Egenskap
Growth delay
A deficiency or slowing down of growth pre- and postnatally.
Sammendrag
- Også kalt
- Delayed growth, Growth deficiency, Growth failure, Poor growth, Very poor growth
- Kroppssystem
- Growth abnormality
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Endringer i disse genene forårsaker sjeldne tilstander der Growth delay 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 |
|---|---|---|
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Alltid | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Alltid | I 2 tilstander |
| BLMBLM RecQ like helicase | Alltid | I 2 tilstander |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Alltid | I 4 tilstander |
| CANT1calcium activated nucleotidase 1 | Alltid | I 1 tilstand |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Alltid | I 1 tilstand |
| CDK5RAP2CDK5 regulatory subunit associated protein 2 | Alltid | I 2 tilstander |
| CEP57centrosomal protein 57 | Alltid | I 2 tilstander |
| CHP1calcineurin like EF-hand protein 1 | Alltid | I 1 tilstand |
| CLCN7Cl-/H+ antiporter 7 | Alltid | I 3 tilstander |
| COL4A2collagen type IV alpha 2 chain | Alltid | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Alltid | I 2 tilstander |
| CTNNBL1catenin beta like 1 | Alltid | I 1 tilstand |
| CUL7cullin 7 | Alltid | I 1 tilstand |
| DIAPH1diaphanous related formin 1 | Alltid | I 1 tilstand |
| DNASE2deoxyribonuclease 2, lysosomal | Alltid | I 1 tilstand |
| DNM1Ldynamin 1L | Alltid | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Alltid | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Alltid | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Alltid | I 2 tilstander |
| EXOSC1exosome component 1 | Alltid | I 1 tilstand |
| EXOSC5exosome component 5 | Alltid | I 1 tilstand |
| FANCBFA complementation group B | Alltid | I 2 tilstander |
| FANCLFA complementation group L | Alltid | I 2 tilstander |
| FAR1fatty acyl-CoA reductase 1 | Alltid | I 2 tilstander |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Alltid | I 1 tilstand |
| FGFR1fibroblast growth factor receptor 1 | Alltid | I 4 tilstander |
| FIG4FIG4 phosphoinositide 5-phosphatase | Alltid | I 1 tilstand |
| FLNAfilamin A | Alltid | I 2 tilstander |
| GH1growth hormone 1 | Alltid | I 2 tilstander |
| GLYCTKglycerate kinase | Alltid | I 1 tilstand |
| H4C11H4 clustered histone 11 | Alltid | I 1 tilstand |
| H4C3H4 clustered histone 3 | Alltid | I 1 tilstand |
| HMOX1heme oxygenase 1 | Alltid | I 2 tilstander |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Alltid | I 2 tilstander |
| IDUAalpha-L-iduronidase | Alltid | I 2 tilstander |
| IL10RAinterleukin 10 receptor subunit alpha | Alltid | I 1 tilstand |
| IL21interleukin 21 | Alltid | I 1 tilstand |
| ITPR1inositol 1,4,5-trisphosphate receptor type 1 | Alltid | I 1 tilstand |
| KARS1lysyl-tRNA synthetase 1 | Alltid | I 2 tilstander |
Vis 576 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| KCNA4potassium voltage-gated channel subfamily A member 4 | Alltid | I 1 tilstand |
| KDM6Alysine demethylase 6A | Alltid | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Alltid | I 1 tilstand |
| KRT5keratin 5 | Alltid | I 3 tilstander |
| LEMD2LEM domain nuclear envelope protein 2 | Alltid | I 1 tilstand |
| LIASlipoic acid synthetase | Alltid | I 1 tilstand |
| LIG1DNA ligase 1 | Alltid | I 1 tilstand |
| LMNAlamin A/C | Alltid | I 2 tilstander |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| LTBP4latent transforming growth factor beta binding protein 4 | Alltid | I 1 tilstand |
| MALT1MALT1 paracaspase | Alltid | I 1 tilstand |
| MARS1methionyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| MIA3MIA SH3 domain ER export factor 3 | Alltid | I 1 tilstand |
| MPLKIPM-phase specific PLK1 interacting protein | Alltid | I 1 tilstand |
| NBNnibrin | Alltid | I 1 tilstand |
| NDE1nudE neurodevelopment protein 1 | Alltid | I 2 tilstander |
| NDUFA12NADH:ubiquinone oxidoreductase subunit A12 | Alltid | I 1 tilstand |
| NDUFA8NADH:ubiquinone oxidoreductase subunit A8 | Alltid | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Alltid | I 1 tilstand |
| OTULINOTU deubiquitinase with linear linkage specificity | Alltid | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Alltid | I 1 tilstand |
| PGM1phosphoglucomutase 1 | Alltid | I 1 tilstand |
| PHKG2phosphorylase kinase catalytic subunit gamma 2 | Alltid | I 2 tilstander |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Alltid | I 2 tilstander |
| POLR3BRNA polymerase III subunit B | Alltid | I 1 tilstand |
| POLR3GLRNA polymerase III subunit GL | Alltid | I 1 tilstand |
| POLR3KRNA polymerase III subunit K | Alltid | I 1 tilstand |
| PSKH1protein serine kinase H1 | Alltid | I 1 tilstand |
| PTCD3pentatricopeptide repeat domain 3 | Alltid | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Alltid | I 1 tilstand |
| RAD50RAD50 double strand break repair protein | Alltid | I 1 tilstand |
| RAD51RAD51 recombinase | Alltid | I 2 tilstander |
| RBBP8RB binding protein 8, endonuclease | Alltid | I 1 tilstand |
| RFWD3ring finger and WD repeat domain 3 | Alltid | I 2 tilstander |
