| EYSEGF-like photoreceptor maintenance factor | Hyvin usein (80–99%) | 1 sairaudessa |
| FAM161AFAM161 centrosomal protein A | Hyvin usein (80–99%) | 1 sairaudessa |
| FSCN2fascin actin-bundling protein 2, retinal | Hyvin usein (80–99%) | 1 sairaudessa |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Hyvin usein (80–99%) | 2 sairaudessa |
| GDF6growth differentiation factor 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| GNAT2G protein subunit alpha transducin 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| GUCA1Aguanylate cyclase activator 1A | Hyvin usein (80–99%) | 2 sairaudessa |
| GUCA1Bguanylate cyclase activator 1B | Hyvin usein (80–99%) | 1 sairaudessa |
| GUCY2Dguanylate cyclase 2D, retinal | Hyvin usein (80–99%) | 2 sairaudessa |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Hyvin usein (80–99%) | 1 sairaudessa |
| HKDC1hexokinase domain containing 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT140intraflagellar transport 140 | Hyvin usein (80–99%) | 3 sairaudessa |
| IFT172intraflagellar transport 172 | Hyvin usein (80–99%) | 2 sairaudessa |
| IFT43intraflagellar transport 43 | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT54intraflagellar transport 54 | Hyvin usein (80–99%) | 1 sairaudessa |
| IFT88intraflagellar transport 88 | Hyvin usein (80–99%) | 1 sairaudessa |
| IMPDH1inosine monophosphate dehydrogenase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| INVSinversin | Hyvin usein (80–99%) | 1 sairaudessa |
| IQCB1IQ motif containing B1 | Hyvin usein (80–99%) | 2 sairaudessa |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Hyvin usein (80–99%) | 2 sairaudessa |
| KIAA1549KIAA1549 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIZkizuna centrosomal protein | Hyvin usein (80–99%) | 1 sairaudessa |
| KLHL7kelch like family member 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| LCA5lebercilin LCA5 | Hyvin usein (80–99%) | 2 sairaudessa |
| LMNAlamin A/C | Hyvin usein (80–99%) | 1 sairaudessa |
| LRATlecithin retinol acyltransferase | Hyvin usein (80–99%) | 3 sairaudessa |
| MAKmale germ cell associated kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| MERTKMER proto-oncogene, tyrosine kinase | Hyvin usein (80–99%) | 1 sairaudessa |
| MFSD8major facilitator superfamily domain containing 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| NEK2NIMA related kinase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| NPHP1nephrocystin 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| NPHP3nephrocystin 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| NPHP4nephrocystin 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| NRLneural retina leucine zipper | Hyvin usein (80–99%) | 1 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Hyvin usein (80–99%) | 1 sairaudessa |
| OPN1LWopsin 1, long wave sensitive | Hyvin usein (80–99%) | 2 sairaudessa |
| OPN1MWopsin 1, medium wave sensitive | Hyvin usein (80–99%) | 2 sairaudessa |
| OTX2orthodenticle homeobox 2 | Hyvin usein (80–99%) | 3 sairaudessa |
| PAX6paired box 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| PCAREphotoreceptor cilium actin regulator | Hyvin usein (80–99%) | 1 sairaudessa |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Hyvin usein (80–99%) | 2 sairaudessa |
| PDE6Aphosphodiesterase 6A | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Bphosphodiesterase 6B | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Cphosphodiesterase 6C | Hyvin usein (80–99%) | 1 sairaudessa |
| PDE6Gphosphodiesterase 6G | Hyvin usein (80–99%) | 1 sairaudessa |
