Egenskap
Breathing difficulty
Klinisk navn: Dyspnea
Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.
Sammendrag
- Også kalt
- Difficult to breathe, Difficulty breathing, Panting, Shortness of breath, Trouble breathing, Abnormal breathing, Dyspnoea
- Kroppssystem
- Abnormality of the respiratory system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test236 gener knyttet til Breathing difficulty
Endringer i disse genene forårsaker sjeldne tilstander der Breathing difficulty 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 |
|---|---|---|
| APOA1apolipoprotein A1 | Alltid | I 1 tilstand |
| CAPNS1calpain small subunit 1 | Alltid | I 1 tilstand |
| CSF2RBcolony stimulating factor 2 receptor subunit beta | Alltid | I 1 tilstand |
| DNAJB4DnaJ heat shock protein family (Hsp40) member B4 | Alltid | I 1 tilstand |
| DSG2desmoglein 2 | Alltid | I 1 tilstand |
| EIF2AK4eukaryotic translation initiation factor 2 alpha kinase 4 | Alltid | I 2 tilstander |
| EMDemerin | Alltid | I 1 tilstand |
| ENGendoglin | Alltid | I 1 tilstand |
| FDX2ferredoxin 2 | Alltid | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Alltid | I 1 tilstand |
| GAAalpha glucosidase | Alltid | I 1 tilstand |
| JPH2junctophilin 2 | Alltid | I 1 tilstand |
| LDB3LIM domain binding 3 | Alltid | I 1 tilstand |
| MYZAPmyocardial zonula adherens protein | Alltid | I 1 tilstand |
| OPA1OPA1 mitochondrial dynamin like GTPase | Alltid | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Alltid | I 1 tilstand |
| POT1protection of telomeres 1 | Alltid | I 1 tilstand |
| PRKAR1Aprotein kinase cAMP-dependent type I regulatory subunit alpha | Alltid | I 1 tilstand |
| SCN4Asodium voltage-gated channel alpha subunit 4 | Alltid | I 2 tilstander |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 1 tilstand |
| SFTPA1surfactant protein A1 | Alltid | I 1 tilstand |
| SLC25A4solute carrier family 25 member 4 | Alltid | I 1 tilstand |
| SPINK5serine peptidase inhibitor Kazal type 5 | Alltid | I 1 tilstand |
| TERTtelomerase reverse transcriptase | Alltid | I 3 tilstander |
| CAV1caveolin 1 | Svært ofte (80–99 %) | I 2 tilstander |
| CCN2cellular communication network factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CCR6C-C motif chemokine receptor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| EPORerythropoietin receptor | Svært ofte (80–99 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Svært ofte (80–99 %) | I 4 tilstander |
| IRF5interferon regulatory factor 5 | Svært ofte (80–99 %) | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| RNU4ATACRNA, U4atac small nuclear | Svært ofte (80–99 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Svært ofte (80–99 %) | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Svært ofte (80–99 %) | I 1 tilstand |
| ABCC9ATP binding cassette subfamily C member 9 | Ofte (30–79 %) | I 1 tilstand |
| ABCG5ATP binding cassette subfamily G member 5 | Ofte (30–79 %) | I 1 tilstand |
| ABCG8ATP binding cassette subfamily G member 8 | Ofte (30–79 %) | I 1 tilstand |
| ANGangiogenin | Ofte (30–79 %) | I 1 tilstand |
| ANXA11annexin A11 | Ofte (30–79 %) | I 1 tilstand |
Vis 196 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| APOBapolipoprotein B | Ofte (30–79 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Ofte (30–79 %) | I 1 tilstand |
| ATXN2ataxin 2 | Ofte (30–79 %) | I 1 tilstand |
| BANF1barrier to autointegration nuclear assembly factor 1 | Ofte (30–79 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Ofte (30–79 %) | I 1 tilstand |
| BMPR2bone morphogenetic protein receptor type 2 | Ofte (30–79 %) | I 1 tilstand |
| BTNL2butyrophilin like 2 | Ofte (30–79 %) | I 2 tilstander |
| CCNFcyclin F | Ofte (30–79 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Ofte (30–79 %) | I 1 tilstand |
| CDC6cell division cycle 6 | Ofte (30–79 %) | I 1 tilstand |
| CDT1chromatin licensing and DNA replication factor 1 | Ofte (30–79 %) | I 1 tilstand |
| CFAP410cilia and flagella associated protein 410 | Ofte (30–79 %) | I 1 tilstand |
| CFTRCF transmembrane conductance regulator | Ofte (30–79 %) | I 1 tilstand |
| CHCHD10coiled-coil-helix-coiled-coil-helix domain containing 10 | Ofte (30–79 %) | I 1 tilstand |
| CHMP2Bcharged multivesicular body protein 2B | Ofte (30–79 %) | I 1 tilstand |