| RNU6ATACRNA, U6atac small nuclear | Alltid | I 1 tilstand |
| SHMT2serine hydroxymethyltransferase 2 | Alltid | I 1 tilstand |
| SLC25A36solute carrier family 25 member 36 | Alltid | I 1 tilstand |
| SLC30A7solute carrier family 30 member 7 | Alltid | I 1 tilstand |
| SLC30A9solute carrier family 30 member 9 | Alltid | I 1 tilstand |
| SLC4A4solute carrier family 4 member 4 | Alltid | I 1 tilstand |
| SLX4SLX4 structure-specific endonuclease subunit | Alltid | I 2 tilstander |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Alltid | I 2 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Alltid | I 3 tilstander |
| SONSON DNA and RNA binding protein | Alltid | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Alltid | I 2 tilstander |
| STN1STN1 subunit of CST complex | Alltid | I 1 tilstand |
| TAFAZZINtafazzin, phospholipid-lysophospholipid transacylase | Alltid | I 1 tilstand |
| TGFB3transforming growth factor beta 3 | Alltid | I 1 tilstand |
| TMEM165transmembrane protein 165 | Alltid | I 1 tilstand |
| TOM1target of myb1 membrane trafficking protein | Alltid | I 1 tilstand |
| TOR1Atorsin family 1 member A | Alltid | I 1 tilstand |
| TP53tumor protein p53 | Alltid | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Alltid | I 1 tilstand |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Alltid | I 1 tilstand |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Alltid | I 1 tilstand |
| WNT4Wnt family member 4 | Alltid | I 1 tilstand |
| XRCC2X-ray repair cross complementing 2 | Alltid | I 2 tilstander |
| YARS1tyrosyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| ZMPSTE24zinc metallopeptidase STE24 | Alltid | I 1 tilstand |
| ZNF407zinc finger protein 407 | Alltid | I 1 tilstand |
| ACTBactin beta | Svært ofte (80–99 %) | I 1 tilstand |
| ACTG1actin gamma 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ANKLE2ankyrin repeat and LEM domain containing 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ANTXR2ANTXR cell adhesion molecule 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ASPMassembly factor for spindle microtubules | Svært ofte (80–99 %) | I 1 tilstand |
| B4GALT7beta-1,4-galactosyltransferase 7 | Svært ofte (80–99 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CAMKMTcalmodulin-lysine N-methyltransferase | Svært ofte (80–99 %) | I 1 tilstand |
| CDC45cell division cycle 45 | Svært ofte (80–99 %) | I 2 tilstander |
| CDC6cell division cycle 6 | Svært ofte (80–99 %) | I 1 tilstand |
| CDK6cyclin dependent kinase 6 | Svært ofte (80–99 %) | I 1 tilstand |
| CDONcell adhesion associated, oncogene regulated | Svært ofte (80–99 %) | I 4 tilstander |
| CDT1chromatin licensing and DNA replication factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CENPEcentromere protein E | Svært ofte (80–99 %) | I 1 tilstand |
| CEP135centrosomal protein 135 | Svært ofte (80–99 %) | I 1 tilstand |
| CEP152centrosomal protein 152 | Svært ofte (80–99 %) | I 1 tilstand |
| CITcitron rho-interacting serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| COL2A1collagen type II alpha 1 chain | Svært ofte (80–99 %) | I 1 tilstand |
| COL7A1collagen type VII alpha 1 chain | Svært ofte (80–99 %) | I 6 tilstander |
| COPB2coat protein complex I subunit beta 2 | Svært ofte (80–99 %) | I 1 tilstand |
| CPAPcentrosome assembly and centriole elongation protein | Svært ofte (80–99 %) | I 1 tilstand |
| CPLX1complexin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CRIPTOcripto, EGF-CFC family member | Svært ofte (80–99 %) | I 4 tilstander |
| CTBP1C-terminal binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| CTNScystinosin, lysosomal cystine transporter | Svært ofte (80–99 %) | I 3 tilstander |
| CYP19A1cytochrome P450 family 19 subfamily A member 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DCAF17DDB1 and CUL4 associated factor 17 | Svært ofte (80–99 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Svært ofte (80–99 %) | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Svært ofte (80–99 %) | I 2 tilstander |
| DISP1dispatched RND transporter family member 1 | Svært ofte (80–99 %) | I 4 tilstander |
| DLL1delta like canonical Notch ligand 1 | Svært ofte (80–99 %) | I 4 tilstander |
| DMP1dentin matrix acidic phosphoprotein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Svært ofte (80–99 %) | I 1 tilstand |
| EHHADHenoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Svært ofte (80–99 %) | I 2 tilstander |
| EIF2AK3eukaryotic translation initiation factor 2 alpha kinase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| EIF2S3eukaryotic translation initiation factor 2 subunit gamma | Svært ofte (80–99 %) | I 1 tilstand |
| ELP1elongator acetyltransferase complex subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| ENPP1ectonucleotide pyrophosphatase/phosphodiesterase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FANCGFA complementation group G | Svært ofte (80–99 %) | I 2 tilstander |
| FGF8fibroblast growth factor 8 | Svært ofte (80–99 %) | I 4 tilstander |
