Egenskap
Hydronephrosis
Severe distention of the kidney with dilation of the renal pelvis and calices.
Sammendrag
- Kroppssystem
- Abnormality of the genitourinary system
ReferansegenomGRCh38hg38
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Få mitt Genome Test282 gener knyttet til Hydronephrosis
Endringer i disse genene forårsaker sjeldne tilstander der Hydronephrosis forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| AMOTL1angiomotin like 1 | Alltid | I 1 tilstand |
| ARNT2aryl hydrocarbon receptor nuclear translocator 2 | Alltid | I 1 tilstand |
| B3GALT6beta-1,3-galactosyltransferase 6 | Alltid | I 1 tilstand |
| CACHD1cache domain containing 1 | Alltid | I 1 tilstand |
| CD81CD81 molecule | Alltid | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Alltid | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Alltid | I 3 tilstander |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Alltid | I 2 tilstander |
| EN1engrailed homeobox 1 | Alltid | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Alltid | I 2 tilstander |
| FBXL4F-box and leucine rich repeat protein 4 | Alltid | I 1 tilstand |
| FLNAfilamin A | Alltid | I 7 tilstander |
| GPC3glypican 3 | Alltid | I 2 tilstander |
| HOXA13homeobox A13 | Alltid | I 1 tilstand |
| IARS1isoleucyl-tRNA synthetase 1 | Alltid | I 2 tilstander |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KIAA0753KIAA0753 | Alltid | I 1 tilstand |
| LMOD1leiomodin 1 | Alltid | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Alltid | I 1 tilstand |
| MED12mediator complex subunit 12 | Alltid | I 2 tilstander |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Alltid | I 2 tilstander |
| NCAPG2non-SMC condensin II complex subunit G2 | Alltid | I 1 tilstand |
| NFIAnuclear factor I A | Alltid | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 1 tilstand |
| POLR1ARNA polymerase I subunit A | Alltid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Alltid | I 1 tilstand |
| SGSM3small G protein signaling modulator 3 | Alltid | I 1 tilstand |
| TOP2BDNA topoisomerase II beta | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Svært ofte (80–99 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Svært ofte (80–99 %) | I 2 tilstander |
| POLEDNA polymerase epsilon, catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Svært ofte (80–99 %) | I 1 tilstand |
| ACTBactin beta | Ofte (30–79 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| ACTG2actin gamma 2, smooth muscle | Ofte (30–79 %) | I 2 tilstander |
| BBS12Bardet-Biedl syndrome 12 | Ofte (30–79 %) | I 2 tilstander |
Vis 242 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 1 tilstand |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 1 tilstand |
| BNC2basonuclin zinc finger protein 2 | Ofte (30–79 %) | I 1 tilstand |
| CCNQcyclin Q | Ofte (30–79 %) | I 1 tilstand |
| CHRNA3cholinergic receptor nicotinic alpha 3 subunit | Ofte (30–79 %) | I 1 tilstand |
| COG1component of oligomeric golgi complex 1 | Ofte (30–79 %) | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Ofte (30–79 %) | I 1 tilstand |
| CPT2carnitine palmitoyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| DLG5discs large MAGUK scaffold protein 5 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2I1dynein 2 intermediate chain 1 | Ofte (30–79 %) | I 1 tilstand |
| DYNC2I2dynein 2 intermediate chain 2 | Ofte (30–79 %) | I 1 tilstand |
| EMILIN1elastin microfibril interfacer 1 | Ofte (30–79 %) | I 1 tilstand |
| ERI1exoribonuclease 1 | Ofte (30–79 %) | I 2 tilstander |
| GATA3GATA binding protein 3 | Ofte (30–79 %) | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GPC4glypican 4 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 3 tilstander |
| HPSE2heparanase 2 (inactive) | Ofte (30–79 %) | I 2 tilstander |
| IFT80intraflagellar transport 80 | Ofte (30–79 %) | I 1 tilstand |
| ITGA6integrin subunit alpha 6 | Ofte (30–79 %) | I 1 tilstand |
| ITGB4integrin subunit beta 4 | Ofte (30–79 %) | I 2 tilstander |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Ofte (30–79 %) | I 2 tilstander |
| LRRC7leucine rich repeat containing 7 | Ofte (30–79 %) | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Ofte (30–79 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ofte (30–79 %) | I 3 tilstander |
| MYOD1myogenic differentiation 1 | Ofte (30–79 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ofte (30–79 %) | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ofte (30–79 %) | I 2 tilstander |
| PEX10peroxisomal biogenesis factor 10 | Ofte (30–79 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Ofte (30–79 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Ofte (30–79 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Ofte (30–79 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Ofte (30–79 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Ofte (30–79 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Ofte (30–79 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Ofte (30–79 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Ofte (30–79 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Ofte (30–79 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Ofte (30–79 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 1 tilstand |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PSKH1protein serine kinase H1 | Ofte (30–79 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Ofte (30–79 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Ofte (30–79 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ofte (30–79 %) | I 2 tilstander |
| SETBP1SET binding protein 1 | Ofte (30–79 %) | I 2 tilstander |
