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Kenmerk
Breathing difficulty
Klinische naam: Dyspnea
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Samenvatting
- Ook bekend als
- Difficult to breathe, Difficulty breathing, Panting, Shortness of breath, Trouble breathing, Abnormal breathing, Dyspnoea
- Lichaamssysteem
- Abnormality of the respiratory system
Voor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagAan de slagvanaf $ 449
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/dyspnea.json"
page <- fromJSON(url)
page$trait$nameBreathing difficultyHP:0002094
Voor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagAan de slagvanaf $ 449
Lees de genen die aan Breathing difficulty gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen236 genen gekoppeld aan Breathing difficulty
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Breathing difficulty 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 |
|---|---|---|
| APOA1apolipoprotein A1 | Altijd | In 1 aandoening |
| CAPNS1calpain small subunit 1 | Altijd | In 1 aandoening |
| CSF2RBcolony stimulating factor 2 receptor subunit beta | Altijd | In 1 aandoening |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Altijd | In 1 aandoening |
| DSG2desmoglein 2 | Altijd | In 1 aandoening |
| EIF2AK4eukaryotic translation initiation factor 2 alpha kinase 4 | Altijd | In 2 aandoeningen |
| EMDemerin | Altijd | In 1 aandoening |
| ENGendoglin | Altijd | In 1 aandoening |
| FDX2ferredoxin 2 | Altijd | In 1 aandoening |
| FZR1fizzy and cell division cycle 20 related 1 | Altijd | In 1 aandoening |
| GAAalpha glucosidase | Altijd | In 1 aandoening |
| JPH2junctophilin 2 | Altijd | In 1 aandoening |
| LDB3LIM domain binding 3 | Altijd | In 1 aandoening |
| MYZAPmyocardial zonula adherens protein | Altijd | In 1 aandoening |
| OPA1OPA1 mitochondrial dynamin like GTPase | Altijd | In 1 aandoening |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Altijd | In 1 aandoening |
| POT1protection of telomeres 1 | Altijd | In 1 aandoening |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Altijd | In 1 aandoening |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Altijd | In 2 aandoeningen |
| SCO2synthesis of cytochrome C oxidase 2 | Altijd | In 1 aandoening |
| SFTPA1surfactant protein A1 | Altijd | In 1 aandoening |
| SLC25A4solute carrier family 25 member 4 | Altijd | In 1 aandoening |
| SPINK5serine peptidase inhibitor Kazal type 5 | Altijd | In 1 aandoening |
| TERTtelomerase reverse transcriptase | Altijd | In 3 aandoeningen |
| CAV1caveolin 1 | Heel vaak (80–99%) | In 2 aandoeningen |
| CCN2cellular communication network factor 2 | Heel vaak (80–99%) | In 1 aandoening |
| CCR6C-C motif chemokine receptor 6 | Heel vaak (80–99%) | In 1 aandoening |
| EPORerythropoietin receptor | Heel vaak (80–99%) | In 1 aandoening |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Heel vaak (80–99%) | In 4 aandoeningen |
| IRF5interferon regulatory factor 5 | Heel vaak (80–99%) | In 1 aandoening |
| MARS1methionyl-tRNA synthetase 1 | Heel vaak (80–99%) | In 1 aandoening |
| RNU4ATACRNA, U4atac small nuclear | Heel vaak (80–99%) | In 1 aandoening |
| TSC1TSC complex subunit 1 | Heel vaak (80–99%) | In 1 aandoening |
| TSC2TSC complex subunit 2 | Heel vaak (80–99%) | In 1 aandoening |
| UBE3Bubiquitin protein ligase E3B | Heel vaak (80–99%) | In 1 aandoening |
| ABCC9ATP binding cassette subfamily C member 9 | Vaak (30–79%) | In 1 aandoening |
| ABCG5ATP binding cassette subfamily G member 5 | Vaak (30–79%) | In 1 aandoening |
| ABCG8ATP binding cassette subfamily G member 8 | Vaak (30–79%) | In 1 aandoening |
| ANGangiogenin | Vaak (30–79%) | In 1 aandoening |
| ANXA11annexin A11 | Vaak (30–79%) | In 1 aandoening |