| FGFRL1fibroblast growth factor receptor like 1 | Svært ofte (80–99 %) | I 1 tilstand |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Svært ofte (80–99 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Svært ofte (80–99 %) | I 1 tilstand |
| FOXH1forkhead box H1 | Svært ofte (80–99 %) | I 4 tilstander |
| GAS1growth arrest specific 1 | Svært ofte (80–99 %) | I 4 tilstander |
| GATMglycine amidinotransferase | Svært ofte (80–99 %) | I 1 tilstand |
| GBA1glucosylceramidase beta 1 | Svært ofte (80–99 %) | I 3 tilstander |
| GHRgrowth hormone receptor | Svært ofte (80–99 %) | I 1 tilstand |
| GHSRgrowth hormone secretagogue receptor | Svært ofte (80–99 %) | I 1 tilstand |
| GLI2GLI family zinc finger 2 | Svært ofte (80–99 %) | I 5 tilstander |
| GMNNgeminin DNA replication inhibitor | Svært ofte (80–99 %) | I 1 tilstand |
| HIC1HIC ZBTB transcriptional repressor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| HLCSholocarboxylase synthetase | Svært ofte (80–99 %) | I 1 tilstand |
| IARS1isoleucyl-tRNA synthetase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| IGF1Rinsulin like growth factor 1 receptor | Svært ofte (80–99 %) | I 2 tilstander |
| IGFALSinsulin like growth factor binding protein acid labile subunit | Svært ofte (80–99 %) | I 1 tilstand |
| IKBKGinhibitor of nuclear factor kappa B kinase regulatory subunit gamma | Svært ofte (80–99 %) | I 1 tilstand |
| KIF14kinesin family member 14 | Svært ofte (80–99 %) | I 1 tilstand |
| KNL1kinetochore scaffold 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LAMA3laminin subunit alpha 3 | Svært ofte (80–99 %) | I 2 tilstander |
| LAMB3laminin subunit beta 3 | Svært ofte (80–99 %) | I 2 tilstander |
| LAMC2laminin subunit gamma 2 | Svært ofte (80–99 %) | I 2 tilstander |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| LIG4DNA ligase 4 | Svært ofte (80–99 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Svært ofte (80–99 %) | I 3 tilstander |
| MCM7minichromosome maintenance complex component 7 | Svært ofte (80–99 %) | I 1 tilstand |
| MCPH1microcephalin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| METTL5methyltransferase 5, N6-adenosine | Svært ofte (80–99 %) | I 1 tilstand |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Svært ofte (80–99 %) | I 1 tilstand |
| MMP1matrix metallopeptidase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| MMUTmethylmalonyl-CoA mutase | Svært ofte (80–99 %) | I 1 tilstand |
| MYH3myosin heavy chain 3 | Svært ofte (80–99 %) | I 1 tilstand |
| MYMKmyomaker, myoblast fusion factor | Svært ofte (80–99 %) | I 2 tilstander |
| NALCNsodium leak channel, non-selective | Svært ofte (80–99 %) | I 1 tilstand |
| NCAPD3non-SMC condensin II complex subunit D3 | Svært ofte (80–99 %) | I 1 tilstand |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| NFKBIANFKB inhibitor alpha | Svært ofte (80–99 %) | I 1 tilstand |
| NHEJ1non-homologous end joining factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Svært ofte (80–99 %) | I 4 tilstander |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| NUP37nucleoporin 37 | Svært ofte (80–99 %) | I 1 tilstand |
| ORC1origin recognition complex subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| ORC4origin recognition complex subunit 4 | Svært ofte (80–99 %) | I 1 tilstand |
| ORC6origin recognition complex subunit 6 | Svært ofte (80–99 %) | I 1 tilstand |
| OSTM1osteoclastogenesis associated transmembrane protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PAX8paired box 8 | Svært ofte (80–99 %) | I 4 tilstander |
| PDCD6IPprogrammed cell death 6 interacting protein | Svært ofte (80–99 %) | I 1 tilstand |
| PHC1polyhomeotic homolog 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PIEZO2piezo type mechanosensitive ion channel component 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PLCH1phospholipase C eta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PPM1Bprotein phosphatase, Mg2+/Mn2+ dependent 1B | Svært ofte (80–99 %) | I 1 tilstand |
| PQBP1polyglutamine binding protein 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PREPLprolyl endopeptidase like | Svært ofte (80–99 %) | I 2 tilstander |
| PTCH1patched 1 | Svært ofte (80–99 %) | I 4 tilstander |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | Svært ofte (80–99 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| RAF1Raf-1 proto-oncogene, serine/threonine kinase | Svært ofte (80–99 %) | I 1 tilstand |
| RECQL4RecQ like helicase 4 | Svært ofte (80–99 %) | I 2 tilstander |
| RPL10ribosomal protein L10 | Svært ofte (80–99 %) | I 2 tilstander |
| SARS1seryl-tRNA synthetase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SASS6SAS-6 centriolar assembly protein | Svært ofte (80–99 %) | I 1 tilstand |
| SCARB2scavenger receptor class B member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SHHsonic hedgehog signaling molecule | Svært ofte (80–99 %) | I 4 tilstander |
| SIX3SIX homeobox 3 | Svært ofte (80–99 %) | I 4 tilstander |
| SLC26A4solute carrier family 26 member 4 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC34A1solute carrier family 34 member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC37A4solute carrier family 37 member 4 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC3A1solute carrier family 3 member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SNX10sorting nexin 10 | Svært ofte (80–99 %) | I 1 tilstand |
