Egenskap
Hypospadias
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Sammendrag
- Også kalt
- Hypospadia
- Kroppssystem
- Abnormality of the genitourinary system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Hypospadias 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 |
|---|---|---|
| B9D2B9 domain containing 2 | Alltid | I 1 tilstand |
| CACHD1cache domain containing 1 | Alltid | I 1 tilstand |
| CDH11cadherin 11 | Alltid | I 2 tilstander |
| DHRS3dehydrogenase/reductase 3 | Alltid | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Alltid | I 1 tilstand |
| FRYLFRY like transcription coactivator | Alltid | I 1 tilstand |
| H4C11H4 clustered histone 11 | Alltid | I 1 tilstand |
| IKZF2IKAROS family zinc finger 2 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KLF1KLF transcription factor 1 | Alltid | I 2 tilstander |
| MAN2B2mannosidase alpha class 2B member 2 | Alltid | I 1 tilstand |
| MED25mediator complex subunit 25 | Alltid | I 2 tilstander |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Alltid | I 1 tilstand |
| NDUFB7NADH:ubiquinone oxidoreductase subunit B7 | Alltid | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Alltid | I 1 tilstand |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Alltid | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Alltid | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Alltid | I 1 tilstand |
| RNU12RNA, U12 small nuclear | Alltid | I 2 tilstander |
| RNU5B-1RNA, U5B small nuclear 1 | Alltid | I 1 tilstand |
| SAMD9sterile alpha motif domain containing 9 | Alltid | I 1 tilstand |
| SLC25A10solute carrier family 25 member 10 | Alltid | I 1 tilstand |
| SOX9SRY-box transcription factor 9 | Alltid | I 4 tilstander |
| TOP2BDNA topoisomerase II beta | Alltid | I 1 tilstand |
| ZMYM3zinc finger MYM-type containing 3 | Alltid | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Svært ofte (80–99 %) | I 3 tilstander |
| CPLX1complexin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CTBP1C-terminal binding protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CUL7cullin 7 | Svært ofte (80–99 %) | I 2 tilstander |
| CYB5Acytochrome b5 type A | Svært ofte (80–99 %) | I 2 tilstander |
| CYP17A1cytochrome P450 family 17 subfamily A member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| DHX37DEAH-box helicase 37 | Svært ofte (80–99 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Svært ofte (80–99 %) | I 2 tilstander |
| HSD17B3hydroxysteroid 17-beta dehydrogenase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MAP3K1mitogen-activated protein kinase kinase kinase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| MECP2methyl-CpG binding protein 2 | Svært ofte (80–99 %) | I 2 tilstander |
| MID1midline 1 | Svært ofte (80–99 %) | I 2 tilstander |
| NELFAnegative elongation factor complex member A | Svært ofte (80–99 %) | I 1 tilstand |
Vis 344 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| NR0B1nuclear receptor subfamily 0 group B member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NR5A1nuclear receptor subfamily 5 group A member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| NSD2nuclear receptor binding SET domain protein 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Svært ofte (80–99 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Svært ofte (80–99 %) | I 2 tilstander |
| SRYsex determining region Y | Svært ofte (80–99 %) | I 4 tilstander |
| TBX22T-box transcription factor 22 | Svært ofte (80–99 %) | I 2 tilstander |
| TSHZ3teashirt zinc finger homeobox 3 | Svært ofte (80–99 %) | I 1 tilstand |
| VAMP7vesicle associated membrane protein 7 | Svært ofte (80–99 %) | I 1 tilstand |
| WT1WT1 transcription factor | Svært ofte (80–99 %) | I 3 tilstander |
| WWOXWW domain containing oxidoreductase | Svært ofte (80–99 %) | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Ofte (30–79 %) | I 1 tilstand |
| ARandrogen receptor | Ofte (30–79 %) | I 1 tilstand |
| ATP6AP2ATPase H+ transporting accessory protein 2 | Ofte (30–79 %) | I 1 tilstand |
| B3GLCTbeta 3-glucosyltransferase | Ofte (30–79 %) | I 2 tilstander |
| BBS2Bardet-Biedl syndrome 2 | Ofte (30–79 %) | I 1 tilstand |
| BCORBCL6 corepressor | Ofte (30–79 %) | I 3 tilstander |
| BRD4bromodomain containing 4 | 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 |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 3 tilstander |
| DACT1dishevelled binding antagonist of beta catenin 1 | Ofte (30–79 %) | I 2 tilstander |
| DHCR77-dehydrocholesterol reductase | Ofte (30–79 %) | I 2 tilstander |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Ofte (30–79 %) | I 1 tilstand |
| DOT1LDOT1 like histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ofte (30–79 %) | I 2 tilstander |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Ofte (30–79 %) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Ofte (30–79 %) | I 2 tilstander |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Ofte (30–79 %) | I 2 tilstander |
| EVCEvC ciliary complex subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| EVC2EvC ciliary complex subunit 2 | Ofte (30–79 %) | I 2 tilstander |
| FDFT1farnesyl-diphosphate farnesyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| FGFRL1fibroblast growth factor receptor like 1 | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 2 tilstander |
| FLNAfilamin A | Ofte (30–79 %) | I 2 tilstander |
| GINS3GINS complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| GLI1GLI family zinc finger 1 | Ofte (30–79 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Ofte (30–79 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Ofte (30–79 %) | I 1 tilstand |
| HOXA13homeobox A13 | Ofte (30–79 %) | I 2 tilstander |
| HSD3B2hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | Ofte (30–79 %) | I 2 tilstander |
| IGF2insulin like growth factor 2 | Ofte (30–79 %) | I 2 tilstander |
| KAT5lysine acetyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Blysine acetyltransferase 6B | Ofte (30–79 %) | I 1 tilstand |
| KDM5Blysine demethylase 5B | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 2 tilstander |
| LSM7LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated | Ofte (30–79 %) | I 1 tilstand |
| LSSlanosterol synthase | Ofte (30–79 %) | I 1 tilstand |
| MAB21L1mab-21 like 1 | Ofte (30–79 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Ofte (30–79 %) | I 1 tilstand |
| MAXMYC associated transcriptional regulator X | Ofte (30–79 %) | I 1 tilstand |
| MCTP2multiple C2 and transmembrane domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Ofte (30–79 %) | I 1 tilstand |
| MKKSMKKS centrosomal shuttling protein | Ofte (30–79 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ofte (30–79 %) | I 2 tilstander |
| NIPBLNIPBL cohesin loading factor | Ofte (30–79 %) | I 2 tilstander |
| OGTO-linked N-acetylglucosamine (GlcNAc) transferase | Ofte (30–79 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Ofte (30–79 %) | I 1 tilstand |
| PAX6paired box 6 | 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 2 tilstander |
| 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 |
| PLAG1PLAG1 zinc finger | Ofte (30–79 %) | I 1 tilstand |
| PRKACAprotein kinase cAMP-activated catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PRKACBprotein kinase cAMP-activated catalytic subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PTDSS1phosphatidylserine synthase 1 | Ofte (30–79 %) | I 2 tilstander |
| PUM1pumilio RNA binding family member 1 | Ofte (30–79 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Ofte (30–79 %) | I 2 tilstander |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| RPL10ribosomal protein L10 | Ofte (30–79 %) | I 3 tilstander |
| SIAH1siah E3 ubiquitin protein ligase 1 | Ofte (30–79 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Ofte (30–79 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Ofte (30–79 %) | I 1 tilstand |
| SMG8SMG8 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 1 tilstand |
| TMEM63Atransmembrane protein 63A | Ofte (30–79 %) | I 1 tilstand |
| TMEM70transmembrane protein 70 | Ofte (30–79 %) | I 2 tilstander |
| TP63tumor protein p63 | Ofte (30–79 %) | I 3 tilstander |
| TRIM8tripartite motif containing 8 | Ofte (30–79 %) | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | Ofte (30–79 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| WNT4Wnt family member 4 | Ofte (30–79 %) | I 2 tilstander |
| ZEB2zinc finger E-box binding homeobox 2 | Ofte (30–79 %) | I 3 tilstander |
| ZFXzinc finger protein X-linked | Ofte (30–79 %) | I 1 tilstand |
| ACTA1actin alpha 1, skeletal muscle | Noen ganger (5–29 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ADAT3adenosine deaminase tRNA specific 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| ARID1AAT-rich interaction domain 1A | Noen ganger (5–29 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Noen ganger (5–29 %) | I 2 tilstander |
| ARID2AT-rich interaction domain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Noen ganger (5–29 %) | I 1 tilstand |
| ARXaristaless related homeobox | Noen ganger (5–29 %) | I 2 tilstander |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 2 tilstander |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 2 tilstander |
| BRIP1BRCA1 interacting DNA helicase 1 | 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 |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Noen ganger (5–29 %) | I 1 tilstand |
| CDC42cell division cycle 42 | Noen ganger (5–29 %) | I 2 tilstander |
| CDC42BPBCDC42 binding protein kinase beta | Noen ganger (5–29 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Noen ganger (5–29 %) | I 2 tilstander |
| CDC6cell division cycle 6 | Noen ganger (5–29 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Noen ganger (5–29 %) | I 1 tilstand |
| CILK1ciliogenesis associated kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| COL3A1collagen type III alpha 1 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COLEC11collectin subfamily member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Noen ganger (5–29 %) | I 2 tilstander |
| CSPP1centrosome and spindle pole associated protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Noen ganger (5–29 %) | I 1 tilstand |
| CUX1cut like homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DLL3delta like canonical Notch ligand 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DPP9dipeptidyl peptidase 9 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DVL3dishevelled segment polarity protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Noen ganger (5–29 %) | I 2 tilstander |
| EFNB1ephrin B1 | Noen ganger (5–29 %) | I 2 tilstander |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| ERMARDER membrane associated RNA degradation | Noen ganger (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | Noen ganger (5–29 %) | I 1 tilstand |
| FANCBFA complementation group B | Noen ganger (5–29 %) | I 1 tilstand |
| FANCCFA complementation group C | Noen ganger (5–29 %) | I 1 tilstand |
| FANCD2FA complementation group D2 | Noen ganger (5–29 %) | I 1 tilstand |
| FANCEFA complementation group E | Noen ganger (5–29 %) | I 1 tilstand |
| FANCFFA complementation group F | Noen ganger (5–29 %) | I 1 tilstand |
| FANCGFA complementation group G | Noen ganger (5–29 %) | I 1 tilstand |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCLFA complementation group L | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Noen ganger (5–29 %) | I 2 tilstander |