| DAOD-amino acid oxidase | Ofte (30–79 %) | I 1 tilstand |
| DCTN1dynactin subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| DNASE1L3deoxyribonuclease 1L3 | Ofte (30–79 %) | I 1 tilstand |
| ELNelastin | Ofte (30–79 %) | I 2 tilstander |
| ERBB4erb-b2 receptor tyrosine kinase 4 | Ofte (30–79 %) | I 1 tilstand |
| FAM20CFAM20C golgi associated secretory pathway kinase | Ofte (30–79 %) | I 1 tilstand |
| FIG4FIG4 phosphoinositide 5-phosphatase | Ofte (30–79 %) | I 1 tilstand |
| FUSFUS RNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 2 tilstander |
| GATA5GATA binding protein 5 | Ofte (30–79 %) | I 1 tilstand |
| GATA6GATA binding protein 6 | Ofte (30–79 %) | I 2 tilstander |
| GBA1glucosylceramidase beta 1 | Ofte (30–79 %) | I 2 tilstander |
| GJA5gap junction protein alpha 5 | Ofte (30–79 %) | I 1 tilstand |
| GLE1GLE1 RNA export mediator | Ofte (30–79 %) | I 1 tilstand |
| GLT8D1glycosyltransferase 8 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| GMNNgeminin DNA replication inhibitor | Ofte (30–79 %) | I 1 tilstand |
| HBBhemoglobin subunit beta | Ofte (30–79 %) | I 2 tilstander |
| HLA-DPB1major histocompatibility complex, class II, DP beta 1 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPA1heterogeneous nuclear ribonucleoprotein A1 | Ofte (30–79 %) | I 1 tilstand |
| KCNA5potassium voltage-gated channel subfamily A member 5 | Ofte (30–79 %) | I 1 tilstand |
| KCNE1potassium voltage-gated channel subfamily E regulatory subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNE2potassium voltage-gated channel subfamily E regulatory subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ3potassium inwardly rectifying channel subfamily J member 3 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Ofte (30–79 %) | I 1 tilstand |
| KCNJ6potassium inwardly rectifying channel subfamily J member 6 | Ofte (30–79 %) | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ofte (30–79 %) | I 1 tilstand |
| KLHL24kelch like family member 24 | Ofte (30–79 %) | I 1 tilstand |
| LAMA3laminin subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| LAMB3laminin subunit beta 3 | Ofte (30–79 %) | I 1 tilstand |
| LAMC2laminin subunit gamma 2 | Ofte (30–79 %) | I 1 tilstand |
| LAMP2lysosome associated membrane protein 2 | Ofte (30–79 %) | I 1 tilstand |
| LDLRlow density lipoprotein receptor | Ofte (30–79 %) | I 1 tilstand |
| LDLRAP1low density lipoprotein receptor adaptor protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LRP12LDL receptor related protein 12 | Ofte (30–79 %) | I 1 tilstand |
| MATR3matrin 3 | Ofte (30–79 %) | I 1 tilstand |
| MGME1mitochondrial genome maintenance exonuclease 1 | Ofte (30–79 %) | I 2 tilstander |
| MT-TKmitochondrially encoded tRNA-Lys (AAA/G) | Ofte (30–79 %) | I 2 tilstander |
| MYL4myosin light chain 4 | Ofte (30–79 %) | I 1 tilstand |
| NEFHneurofilament heavy chain | Ofte (30–79 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 3 tilstander |
| NKX2-6NK2 homeobox 6 | Ofte (30–79 %) | I 1 tilstand |
| NPPAnatriuretic peptide A | Ofte (30–79 %) | I 3 tilstander |
| NUP155nucleoporin 155 | Ofte (30–79 %) | I 1 tilstand |
| OPTNoptineurin | Ofte (30–79 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Ofte (30–79 %) | I 2 tilstander |
| PCSK9proprotein convertase subtilisin/kexin type 9 | Ofte (30–79 %) | I 1 tilstand |
| PFN1profilin 1 | Ofte (30–79 %) | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Ofte (30–79 %) | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Ofte (30–79 %) | I 1 tilstand |
| PITX2paired like homeodomain 2 | Ofte (30–79 %) | I 1 tilstand |
| PNPLA2patatin like domain 2, triacylglycerol lipase | Ofte (30–79 %) | I 1 tilstand |
| PRPHperipherin | Ofte (30–79 %) | I 1 tilstand |
| RFC4replication factor C subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| SCN2Bsodium voltage-gated channel beta subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| SCN3Bsodium voltage-gated channel beta subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| SCN4Bsodium voltage-gated channel beta subunit 4 | Ofte (30–79 %) | I 1 tilstand |
| SCN5Asodium voltage-gated channel alpha subunit 5 | Ofte (30–79 %) | I 4 tilstander |
| SCNN1Asodium channel epithelial 1 subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| SCNN1Bsodium channel epithelial 1 subunit beta | Ofte (30–79 %) | I 1 tilstand |