Toon nog 196 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| APOBapolipoprotein B | Vaak (30–79%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Vaak (30–79%) | In 1 aandoening |
| ATXN2ataxin 2 | Vaak (30–79%) | In 1 aandoening |
| BANF1barrier to autointegration nuclear assembly factor 1 | Vaak (30–79%) | In 1 aandoening |
| BAP1BRCA1 associated deubiquitinase 1 | Vaak (30–79%) | In 1 aandoening |
| BMPR2bone morphogenetic protein receptor type 2 | Vaak (30–79%) | In 1 aandoening |
| BTNL2butyrophilin like 2 | Vaak (30–79%) | In 2 aandoeningen |
| CCNFcyclin F | Vaak (30–79%) | In 1 aandoening |
| CDC45cell division cycle 45 | Vaak (30–79%) | In 1 aandoening |
| CDC6cell division cycle 6 | Vaak (30–79%) | In 1 aandoening |
| CDT1chromatin licensing and DNA replication factor 1 | Vaak (30–79%) | In 1 aandoening |
| CFAP410cilia and flagella associated protein 410 | Vaak (30–79%) | In 1 aandoening |
| CFTRCF transmembrane conductance regulator | Vaak (30–79%) | In 1 aandoening |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Vaak (30–79%) | In 1 aandoening |
| CHMP2Bcharged multivesicular body protein 2B | Vaak (30–79%) | In 1 aandoening |
| DAOD-amino acid oxidase | Vaak (30–79%) | In 1 aandoening |
| DCTN1dynactin subunit 1 | Vaak (30–79%) | In 1 aandoening |
| DNASE1L3deoxyribonuclease 1L3 | Vaak (30–79%) | In 1 aandoening |
| ELNelastin | Vaak (30–79%) | In 2 aandoeningen |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Vaak (30–79%) | In 1 aandoening |
| FAM20CFAM20C golgi associated secretory pathway kinase | Vaak (30–79%) | In 1 aandoening |
| FIG4FIG4 phosphoinositide 5-phosphatase | Vaak (30–79%) | In 1 aandoening |
| FUSFUS RNA binding protein | Vaak (30–79%) | In 1 aandoening |
| GATA4GATA binding protein 4 | Vaak (30–79%) | In 2 aandoeningen |
| GATA5GATA binding protein 5 | Vaak (30–79%) | In 1 aandoening |
| GATA6GATA binding protein 6 | Vaak (30–79%) | In 2 aandoeningen |
| GBA1glucosylceramidase beta 1 | Vaak (30–79%) | In 2 aandoeningen |
| GJA5gap junction protein alpha 5 | Vaak (30–79%) | In 1 aandoening |
| GLE1GLE1 RNA export mediator | Vaak (30–79%) | In 1 aandoening |
| GLT8D1glycosyltransferase 8 domain containing 1 | Vaak (30–79%) | In 1 aandoening |
| GMNNgeminin DNA replication inhibitor | Vaak (30–79%) | In 1 aandoening |
| HBBhemoglobin subunit beta | Vaak (30–79%) | In 2 aandoeningen |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Vaak (30–79%) | In 1 aandoening |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Vaak (30–79%) | In 1 aandoening |
| KCNA5potassium voltage-gated channel subfamily A member 5 | Vaak (30–79%) | In 1 aandoening |
| KCNE1potassium voltage-gated channel subfamily E regulatory subunit 1 | Vaak (30–79%) | In 1 aandoening |
| KCNE2potassium voltage-gated channel subfamily E regulatory subunit 2 | Vaak (30–79%) | In 1 aandoening |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Vaak (30–79%) | In 1 aandoening |
| KCNJ3potassium inwardly rectifying channel subfamily J member 3 | Vaak (30–79%) | In 1 aandoening |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Vaak (30–79%) | In 1 aandoening |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Vaak (30–79%) | In 1 aandoening |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Vaak (30–79%) | In 1 aandoening |
| KLHL24kelch like family member 24 | Vaak (30–79%) | In 1 aandoening |
| LAMA3laminin subunit alpha 3 | Vaak (30–79%) | In 1 aandoening |
| LAMB3laminin subunit beta 3 | Vaak (30–79%) | In 1 aandoening |
| LAMC2laminin subunit gamma 2 | Vaak (30–79%) | In 1 aandoening |
| LAMP2lysosome associated membrane protein 2 | Vaak (30–79%) | In 1 aandoening |
| LDLRlow density lipoprotein receptor | Vaak (30–79%) | In 1 aandoening |