| STAG2STAG2 cohesin complex component | Svært ofte (80–99 %) | I 2 tilstander |
| STAT1signal transducer and activator of transcription 1 | Svært ofte (80–99 %) | I 2 tilstander |
| STILSTIL centriolar assembly protein | Svært ofte (80–99 %) | I 5 tilstander |
| TAF13TATA-box binding protein associated factor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Svært ofte (80–99 %) | I 2 tilstander |
| TBR1T-box brain transcription factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TCF4transcription factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Svært ofte (80–99 %) | I 1 tilstand |
| TGIF1TGFB induced factor homeobox 1 | Svært ofte (80–99 %) | I 4 tilstander |
| TNFSF11TNF superfamily member 11 | Svært ofte (80–99 %) | I 1 tilstand |
| TRAPPC10trafficking protein particle complex subunit 10 | Svært ofte (80–99 %) | I 1 tilstand |
| TRAPPC14trafficking protein particle complex subunit 14 | Svært ofte (80–99 %) | I 1 tilstand |
| TRIM37tripartite motif containing 37 | Svært ofte (80–99 %) | I 1 tilstand |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Svært ofte (80–99 %) | I 1 tilstand |
| TSHRthyroid stimulating hormone receptor | Svært ofte (80–99 %) | I 2 tilstander |
| TSHZ3teashirt zinc finger homeobox 3 | Svært ofte (80–99 %) | I 1 tilstand |
| WARS1tryptophanyl-tRNA synthetase 1 | Svært ofte (80–99 %) | I 1 tilstand |
| WDR62WD repeat domain 62 | Svært ofte (80–99 %) | I 1 tilstand |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Svært ofte (80–99 %) | I 1 tilstand |
| ZIC2Zic family zinc finger 2 | Svært ofte (80–99 %) | I 4 tilstander |
| ADA2adenosine deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| AHCYadenosylhomocysteinase | Ofte (30–79 %) | I 1 tilstand |
| AHSGalpha 2-HS glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 2 tilstander |
| ALDOBaldolase, fructose-bisphosphate B | Ofte (30–79 %) | I 1 tilstand |
| ANAPC1anaphase promoting complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Ofte (30–79 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ofte (30–79 %) | I 1 tilstand |
| ARID2AT-rich interaction domain 2 | Ofte (30–79 %) | I 1 tilstand |
| ARXaristaless related homeobox | Ofte (30–79 %) | I 1 tilstand |
| ATG7autophagy related 7 | Ofte (30–79 %) | I 1 tilstand |
| AVParginine vasopressin | Ofte (30–79 %) | I 1 tilstand |
| BANF1barrier to autointegration nuclear assembly factor 1 | Ofte (30–79 %) | I 1 tilstand |
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 1 tilstand |
| CD55CD55 molecule (Cromer blood group) | Ofte (30–79 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Ofte (30–79 %) | I 2 tilstander |
| CHSY1chondroitin sulfate synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| CKAP2Lcytoskeleton associated protein 2L | Ofte (30–79 %) | I 1 tilstand |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Ofte (30–79 %) | I 2 tilstander |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 2 tilstander |
| COG4component of oligomeric golgi complex 4 | Ofte (30–79 %) | I 1 tilstand |
| COG6component of oligomeric golgi complex 6 | Ofte (30–79 %) | I 1 tilstand |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| CYC1cytochrome c1 | Ofte (30–79 %) | I 1 tilstand |
| DEF6DEF6 guanine nucleotide exchange factor | Ofte (30–79 %) | I 1 tilstand |
| DLK1delta like non-canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Ofte (30–79 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Ofte (30–79 %) | I 1 tilstand |
| DZIP1LDAZ interacting zinc finger protein 1 like | Ofte (30–79 %) | I 1 tilstand |
| EFL1elongation factor like GTPase 1 | Ofte (30–79 %) | I 1 tilstand |
| FAHfumarylacetoacetate hydrolase | Ofte (30–79 %) | I 1 tilstand |
| FAM111AFAM111 trypsin like peptidase A | Ofte (30–79 %) | I 1 tilstand |
| FAM149B1family with sequence similarity 149 member B1 | Ofte (30–79 %) | I 1 tilstand |
| FAT4FAT atypical cadherin 4 | Ofte (30–79 %) | I 2 tilstander |
| FCHO1FCH and mu domain containing endocytic adaptor 1 | Ofte (30–79 %) | I 1 tilstand |
| FGF23fibroblast growth factor 23 | Ofte (30–79 %) | I 1 tilstand |
| FOXA2forkhead box A2 | Ofte (30–79 %) | I 1 tilstand |
| FOXE1forkhead box E1 | Ofte (30–79 %) | I 1 tilstand |
| FRA16Efragile site, distamycin A type, rare, fra(16)(p12.1) | Ofte (30–79 %) | I 1 tilstand |
| FRMD4AFERM domain containing 4A | Ofte (30–79 %) | I 1 tilstand |
| GATA1GATA binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| GATA4GATA binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GEMIN4gem nuclear organelle associated protein 4 | Ofte (30–79 %) | I 1 tilstand |
| GLI3GLI family zinc finger 3 | Ofte (30–79 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Ofte (30–79 %) | I 2 tilstander |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Ofte (30–79 %) | I 1 tilstand |
| GORABgolgin, RAB6 interacting | Ofte (30–79 %) | I 1 tilstand |
| HBBhemoglobin subunit beta | Ofte (30–79 %) | I 2 tilstander |