| FBXL4F-box and leucine rich repeat protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOCADfocadhesin | Noen ganger (5–29 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXF1forkhead box F1 | Noen ganger (5–29 %) | I 1 tilstand |
| FRAS1Fraser extracellular matrix complex subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FREM2FRAS1 related extracellular matrix 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FZD2frizzled class receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Noen ganger (5–29 %) | I 1 tilstand |
| GFM1G elongation factor mitochondrial 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Noen ganger (5–29 %) | I 4 tilstander |
| GMNNgeminin DNA replication inhibitor | Noen ganger (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| GPC3glypican 3 | Noen ganger (5–29 %) | I 3 tilstander |
| GPC4glypican 4 | Noen ganger (5–29 %) | I 1 tilstand |
| GRB10growth factor receptor bound protein 10 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIP1glutamate receptor interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Noen ganger (5–29 %) | I 1 tilstand |
| HBA1hemoglobin subunit alpha 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HBA2hemoglobin subunit alpha 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Noen ganger (5–29 %) | I 2 tilstander |
| HEATR3HEAT repeat containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| HES7hes family bHLH transcription factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Noen ganger (5–29 %) | I 1 tilstand |
| HNF1BHNF1 homeobox B | Noen ganger (5–29 %) | I 2 tilstander |
| HOXD13homeobox D13 | Noen ganger (5–29 %) | I 1 tilstand |
| HSPG2heparan sulfate proteoglycan 2 | Noen ganger (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Noen ganger (5–29 %) | I 1 tilstand |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM1Alysine demethylase 1A | Noen ganger (5–29 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Noen ganger (5–29 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0586KIAA0586 | Noen ganger (5–29 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Noen ganger (5–29 %) | I 1 tilstand |
| KIFBPkinesin family binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL40kelch like family member 40 | Noen ganger (5–29 %) | I 1 tilstand |
| KLHL41kelch like family member 41 | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Noen ganger (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| LFNGLFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| LMNAlamin A/C | Noen ganger (5–29 %) | I 1 tilstand |
| LMOD3leiomodin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Noen ganger (5–29 %) | I 1 tilstand |
| LUZP1leucine zipper protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAB21L2mab-21 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAD2L2mitotic arrest deficient 2 like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP2K1mitogen-activated protein kinase kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPRE2microtubule associated protein RP/EB family member 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MARK2microtubule affinity regulating kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Noen ganger (5–29 %) | I 1 tilstand |
| MESP2mesoderm posterior bHLH transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MMP23Bmatrix metallopeptidase 23B | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFA6NADH:ubiquinone oxidoreductase subunit A6 | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Noen ganger (5–29 %) | I 2 tilstander |
| NEBnebulin | Noen ganger (5–29 %) | I 2 tilstander |
| NOTCH2notch receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| OBSL1obscurin like cytoskeletal adaptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Noen ganger (5–29 %) | I 2 tilstander |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Noen ganger (5–29 %) | I 2 tilstander |
| PDPNpodoplanin | Noen ganger (5–29 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Noen ganger (5–29 %) | I 2 tilstander |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Noen ganger (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Noen ganger (5–29 %) | I 1 tilstand |
| PITX2paired like homeodomain 2 | Noen ganger (5–29 %) | I 2 tilstander |
| POLR3ARNA polymerase III subunit A | Noen ganger (5–29 %) | I 2 tilstander |
| PORcytochrome p450 oxidoreductase | Noen ganger (5–29 %) | I 2 tilstander |
| POU6F2POU class 6 homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | 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 |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Noen ganger (5–29 %) | I 1 tilstand |
| PSPHphosphoserine phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Noen ganger (5–29 %) | I 3 tilstander |
| PUF60poly(U) binding splicing factor 60 | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51RAD51 recombinase | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Noen ganger (5–29 %) | I 3 tilstander |
| RESTRE1 silencing transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Noen ganger (5–29 %) | I 1 tilstand |
| RIPPLY2ripply transcriptional repressor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL11ribosomal protein L11 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL15ribosomal protein L15 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL18ribosomal protein L18 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL26ribosomal protein L26 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL27ribosomal protein L27 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL31ribosomal protein L31 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL35ribosomal protein L35 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Noen ganger (5–29 %) | I 2 tilstander |
