Požymis
Abnormal retinal pigmentation
Any deviation from the normal pigmentation of the retina.
Santrauka
- Taip pat vadinama
- Abnormality of retinal pigment epithelium, Abnormality of retinal pigmentation, Abnormality of RPE, Retinal pigmentary anomaly
- Kūno sistema
- Abnormality of the eye
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Abnormal retinal pigmentation, and the rest of your genome, with one test.
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Įsigyti savo Genome Test236 genų susiję su Abnormal retinal pigmentation
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Abnormal retinal pigmentation. 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 |
|---|---|---|
| ABCA4ATP binding cassette subfamily A member 4 | Labai dažnai (80–99%) | 2 ligose |
| ADAM9ADAM metallopeptidase domain 9 | Labai dažnai (80–99%) | 1 ligoje |
| AGBL5AGBL carboxypeptidase 5 | Labai dažnai (80–99%) | 1 ligoje |
| AHI1Abelson helper integration site 1 | Labai dažnai (80–99%) | 1 ligoje |
| AHRaryl hydrocarbon receptor | Labai dažnai (80–99%) | 1 ligoje |
| AIPL1AIP like 1 HSP90 co-chaperone | Labai dažnai (80–99%) | 2 ligose |
| ALMS1ALMS1 centrosome and basal body associated protein | Labai dažnai (80–99%) | 2 ligose |
| ARHGEF18Rho/Rac guanine nucleotide exchange factor 18 | Labai dažnai (80–99%) | 1 ligoje |
| ARL2BPARF like GTPase 2 binding protein | Labai dažnai (80–99%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Labai dažnai (80–99%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Labai dažnai (80–99%) | 1 ligoje |
| ATF6activating transcription factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Labai dažnai (80–99%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Labai dažnai (80–99%) | 1 ligoje |
| BEST1bestrophin 1 | Labai dažnai (80–99%) | 2 ligose |
| CA4carbonic anhydrase 4 | Labai dažnai (80–99%) | 1 ligoje |
| CABP4calcium binding protein 4 | Labai dažnai (80–99%) | 2 ligose |
| CACNA1Fcalcium voltage-gated channel subunit alpha1 F | Labai dažnai (80–99%) | 1 ligoje |
| CACNA2D4calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Labai dažnai (80–99%) | 1 ligoje |
| CC2D2Acoiled-coil and C2 domain containing 2A | Labai dažnai (80–99%) | 1 ligoje |
| CDH3cadherin 3 | Labai dažnai (80–99%) | 1 ligoje |
| CDHR1cadherin related family member 1 | Labai dažnai (80–99%) | 2 ligose |
| CEP164centrosomal protein 164 | Labai dažnai (80–99%) | 1 ligoje |
| CEP290centrosomal protein 290 | Labai dažnai (80–99%) | 2 ligose |
| CERKLCERK like autophagy regulator | Labai dažnai (80–99%) | 1 ligoje |
| CFAP20cilia and flagella associated protein 20 | Labai dažnai (80–99%) | 1 ligoje |
| CFAP410cilia and flagella associated protein 410 | Labai dažnai (80–99%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Labai dažnai (80–99%) | 2 ligose |
| CHMCHM Rab escort protein | Labai dažnai (80–99%) | 1 ligoje |
| CLDN19claudin 19 | Labai dažnai (80–99%) | 1 ligoje |
| CLRN1clarin 1 | Labai dažnai (80–99%) | 1 ligoje |
| CNGA1cyclic nucleotide gated channel subunit alpha 1 | Labai dažnai (80–99%) | 1 ligoje |
| CNGA3cyclic nucleotide gated channel subunit alpha 3 | Labai dažnai (80–99%) | 1 ligoje |
| CNGB1cyclic nucleotide gated channel subunit beta 1 | Labai dažnai (80–99%) | 1 ligoje |
| CNGB3cyclic nucleotide gated channel subunit beta 3 | Labai dažnai (80–99%) | 1 ligoje |
| CNNM4cyclin and CBS domain divalent metal cation transport mediator 4 | Labai dažnai (80–99%) | 1 ligoje |
| COQ8Bcoenzyme Q8B | Labai dažnai (80–99%) | 1 ligoje |
| CRB1crumbs cell polarity complex component 1 | Labai dažnai (80–99%) | 3 ligose |
| CRXcone-rod homeobox | Labai dažnai (80–99%) | 3 ligose |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 196 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| DHX38DEAH-box helicase 38 | Labai dažnai (80–99%) | 1 ligoje |
| DRAM2DNA damage regulated autophagy modulator 2 | Labai dažnai (80–99%) | 1 ligoje |
| EPG5ectopic P-granules 5 autophagy tethering factor | Labai dažnai (80–99%) | 1 ligoje |
| EYSEGF-like photoreceptor maintenance factor | Labai dažnai (80–99%) | 1 ligoje |
| FAM161AFAM161 centrosomal protein A | Labai dažnai (80–99%) | 1 ligoje |
| FSCN2fascin actin-bundling protein 2, retinal | Labai dažnai (80–99%) | 1 ligoje |
| FSD1Lfibronectin type III and SPRY domain containing 1 like | Labai dažnai (80–99%) | 2 ligose |
| GDF6growth differentiation factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| GNAT2G protein subunit alpha transducin 2 | Labai dažnai (80–99%) | 1 ligoje |
| GUCA1Aguanylate cyclase activator 1A | Labai dažnai (80–99%) | 2 ligose |
| GUCA1Bguanylate cyclase activator 1B | Labai dažnai (80–99%) | 1 ligoje |
| GUCY2Dguanylate cyclase 2D, retinal | Labai dažnai (80–99%) | 2 ligose |
| HGSNATheparan-alpha-glucosaminide N-acetyltransferase | Labai dažnai (80–99%) | 1 ligoje |
| HKDC1hexokinase domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| IDH3Aisocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha | Labai dažnai (80–99%) | 1 ligoje |
| IDH3Bisocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | Labai dažnai (80–99%) | 1 ligoje |
| IFT140intraflagellar transport 140 | Labai dažnai (80–99%) | 3 ligose |
| IFT172intraflagellar transport 172 | Labai dažnai (80–99%) | 2 ligose |
| IFT43intraflagellar transport 43 | Labai dažnai (80–99%) | 1 ligoje |
| IFT54intraflagellar transport 54 | Labai dažnai (80–99%) | 1 ligoje |
| IFT88intraflagellar transport 88 | Labai dažnai (80–99%) | 1 ligoje |
| IMPDH1inosine monophosphate dehydrogenase 1 | Labai dažnai (80–99%) | 2 ligose |
| IMPG1interphotoreceptor matrix proteoglycan 1 | Labai dažnai (80–99%) | 1 ligoje |
| IMPG2interphotoreceptor matrix proteoglycan 2 | Labai dažnai (80–99%) | 1 ligoje |
| INVSinversin | Labai dažnai (80–99%) | 1 ligoje |
| IQCB1IQ motif containing B1 | Labai dažnai (80–99%) | 2 ligose |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Labai dažnai (80–99%) | 2 ligose |
| KIAA1549KIAA1549 | Labai dažnai (80–99%) | 1 ligoje |
| KIZkizuna centrosomal protein | Labai dažnai (80–99%) | 1 ligoje |
| KLHL7kelch like family member 7 | Labai dažnai (80–99%) | 1 ligoje |
| LCA5lebercilin LCA5 | Labai dažnai (80–99%) | 2 ligose |
| LMNAlamin A/C | Labai dažnai (80–99%) | 1 ligoje |
| LRATlecithin retinol acyltransferase | Labai dažnai (80–99%) | 3 ligose |
| MAKmale germ cell associated kinase | Labai dažnai (80–99%) | 1 ligoje |
| MERTKMER proto-oncogene, tyrosine kinase | Labai dažnai (80–99%) | 1 ligoje |
| MFSD8major facilitator superfamily domain containing 8 | Labai dažnai (80–99%) | 1 ligoje |
| NEK2NIMA related kinase 2 | Labai dažnai (80–99%) | 1 ligoje |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Labai dažnai (80–99%) | 2 ligose |
| NPHP1nephrocystin 1 | Labai dažnai (80–99%) | 1 ligoje |
| NPHP3nephrocystin 3 | Labai dažnai (80–99%) | 1 ligoje |
| NPHP4nephrocystin 4 | Labai dažnai (80–99%) | 1 ligoje |
| NR2E3nuclear receptor subfamily 2 group E member 3 | Labai dažnai (80–99%) | 1 ligoje |
| NRLneural retina leucine zipper | Labai dažnai (80–99%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Labai dažnai (80–99%) | 1 ligoje |
| OPN1LWopsin 1, long wave sensitive | Labai dažnai (80–99%) | 2 ligose |
| OPN1MWopsin 1, medium wave sensitive | Labai dažnai (80–99%) | 2 ligose |
| OTX2orthodenticle homeobox 2 | Labai dažnai (80–99%) | 3 ligose |
| PAX6paired box 6 | Labai dažnai (80–99%) | 1 ligoje |
| PCAREphotoreceptor cilium actin regulator | Labai dažnai (80–99%) | 1 ligoje |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Labai dažnai (80–99%) | 2 ligose |
| PDE6Aphosphodiesterase 6A | Labai dažnai (80–99%) | 1 ligoje |
| PDE6Bphosphodiesterase 6B | Labai dažnai (80–99%) | 1 ligoje |
| PDE6Cphosphodiesterase 6C | Labai dažnai (80–99%) | 1 ligoje |
| PDE6Gphosphodiesterase 6G | Labai dažnai (80–99%) | 1 ligoje |
| PEX7peroxisomal biogenesis factor 7 | Labai dažnai (80–99%) | 1 ligoje |
| PHYHphytanoyl-CoA 2-hydroxylase | Labai dažnai (80–99%) | 1 ligoje |
| PITPNM3PITPNM family member 3 | Labai dažnai (80–99%) | 1 ligoje |
| PLK4polo like kinase 4 | Labai dažnai (80–99%) | 1 ligoje |
| PNPLA6patatin like domain 6, lysophospholipase | Labai dažnai (80–99%) | 1 ligoje |
| POC1BPOC1 centriolar protein B | Labai dažnai (80–99%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Labai dažnai (80–99%) | 1 ligoje |
| PRCDphotoreceptor disc component | Labai dažnai (80–99%) | 1 ligoje |
| PROM1prominin 1 | Labai dažnai (80–99%) | 2 ligose |
| PRPF3pre-mRNA processing factor 3 | Labai dažnai (80–99%) | 1 ligoje |
| PRPF31pre-mRNA processing factor 31 | Labai dažnai (80–99%) | 1 ligoje |
| PRPF4pre-mRNA splicing tri-snRNP complex factor PRPF4 | Labai dažnai (80–99%) | 1 ligoje |
| PRPF6pre-mRNA processing factor 6 | Labai dažnai (80–99%) | 1 ligoje |
| PRPF8pre-mRNA processing factor 8 | Labai dažnai (80–99%) | 1 ligoje |
| PRPH2peripherin 2 | Labai dažnai (80–99%) | 4 ligose |
| RAB28RAB28, member RAS oncogene family | Labai dažnai (80–99%) | 1 ligoje |
| RAX2retina and anterior neural fold homeobox 2 | Labai dažnai (80–99%) | 1 ligoje |
| RBP3retinol binding protein 3 | Labai dažnai (80–99%) | 1 ligoje |
| RD3RD3 regulator of GUCY2D | Labai dažnai (80–99%) | 1 ligoje |
| RDH12retinol dehydrogenase 12 | Labai dažnai (80–99%) | 2 ligose |
| REEP6receptor accessory protein 6 | Labai dažnai (80–99%) | 1 ligoje |
| RGRretinal G protein coupled receptor | Labai dažnai (80–99%) | 1 ligoje |
| RHOrhodopsin | Labai dažnai (80–99%) | 1 ligoje |
| RIMS1regulating synaptic membrane exocytosis 1 | Labai dažnai (80–99%) | 1 ligoje |
| RLBP1retinaldehyde binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Labai dažnai (80–99%) | 1 ligoje |
| RNF216ring finger protein 216 | Labai dažnai (80–99%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Labai dažnai (80–99%) | 1 ligoje |
| RNU6-1RNA, U6 small nuclear 1 | Labai dažnai (80–99%) | 1 ligoje |
| RNU6-2RNA, U6 small nuclear 2 | Labai dažnai (80–99%) | 1 ligoje |
| RNU6-8RNA, U6 small nuclear 8 | Labai dažnai (80–99%) | 1 ligoje |
| RNU6-9RNA, U6 small nuclear 9 | Labai dažnai (80–99%) | 1 ligoje |
| ROM1retinal outer segment membrane protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| RP1RP1 axonemal microtubule associated | Labai dažnai (80–99%) | 1 ligoje |
| RP1L1RP1 like 1 | Labai dažnai (80–99%) | 1 ligoje |
| RP2RP2 activator of ARL3 GTPase | Labai dažnai (80–99%) | 1 ligoje |
| RP9RP9 pre-mRNA splicing factor | Labai dažnai (80–99%) | 1 ligoje |
| RPE65retinoid isomerohydrolase RPE65 | Labai dažnai (80–99%) | 3 ligose |
| RPGRretinitis pigmentosa GTPase regulator | Labai dažnai (80–99%) | 2 ligose |
| RPGRIP1RPGR interacting protein 1 | Labai dažnai (80–99%) | 2 ligose |
| SAGS-antigen visual arrestin | Labai dažnai (80–99%) | 1 ligoje |
| SAXO6stabilizer of axonemal microtubules 6 | Labai dažnai (80–99%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Labai dažnai (80–99%) | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Labai dažnai (80–99%) | 1 ligoje |
| SEMA4Asemaphorin 4A | Labai dažnai (80–99%) | 2 ligose |
| SLC45A2solute carrier family 45 member 2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC7A14solute carrier family 7 member 14 | Labai dažnai (80–99%) | 1 ligoje |
| SNRNP200small nuclear ribonucleoprotein U5 subunit 200 | Labai dažnai (80–99%) | 1 ligoje |
| SPATA7spermatogenesis associated 7 | Labai dažnai (80–99%) | 3 ligose |
| TLCD3BTLC domain containing 3B | Labai dažnai (80–99%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Labai dažnai (80–99%) | 1 ligoje |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Labai dažnai (80–99%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Labai dažnai (80–99%) | 1 ligoje |
| TTLL5tubulin tyrosine ligase like 5 | Labai dažnai (80–99%) | 1 ligoje |
| TUBTUB bipartite transcription factor | Labai dažnai (80–99%) | 1 ligoje |
| TUBB4Btubulin beta 4B class IVb | Labai dažnai (80–99%) | 1 ligoje |
| TUBGCP4tubulin gamma complex component 4 | Labai dažnai (80–99%) | 1 ligoje |
| TUBGCP6tubulin gamma complex component 6 | Labai dažnai (80–99%) | 2 ligose |
| TULP1TUB like protein 1 | Labai dažnai (80–99%) | 2 ligose |
| TYRtyrosinase | Labai dažnai (80–99%) | 1 ligoje |
| UBAP1Lubiquitin associated protein 1 like | Labai dažnai (80–99%) | 1 ligoje |
| UNC119unc-119 lipid binding chaperone | Labai dažnai (80–99%) | 1 ligoje |
| USH2Ausherin | Labai dažnai (80–99%) | 1 ligoje |
| USP45ubiquitin specific peptidase 45 | Labai dažnai (80–99%) | 1 ligoje |
| WDR19WD repeat domain 19 | Labai dažnai (80–99%) | 2 ligose |
| ZNF408zinc finger protein 408 | Labai dažnai (80–99%) | 1 ligoje |
| ZNF513zinc finger protein 513 | Labai dažnai (80–99%) | 1 ligoje |
| APCAPC regulator of Wnt signaling pathway | Dažnai (30–79%) | 1 ligoje |
| CFHcomplement factor H | Dažnai (30–79%) | 1 ligoje |
| CFIcomplement factor I | Dažnai (30–79%) | 1 ligoje |
| COX7Bcytochrome c oxidase subunit 7B | Dažnai (30–79%) | 1 ligoje |
| CPceruloplasmin | Dažnai (30–79%) | 1 ligoje |
| CTNNB1catenin beta 1 | Dažnai (30–79%) | 1 ligoje |
| EFEMP1EGF-like fibulin extracellular matrix protein 1 | Dažnai (30–79%) | 1 ligoje |
| ELMO2engulfment and cell motility 2 | Dažnai (30–79%) | 1 ligoje |
| HCCSholocytochrome c synthase | Dažnai (30–79%) | 1 ligoje |
| KIF11kinesin family member 11 | Dažnai (30–79%) | 1 ligoje |
| LYSTlysosomal trafficking regulator | Dažnai (30–79%) | 1 ligoje |
| MC1Rmelanocortin 1 receptor | Dažnai (30–79%) | 1 ligoje |
| MTTPmicrosomal triglyceride transfer protein | Dažnai (30–79%) | 1 ligoje |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Dažnai (30–79%) | 1 ligoje |
| OCA2OCA2 melanosomal transmembrane protein | Dažnai (30–79%) | 1 ligoje |
| PEPDpeptidase D | Dažnai (30–79%) | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Dažnai (30–79%) | 1 ligoje |
| PEX10peroxisomal biogenesis factor 10 | Dažnai (30–79%) | 1 ligoje |
| PEX11Bperoxisomal biogenesis factor 11 beta | Dažnai (30–79%) | 1 ligoje |
| PEX12peroxisomal biogenesis factor 12 | Dažnai (30–79%) | 1 ligoje |
| PEX13peroxisomal biogenesis factor 13 | Dažnai (30–79%) | 1 ligoje |
| PEX14peroxisomal biogenesis factor 14 | Dažnai (30–79%) | 1 ligoje |
| PEX16peroxisomal biogenesis factor 16 | Dažnai (30–79%) | 1 ligoje |
| PEX19peroxisomal biogenesis factor 19 | Dažnai (30–79%) | 1 ligoje |
| PEX2peroxisomal biogenesis factor 2 | Dažnai (30–79%) | 1 ligoje |
| PEX26peroxisomal biogenesis factor 26 | Dažnai (30–79%) | 1 ligoje |
| PEX3peroxisomal biogenesis factor 3 | Dažnai (30–79%) | 1 ligoje |
| PEX5peroxisomal biogenesis factor 5 | Dažnai (30–79%) | 1 ligoje |
| PEX6peroxisomal biogenesis factor 6 | Dažnai (30–79%) | 1 ligoje |
| RAB18RAB18, member RAS oncogene family | Dažnai (30–79%) | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Dažnai (30–79%) | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Dažnai (30–79%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Dažnai (30–79%) | 1 ligoje |
| SUMF1sulfatase modifying factor 1 | Dažnai (30–79%) | 1 ligoje |
| TBC1D20TBC1 domain family member 20 | Dažnai (30–79%) | 1 ligoje |
| TNFRSF11ATNF receptor superfamily member 11a | Dažnai (30–79%) | 1 ligoje |
| TNFRSF11BTNF receptor superfamily member 11b | Dažnai (30–79%) | 1 ligoje |
| WRNWRN RecQ like helicase | Dažnai (30–79%) | 1 ligoje |
| AKT1AKT serine/threonine kinase 1 | Kartais (5–29%) | 1 ligoje |
| ALDH1A3aldehyde dehydrogenase 1 family member A3 | Kartais (5–29%) | 1 ligoje |
| CBScystathionine beta-synthase | Kartais (5–29%) | 1 ligoje |
| CEP120centrosomal protein 120 | Kartais (5–29%) | 1 ligoje |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Kartais (5–29%) | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Kartais (5–29%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Kartais (5–29%) | 1 ligoje |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Kartais (5–29%) | 1 ligoje |
| EDN3endothelin 3 | Kartais (5–29%) | 1 ligoje |
| EDNRBendothelin receptor type B | Kartais (5–29%) | 1 ligoje |
| ERCC1ERCC excision repair 1, endonuclease non-catalytic subunit | Kartais (5–29%) | 1 ligoje |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Kartais (5–29%) | 1 ligoje |
| ERCC5ERCC excision repair 5, endonuclease | Kartais (5–29%) | 1 ligoje |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Kartais (5–29%) | 1 ligoje |
| HADHAhydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | Kartais (5–29%) | 1 ligoje |
| IFT80intraflagellar transport 80 | Kartais (5–29%) | 1 ligoje |
| KIAA0753KIAA0753 | Kartais (5–29%) | 1 ligoje |
| MCOLN1mucolipin TRP cation channel 1 | Kartais (5–29%) | 1 ligoje |
| MFRPmembrane frizzled-related protein | Kartais (5–29%) | 1 ligoje |
| MITFmelanocyte inducing transcription factor | Kartais (5–29%) | 1 ligoje |
| MORC2MORC family CW-type zinc finger 2 | Kartais (5–29%) | 1 ligoje |
| PRSS56serine protease 56 | Kartais (5–29%) | 1 ligoje |
| RAXretina and anterior neural fold homeobox | Kartais (5–29%) | 1 ligoje |
| RPS6KA3ribosomal protein S6 kinase A3 | Kartais (5–29%) | 1 ligoje |
| SIX6SIX homeobox 6 | Kartais (5–29%) | 1 ligoje |
| SLC12A6solute carrier family 12 member 6 | Kartais (5–29%) | 1 ligoje |
| SOX10SRY-box transcription factor 10 | Kartais (5–29%) | 1 ligoje |
| SOX2SRY-box transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| TAF2TATA-box binding protein associated factor 2 | Kartais (5–29%) | 1 ligoje |
| TMEM98transmembrane protein 98 | Kartais (5–29%) | 1 ligoje |
| TTC21Btetratricopeptide repeat domain 21B | Kartais (5–29%) | 1 ligoje |
| TTPAalpha tocopherol transfer protein | Kartais (5–29%) | 1 ligoje |
| VPS13Bvacuolar protein sorting 13 homolog B | Kartais (5–29%) | 1 ligoje |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Kartais (5–29%) | 1 ligoje |
| FLNBfilamin B | Retai (1–4 %) | 1 ligoje |
| IDSiduronate 2-sulfatase | Neužfiksuota | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | 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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