| HEATR3HEAT repeat containing 3 | Ofte (30–79 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Ofte (30–79 %) | I 2 tilstander |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 2 tilstander |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Ofte (30–79 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Ofte (30–79 %) | I 1 tilstand |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Ofte (30–79 %) | I 2 tilstander |
| ITGB6integrin subunit beta 6 | Ofte (30–79 %) | I 1 tilstand |
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 2 tilstander |
| KAT6Blysine acetyltransferase 6B | Ofte (30–79 %) | I 1 tilstand |
| KIAA0753KIAA0753 | Ofte (30–79 %) | I 1 tilstand |
| KIF7kinesin family member 7 | Ofte (30–79 %) | I 2 tilstander |
| KRASKRas proto-oncogene, GTPase | Ofte (30–79 %) | I 4 tilstander |
| KRT14keratin 14 | Ofte (30–79 %) | I 2 tilstander |
| LHX3LIM homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Ofte (30–79 %) | I 2 tilstander |
| LINS1lines homolog 1 | Ofte (30–79 %) | I 1 tilstand |
| LIPAlipase A, lysosomal acid type | Ofte (30–79 %) | I 1 tilstand |
| LMBRD1LMBR1 domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| LRBALPS responsive beige-like anchor protein | Ofte (30–79 %) | I 1 tilstand |
| LSSlanosterol synthase | Ofte (30–79 %) | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ofte (30–79 %) | I 1 tilstand |
| MCTP2multiple C2 and transmembrane domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Ofte (30–79 %) | I 3 tilstander |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 1 tilstand |
| MFFmitochondrial fission factor | Ofte (30–79 %) | I 2 tilstander |
| MICU1mitochondrial calcium uptake 1 | Ofte (30–79 %) | I 1 tilstand |
| MLYCDmalonyl-CoA decarboxylase | Ofte (30–79 %) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Ofte (30–79 %) | I 1 tilstand |
| MPV17mitochondrial inner membrane protein MPV17 | Ofte (30–79 %) | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Ofte (30–79 %) | I 2 tilstander |
| MTR5-methyltetrahydrofolate-homocysteine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| MYMXmyomixer, myoblast fusion factor | Ofte (30–79 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ofte (30–79 %) | I 1 tilstand |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NHP2NHP2 ribonucleoprotein | Ofte (30–79 %) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Ofte (30–79 %) | I 2 tilstander |
| NKX2-5NK2 homeobox 5 | Ofte (30–79 %) | I 3 tilstander |
| NLRP1NLR family pyrin domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| NLRP3NLR family pyrin domain containing 3 | Ofte (30–79 %) | I 2 tilstander |
| NRASNRAS proto-oncogene, GTPase | Ofte (30–79 %) | I 4 tilstander |
| NSUN6NOP2/Sun RNA methyltransferase 6 | Ofte (30–79 %) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Ofte (30–79 %) | I 2 tilstander |
| OTX2orthodenticle homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| PDE6Dphosphodiesterase 6D | Ofte (30–79 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Ofte (30–79 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Ofte (30–79 %) | I 2 tilstander |
| PHEXphosphate regulating endopeptidase X-linked | Ofte (30–79 %) | I 1 tilstand |
| PHKA2phosphorylase kinase regulatory subunit alpha 2 | Ofte (30–79 %) | I 2 tilstander |
| PHKBphosphorylase kinase regulatory subunit beta | Ofte (30–79 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Ofte (30–79 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Ofte (30–79 %) | I 1 tilstand |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Ofte (30–79 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Ofte (30–79 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ofte (30–79 %) | I 2 tilstander |
| PKHD1PKHD1 ciliary IPT domain containing fibrocystin/polyductin | Ofte (30–79 %) | I 1 tilstand |
| PNPLA6patatin like domain 6, lysophospholipase | Ofte (30–79 %) | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Ofte (30–79 %) | I 1 tilstand |
| POU1F1POU class 1 homeobox 1 | Ofte (30–79 %) | I 2 tilstander |
| POU3F4POU class 3 homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Ofte (30–79 %) | I 3 tilstander |
| PUS1pseudouridine synthase 1 | Ofte (30–79 %) | I 1 tilstand |
| PYCR1pyrroline-5-carboxylate reductase 1 | Ofte (30–79 %) | I 1 tilstand |
| PYGLglycogen phosphorylase L | Ofte (30–79 %) | I 1 tilstand |
| RECQLRecQ like helicase | Ofte (30–79 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Ofte (30–79 %) | I 1 tilstand |
| RPL11ribosomal protein L11 | Ofte (30–79 %) | I 2 tilstander |
| RPL15ribosomal protein L15 | Ofte (30–79 %) | I 1 tilstand |
| RPL18ribosomal protein L18 | Ofte (30–79 %) | I 1 tilstand |
| RPL26ribosomal protein L26 | Ofte (30–79 %) | I 1 tilstand |
| RPL27ribosomal protein L27 | Ofte (30–79 %) | I 1 tilstand |
| RPL31ribosomal protein L31 | Ofte (30–79 %) | I 1 tilstand |
| RPL35ribosomal protein L35 | Ofte (30–79 %) | I 1 tilstand |
| RPL35Aribosomal protein L35a | Ofte (30–79 %) | I 1 tilstand |
| RPL5ribosomal protein L5 | Ofte (30–79 %) | I 2 tilstander |
| RPL8ribosomal protein L8 | Ofte (30–79 %) | I 1 tilstand |
| RPL9ribosomal protein L9 | Ofte (30–79 %) | I 1 tilstand |
| RPS10ribosomal protein S10 | Ofte (30–79 %) | I 2 tilstander |
| RPS15Aribosomal protein S15a | Ofte (30–79 %) | I 1 tilstand |
| RPS17ribosomal protein S17 | Ofte (30–79 %) | I 2 tilstander |
| RPS19ribosomal protein S19 | Ofte (30–79 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Ofte (30–79 %) | I 1 tilstand |
| RPS24ribosomal protein S24 | Ofte (30–79 %) | I 1 tilstand |
| RPS26ribosomal protein S26 | Ofte (30–79 %) | I 2 tilstander |
| RPS27ribosomal protein S27 | Ofte (30–79 %) | I 1 tilstand |
| RPS28ribosomal protein S28 | Ofte (30–79 %) | I 1 tilstand |
| RPS29ribosomal protein S29 | Ofte (30–79 %) | I 1 tilstand |
| RPS7ribosomal protein S7 | Ofte (30–79 %) | I 2 tilstander |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 1 tilstand |
| SAR1Bsecretion associated Ras related GTPase 1B | Ofte (30–79 %) | I 2 tilstander |
| SATB2SATB homeobox 2 | Ofte (30–79 %) | I 2 tilstander |
| SBDSSBDS ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| SLC2A2solute carrier family 2 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC34A3solute carrier family 34 member 3 | Ofte (30–79 %) | I 2 tilstander |
| SLC7A7solute carrier family 7 member 7 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Ofte (30–79 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Ofte (30–79 %) | I 1 tilstand |
| SMG9SMG9 nonsense mediated mRNA decay factor | Ofte (30–79 %) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| SOX10SRY-box transcription factor 10 | Ofte (30–79 %) | I 1 tilstand |
| SOX3SRY-box transcription factor 3 | Ofte (30–79 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SPARTspartin | Ofte (30–79 %) | I 1 tilstand |
| SPINK5serine peptidase inhibitor Kazal type 5 | Ofte (30–79 %) | I 1 tilstand |
| SPRsepiapterin reductase | Ofte (30–79 %) | I 2 tilstander |
| SRCAPSnf2 related CREBBP activator protein | Ofte (30–79 %) | I 1 tilstand |
| STEAP3STEAP3 metalloreductase | Ofte (30–79 %) | I 2 tilstander |
| SUCLG1succinate-CoA ligase GDP/ADP-forming subunit alpha | Ofte (30–79 %) | I 2 tilstander |
| TBCEtubulin folding cofactor E | Ofte (30–79 %) | I 2 tilstander |
| TCTN3tectonic family member 3 | Ofte (30–79 %) | I 2 tilstander |
| TINF2TERF1 interacting nuclear factor 2 | Ofte (30–79 %) | I 2 tilstander |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TMEM67transmembrane protein 67 | Ofte (30–79 %) | I 2 tilstander |
| TMEM70transmembrane protein 70 | Ofte (30–79 %) | I 2 tilstander |
| TNFRSF11ATNF receptor superfamily member 11a | Ofte (30–79 %) | I 1 tilstand |
| TOPORSTOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Ofte (30–79 %) | I 1 tilstand |
| TRHRthyrotropin releasing hormone receptor | Ofte (30–79 %) | I 2 tilstander |
| TRIP13thyroid hormone receptor interactor 13 | Ofte (30–79 %) | I 2 tilstander |
| TSHBthyroid stimulating hormone subunit beta | Ofte (30–79 %) | I 1 tilstand |
| TSPYL1TSPY like 1 | Ofte (30–79 %) | I 2 tilstander |
| TSR2TSR2 ribosome maturation factor | Ofte (30–79 %) | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ofte (30–79 %) | I 1 tilstand |
| USB1U6 snRNA biogenesis phosphodiesterase 1 | Ofte (30–79 %) | I 1 tilstand |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Ofte (30–79 %) | I 1 tilstand |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Ofte (30–79 %) | I 1 tilstand |
| XPO1exportin 1 | Ofte (30–79 %) | I 1 tilstand |
| XYLT1xylosyltransferase 1 | Ofte (30–79 %) | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Ofte (30–79 %) | I 1 tilstand |
| ABCB7ATP binding cassette subfamily B member 7 | Noen ganger (5–29 %) | I 1 tilstand |
| ABCD1ATP binding cassette subfamily D member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALDOAaldolase, fructose-bisphosphate A | Noen ganger (5–29 %) | I 1 tilstand |
| AMNamnion associated transmembrane protein | Noen ganger (5–29 %) | I 1 tilstand |
| ANK1ankyrin 1 | Noen ganger (5–29 %) | I 2 tilstander |
| ANTXR1ANTXR cell adhesion molecule 1 | Noen ganger (5–29 %) | I 2 tilstander |
| AQP2aquaporin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATRXATRX chromatin remodeler | Noen ganger (5–29 %) | I 2 tilstander |
| AVPR2arginine vasopressin receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BCRBCR activator of RhoGEF and GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA1BRCA1 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BRIP1BRCA1 interacting DNA helicase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BUB1BUB1 mitotic checkpoint serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| BUB1BBUB1 mitotic checkpoint serine/threonine kinase B | Noen ganger (5–29 %) | I 1 tilstand |
| BUB3BUB3 mitotic checkpoint protein | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Noen ganger (5–29 %) | I 1 tilstand |
| CBLIFcobalamin binding intrinsic factor | Noen ganger (5–29 %) | I 1 tilstand |
| COL17A1collagen type XVII alpha 1 chain | Noen ganger (5–29 %) | I 2 tilstander |
| COX7Bcytochrome c oxidase subunit 7B | Noen ganger (5–29 %) | I 1 tilstand |
