Kenmerk
Renal failure
Klinische naam: Renal insufficiency
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Samenvatting
- Ook bekend als
- Renal failure in adulthood
- Lichaamssysteem
- Abnormality of the genitourinary system
ReferentiegenoomGRCh38hg38
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Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Renal failure voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| AGXTalanine--glyoxylate aminotransferase | Altijd | In 1 aandoening |
| ANKS6ankyrin repeat and sterile alpha motif domain containing 6 | Altijd | In 1 aandoening |
| APRTadenine phosphoribosyltransferase | Altijd | In 2 aandoeningen |
| BBIP1BBSome interacting protein 1 | Altijd | In 1 aandoening |
| CEP290centrosomal protein 290 | Altijd | In 2 aandoeningen |
| CLDN16claudin 16 | Altijd | In 1 aandoening |
| COL4A3collagen type IV alpha 3 chain | Altijd | In 4 aandoeningen |
| CPT2carnitine palmitoyltransferase 2 | Altijd | In 4 aandoeningen |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Altijd | In 2 aandoeningen |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Altijd | In 3 aandoeningen |
| KDM6Alysine demethylase 6A | Altijd | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Altijd | In 1 aandoening |
| LAMB2laminin subunit beta 2 | Altijd | In 2 aandoeningen |
| LYZlysozyme | Altijd | In 1 aandoening |
| MAPKBP1mitogen-activated protein kinase binding protein 1 | Altijd | In 1 aandoening |
| MDM2MDM2 proto-oncogene | Altijd | In 1 aandoening |
| NEK8NIMA related kinase 8 | Altijd | In 3 aandoeningen |
| NPHP3nephrocystin 3 | Altijd | In 3 aandoeningen |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Altijd | In 1 aandoening |
| PSKH1protein serine kinase H1 | Altijd | In 1 aandoening |
| RMND1required for meiotic nuclear division 1 homolog | Altijd | In 1 aandoening |
| RPGRIP1LRPGRIP1 like | Altijd | In 3 aandoeningen |
| SCARB2scavenger receptor class B member 2 | Altijd | In 1 aandoening |
| SLC34A1solute carrier family 34 member 1 | Altijd | In 1 aandoening |
| TMEM67transmembrane protein 67 | Altijd | In 3 aandoeningen |
| UMODuromodulin | Altijd | In 1 aandoening |
| ALG5ALG5 dolichyl-phosphate beta-glucosyltransferase | Heel vaak (80–99%) | In 2 aandoeningen |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Heel vaak (80–99%) | In 1 aandoening |
| BICC1BicC family RNA binding protein 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| COL4A1collagen type IV alpha 1 chain | Heel vaak (80–99%) | In 2 aandoeningen |
| COL4A4collagen type IV alpha 4 chain | Heel vaak (80–99%) | In 3 aandoeningen |
| DNAJB11DnaJ heat shock protein family (Hsp40) member B11 | Heel vaak (80–99%) | In 2 aandoeningen |
| FN1fibronectin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| GANABglucosidase II alpha subunit | Heel vaak (80–99%) | In 1 aandoening |
| GLAgalactosidase alpha | Heel vaak (80–99%) | In 2 aandoeningen |
| HNF1BHNF1 homeobox B | Heel vaak (80–99%) | In 2 aandoeningen |
| IFT140intraflagellar transport 140 | Heel vaak (80–99%) | In 2 aandoeningen |
| LMX1BLIM homeobox transcription factor 1 beta | Heel vaak (80–99%) | In 4 aandoeningen |
| OCRLOCRL inositol polyphosphate-5-phosphatase | Heel vaak (80–99%) | In 2 aandoeningen |
| PAX2paired box 2 | Heel vaak (80–99%) | In 1 aandoening |
Toon nog 272 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| PKD1polycystin 1, transient receptor potential channel interacting | Heel vaak (80–99%) | In 2 aandoeningen |
| PKD2polycystin 2, transient receptor potential cation channel | Heel vaak (80–99%) | In 2 aandoeningen |
| ACSL4acyl-CoA synthetase long chain family member 4 | Vaak (30–79%) | In 1 aandoening |
| AMMECR1AMMECR nuclear protein 1 | Vaak (30–79%) | In 1 aandoening |