| LDLRAP1low density lipoprotein receptor adaptor protein 1 | Vaak (30–79%) | In 1 aandoening |
| LRP12LDL receptor related protein 12 | Vaak (30–79%) | In 1 aandoening |
| MATR3matrin 3 | Vaak (30–79%) | In 1 aandoening |
| MGME1mitochondrial genome maintenance exonuclease 1 | Vaak (30–79%) | In 2 aandoeningen |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Vaak (30–79%) | In 2 aandoeningen |
| MYL4myosin light chain 4 | Vaak (30–79%) | In 1 aandoening |
| NEFHneurofilament heavy chain | Vaak (30–79%) | In 1 aandoening |
| NEK1NIMA related kinase 1 | Vaak (30–79%) | In 1 aandoening |
| NKX2-5NK2 homeobox 5 | Vaak (30–79%) | In 3 aandoeningen |
| NKX2-6NK2 homeobox 6 | Vaak (30–79%) | In 1 aandoening |
| NPPAnatriuretic peptide A | Vaak (30–79%) | In 3 aandoeningen |
| NUP155nucleoporin 155 | Vaak (30–79%) | In 1 aandoening |
| OPTNoptineurin | Vaak (30–79%) | In 1 aandoening |
| ORC1origin recognition complex subunit 1 | Vaak (30–79%) | In 1 aandoening |
| ORC4origin recognition complex subunit 4 | Vaak (30–79%) | In 1 aandoening |
| ORC6origin recognition complex subunit 6 | Vaak (30–79%) | In 2 aandoeningen |
| PCSK9proprotein convertase subtilisin/kexin type 9 | Vaak (30–79%) | In 1 aandoening |
| PFN1profilin 1 | Vaak (30–79%) | In 1 aandoening |
| PGM1phosphoglucomutase 1 | Vaak (30–79%) | In 1 aandoening |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Vaak (30–79%) | In 1 aandoening |
| PITX2paired like homeodomain 2 | Vaak (30–79%) | In 1 aandoening |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Vaak (30–79%) | In 1 aandoening |
| PRPHperipherin | Vaak (30–79%) | In 1 aandoening |
| RFC4replication factor C subunit 4 | Vaak (30–79%) | In 1 aandoening |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Vaak (30–79%) | In 2 aandoeningen |
| SCN2Bsodium voltage-gated channel beta subunit 2 | Vaak (30–79%) | In 1 aandoening |
| SCN3Bsodium voltage-gated channel beta subunit 3 | Vaak (30–79%) | In 1 aandoening |
| SCN4Bsodium voltage-gated channel beta subunit 4 | Vaak (30–79%) | In 1 aandoening |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Vaak (30–79%) | In 4 aandoeningen |
| SCNN1Asodium channel epithelial 1 subunit alpha | Vaak (30–79%) | In 1 aandoening |
| SCNN1Bsodium channel epithelial 1 subunit beta | Vaak (30–79%) | In 1 aandoening |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Vaak (30–79%) | In 1 aandoening |
| SERPING1serpin family G member 1 | Vaak (30–79%) | In 1 aandoening |
| SFTPCsurfactant protein C | Vaak (30–79%) | In 2 aandoeningen |
| SLC34A2solute carrier family 34 member 2 | Vaak (30–79%) | In 1 aandoening |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Vaak (30–79%) | In 1 aandoening |
| SOD1superoxide dismutase 1 | Vaak (30–79%) | In 1 aandoening |
| SQSTM1sequestosome 1 | Vaak (30–79%) | In 1 aandoening |
| TAF15TATA-box binding protein associated factor 15 | Vaak (30–79%) | In 1 aandoening |
| TARDBPTAR DNA binding protein | Vaak (30–79%) | In 1 aandoening |
| TBK1TANK binding kinase 1 | Vaak (30–79%) | In 1 aandoening |
| TMEM126Btransmembrane protein 126B | Vaak (30–79%) | In 1 aandoening |
| TREM2triggering receptor expressed on myeloid cells 2 | Vaak (30–79%) | In 1 aandoening |
| TRMT5tRNA methyltransferase 5 | Vaak (30–79%) | In 1 aandoening |
| TRPM4transient receptor potential cation channel subfamily M member 4 | Vaak (30–79%) | In 1 aandoening |
| TSFMTs translation elongation factor, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| TTNtitin | Vaak (30–79%) | In 2 aandoeningen |
| UBQLN2ubiquilin 2 | Vaak (30–79%) | In 1 aandoening |
| UNC13Aunc-13 homolog A | Vaak (30–79%) | In 1 aandoening |
| VAPBVAMP associated protein B and C | Vaak (30–79%) | In 1 aandoening |