| SCNN1Gsodium channel epithelial 1 subunit gamma | Ofte (30–79 %) | I 1 tilstand |
| SERPING1serpin family G member 1 | Ofte (30–79 %) | I 1 tilstand |
| SFTPCsurfactant protein C | Ofte (30–79 %) | I 2 tilstander |
| SLC34A2solute carrier family 34 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Ofte (30–79 %) | I 1 tilstand |
| SOD1superoxide dismutase 1 | Ofte (30–79 %) | I 1 tilstand |
| SQSTM1sequestosome 1 | Ofte (30–79 %) | I 1 tilstand |
| TAF15TATA-box binding protein associated factor 15 | Ofte (30–79 %) | I 1 tilstand |
| TARDBPTAR DNA binding protein | Ofte (30–79 %) | I 1 tilstand |
| TBK1TANK binding kinase 1 | Ofte (30–79 %) | I 1 tilstand |
| TMEM126Btransmembrane protein 126B | Ofte (30–79 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Ofte (30–79 %) | I 1 tilstand |
| TRMT5tRNA methyltransferase 5 | Ofte (30–79 %) | I 1 tilstand |
| TRPM4transient receptor potential cation channel subfamily M member 4 | Ofte (30–79 %) | I 1 tilstand |
| TSFMTs translation elongation factor, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| TTNtitin | Ofte (30–79 %) | I 2 tilstander |
| UBQLN2ubiquilin 2 | Ofte (30–79 %) | I 1 tilstand |
| UNC13Aunc-13 homolog A | Ofte (30–79 %) | I 1 tilstand |
| VAPBVAMP associated protein B and C | Ofte (30–79 %) | I 1 tilstand |
| VCPvalosin containing protein | Ofte (30–79 %) | I 2 tilstander |
| WASWASP actin nucleation promoting factor | Ofte (30–79 %) | I 1 tilstand |
| ACTC1actin alpha cardiac muscle 1 | Noen ganger (5–29 %) | I 2 tilstander |
| AGR2anterior gradient 2, protein disulphide isomerase family member | Noen ganger (5–29 %) | I 1 tilstand |
| ALAS25'-aminolevulinate synthase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| CITED2Cbp/p300 interacting transactivator with ED-rich tail 2 | Noen ganger (5–29 %) | I 2 tilstander |
| COL1A2collagen type I alpha 2 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL4A5collagen type IV alpha 5 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COL4A6collagen type IV alpha 6 chain | Noen ganger (5–29 %) | I 1 tilstand |
| COPAcoat protein complex I subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| COX7Bcytochrome c oxidase subunit 7B | Noen ganger (5–29 %) | I 1 tilstand |
| DBHdopamine beta-hydroxylase | Noen ganger (5–29 %) | I 1 tilstand |
| DNA2DNA replication helicase/nuclease 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJB6DnaJ heat shock protein family (Hsp40) member B6 | Noen ganger (5–29 %) | I 1 tilstand |
| DSC2desmocollin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FBP1fructose-bisphosphatase 1 | Noen ganger (5–29 %) | I 2 tilstander |
| FLNCfilamin C | Noen ganger (5–29 %) | I 1 tilstand |
| GLAgalactosidase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| GNASGNAS complex locus | Noen ganger (5–29 %) | I 3 tilstander |
| HCCSholocytochrome c synthase | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Noen ganger (5–29 %) | I 2 tilstander |
| IKZF1IKAROS family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL12Binterleukin 12B | Noen ganger (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Noen ganger (5–29 %) | I 1 tilstand |
| IRAK1interleukin 1 receptor associated kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF20Akinesin family member 20A | Noen ganger (5–29 %) | I 1 tilstand |
| KITKIT proto-oncogene, receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| LRP5LDL receptor related protein 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MLXMAX dimerization protein MLX | Noen ganger (5–29 %) | I 1 tilstand |
| MRPL3mitochondrial ribosomal protein L3 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND1mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND2mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND3mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND4mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND5mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-ND6mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TL1mitochondrially encoded tRNA-Leu (UUA/G) 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TVmitochondrially encoded tRNA-Val (GUN) | Noen ganger (5–29 %) | I 1 tilstand |
| MT-TWmitochondrially encoded tRNA-Trp (UGA/G) | Noen ganger (5–29 %) | I 1 tilstand |
| MYH6myosin heavy chain 6 | Noen ganger (5–29 %) | I 1 tilstand |
| MYH7myosin heavy chain 7 | Noen ganger (5–29 %) | I 1 tilstand |
| MYL2myosin light chain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYOZ2myozenin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MYPNmyopalladin | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Noen ganger (5–29 %) | I 1 tilstand |
| NOD2nucleotide binding oligomerization domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PKP2plakophilin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PNKDPNKD metallo-beta-lactamase domain containing | Noen ganger (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PRKCSHPRKCSH beta subunit of glucosidase II | Noen ganger (5–29 %) | I 2 tilstander |
| PRRT2proline rich transmembrane protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SAT1spermidine/spermine N1-acetyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC63SEC63 protein translocation regulator | Noen ganger (5–29 %) | I 1 tilstand |
| SERPINA1serpin family A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A10solute carrier family 2 member 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC5structural maintenance of chromosomes 5 | Noen ganger (5–29 %) | I 1 tilstand |
| SPP1secreted phosphoprotein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Noen ganger (5–29 %) | I 1 tilstand |
| STX16syntaxin 16 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX20T-box transcription factor 20 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX4T-box transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TERCtelomerase RNA component | Noen ganger (5–29 %) | I 2 tilstander |
| TET2tet methylcytosine dioxygenase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TFGtrafficking from ER to golgi regulator | Noen ganger (5–29 %) | I 1 tilstand |
| TINF2TERF1 interacting nuclear factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TLL1tolloid like 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TNNC1troponin C1, slow skeletal and cardiac type | Noen ganger (5–29 %) | I 1 tilstand |
| TNNI3troponin I3, cardiac type | Noen ganger (5–29 %) | I 1 tilstand |
| TNNT2troponin T2, cardiac type | Noen ganger (5–29 %) | I 2 tilstander |
| TRIM63tripartite motif containing 63 | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Sjelden (1–4%) | I 1 tilstand |
| CTR9CTR9 component of Paf1/RNA polymerase II complex | Sjelden (1–4%) | I 1 tilstand |
| DIS3L2DIS3 like 3'-5' exoribonuclease 2 | Sjelden (1–4%) | I 1 tilstand |
| FLNAfilamin A | Sjelden (1–4%) | I 1 tilstand |
| GPC3glypican 3 | Sjelden (1–4%) | I 1 tilstand |
| H19H19 imprinted maternally expressed transcript | Sjelden (1–4%) | I 1 tilstand |
| POU6F2POU class 6 homeobox 2 | Sjelden (1–4%) | I 1 tilstand |
| RESTRE1 silencing transcription factor | Sjelden (1–4%) | I 1 tilstand |
| TRIM28tripartite motif containing 28 | Sjelden (1–4%) | I 1 tilstand |
| TRIP13thyroid hormone receptor interactor 13 | Sjelden (1–4%) | I 1 tilstand |
| WT1WT1 transcription factor | Sjelden (1–4%) | I 1 tilstand |
| ABCA3ATP binding cassette subfamily A member 3 | Ikke registrert | I 1 tilstand |
| ACVRL1activin A receptor like type 1 | Ikke registrert | I 1 tilstand |
| ARXaristaless related homeobox | Ikke registrert | I 1 tilstand |
| CASRcalcium sensing receptor | Ikke registrert | I 1 tilstand |
| CRLF1cytokine receptor like factor 1 | Ikke registrert | I 1 tilstand |
| CSPP1centrosome and spindle pole associated protein 1 | Ikke registrert | I 1 tilstand |
| ISCUiron-sulfur cluster assembly enzyme | Ikke registrert | I 1 tilstand |
| LTBP3latent transforming growth factor beta binding protein 3 | Ikke registrert | I 1 tilstand |
| MUC5Bmucin 5B, oligomeric mucus/gel-forming | Ikke registrert | I 1 tilstand |
| MYBPC3myosin binding protein C3 | Ikke registrert | I 1 tilstand |
| SFTPA2surfactant protein A2 | Ikke registrert | I 1 tilstand |
| SFTPBsurfactant protein B | Ikke registrert | I 1 tilstand |
| SLC25A1solute carrier family 25 member 1 | Ikke registrert | I 1 tilstand |
| SLC52A3solute carrier family 52 member 3 | Ikke registrert | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 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.
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Fra 449 $Gratis frakt · Resultater på 6–8 uker