| PEX7peroxisomal biogenesis factor 7 | Hyvin usein (80–99%) | 1 sairaudessa |
| PHYHphytanoyl-CoA 2-hydroxylase | Hyvin usein (80–99%) | 1 sairaudessa |
| PITPNM3PITPNM family member 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| PLK4polo like kinase 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| PNPLA6patatin like domain 6, lysophospholipase | Hyvin usein (80–99%) | 1 sairaudessa |
| POC1BPOC1 centriolar protein B | Hyvin usein (80–99%) | 1 sairaudessa |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Hyvin usein (80–99%) | 1 sairaudessa |
| PRCDphotoreceptor disc component | Hyvin usein (80–99%) | 1 sairaudessa |
| PROM1prominin 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| PRPF3pre-mRNA processing factor 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF31pre-mRNA processing factor 31 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF6pre-mRNA processing factor 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPF8pre-mRNA processing factor 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| PRPH2peripherin 2 | Hyvin usein (80–99%) | 4 sairaudessa |
| RAB28RAB28, member RAS oncogene family | Hyvin usein (80–99%) | 1 sairaudessa |
| RAX2retina and anterior neural fold homeobox 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RBP3retinol binding protein 3 | Hyvin usein (80–99%) | 1 sairaudessa |
| RD3RD3 regulator of GUCY2D | Hyvin usein (80–99%) | 1 sairaudessa |
| RDH12retinol dehydrogenase 12 | Hyvin usein (80–99%) | 2 sairaudessa |
| REEP6receptor accessory protein 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| RGRretinal G protein coupled receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| RHOrhodopsin | Hyvin usein (80–99%) | 1 sairaudessa |
| RIMS1regulating synaptic membrane exocytosis 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RLBP1retinaldehyde binding protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Hyvin usein (80–99%) | 1 sairaudessa |
| RNF216ring finger protein 216 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU4-2RNA, U4 small nuclear 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-1RNA, U6 small nuclear 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-2RNA, U6 small nuclear 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-8RNA, U6 small nuclear 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| RNU6-9RNA, U6 small nuclear 9 | Hyvin usein (80–99%) | 1 sairaudessa |
| ROM1retinal outer segment membrane protein 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RP1RP1 axonemal microtubule associated | Hyvin usein (80–99%) | 1 sairaudessa |
| RP1L1RP1 like 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| RP2RP2 activator of ARL3 GTPase | Hyvin usein (80–99%) | 1 sairaudessa |
| RP9RP9 pre-mRNA splicing factor | Hyvin usein (80–99%) | 1 sairaudessa |
| RPE65retinoid isomerohydrolase RPE65 | Hyvin usein (80–99%) | 3 sairaudessa |
| RPGRretinitis pigmentosa GTPase regulator | Hyvin usein (80–99%) | 2 sairaudessa |
| RPGRIP1RPGR interacting protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| SAGS-antigen visual arrestin | Hyvin usein (80–99%) | 1 sairaudessa |
| SAXO6stabilizer of axonemal microtubules 6 | Hyvin usein (80–99%) | 1 sairaudessa |
| SCAPERS-phase cyclin A associated protein in the ER | Hyvin usein (80–99%) | 1 sairaudessa |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Hyvin usein (80–99%) | 1 sairaudessa |
| SEMA4Asemaphorin 4A | Hyvin usein (80–99%) | 2 sairaudessa |
| SLC45A2solute carrier family 45 member 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| SLC7A14solute carrier family 7 member 14 | Hyvin usein (80–99%) | 1 sairaudessa |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Hyvin usein (80–99%) | 1 sairaudessa |
| SPATA7spermatogenesis associated 7 | Hyvin usein (80–99%) | 3 sairaudessa |
| TLCD3BTLC domain containing 3B | Hyvin usein (80–99%) | 1 sairaudessa |
| TMEM216transmembrane protein 216 | Hyvin usein (80–99%) | 1 sairaudessa |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Hyvin usein (80–99%) | 1 sairaudessa |
| TTC8tetratricopeptide repeat domain 8 | Hyvin usein (80–99%) | 1 sairaudessa |
| TTLL5tubulin tyrosine ligase like 5 | Hyvin usein (80–99%) | 1 sairaudessa |
| TUBTUB bipartite transcription factor | Hyvin usein (80–99%) | 1 sairaudessa |
| TUBB4Btubulin beta 4B class IVb | Hyvin usein (80–99%) | 1 sairaudessa |
| TUBGCP4tubulin gamma complex component 4 | Hyvin usein (80–99%) | 1 sairaudessa |
| TUBGCP6tubulin gamma complex component 6 | Hyvin usein (80–99%) | 2 sairaudessa |
| TULP1TUB like protein 1 | Hyvin usein (80–99%) | 2 sairaudessa |
| TYRtyrosinase | Hyvin usein (80–99%) | 1 sairaudessa |
| UBAP1Lubiquitin associated protein 1 like | Hyvin usein (80–99%) | 1 sairaudessa |
| UNC119unc-119 lipid binding chaperone | Hyvin usein (80–99%) | 1 sairaudessa |
| USH2Ausherin | Hyvin usein (80–99%) | 1 sairaudessa |
| USP45ubiquitin specific peptidase 45 | Hyvin usein (80–99%) | 1 sairaudessa |
| WDR19WD repeat domain 19 | Hyvin usein (80–99%) | 2 sairaudessa |
| ZNF408zinc finger protein 408 | Hyvin usein (80–99%) | 1 sairaudessa |
| ZNF513zinc finger protein 513 | Hyvin usein (80–99%) | 1 sairaudessa |
| APCAPC regulator of Wnt signaling pathway | Usein (30–79%) | 1 sairaudessa |
| CFHcomplement factor H | Usein (30–79%) | 1 sairaudessa |
| CFIcomplement factor I | Usein (30–79%) | 1 sairaudessa |
| COX7Bcytochrome c oxidase subunit 7B | Usein (30–79%) | 1 sairaudessa |
| CPceruloplasmin | Usein (30–79%) | 1 sairaudessa |
| CTNNB1catenin beta 1 | Usein (30–79%) | 1 sairaudessa |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Usein (30–79%) | 1 sairaudessa |
| ELMO2engulfment and cell motility 2 | Usein (30–79%) | 1 sairaudessa |
| HCCSholocytochrome c synthase | Usein (30–79%) | 1 sairaudessa |
| KIF11kinesin family member 11 | Usein (30–79%) | 1 sairaudessa |
| LYSTlysosomal trafficking regulator | Usein (30–79%) | 1 sairaudessa |
| MC1Rmelanocortin 1 receptor | Usein (30–79%) | 1 sairaudessa |
| MTTPmicrosomal triglyceride transfer protein | Usein (30–79%) | 1 sairaudessa |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Usein (30–79%) | 1 sairaudessa |
| OCA2OCA2 melanosomal transmembrane protein | Usein (30–79%) | 1 sairaudessa |
| PEPDpeptidase D | Usein (30–79%) | 1 sairaudessa |
| PEX1peroxisomal biogenesis factor 1 | Usein (30–79%) | 1 sairaudessa |
| PEX10peroxisomal biogenesis factor 10 | Usein (30–79%) | 1 sairaudessa |
| PEX11Bperoxisomal biogenesis factor 11 beta | Usein (30–79%) | 1 sairaudessa |
| PEX12peroxisomal biogenesis factor 12 | Usein (30–79%) | 1 sairaudessa |
| PEX13peroxisomal biogenesis factor 13 | Usein (30–79%) | 1 sairaudessa |
| PEX14peroxisomal biogenesis factor 14 | Usein (30–79%) | 1 sairaudessa |
| PEX16peroxisomal biogenesis factor 16 | Usein (30–79%) | 1 sairaudessa |
| PEX19peroxisomal biogenesis factor 19 | Usein (30–79%) | 1 sairaudessa |
| PEX2peroxisomal biogenesis factor 2 | Usein (30–79%) | 1 sairaudessa |
| PEX26peroxisomal biogenesis factor 26 | Usein (30–79%) | 1 sairaudessa |
| PEX3peroxisomal biogenesis factor 3 | Usein (30–79%) | 1 sairaudessa |
| PEX5peroxisomal biogenesis factor 5 | Usein (30–79%) | 1 sairaudessa |
| PEX6peroxisomal biogenesis factor 6 | Usein (30–79%) | 1 sairaudessa |
| RAB18RAB18, member RAS oncogene family | Usein (30–79%) | 1 sairaudessa |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Usein (30–79%) | 1 sairaudessa |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Usein (30–79%) | 1 sairaudessa |
| RNU4ATACRNA, U4atac small nuclear | Usein (30–79%) | 1 sairaudessa |
| SUMF1sulfatase modifying factor 1 | Usein (30–79%) | 1 sairaudessa |
| TBC1D20TBC1 domain family member 20 | Usein (30–79%) | 1 sairaudessa |
| TNFRSF11ATNF receptor superfamily member 11a | Usein (30–79%) | 1 sairaudessa |
| TNFRSF11BTNF receptor superfamily member 11b | Usein (30–79%) | 1 sairaudessa |
| WRNWRN RecQ like helicase | Usein (30–79%) | 1 sairaudessa |
| AKT1AKT serine/threonine kinase 1 | Joskus (5–29%) | 1 sairaudessa |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Joskus (5–29%) | 1 sairaudessa |
| CBScystathionine beta-synthase | Joskus (5–29%) | 1 sairaudessa |
| CEP120centrosomal protein 120 | Joskus (5–29%) | 1 sairaudessa |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Joskus (5–29%) | 1 sairaudessa |
| DYNC2I1dynein 2 intermediate chain 1 | Joskus (5–29%) | 1 sairaudessa |
| DYNC2I2dynein 2 intermediate chain 2 | Joskus (5–29%) | 1 sairaudessa |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Joskus (5–29%) | 1 sairaudessa |
| EDN3endothelin 3 | Joskus (5–29%) | 1 sairaudessa |
| EDNRBendothelin receptor type B | Joskus (5–29%) | 1 sairaudessa |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Joskus (5–29%) | 1 sairaudessa |
| ERCC5ERCC excision repair 5, endonuclease | Joskus (5–29%) | 1 sairaudessa |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Joskus (5–29%) | 1 sairaudessa |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Joskus (5–29%) | 1 sairaudessa |
| IFT80intraflagellar transport 80 | Joskus (5–29%) | 1 sairaudessa |
| KIAA0753KIAA0753 | Joskus (5–29%) | 1 sairaudessa |
| MCOLN1mucolipin TRP cation channel 1 | Joskus (5–29%) | 1 sairaudessa |
| MFRPmembrane frizzled-related protein | Joskus (5–29%) | 1 sairaudessa |
| MITFmelanocyte inducing transcription factor | Joskus (5–29%) | 1 sairaudessa |
| MORC2MORC family CW-type zinc finger 2 | Joskus (5–29%) | 1 sairaudessa |
| PRSS56serine protease 56 | Joskus (5–29%) | 1 sairaudessa |
| RAXretina and anterior neural fold homeobox | Joskus (5–29%) | 1 sairaudessa |
| RPS6KA3ribosomal protein S6 kinase A3 | Joskus (5–29%) | 1 sairaudessa |
| SIX6SIX homeobox 6 | Joskus (5–29%) | 1 sairaudessa |
| SLC12A6solute carrier family 12 member 6 | Joskus (5–29%) | 1 sairaudessa |
| SOX10SRY-box transcription factor 10 | Joskus (5–29%) | 1 sairaudessa |
| SOX2SRY-box transcription factor 2 | Joskus (5–29%) | 1 sairaudessa |
| TAF2TATA-box binding protein associated factor 2 | Joskus (5–29%) | 1 sairaudessa |
| TMEM98transmembrane protein 98 | Joskus (5–29%) | 1 sairaudessa |
| TTC21Btetratricopeptide repeat domain 21B | Joskus (5–29%) | 1 sairaudessa |
| TTPAalpha tocopherol transfer protein | Joskus (5–29%) | 1 sairaudessa |
| VPS13Bvacuolar protein sorting 13 homolog B | Joskus (5–29%) | 1 sairaudessa |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Joskus (5–29%) | 1 sairaudessa |
| FLNBfilamin B | Harvinainen (1–4 %) | 1 sairaudessa |
| IDSiduronate 2-sulfatase | Ei kirjattu | 1 sairaudessa |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Tarkemmat piirteet
Laajemmat piirteet
Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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