| ATP2A2ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 | Vaak (30–79%) | In 1 aandoening |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Vaak (30–79%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Vaak (30–79%) | In 1 aandoening |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Vaak (30–79%) | In 1 aandoening |
| CCNQcyclin Q | Vaak (30–79%) | In 1 aandoening |
| CFHR5complement factor H related 5 | Vaak (30–79%) | In 1 aandoening |
| CHRM3cholinergic receptor muscarinic 3 | Vaak (30–79%) | In 1 aandoening |
| CLIP2CAP-Gly domain containing linker protein 2 | Vaak (30–79%) | In 1 aandoening |
| COG1component of oligomeric golgi complex 1 | Vaak (30–79%) | In 1 aandoening |
| COL4A5collagen type IV alpha 5 chain | Vaak (30–79%) | In 2 aandoeningen |
| CORINcorin, serine peptidase | Vaak (30–79%) | In 1 aandoening |
| CTNScystinosin, lysosomal cystine transporter | Vaak (30–79%) | In 2 aandoeningen |
| DACT1dishevelled binding antagonist of beta catenin 1 | Vaak (30–79%) | In 1 aandoening |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Vaak (30–79%) | In 1 aandoening |
| DNASE1L3deoxyribonuclease 1L3 | Vaak (30–79%) | In 1 aandoening |
| DZIP1LDAZ interacting zinc finger protein 1 like | Vaak (30–79%) | In 1 aandoening |
| EIF4Heukaryotic translation initiation factor 4H | Vaak (30–79%) | In 1 aandoening |
| ELNelastin | Vaak (30–79%) | In 2 aandoeningen |
| FAM20AFAM20A golgi associated secretory pathway pseudokinase | Vaak (30–79%) | In 2 aandoeningen |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Vaak (30–79%) | In 1 aandoening |
| FLT1fms related receptor tyrosine kinase 1 | Vaak (30–79%) | In 1 aandoening |
| GATA3GATA binding protein 3 | Vaak (30–79%) | In 1 aandoening |
| GTF2Igeneral transcription factor IIi | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD1GTF2I repeat domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GTF2IRD2GTF2I repeat domain containing 2 | Vaak (30–79%) | In 1 aandoening |
| HMBShydroxymethylbilane synthase | Vaak (30–79%) | In 1 aandoening |
| HPRT1hypoxanthine phosphoribosyltransferase 1 | Vaak (30–79%) | In 3 aandoeningen |
| IFT56intraflagellar transport 56 | Vaak (30–79%) | In 1 aandoening |
| IRAK1interleukin 1 receptor associated kinase 1 | Vaak (30–79%) | In 1 aandoening |
| KCNE5potassium voltage-gated channel subfamily E regulatory subunit 5 | Vaak (30–79%) | In 1 aandoening |
| KCTD1potassium channel tetramerization domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| LIMK1LIM domain kinase 1 | Vaak (30–79%) | In 1 aandoening |
| LPIN1lipin 1 | Vaak (30–79%) | In 1 aandoening |
| MAFBMAF bZIP transcription factor B | Vaak (30–79%) | In 1 aandoening |
| MEFVMEFV innate immunity regulator, pyrin | Vaak (30–79%) | In 2 aandoeningen |
| METTL27methyltransferase like 27 | Vaak (30–79%) | In 1 aandoening |
| MMEmembrane metalloendopeptidase | Vaak (30–79%) | In 1 aandoening |
| MT-CO1mitochondrially encoded cytochrome c oxidase I | Vaak (30–79%) | In 1 aandoening |
| MT-CO3mitochondrially encoded cytochrome c oxidase III | Vaak (30–79%) | In 1 aandoening |
| MT-TTmitochondrially encoded tRNA-Thr (ACN) | Vaak (30–79%) | In 1 aandoening |
| MYH9myosin heavy chain 9 | Vaak (30–79%) | In 1 aandoening |
| NCF1neutrophil cytosolic factor 1 | Vaak (30–79%) | In 1 aandoening |
| NFS1NFS1 cysteine desulfurase | Vaak (30–79%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Vaak (30–79%) | In 3 aandoeningen |
| OBSCNobscurin, cytoskeletal calmodulin and titin-interacting RhoGEF | Vaak (30–79%) | In 2 aandoeningen |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Vaak (30–79%) | In 2 aandoeningen |
| PNPLA6patatin like domain 6, lysophospholipase | Vaak (30–79%) | In 1 aandoening |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Vaak (30–79%) | In 3 aandoeningen |
| RFC2replication factor C subunit 2 | Vaak (30–79%) | In 1 aandoening |