| CRKLCRK like proto-oncogene, adaptor protein | Noen ganger (5–29 %) | I 1 tilstand |
| CTLA4cytotoxic T-lymphocyte associated protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DOCK2dedicator of cytokinesis 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DOCK8dedicator of cytokinesis 8 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSdihydropyrimidinase | Noen ganger (5–29 %) | I 2 tilstander |
| ECE1endothelin converting enzyme 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EDN3endothelin 3 | Noen ganger (5–29 %) | I 1 tilstand |
| EDNRBendothelin receptor type B | Noen ganger (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ENGendoglin | Noen ganger (5–29 %) | I 1 tilstand |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Noen ganger (5–29 %) | I 1 tilstand |
| EXT1exostosin glycosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FAAP100FA core complex associated protein 100 | Noen ganger (5–29 %) | I 1 tilstand |
| FAM111BFAM111 trypsin like peptidase B | Noen ganger (5–29 %) | I 1 tilstand |
| FANCAFA complementation group A | 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 |
| FANCIFA complementation group I | Noen ganger (5–29 %) | I 1 tilstand |
| FANCMFA complementation group M | Noen ganger (5–29 %) | I 1 tilstand |
| FOXC1forkhead box C1 | Noen ganger (5–29 %) | I 1 tilstand |
| G6PC1glucose-6-phosphatase catalytic subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GDNFglial cell derived neurotrophic factor | Noen ganger (5–29 %) | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| H4C5H4 clustered histone 5 | Noen ganger (5–29 %) | I 1 tilstand |
| HCCSholocytochrome c synthase | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-DRB1major histocompatibility complex, class II, DR beta 1 | Noen ganger (5–29 %) | I 1 tilstand |
| HRASHRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 2 tilstander |
| IDH2isocitrate dehydrogenase (NADP(+)) 2 | Noen ganger (5–29 %) | I 1 tilstand |
| IL6interleukin 6 | Noen ganger (5–29 %) | I 2 tilstander |
| ITGB4integrin subunit beta 4 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Noen ganger (5–29 %) | I 1 tilstand |
| KIF26Akinesin family member 26A | Noen ganger (5–29 %) | I 1 tilstand |
| LACC1laccase domain multifunctional purine nucleosidase 1 | 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 |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPK1mitogen-activated protein kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MED12mediator complex subunit 12 | Noen ganger (5–29 %) | I 1 tilstand |
| MID1midline 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MIFmacrophage migration inhibitory factor | Noen ganger (5–29 %) | I 1 tilstand |
| MVKmevalonate kinase | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 2 tilstander |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Noen ganger (5–29 %) | I 1 tilstand |
| NFE2L2NFE2 like bZIP transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NRTNneurturin | Noen ganger (5–29 %) | I 1 tilstand |
| NTNG1netrin G1 | Noen ganger (5–29 %) | I 1 tilstand |
| NTRK1neurotrophic receptor tyrosine kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PALB2partner and localizer of BRCA2 | Noen ganger (5–29 %) | I 1 tilstand |
| PAX2paired box 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PBX1PBX homeobox 1 | Noen ganger (5–29 %) | I 2 tilstander |
| PCSK1proprotein convertase subtilisin/kexin type 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PITX2paired like homeodomain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| POMCproopiomelanocortin | Noen ganger (5–29 %) | I 1 tilstand |
| RAD21RAD21 cohesin complex component | Noen ganger (5–29 %) | I 1 tilstand |
| RAD51CRAD51 paralog C | Noen ganger (5–29 %) | I 1 tilstand |
| RETret proto-oncogene | Noen ganger (5–29 %) | I 1 tilstand |
| SECISBP2SECIS binding protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Csemaphorin 3C | Noen ganger (5–29 %) | I 1 tilstand |
| SEMA3Dsemaphorin 3D | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD4SMAD family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Noen ganger (5–29 %) | I 1 tilstand |
| SOX2SRY-box transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SREBF1sterol regulatory element binding transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TIAM1TIAM Rac1 associated GEF 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TLR8toll like receptor 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM163transmembrane protein 163 | Noen ganger (5–29 %) | I 1 tilstand |
| TRNT1tRNA nucleotidyl transferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRPS1transcriptional repressor GATA binding 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TWIST2twist family bHLH transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UBE2Tubiquitin conjugating enzyme E2 T | Noen ganger (5–29 %) | I 1 tilstand |
| UPB1beta-ureidopropionase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR19WD repeat domain 19 | Noen ganger (5–29 %) | I 1 tilstand |
| WWOXWW domain containing oxidoreductase | Noen ganger (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ATL1atlastin GTPase 1 | Sjelden (1–4%) | I 1 tilstand |