| VCPvalosin containing protein | Vaak (30–79%) | In 2 aandoeningen |
| WASWASP actin nucleation promoting factor | Vaak (30–79%) | In 1 aandoening |
| ACTC1actin alpha cardiac muscle 1 | Soms (5–29%) | In 2 aandoeningen |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Soms (5–29%) | In 1 aandoening |
| ALAS25'-aminolevulinate synthase 2 | Soms (5–29%) | In 1 aandoening |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Soms (5–29%) | In 1 aandoening |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Soms (5–29%) | In 2 aandoeningen |
| COL1A2collagen type I alpha 2 chain | Soms (5–29%) | In 1 aandoening |
| COL4A5collagen type IV alpha 5 chain | Soms (5–29%) | In 1 aandoening |
| COL4A6collagen type IV alpha 6 chain | Soms (5–29%) | In 1 aandoening |
| COPAcoat protein complex I subunit alpha | Soms (5–29%) | In 1 aandoening |
| COX7Bcytochrome c oxidase subunit 7B | Soms (5–29%) | In 1 aandoening |
| DBHdopamine beta-hydroxylase | Soms (5–29%) | In 1 aandoening |
| DNA2DNA replication helicase/nuclease 2 | Soms (5–29%) | In 1 aandoening |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Soms (5–29%) | In 1 aandoening |
| DSC2desmocollin 2 | Soms (5–29%) | In 1 aandoening |
| FBP1fructose-bisphosphatase 1 | Soms (5–29%) | In 2 aandoeningen |
| FLNCfilamin C | Soms (5–29%) | In 1 aandoening |
| GLAgalactosidase alpha | Soms (5–29%) | In 1 aandoening |
| GNASGNAS complex locus | Soms (5–29%) | In 3 aandoeningen |
| HCCSholocytochrome c synthase | Soms (5–29%) | In 1 aandoening |
| HLA-Bmajor histocompatibility complex, class I, B | Soms (5–29%) | In 2 aandoeningen |
| IKZF1IKAROS family zinc finger 1 | Soms (5–29%) | In 1 aandoening |
| IL12Binterleukin 12B | Soms (5–29%) | In 1 aandoening |
| IPO8importin 8 | Soms (5–29%) | In 1 aandoening |
| IRAK1interleukin 1 receptor associated kinase 1 | Soms (5–29%) | In 1 aandoening |
| KIF20Akinesin family member 20A | Soms (5–29%) | In 1 aandoening |
| KITKIT proto-oncogene, receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| LRP5LDL receptor related protein 5 | Soms (5–29%) | In 1 aandoening |
| MLXMAX dimerization protein MLX | Soms (5–29%) | In 1 aandoening |
| MRPL3mitochondrial ribosomal protein L3 | Soms (5–29%) | In 1 aandoening |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Soms (5–29%) | In 1 aandoening |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Soms (5–29%) | In 1 aandoening |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Soms (5–29%) | In 1 aandoening |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Soms (5–29%) | In 1 aandoening |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Soms (5–29%) | In 1 aandoening |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Soms (5–29%) | In 1 aandoening |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Soms (5–29%) | In 1 aandoening |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Soms (5–29%) | In 1 aandoening |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Soms (5–29%) | In 1 aandoening |
| MYH6myosin heavy chain 6 | Soms (5–29%) | In 1 aandoening |
| MYH7myosin heavy chain 7 | Soms (5–29%) | In 1 aandoening |
| MYL2myosin light chain 2 | Soms (5–29%) | In 1 aandoening |
| MYOZ2myozenin 2 | Soms (5–29%) | In 1 aandoening |
| MYPNmyopalladin | Soms (5–29%) | In 1 aandoening |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Soms (5–29%) | In 1 aandoening |
| NOD2nucleotide binding oligomerization domain containing 2 | Soms (5–29%) | In 1 aandoening |
| PKP2plakophilin 2 | Soms (5–29%) | In 1 aandoening |
| PNKDPNKD metallo-beta-lactamase domain containing | Soms (5–29%) | In 1 aandoening |
| POMT1protein O-mannosyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| PRKCSHPRKCSH beta subunit of glucosidase II | Soms (5–29%) | In 2 aandoeningen |