| SALL1spalt like transcription factor 1 | Vaak (30–79%) | In 2 aandoeningen |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Vaak (30–79%) | In 1 aandoening |
| SCNN1Asodium channel epithelial 1 subunit alpha | Vaak (30–79%) | In 1 aandoening |
| SCNN1Bsodium channel epithelial 1 subunit beta | Vaak (30–79%) | In 2 aandoeningen |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Vaak (30–79%) | In 1 aandoening |
| SHPKsedoheptulokinase | Vaak (30–79%) | In 1 aandoening |
| SLC30A9solute carrier family 30 member 9 | Vaak (30–79%) | In 1 aandoening |
| SLC41A1solute carrier family 41 member 1 | Vaak (30–79%) | In 1 aandoening |
| SPP1secreted phosphoprotein 1 | Vaak (30–79%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Vaak (30–79%) | In 2 aandoeningen |
| STOX1storkhead box 1 | Vaak (30–79%) | In 1 aandoening |
| STX1Asyntaxin 1A | Vaak (30–79%) | In 1 aandoening |
| TBL2transducin beta like 2 | Vaak (30–79%) | In 1 aandoening |
| TMEM270transmembrane protein 270 | Vaak (30–79%) | In 1 aandoening |
| VPS37DVPS37D subunit of ESCRT-I | Vaak (30–79%) | In 1 aandoening |
| WDR73WD repeat domain 73 | Vaak (30–79%) | In 2 aandoeningen |
| WT1WT1 transcription factor | Vaak (30–79%) | In 3 aandoeningen |
| ZNF592zinc finger protein 592 | Vaak (30–79%) | In 1 aandoening |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Soms (5–29%) | In 1 aandoening |
| ALDOBaldolase, fructose-bisphosphate B | Soms (5–29%) | In 1 aandoening |
| ALG1ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Soms (5–29%) | In 1 aandoening |
| AP1S3adaptor related protein complex 1 subunit sigma 3 | Soms (5–29%) | In 1 aandoening |
| AP2S1adaptor related protein complex 2 subunit sigma 1 | Soms (5–29%) | In 1 aandoening |
| APC2APC regulator of Wnt signaling pathway 2 | Soms (5–29%) | In 1 aandoening |
| AQP2aquaporin 2 | Soms (5–29%) | In 1 aandoening |
| ASLargininosuccinate lyase | Soms (5–29%) | In 1 aandoening |
| AVPR2arginine vasopressin receptor 2 | Soms (5–29%) | In 1 aandoening |
| BNC2basonuclin zinc finger protein 2 | Soms (5–29%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Soms (5–29%) | In 1 aandoening |
| BRIP1BRCA1 interacting DNA helicase 1 | Soms (5–29%) | In 1 aandoening |
| BTNL2butyrophilin like 2 | Soms (5–29%) | In 1 aandoening |
| C4Acomplement C4A (Chido/Rodgers blood group) | Soms (5–29%) | In 1 aandoening |
| CALRcalreticulin | Soms (5–29%) | In 1 aandoening |
| CAV1caveolin 1 | Soms (5–29%) | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Soms (5–29%) | In 2 aandoeningen |
| CCN2cellular communication network factor 2 | Soms (5–29%) | In 1 aandoening |
| CCR1C-C motif chemokine receptor 1 | Soms (5–29%) | In 1 aandoening |
| CCR6C-C motif chemokine receptor 6 | Soms (5–29%) | In 1 aandoening |
| CDC73cell division cycle 73 | Soms (5–29%) | In 3 aandoeningen |
| CEP120centrosomal protein 120 | Soms (5–29%) | In 1 aandoening |
| CHD4chromodomain helicase DNA binding protein 4 | Soms (5–29%) | In 1 aandoening |
| CLPBClpB family mitochondrial disaggregase | Soms (5–29%) | In 1 aandoening |
| COL7A1collagen type VII alpha 1 chain | Soms (5–29%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Soms (5–29%) | In 1 aandoening |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Soms (5–29%) | In 1 aandoening |
| DGKEdiacylglycerol kinase epsilon | Soms (5–29%) | In 1 aandoening |
| DLSTdihydrolipoamide S-succinyltransferase | Soms (5–29%) | In 1 aandoening |
| DNMT3ADNA methyltransferase 3 alpha | Soms (5–29%) | In 1 aandoening |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Soms (5–29%) | In 1 aandoening |
| DYNC2I1dynein 2 intermediate chain 1 | Soms (5–29%) | In 1 aandoening |
| DYNC2I2dynein 2 intermediate chain 2 | Soms (5–29%) | In 1 aandoening |
| DYNC2LI1dynein cytoplasmic 2 light intermediate chain 1 | Soms (5–29%) | In 1 aandoening |
| EHMT1euchromatic histone lysine methyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Soms (5–29%) | In 2 aandoeningen |
| ELP1elongator acetyltransferase complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| EPAS1endothelial PAS domain protein 1 | Soms (5–29%) | In 1 aandoening |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Soms (5–29%) | In 1 aandoening |
| ERCC6ERCC excision repair 6, chromatin remodeling factor | Soms (5–29%) | In 3 aandoeningen |
| ERCC8ERCC excision repair 8, CSA ubiquitin ligase complex subunit | Soms (5–29%) | In 3 aandoeningen |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Soms (5–29%) | In 1 aandoening |
| F5coagulation factor V | Soms (5–29%) | In 1 aandoening |
| FAAP100FA core complex associated protein 100 | Soms (5–29%) | In 1 aandoening |
| FANCAFA complementation group A | Soms (5–29%) | In 1 aandoening |
| FANCBFA complementation group B | Soms (5–29%) | In 1 aandoening |
| FANCCFA complementation group C | Soms (5–29%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 1 aandoening |
| FANCEFA complementation group E | Soms (5–29%) | In 1 aandoening |
| FANCFFA complementation group F | Soms (5–29%) | In 1 aandoening |
| FANCGFA complementation group G | Soms (5–29%) | In 1 aandoening |
| FANCIFA complementation group I | Soms (5–29%) | In 1 aandoening |
| FANCLFA complementation group L | Soms (5–29%) | In 1 aandoening |
| FANCMFA complementation group M | Soms (5–29%) | In 1 aandoening |
| FASFas cell surface death receptor | Soms (5–29%) | In 2 aandoeningen |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FHfumarate hydratase | Soms (5–29%) | In 1 aandoening |
| FUZfuzzy planar cell polarity protein | Soms (5–29%) | In 1 aandoening |
| FXYD2FXYD domain containing ion transport regulator 2 | Soms (5–29%) | In 1 aandoening |
| GCM2GCM transcription factor 2 | Soms (5–29%) | In 1 aandoening |
| GPR35G protein-coupled receptor 35 | Soms (5–29%) | In 1 aandoening |
| GRHPRglyoxylate and hydroxypyruvate reductase | Soms (5–29%) | In 2 aandoeningen |
| HDAC8histone deacetylase 8 | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 3 aandoeningen |
| HLA-DPA1major histocompatibility complex, class II, DP alpha 1 | Soms (5–29%) | In 1 aandoening |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Soms (5–29%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Soms (5–29%) | In 3 aandoeningen |
| HPSE2heparanase 2 (inactive) | Soms (5–29%) | In 1 aandoening |
| HRASHRas proto-oncogene, GTPase | Soms (5–29%) | In 1 aandoening |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | Soms (5–29%) | In 1 aandoening |
| IFNGinterferon gamma | Soms (5–29%) | In 1 aandoening |
| IFNGR1interferon gamma receptor 1 | Soms (5–29%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Soms (5–29%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Soms (5–29%) | In 1 aandoening |
| IFT80intraflagellar transport 80 | Soms (5–29%) | In 1 aandoening |
| IKZF1IKAROS family zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| IL10interleukin 10 | Soms (5–29%) | In 1 aandoening |
| IL12Ainterleukin 12A | Soms (5–29%) | In 1 aandoening |
| IL12A-AS1IL12A antisense RNA 1 | Soms (5–29%) | In 1 aandoening |
| IL23Rinterleukin 23 receptor | Soms (5–29%) | In 1 aandoening |
| IL36RNinterleukin 36 receptor antagonist | Soms (5–29%) | In 1 aandoening |
| INPP5Einositol polyphosphate-5-phosphatase E | Soms (5–29%) | In 1 aandoening |
| IRF5interferon regulatory factor 5 | Soms (5–29%) | In 1 aandoening |
| JAK2Janus kinase 2 | Soms (5–29%) | In 1 aandoening |
| KARS1lysyl-tRNA synthetase 1 | Soms (5–29%) | In 1 aandoening |
| KIAA0586KIAA0586 | Soms (5–29%) | In 1 aandoening |
| KIAA0753KIAA0753 | Soms (5–29%) | In 1 aandoening |
| KIF1Bkinesin family member 1B | Soms (5–29%) | In 1 aandoening |
| KLRC4killer cell lectin like receptor C4 | Soms (5–29%) | In 1 aandoening |
| LHX1LIM homeobox 1 | Soms (5–29%) | In 1 aandoening |
| LRIG2leucine rich repeats and immunoglobulin like domains 2 | Soms (5–29%) | In 2 aandoeningen |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MAU2MAU2 sister chromatid cohesion factor | Soms (5–29%) | In 1 aandoening |
| MAXMYC associated transcriptional regulator X | Soms (5–29%) | In 1 aandoening |
| MDH2malate dehydrogenase 2 | Soms (5–29%) | In 1 aandoening |
| MED12mediator complex subunit 12 | Soms (5–29%) | In 1 aandoening |
| MEN1menin 1 | Soms (5–29%) | In 1 aandoening |
| MMACHCmetabolism of cobalamin associated C | Soms (5–29%) | In 2 aandoeningen |
| MMP1matrix metallopeptidase 1 | Soms (5–29%) | In 1 aandoening |
| MMUTmethylmalonyl-CoA mutase | Soms (5–29%) | In 2 aandoeningen |
| MOCOSmolybdenum cofactor sulfurase | Soms (5–29%) | In 1 aandoening |
| MST1macrophage stimulating 1 | Soms (5–29%) | In 1 aandoening |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Soms (5–29%) | In 1 aandoening |
| MYD88MYD88 innate immune signal transduction adaptor | Soms (5–29%) | In 1 aandoening |
| NF1neurofibromin 1 | Soms (5–29%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Soms (5–29%) | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Soms (5–29%) | In 1 aandoening |
| OCLNoccludin | Soms (5–29%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Soms (5–29%) | In 1 aandoening |
| P4HA2prolyl 4-hydroxylase subunit alpha 2 | Soms (5–29%) | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Soms (5–29%) | In 1 aandoening |
| PAX6paired box 6 | Soms (5–29%) | In 1 aandoening |
| PEX7peroxisomal biogenesis factor 7 | Soms (5–29%) | In 1 aandoening |
| PGK1phosphoglycerate kinase 1 | Soms (5–29%) | In 2 aandoeningen |
| PHYHphytanoyl-CoA 2-hydroxylase | Soms (5–29%) | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Soms (5–29%) | In 1 aandoening |
| PRTN3proteinase 3 | Soms (5–29%) | In 1 aandoening |
| PTPN22protein tyrosine phosphatase non-receptor type 22 | Soms (5–29%) | In 2 aandoeningen |
| RAD21RAD21 cohesin complex component | Soms (5–29%) | In 1 aandoening |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| RETret proto-oncogene | Soms (5–29%) | In 2 aandoeningen |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| RNU7-1RNA, U7 small nuclear 1 | Soms (5–29%) | In 1 aandoening |
| SAA1serum amyloid A1 | Soms (5–29%) | In 1 aandoening |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Soms (5–29%) | In 1 aandoening |
| SDHAF2succinate dehydrogenase complex assembly factor 2 | Soms (5–29%) | In 1 aandoening |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Soms (5–29%) | In 2 aandoeningen |
| SDHCsuccinate dehydrogenase complex subunit C | Soms (5–29%) | In 1 aandoening |
| SDHDsuccinate dehydrogenase complex subunit D | Soms (5–29%) | In 2 aandoeningen |
| SEMA4Dsemaphorin 4D | Soms (5–29%) | In 1 aandoening |
| SIX1SIX homeobox 1 | Soms (5–29%) | In 1 aandoening |
| SIX5SIX homeobox 5 | Soms (5–29%) | In 2 aandoeningen |
| SLC25A11solute carrier family 25 member 11 | Soms (5–29%) | In 1 aandoening |
| SLC5A1solute carrier family 5 member 1 | Soms (5–29%) | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Soms (5–29%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Soms (5–29%) | In 1 aandoening |
| STSsteroid sulfatase | Soms (5–29%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| TBX18T-box transcription factor 18 | Soms (5–29%) | In 1 aandoening |
| TCF4transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| TLR4toll like receptor 4 | Soms (5–29%) | In 1 aandoening |
| TMEM127transmembrane protein 127 | Soms (5–29%) | In 1 aandoening |
| TMEM138transmembrane protein 138 | Soms (5–29%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Soms (5–29%) | In 2 aandoeningen |
| TMEM231transmembrane protein 231 | Soms (5–29%) | In 1 aandoening |
| TMEM237transmembrane protein 237 | Soms (5–29%) | In 2 aandoeningen |
| TSC1TSC complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| TSC2TSC complex subunit 2 | Soms (5–29%) | In 1 aandoening |
| TTC21Btetratricopeptide repeat domain 21B | Soms (5–29%) | In 1 aandoening |
| UBAC2UBA domain containing 2 | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| VANGL1VANGL planar cell polarity protein 1 | Soms (5–29%) | In 1 aandoening |
| VHLvon Hippel-Lindau tumor suppressor | Soms (5–29%) | In 2 aandoeningen |
| WDR19WD repeat domain 19 | Soms (5–29%) | In 1 aandoening |
| XIAPX-linked inhibitor of apoptosis | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| ZNF423zinc finger protein 423 | Soms (5–29%) | In 1 aandoening |
| ZNFX1zinc finger NFX1-type containing 1 | Soms (5–29%) | In 1 aandoening |
| ACBD6acyl-CoA binding domain containing 6 | Zelden (1–4%) | In 1 aandoening |
| CASP10caspase 10 | Zelden (1–4%) | In 1 aandoening |
| FASLGFas ligand | Zelden (1–4%) | In 1 aandoening |
| PBX1PBX homeobox 1 | Zelden (1–4%) | In 1 aandoening |
| ALMS1ALMS1 centrosome and basal body associated protein | Niet vastgelegd | In 1 aandoening |
| APOEapolipoprotein E | Niet vastgelegd | In 1 aandoening |
| BBS10Bardet-Biedl syndrome 10 | Niet vastgelegd | In 1 aandoening |
| BSNDbarttin CLCNK type accessory subunit beta | Niet vastgelegd | In 1 aandoening |
| C3complement C3 | Niet vastgelegd | In 1 aandoening |
| CD2APCD2 associated protein | Niet vastgelegd | In 1 aandoening |
| CFIcomplement factor I | Niet vastgelegd | In 1 aandoening |
| CLCN5Cl-/H+ antiporter 5 | Niet vastgelegd | In 4 aandoeningen |
| CLCNKAchloride voltage-gated channel Ka | Niet vastgelegd | In 1 aandoening |
| CLCNKBchloride voltage-gated channel Kb | Niet vastgelegd | In 1 aandoening |
| CLDN10claudin 10 | Niet vastgelegd | In 1 aandoening |
| CRB2crumbs cell polarity complex component 2 | Niet vastgelegd | In 1 aandoening |
| FAHfumarylacetoacetate hydrolase | Niet vastgelegd | In 1 aandoening |
| GATMglycine amidinotransferase | Niet vastgelegd | In 1 aandoening |
| GSNgelsolin | Niet vastgelegd | In 1 aandoening |
| HBBhemoglobin subunit beta | Niet vastgelegd | In 1 aandoening |
| HOXA13homeobox A13 | Niet vastgelegd | In 1 aandoening |
| HPS1HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 | Niet vastgelegd | In 1 aandoening |
| ITGA3integrin subunit alpha 3 | Niet vastgelegd | In 1 aandoening |
| LCATlecithin-cholesterol acyltransferase | Niet vastgelegd | In 1 aandoening |
| LDHAlactate dehydrogenase A | Niet vastgelegd | In 1 aandoening |
| MLXIPLMLX interacting protein like | Niet vastgelegd | In 1 aandoening |
| NLRP3NLR family pyrin domain containing 3 | Niet vastgelegd | In 1 aandoening |
| NOTCH2notch receptor 2 | Niet vastgelegd | In 1 aandoening |
| NPHS1NPHS1 adhesion molecule, nephrin | Niet vastgelegd | In 1 aandoening |
| PGAM2phosphoglycerate mutase 2 | Niet vastgelegd | In 1 aandoening |
| PRDX1peroxiredoxin 1 | Niet vastgelegd | In 1 aandoening |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Niet vastgelegd | In 1 aandoening |
| SLC37A4solute carrier family 37 member 4 | Niet vastgelegd | In 1 aandoening |
| SLC3A1solute carrier family 3 member 1 | Niet vastgelegd | In 1 aandoening |
| SLC7A9solute carrier family 7 member 9 | Niet vastgelegd | In 1 aandoening |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Niet vastgelegd | In 1 aandoening |
| SOX18SRY-box transcription factor 18 | Niet vastgelegd | In 1 aandoening |
| TMEM260transmembrane protein 260 | Niet vastgelegd | In 1 aandoening |
| WDR35WD repeat domain 35 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
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Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.16-c6eea6bf.
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