| SOX17SRY-box transcription factor 17 | Ofte (30–79 %) | I 1 tilstand |
| TP63tumor protein p63 | Ofte (30–79 %) | I 2 tilstander |
| WDR35WD repeat domain 35 | Ofte (30–79 %) | I 1 tilstand |
| XPO1exportin 1 | Ofte (30–79 %) | I 1 tilstand |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| APCAPC regulator of Wnt signaling pathway | Noen ganger (5–29 %) | I 1 tilstand |
| ARL3ARF like GTPase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ARL6ARF like GTPase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Noen ganger (5–29 %) | I 2 tilstander |
| B3GLCTbeta 3-glucosyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| BAP1BRCA1 associated deubiquitinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBIP1BBSome interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS1Bardet-Biedl syndrome 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS10Bardet-Biedl syndrome 10 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS2Bardet-Biedl syndrome 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS4Bardet-Biedl syndrome 4 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS5Bardet-Biedl syndrome 5 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS7Bardet-Biedl syndrome 7 | Noen ganger (5–29 %) | I 1 tilstand |
| BBS9Bardet-Biedl syndrome 9 | Noen ganger (5–29 %) | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Noen ganger (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 2 tilstander |
| BRF1BRF1 general transcription factor IIIB subunit | Noen ganger (5–29 %) | I 1 tilstand |
| CA2carbonic anhydrase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CASZ1castor zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Noen ganger (5–29 %) | I 2 tilstander |
| CEP19centrosomal protein 19 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Noen ganger (5–29 %) | I 1 tilstand |
| CFAP418cilia and flagella associated protein 418 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD7chromodomain helicase DNA binding protein 7 | Noen ganger (5–29 %) | I 2 tilstander |
| CHST14carbohydrate sulfotransferase 14 | Noen ganger (5–29 %) | I 2 tilstander |
| COL18A1collagen type XVIII alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDB1damage specific DNA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DDX6DEAD-box helicase 6 | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 2 tilstander |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DSEdermatan sulfate epimerase | Noen ganger (5–29 %) | I 1 tilstand |
| EBPEBP cholestenol delta-isomerase | Noen ganger (5–29 %) | I 2 tilstander |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Noen ganger (5–29 %) | I 3 tilstander |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Noen ganger (5–29 %) | I 1 tilstand |
| FOXF1forkhead box F1 | Noen ganger (5–29 %) | I 2 tilstander |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HOXD13homeobox D13 | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT172intraflagellar transport 172 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT27intraflagellar transport 27 | Noen ganger (5–29 %) | I 2 tilstander |
| IFT56intraflagellar transport 56 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT74intraflagellar transport 74 | Noen ganger (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Noen ganger (5–29 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Noen ganger (5–29 %) | I 2 tilstander |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Noen ganger (5–29 %) | I 2 tilstander |
| KMT2Dlysine methyltransferase 2D | Noen ganger (5–29 %) | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 2 tilstander |
| LAMA3laminin subunit alpha 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMB3laminin subunit beta 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LAMC2laminin subunit gamma 2 | Noen ganger (5–29 %) | I 1 tilstand |
| LMNB1lamin B1 | Noen ganger (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LZTFL1leucine zipper transcription factor like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| MAP2K2mitogen-activated protein kinase kinase 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED11mediator complex subunit 11 | Noen ganger (5–29 %) | I 1 tilstand |
| MED25mediator complex subunit 25 | Noen ganger (5–29 %) | I 2 tilstander |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MIA3MIA SH3 domain ER export factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MID1midline 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Noen ganger (5–29 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Noen ganger (5–29 %) | I 1 tilstand |
| MYMXmyomixer, myoblast fusion factor | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFAF3NADH:ubiquinone oxidoreductase complex assembly factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| NPHP1nephrocystin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NRIP1nuclear receptor interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| NXNnucleoredoxin | Noen ganger (5–29 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Noen ganger (5–29 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Noen ganger (5–29 %) | I 1 tilstand |
| PAX7paired box 7 | Noen ganger (5–29 %) | I 1 tilstand |
| PDPNpodoplanin | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Noen ganger (5–29 %) | I 3 tilstander |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Noen ganger (5–29 %) | I 3 tilstander |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Noen ganger (5–29 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Noen ganger (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Noen ganger (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Noen ganger (5–29 %) | I 1 tilstand |
| PLECplectin | Noen ganger (5–29 %) | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Noen ganger (5–29 %) | I 1 tilstand |
| PRDM16PR/SET domain 16 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKCZprotein kinase C zeta | Noen ganger (5–29 %) | I 1 tilstand |
| PRTN3proteinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Noen ganger (5–29 %) | I 1 tilstand |
| RAB18RAB18, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RAB3GAP1RAB3 GTPase activating protein catalytic subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RBM10RNA binding motif protein 10 | Noen ganger (5–29 %) | I 2 tilstander |
| RECQL4RecQ like helicase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Noen ganger (5–29 %) | I 1 tilstand |
| RORARAR related orphan receptor A | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SCAF4SR-related CTD associated factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SCAPERS-phase cyclin A associated protein in the ER | Noen ganger (5–29 %) | I 1 tilstand |
| SCARF2scavenger receptor class F member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCLT1sodium channel and clathrin linker 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Esemaphorin 3E | Noen ganger (5–29 %) | I 1 tilstand |
| SIX1SIX homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SIX5SIX homeobox 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SKISKI proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| SOS1SOS Ras/Rac guanine nucleotide exchange factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Noen ganger (5–29 %) | I 2 tilstander |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Noen ganger (5–29 %) | I 2 tilstander |
| TASP1taspase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D20TBC1 domain family member 20 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TBX18T-box transcription factor 18 | Noen ganger (5–29 %) | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM32tripartite motif containing 32 | Noen ganger (5–29 %) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE4Bubiquitination factor E4B | Noen ganger (5–29 %) | I 1 tilstand |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 2 tilstander |
| VPS35LVPS35 endosomal protein sorting factor like | Noen ganger (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Noen ganger (5–29 %) | I 2 tilstander |
| WBP4WW domain binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| WDPCPWD repeat containing planar cell polarity effector | Noen ganger (5–29 %) | I 1 tilstand |
| WLSWnt ligand secretion mediator | Noen ganger (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| ZEB2zinc finger E-box binding homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| ZFXzinc finger protein X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjelden (1–4%) | I 1 tilstand |
| ATN1atrophin 1 | Sjelden (1–4%) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sjelden (1–4%) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sjelden (1–4%) | I 1 tilstand |
| FGF10fibroblast growth factor 10 | Sjelden (1–4%) | I 1 tilstand |
| FGFR3fibroblast growth factor receptor 3 | Sjelden (1–4%) | I 1 tilstand |
| GREB1LGREB1 like retinoic acid receptor coactivator | Sjelden (1–4%) | I 1 tilstand |
| NF1neurofibromin 1 | Sjelden (1–4%) | I 1 tilstand |
| NSDHLNAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL | Sjelden (1–4%) | I 2 tilstander |
| PORCNporcupine O-acyltransferase | Sjelden (1–4%) | I 2 tilstander |
| SPARTspartin | Sjelden (1–4%) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Sjelden (1–4%) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ikke registrert | I 1 tilstand |
| ARPC4actin related protein 2/3 complex subunit 4 | Ikke registrert | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Ikke registrert | I 1 tilstand |
| B4GAT1beta-1,4-glucuronyltransferase 1 | Ikke registrert | I 1 tilstand |
| CCBE1collagen and calcium binding EGF domains 1 | Ikke registrert | I 1 tilstand |
| CENPFcentromere protein F | Ikke registrert | I 1 tilstand |
| CHRM3cholinergic receptor muscarinic 3 | Ikke registrert | I 1 tilstand |
| CRTAPcartilage associated protein | Ikke registrert | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ikke registrert | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registrert | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ikke registrert | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Ikke registrert | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ikke registrert | I 1 tilstand |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Ikke registrert | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Ikke registrert | I 1 tilstand |
| NBNnibrin | Ikke registrert | I 1 tilstand |
| PLD1phospholipase D1 | Ikke registrert | I 1 tilstand |
| RAB23RAB23, member RAS oncogene family | Ikke registrert | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Ikke registrert | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Ikke registrert | I 1 tilstand |
| STRA6signaling receptor and transporter of retinol STRA6 | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TBX15T-box transcription factor 15 | Ikke registrert | I 1 tilstand |
| WNT5AWnt family member 5A | Ikke registrert | I 1 tilstand |
| XDHxanthine dehydrogenase | Ikke registrert | I 1 tilstand |
| ZIC3Zic family zinc finger 3 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Bredere egenskaper
Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
Én test. En livstid med svar.
Fra 449 $Gratis frakt · Resultater på 6–8 uker