| PRRT2proline rich transmembrane protein 2 | Soms (5–29%) | In 1 aandoening |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Soms (5–29%) | In 1 aandoening |
| SEC63SEC63 protein translocation regulator | Soms (5–29%) | In 1 aandoening |
| SERPINA1serpin family A member 1 | Soms (5–29%) | In 1 aandoening |
| SLC2A10solute carrier family 2 member 10 | Soms (5–29%) | In 1 aandoening |
| SMC5structural maintenance of chromosomes 5 | Soms (5–29%) | In 1 aandoening |
| SPP1secreted phosphoprotein 1 | Soms (5–29%) | In 1 aandoening |
| STAT4signal transducer and activator of transcription 4 | Soms (5–29%) | In 1 aandoening |
| STX16syntaxin 16 | Soms (5–29%) | In 1 aandoening |
| TBX20T-box transcription factor 20 | Soms (5–29%) | In 1 aandoening |
| TBX4T-box transcription factor 4 | Soms (5–29%) | In 1 aandoening |
| TERCtelomerase RNA component | Soms (5–29%) | In 2 aandoeningen |
| TET2tet methylcytosine dioxygenase 2 | Soms (5–29%) | In 1 aandoening |
| TFGtrafficking from ER to golgi regulator | Soms (5–29%) | In 1 aandoening |
| TINF2TERF1 interacting nuclear factor 2 | Soms (5–29%) | In 1 aandoening |
| TLL1tolloid like 1 | Soms (5–29%) | In 2 aandoeningen |
| TNNC1troponin C1, slow skeletal and cardiac type | Soms (5–29%) | In 1 aandoening |
| TNNI3troponin I3, cardiac type | Soms (5–29%) | In 1 aandoening |
| TNNT2troponin T2, cardiac type | Soms (5–29%) | In 2 aandoeningen |
| TRIM63tripartite motif containing 63 | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Zelden (1–4%) | In 1 aandoening |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Zelden (1–4%) | In 1 aandoening |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Zelden (1–4%) | In 1 aandoening |
| FLNAfilamin A | Zelden (1–4%) | In 1 aandoening |
| GPC3glypican 3 | Zelden (1–4%) | In 1 aandoening |
| H19H19 imprinted maternally expressed transcript | Zelden (1–4%) | In 1 aandoening |
| POU6F2POU class 6 homeobox 2 | Zelden (1–4%) | In 1 aandoening |
| RESTRE1 silencing transcription factor | Zelden (1–4%) | In 1 aandoening |
| TRIM28tripartite motif containing 28 | Zelden (1–4%) | In 1 aandoening |
| TRIP13thyroid hormone receptor interactor 13 | Zelden (1–4%) | In 1 aandoening |
| WT1WT1 transcription factor | Zelden (1–4%) | In 1 aandoening |
| ABCA3ATP binding cassette subfamily A member 3 | Niet vastgelegd | In 1 aandoening |
| ACVRL1activin A receptor like type 1 | Niet vastgelegd | In 1 aandoening |
| ARXaristaless related homeobox | Niet vastgelegd | In 1 aandoening |
| CASRcalcium sensing receptor | Niet vastgelegd | In 1 aandoening |
| CRLF1cytokine receptor like factor 1 | Niet vastgelegd | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Niet vastgelegd | In 1 aandoening |
| ISCUiron-sulfur cluster assembly enzyme | Niet vastgelegd | In 1 aandoening |
| LTBP3latent transforming growth factor beta binding protein 3 | Niet vastgelegd | In 1 aandoening |
| MUC5Bmucin 5B, oligomeric mucus/gel-forming | Niet vastgelegd | In 1 aandoening |
| MYBPC3myosin binding protein C3 | Niet vastgelegd | In 1 aandoening |
| SFTPA2surfactant protein A2 | Niet vastgelegd | In 1 aandoening |
| SFTPBsurfactant protein B | Niet vastgelegd | In 1 aandoening |
| SLC25A1solute carrier family 25 member 1 | Niet vastgelegd | In 1 aandoening |
| SLC52A3solute carrier family 52 member 3 | Niet vastgelegd | In 1 aandoening |
| SMPD1sphingomyelin phosphodiesterase 1 | 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.
Smallere kenmerken
Bredere kenmerken
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.
Voor wie we er zijnOnze wetenschapProductenResultaten
InloggenVraagAan de slagvanaf $ 449
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Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken