Požymis
Hydronephrosis
Severe distention of the kidney with dilation of the renal pelvis and calices.
Santrauka
- Kūno sistema
- Abnormality of the genitourinary system
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Hydronephrosis, and the rest of your genome, with one test.
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Įsigyti savo Genome Test282 genų susiję su Hydronephrosis
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Hydronephrosis. 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 |
|---|---|---|
| AMOTL1angiomotin like 1 | Visada | 1 ligoje |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Visada | 1 ligoje |
| B3GALT6beta-1,3-galactosyltransferase 6 | Visada | 1 ligoje |
| CACHD1cache domain containing 1 | Visada | 1 ligoje |
| CD81CD81 molecule | Visada | 1 ligoje |
| CIROZciliated left-right organizer protein containing ZP-N domains | Visada | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Visada | 3 ligose |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Visada | 2 ligose |
| EN1engrailed homeobox 1 | Visada | 1 ligoje |
| EP300EP300 lysine acetyltransferase | Visada | 2 ligose |
| FBXL4F-box and leucine rich repeat protein 4 | Visada | 1 ligoje |
| FLNAfilamin A | Visada | 7 ligose |
| GPC3glypican 3 | Visada | 2 ligose |
| HOXA13homeobox A13 | Visada | 1 ligoje |
| IARS1isoleucyl-tRNA synthetase 1 | Visada | 2 ligose |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| KIAA0753KIAA0753 | Visada | 1 ligoje |
| LMOD1leiomodin 1 | Visada | 1 ligoje |
| MAU2MAU2 sister chromatid cohesion factor | Visada | 1 ligoje |
| MED12mediator complex subunit 12 | Visada | 2 ligose |
| MED16mediator complex subunit 16 | Visada | 1 ligoje |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Visada | 2 ligose |
| NCAPG2non-SMC condensin II complex subunit G2 | Visada | 1 ligoje |
| NFIAnuclear factor I A | Visada | 1 ligoje |
| NIPBLNIPBL cohesin loading factor | Visada | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Visada | 1 ligoje |
| POLR1ARNA polymerase I subunit A | Visada | 1 ligoje |
| PTBP1polypyrimidine tract binding protein 1 | Visada | 1 ligoje |
| SGSM3small G protein signaling modulator 3 | Visada | 1 ligoje |
| TOP2BDNA topoisomerase II beta | Visada | 1 ligoje |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Visada | 1 ligoje |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Labai dažnai (80–99%) | 1 ligoje |
| KAT6Blysine acetyltransferase 6B | Labai dažnai (80–99%) | 2 ligose |
| POLEDNA polymerase epsilon, catalytic subunit | Labai dažnai (80–99%) | 1 ligoje |
| RNU4ATACRNA, U4atac small nuclear | Labai dažnai (80–99%) | 1 ligoje |
| WFS1wolframin ER transmembrane glycoprotein | Labai dažnai (80–99%) | 1 ligoje |
| ACTBactin beta | Dažnai (30–79%) | 1 ligoje |
| ACTG1actin gamma 1 | Dažnai (30–79%) | 1 ligoje |
| ACTG2actin gamma 2, smooth muscle | Dažnai (30–79%) | 2 ligose |
| BBS12Bardet-Biedl syndrome 12 | Dažnai (30–79%) | 2 ligose |
Rodyti dar 242 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| BCL11ABCL11 transcription factor A | Dažnai (30–79%) | 1 ligoje |
| BCORBCL6 corepressor | Dažnai (30–79%) | 1 ligoje |
| BNC2basonuclin zinc finger protein 2 | Dažnai (30–79%) | 1 ligoje |
| CCNQcyclin Q | Dažnai (30–79%) | 1 ligoje |
| CHRNA3cholinergic receptor nicotinic alpha 3 subunit | Dažnai (30–79%) | 1 ligoje |
| COG1component of oligomeric golgi complex 1 | Dažnai (30–79%) | 1 ligoje |
| COG7component of oligomeric golgi complex 7 | Dažnai (30–79%) | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Dažnai (30–79%) | 1 ligoje |
| DLG5discs large MAGUK scaffold protein 5 | Dažnai (30–79%) | 1 ligoje |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Dažnai (30–79%) | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Dažnai (30–79%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Dažnai (30–79%) | 1 ligoje |
| EMILIN1elastin microfibril interfacer 1 | Dažnai (30–79%) | 1 ligoje |
| ERI1exoribonuclease 1 | Dažnai (30–79%) | 2 ligose |
| GATA3GATA binding protein 3 | Dažnai (30–79%) | 1 ligoje |
| GEMIN4gem nuclear organelle associated protein 4 | Dažnai (30–79%) | 1 ligoje |
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Dažnai (30–79%) | 3 ligose |
| HPSE2heparanase 2 (inactive) | Dažnai (30–79%) | 2 ligose |
| IFT80intraflagellar transport 80 | Dažnai (30–79%) | 1 ligoje |
| ITGA6integrin subunit alpha 6 | Dažnai (30–79%) | 1 ligoje |
| ITGB4integrin subunit beta 4 | Dažnai (30–79%) | 2 ligose |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Dažnai (30–79%) | 2 ligose |
| LRRC7leucine rich repeat containing 7 | Dažnai (30–79%) | 1 ligoje |
| LTBP4latent transforming growth factor beta binding protein 4 | Dažnai (30–79%) | 1 ligoje |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Dažnai (30–79%) | 1 ligoje |
| MKKSMKKS centrosomal shuttling protein | Dažnai (30–79%) | 3 ligose |
| MYOD1myogenic differentiation 1 | Dažnai (30–79%) | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Dažnai (30–79%) | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Dažnai (30–79%) | 2 ligose |
| 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 |
| POLR3ARNA polymerase III subunit A | Dažnai (30–79%) | 1 ligoje |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| PSKH1protein serine kinase H1 | Dažnai (30–79%) | 1 ligoje |
| RAD51CRAD51 paralog C | Dažnai (30–79%) | 1 ligoje |
| RELREL proto-oncogene, NF-kB subunit | Dažnai (30–79%) | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Dažnai (30–79%) | 2 ligose |
| SETBP1SET binding protein 1 | Dažnai (30–79%) | 2 ligose |
| SOX17SRY-box transcription factor 17 | Dažnai (30–79%) | 1 ligoje |
| TP63tumor protein p63 | Dažnai (30–79%) | 2 ligose |
| WDR35WD repeat domain 35 | Dažnai (30–79%) | 1 ligoje |
| XPO1exportin 1 | Dažnai (30–79%) | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Kartais (5–29%) | 1 ligoje |
| APCAPC regulator of Wnt signaling pathway | Kartais (5–29%) | 1 ligoje |
| ARL3ARF like GTPase 3 | Kartais (5–29%) | 1 ligoje |
| ARL6ARF like GTPase 6 | Kartais (5–29%) | 1 ligoje |
| ATRXATRX chromatin remodeler | Kartais (5–29%) | 2 ligose |
| B3GLCTbeta 3-glucosyltransferase | Kartais (5–29%) | 2 ligose |
| BAP1BRCA1 associated deubiquitinase 1 | Kartais (5–29%) | 1 ligoje |
| BBIP1BBSome interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| BBS1Bardet-Biedl syndrome 1 | Kartais (5–29%) | 1 ligoje |
| BBS10Bardet-Biedl syndrome 10 | Kartais (5–29%) | 1 ligoje |
| BBS2Bardet-Biedl syndrome 2 | Kartais (5–29%) | 1 ligoje |
| BBS4Bardet-Biedl syndrome 4 | Kartais (5–29%) | 1 ligoje |
| BBS5Bardet-Biedl syndrome 5 | Kartais (5–29%) | 1 ligoje |
| BBS7Bardet-Biedl syndrome 7 | Kartais (5–29%) | 1 ligoje |
| BBS9Bardet-Biedl syndrome 9 | Kartais (5–29%) | 1 ligoje |
| BCKDKbranched chain keto acid dehydrogenase kinase | Kartais (5–29%) | 1 ligoje |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Kartais (5–29%) | 2 ligose |
| BRF1BRF1 general transcription factor IIIB subunit | Kartais (5–29%) | 1 ligoje |
| CA2carbonic anhydrase 2 | Kartais (5–29%) | 1 ligoje |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Kartais (5–29%) | 1 ligoje |
| CASZ1castor zinc finger 1 | Kartais (5–29%) | 1 ligoje |
| CCDC22CCC complex scaffolding subunit CCDC22 | Kartais (5–29%) | 1 ligoje |
| CDC42cell division cycle 42 | Kartais (5–29%) | 2 ligose |
| CEP19centrosomal protein 19 | Kartais (5–29%) | 1 ligoje |
| CEP290centrosomal protein 290 | Kartais (5–29%) | 1 ligoje |
| CFAP418cilia and flagella associated protein 418 | Kartais (5–29%) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Kartais (5–29%) | 2 ligose |
| CHST14carbohydrate sulfotransferase 14 | Kartais (5–29%) | 2 ligose |
| COL18A1collagen type XVIII alpha 1 chain | Kartais (5–29%) | 1 ligoje |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Kartais (5–29%) | 1 ligoje |
| CTNNB1catenin beta 1 | Kartais (5–29%) | 1 ligoje |
| DDB1damage specific DNA binding protein 1 | Kartais (5–29%) | 1 ligoje |
| DDX6DEAD-box helicase 6 | Kartais (5–29%) | 1 ligoje |
| DHCR77-dehydrocholesterol reductase | Kartais (5–29%) | 2 ligose |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 1 ligoje |
| DPYSL5dihydropyrimidinase like 5 | Kartais (5–29%) | 1 ligoje |
| DSEdermatan sulfate epimerase | Kartais (5–29%) | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Kartais (5–29%) | 2 ligose |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Kartais (5–29%) | 1 ligoje |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Kartais (5–29%) | 1 ligoje |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Kartais (5–29%) | 1 ligoje |
| FAM20CFAM20C golgi associated secretory pathway kinase | Kartais (5–29%) | 1 ligoje |
| FGFR2fibroblast growth factor receptor 2 | Kartais (5–29%) | 3 ligose |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Kartais (5–29%) | 1 ligoje |
| FOCADfocadhesin | Kartais (5–29%) | 1 ligoje |
| FOXF1forkhead box F1 | Kartais (5–29%) | 2 ligose |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Kartais (5–29%) | 1 ligoje |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 2 ligose |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Kartais (5–29%) | 1 ligoje |
| HDAC4histone deacetylase 4 | Kartais (5–29%) | 1 ligoje |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Kartais (5–29%) | 1 ligoje |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Kartais (5–29%) | 1 ligoje |
| HOXD13homeobox D13 | Kartais (5–29%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Kartais (5–29%) | 1 ligoje |
| IFT172intraflagellar transport 172 | Kartais (5–29%) | 1 ligoje |
| IFT27intraflagellar transport 27 | Kartais (5–29%) | 2 ligose |
| IFT56intraflagellar transport 56 | Kartais (5–29%) | 1 ligoje |
| IFT74intraflagellar transport 74 | Kartais (5–29%) | 1 ligoje |
| IPO8importin 8 | Kartais (5–29%) | 1 ligoje |
| KAT6Alysine acetyltransferase 6A | Kartais (5–29%) | 2 ligose |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Kartais (5–29%) | 1 ligoje |
| KDM6Alysine demethylase 6A | Kartais (5–29%) | 2 ligose |
| KMT2Dlysine methyltransferase 2D | Kartais (5–29%) | 2 ligose |
| KRASKRas proto-oncogene, GTPase | Kartais (5–29%) | 2 ligose |
| LAMA3laminin subunit alpha 3 | Kartais (5–29%) | 1 ligoje |
| LAMB3laminin subunit beta 3 | Kartais (5–29%) | 1 ligoje |
| LAMC2laminin subunit gamma 2 | Kartais (5–29%) | 1 ligoje |
| LMNB1lamin B1 | Kartais (5–29%) | 1 ligoje |
| LUZP1leucine zipper protein 1 | Kartais (5–29%) | 1 ligoje |
| LZTFL1leucine zipper transcription factor like 1 | Kartais (5–29%) | 1 ligoje |
| MAP2K1mitogen-activated protein kinase kinase 1 | Kartais (5–29%) | 2 ligose |
| MAP2K2mitogen-activated protein kinase kinase 2 | Kartais (5–29%) | 2 ligose |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Kartais (5–29%) | 1 ligoje |
| MED11mediator complex subunit 11 | Kartais (5–29%) | 1 ligoje |
| MED25mediator complex subunit 25 | Kartais (5–29%) | 2 ligose |
| MEG3maternally expressed 3 | Kartais (5–29%) | 1 ligoje |
| MIA3MIA SH3 domain ER export factor 3 | Kartais (5–29%) | 1 ligoje |
| MID1midline 1 | Kartais (5–29%) | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| MMP23Bmatrix metallopeptidase 23B | Kartais (5–29%) | 1 ligoje |
| MYMKmyomaker, myoblast fusion factor | Kartais (5–29%) | 1 ligoje |
| MYMXmyomixer, myoblast fusion factor | Kartais (5–29%) | 1 ligoje |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Kartais (5–29%) | 1 ligoje |
| NPHP1nephrocystin 1 | Kartais (5–29%) | 1 ligoje |
| NRIP1nuclear receptor interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| NSD1nuclear receptor binding SET domain protein 1 | Kartais (5–29%) | 2 ligose |
| NXNnucleoredoxin | Kartais (5–29%) | 1 ligoje |
| OFD1OFD1 centriole and centriolar satellite protein | Kartais (5–29%) | 1 ligoje |
| OTUD5OTU deubiquitinase 5 | Kartais (5–29%) | 1 ligoje |
| PAX7paired box 7 | Kartais (5–29%) | 1 ligoje |
| PDPNpodoplanin | Kartais (5–29%) | 1 ligoje |
| PGAP2post-GPI attachment to proteins 2 | Kartais (5–29%) | 1 ligoje |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Kartais (5–29%) | 1 ligoje |
| PGM1phosphoglucomutase 1 | Kartais (5–29%) | 1 ligoje |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Kartais (5–29%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Kartais (5–29%) | 3 ligose |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kartais (5–29%) | 3 ligose |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Kartais (5–29%) | 1 ligoje |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Kartais (5–29%) | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Kartais (5–29%) | 1 ligoje |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Kartais (5–29%) | 1 ligoje |
| PLECplectin | Kartais (5–29%) | 1 ligoje |
| PPFIA3PPFI scaffold protein A3 | Kartais (5–29%) | 1 ligoje |
| PRDM16PR/SET domain 16 | Kartais (5–29%) | 1 ligoje |
| PRKCZprotein kinase C zeta | Kartais (5–29%) | 1 ligoje |
| PRTN3proteinase 3 | Kartais (5–29%) | 1 ligoje |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Kartais (5–29%) | 1 ligoje |
| RAB18RAB18, member RAS oncogene family | Kartais (5–29%) | 1 ligoje |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Kartais (5–29%) | 1 ligoje |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Kartais (5–29%) | 1 ligoje |
| RBM10RNA binding motif protein 10 | Kartais (5–29%) | 2 ligose |
| RECQL4RecQ like helicase 4 | Kartais (5–29%) | 1 ligoje |
| REREarginine-glutamic acid dipeptide repeats | Kartais (5–29%) | 1 ligoje |
| RFX7regulatory factor X7 | Kartais (5–29%) | 1 ligoje |
| RORARAR related orphan receptor A | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 1 ligoje |
| SCAF4SR-related CTD associated factor 4 | Kartais (5–29%) | 1 ligoje |
| SCAPERS-phase cyclin A associated protein in the ER | Kartais (5–29%) | 1 ligoje |
| SCARF2scavenger receptor class F member 2 | Kartais (5–29%) | 1 ligoje |
| SCLT1sodium channel and clathrin linker 1 | Kartais (5–29%) | 1 ligoje |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Kartais (5–29%) | 1 ligoje |
| SEMA3Esemaphorin 3E | Kartais (5–29%) | 1 ligoje |
| SIX1SIX homeobox 1 | Kartais (5–29%) | 1 ligoje |
| SIX5SIX homeobox 5 | Kartais (5–29%) | 1 ligoje |
| SKISKI proto-oncogene | Kartais (5–29%) | 1 ligoje |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Kartais (5–29%) | 1 ligoje |
| SOX9SRY-box transcription factor 9 | Kartais (5–29%) | 2 ligose |
| SPENspen family transcriptional repressor | Kartais (5–29%) | 1 ligoje |
| SRCAPSnf2 related CREBBP activator protein | Kartais (5–29%) | 2 ligose |
| TASP1taspase 1 | Kartais (5–29%) | 1 ligoje |
| TBC1D20TBC1 domain family member 20 | Kartais (5–29%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Kartais (5–29%) | 2 ligose |
| TBX18T-box transcription factor 18 | Kartais (5–29%) | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | Kartais (5–29%) | 1 ligoje |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Kartais (5–29%) | 1 ligoje |
| TRIM32tripartite motif containing 32 | Kartais (5–29%) | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Kartais (5–29%) | 1 ligoje |
| TTC8tetratricopeptide repeat domain 8 | Kartais (5–29%) | 1 ligoje |
| UBE4Bubiquitination factor E4B | Kartais (5–29%) | 1 ligoje |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Kartais (5–29%) | 2 ligose |
| USP9Xubiquitin specific peptidase 9 X-linked | Kartais (5–29%) | 2 ligose |
| VPS35LVPS35 endosomal protein sorting factor like | Kartais (5–29%) | 1 ligoje |
| WASHC5WASH complex subunit 5 | Kartais (5–29%) | 2 ligose |
| WBP4WW domain binding protein 4 | Kartais (5–29%) | 1 ligoje |
| WDPCPWD repeat containing planar cell polarity effector | Kartais (5–29%) | 1 ligoje |
| WLSWnt ligand secretion mediator | Kartais (5–29%) | 1 ligoje |
| YY1YY1 transcription factor | Kartais (5–29%) | 2 ligose |
| ZEB2zinc finger E-box binding homeobox 2 | Kartais (5–29%) | 2 ligose |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZMYM2zinc finger MYM-type containing 2 | Kartais (5–29%) | 1 ligoje |
| APC2APC regulator of Wnt signaling pathway 2 | Retai (1–4 %) | 1 ligoje |
| ATN1atrophin 1 | Retai (1–4 %) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Retai (1–4 %) | 1 ligoje |
| EHMT1euchromatic histone lysine methyltransferase 1 | Retai (1–4 %) | 1 ligoje |
| FGF10fibroblast growth factor 10 | Retai (1–4 %) | 1 ligoje |
| FGFR3fibroblast growth factor receptor 3 | Retai (1–4 %) | 1 ligoje |
| GREB1LGREB1 like retinoic acid receptor coactivator | Retai (1–4 %) | 1 ligoje |
| NF1neurofibromin 1 | Retai (1–4 %) | 1 ligoje |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Retai (1–4 %) | 2 ligose |
| PORCNporcupine O-acyltransferase | Retai (1–4 %) | 2 ligose |
| SPARTspartin | Retai (1–4 %) | 1 ligoje |
| TBC1D24TBC1 domain family member 24 | Retai (1–4 %) | 1 ligoje |
| ARID1BAT-rich interaction domain 1B | Neužfiksuota | 1 ligoje |
| ARPC4actin related protein 2/3 complex subunit 4 | Neužfiksuota | 1 ligoje |
| ATP7AATPase copper transporting alpha | Neužfiksuota | 1 ligoje |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Neužfiksuota | 1 ligoje |
| CCBE1collagen and calcium binding EGF domains 1 | Neužfiksuota | 1 ligoje |
| CENPFcentromere protein F | Neužfiksuota | 1 ligoje |
| CHRM3cholinergic receptor muscarinic 3 | Neužfiksuota | 1 ligoje |
| CRTAPcartilage associated protein | Neužfiksuota | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Neužfiksuota | 1 ligoje |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Neužfiksuota | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Neužfiksuota | 1 ligoje |
| GLI3GLI family zinc finger 3 | Neužfiksuota | 1 ligoje |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Neužfiksuota | 1 ligoje |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Neužfiksuota | 1 ligoje |
| MASP1MBL associated serine protease 1 | Neužfiksuota | 1 ligoje |
| NBNnibrin | Neužfiksuota | 1 ligoje |
| PLD1phospholipase D1 | Neužfiksuota | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| SALL4spalt like transcription factor 4 | Neužfiksuota | 1 ligoje |
| SHHsonic hedgehog signaling molecule | Neužfiksuota | 1 ligoje |
| STRA6signaling receptor and transporter of retinol STRA6 | Neužfiksuota | 1 ligoje |
| TAPT1transmembrane anterior posterior transformation 1 | Neužfiksuota | 1 ligoje |
| TBX15T-box transcription factor 15 | Neužfiksuota | 1 ligoje |
| WNT5AWnt family member 5A | Neužfiksuota | 1 ligoje |
| XDHxanthine dehydrogenase | Neužfiksuota | 1 ligoje |
| ZIC3Zic family zinc finger 3 | 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.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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