| RPL5ribosomal protein L5 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL8ribosomal protein L8 | Noen ganger (5–29 %) | I 1 tilstand |
| RPL9ribosomal protein L9 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS10ribosomal protein S10 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS15Aribosomal protein S15a | Noen ganger (5–29 %) | I 1 tilstand |
| RPS17ribosomal protein S17 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS19ribosomal protein S19 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS24ribosomal protein S24 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS27ribosomal protein S27 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS28ribosomal protein S28 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS29ribosomal protein S29 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS7ribosomal protein S7 | Noen ganger (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RTTNrotatin | Noen ganger (5–29 %) | I 1 tilstand |
| SALL1spalt like transcription factor 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SCUBE3signal peptide, CUB domain and EGF like domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Noen ganger (5–29 %) | I 2 tilstander |
| SKISKI proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| SKIC3SKI3 subunit of superkiller complex | Noen ganger (5–29 %) | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMCHD1structural maintenance of chromosomes flexible hinge domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMSspermine synthase | Noen ganger (5–29 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| SOX4SRY-box transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Noen ganger (5–29 %) | I 2 tilstander |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX6T-box transcription factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF12transcription factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| THOC6THO complex subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Noen ganger (5–29 %) | I 1 tilstand |
| TONSLtonsoku like, DNA repair protein | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM28tripartite motif containing 28 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Noen ganger (5–29 %) | I 1 tilstand |
| TSR2TSR2 ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| TUBBtubulin beta class I | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Aubiquitin conjugating enzyme E2 A | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | 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 |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Noen ganger (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Noen ganger (5–29 %) | I 2 tilstander |
| WNT5AWnt family member 5A | Noen ganger (5–29 %) | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Noen ganger (5–29 %) | I 2 tilstander |
| ZMYM2zinc finger MYM-type containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Sjelden (1–4%) | I 1 tilstand |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Sjelden (1–4%) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Sjelden (1–4%) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sjelden (1–4%) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Sjelden (1–4%) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Sjelden (1–4%) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Sjelden (1–4%) | I 1 tilstand |
| SETBP1SET binding protein 1 | Sjelden (1–4%) | I 2 tilstander |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Sjelden (1–4%) | I 1 tilstand |
| ATRATR checkpoint kinase | Ikke registrert | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ikke registrert | I 2 tilstander |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Ikke registrert | I 1 tilstand |
| CARS1cysteinyl-tRNA synthetase 1 | Ikke registrert | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Ikke registrert | I 1 tilstand |
| CHRNGcholinergic receptor nicotinic gamma subunit | Ikke registrert | I 1 tilstand |
| CUL4Bcullin 4B | Ikke registrert | I 1 tilstand |
| CYP21A2cytochrome P450 family 21 subfamily A member 2 | Ikke registrert | I 1 tilstand |
| DKC1dyskerin pseudouridine synthase 1 | Ikke registrert | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Ikke registrert | I 2 tilstander |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Ikke registrert | I 1 tilstand |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Ikke registrert | I 1 tilstand |
| PCNTpericentrin | Ikke registrert | I 1 tilstand |
| RBBP8RB binding protein 8, endonuclease | Ikke registrert | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registrert | I 1 tilstand |
| RSPO1R-spondin 1 | Ikke registrert | I 1 tilstand |
| SETD5SET domain containing 5 | Ikke registrert | I 1 tilstand |
| SIX6SIX homeobox 6 | Ikke registrert | I 1 tilstand |
| SSR4signal sequence receptor subunit 4 | Ikke registrert | I 1 tilstand |
| STARsteroidogenic acute regulatory protein | Ikke registrert | I 1 tilstand |
| TAPT1transmembrane anterior posterior transformation 1 | Ikke registrert | I 1 tilstand |
| TFAP2Atranscription factor AP-2 alpha | Ikke registrert | I 1 tilstand |
| TTC8tetratricopeptide repeat domain 8 | Ikke registrert | I 1 tilstand |
| UBA1ubiquitin like modifier activating enzyme 1 | Ikke registrert | I 1 tilstand |
| WDR35WD repeat domain 35 | Ikke registrert | I 1 tilstand |
| WNT7AWnt family member 7A | Ikke registrert | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | 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.
Smalere egenskaper
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.
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