| EPB42erythrocyte membrane protein band 4.2 | Sjelden (1–4%) | I 1 tilstand |
| SLC4A1solute carrier family 4 member 1 (Diego blood group) | Sjelden (1–4%) | I 1 tilstand |
| SPTA1spectrin alpha, erythrocytic 1 | Sjelden (1–4%) | I 1 tilstand |
| SPTBspectrin beta, erythrocytic | Sjelden (1–4%) | I 1 tilstand |
| ABCD4ATP binding cassette subfamily D member 4 | Ikke registrert | I 1 tilstand |
| ACACAacetyl-CoA carboxylase alpha | Ikke registrert | I 1 tilstand |
| ADSLadenylosuccinate lyase | Ikke registrert | I 1 tilstand |
| AGKacylglycerol kinase | Ikke registrert | I 1 tilstand |
| ALOX12Barachidonate 12-lipoxygenase, 12R type | Ikke registrert | I 1 tilstand |
| ALOXE3arachidonate epidermal lipoxygenase 3 | Ikke registrert | I 1 tilstand |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Ikke registrert | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Ikke registrert | I 1 tilstand |
| ATP6V0A4ATPase H+ transporting V0 subunit a4 | Ikke registrert | I 1 tilstand |
| BCORBCL6 corepressor | Ikke registrert | I 1 tilstand |
| CDIN1CDAN1 interacting nuclease 1 | Ikke registrert | I 1 tilstand |
| COG7component of oligomeric golgi complex 7 | Ikke registrert | I 1 tilstand |
| COLEC10collectin subfamily member 10 | Ikke registrert | I 1 tilstand |
| CYB5R3cytochrome b5 reductase 3 | Ikke registrert | I 1 tilstand |
| CYP11B2cytochrome P450 family 11 subfamily B member 2 | Ikke registrert | I 2 tilstander |
| CYP27B1cytochrome P450 family 27 subfamily B member 1 | Ikke registrert | I 1 tilstand |
| CYP2R1cytochrome P450 family 2 subfamily R member 1 | Ikke registrert | I 1 tilstand |
| CYP3A4cytochrome P450 family 3 subfamily A member 4 | Ikke registrert | I 1 tilstand |
| DCHS1dachsous cadherin-related 1 | Ikke registrert | I 1 tilstand |
| DGUOKdeoxyguanosine kinase | Ikke registrert | I 1 tilstand |
| DHODHdihydroorotate dehydrogenase (quinone) | Ikke registrert | I 1 tilstand |
| DSG1desmoglein 1 | Ikke registrert | I 1 tilstand |
| DSTdystonin | Ikke registrert | I 1 tilstand |
| DUOXA2dual oxidase maturation factor 2 | Ikke registrert | I 1 tilstand |
| ELOVL4ELOVL fatty acid elongase 4 | Ikke registrert | I 1 tilstand |
| EXOSC3exosome component 3 | Ikke registrert | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| FBXL4F-box and leucine rich repeat protein 4 | Ikke registrert | I 1 tilstand |
| FTCDformimidoyltransferase cyclodeaminase | Ikke registrert | I 1 tilstand |
| G6PC3glucose-6-phosphatase catalytic subunit 3 | Ikke registrert | I 1 tilstand |
| GKglycerol kinase | Ikke registrert | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Ikke registrert | I 1 tilstand |
| HADHhydroxyacyl-CoA dehydrogenase | Ikke registrert | I 1 tilstand |
| HSD11B2hydroxysteroid 11-beta dehydrogenase 2 | Ikke registrert | I 1 tilstand |
| HTRA2HtrA serine peptidase 2 | Ikke registrert | I 1 tilstand |
| ISCA1iron-sulfur cluster assembly 1 | Ikke registrert | I 1 tilstand |
| IYDiodotyrosine deiodinase | Ikke registrert | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Ikke registrert | I 1 tilstand |
| LPIN2lipin 2 | Ikke registrert | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Ikke registrert | I 1 tilstand |
| MASP1MBL associated serine protease 1 | Ikke registrert | I 1 tilstand |
| MDH1malate dehydrogenase 1 | Ikke registrert | I 1 tilstand |
| MOCS1molybdenum cofactor synthesis 1 | Ikke registrert | I 1 tilstand |
| MOCS2molybdenum cofactor synthesis 2 | Ikke registrert | I 1 tilstand |
| MRPS22mitochondrial ribosomal protein S22 | Ikke registrert | I 1 tilstand |
| MYO5Bmyosin VB | Ikke registrert | I 1 tilstand |
| NDST1N-deacetylase and N-sulfotransferase 1 | Ikke registrert | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Ikke registrert | I 1 tilstand |
| NOD2nucleotide binding oligomerization domain containing 2 | Ikke registrert | I 1 tilstand |
| NPHP1nephrocystin 1 | Ikke registrert | I 1 tilstand |
| NPHP4nephrocystin 4 | Ikke registrert | I 1 tilstand |
| NPHS1NPHS1 adhesion molecule, nephrin | Ikke registrert | I 1 tilstand |
| NUBPLNUBP iron-sulfur cluster assembly factor, mitochondrial | Ikke registrert | I 1 tilstand |
| PAX6paired box 6 | Ikke registrert | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Ikke registrert | I 1 tilstand |
| PHGDHphosphoglycerate dehydrogenase | Ikke registrert | I 1 tilstand |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Ikke registrert | I 1 tilstand |
| PIGHphosphatidylinositol glycan anchor biosynthesis class H | Ikke registrert | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Ikke registrert | I 1 tilstand |
| PIK3R1phosphoinositide-3-kinase regulatory subunit 1 | Ikke registrert | I 1 tilstand |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Ikke registrert | I 1 tilstand |
| POC1APOC1 centriolar protein A | Ikke registrert | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Ikke registrert | I 1 tilstand |
| PPP1R15Bprotein phosphatase 1 regulatory subunit 15B | Ikke registrert | I 1 tilstand |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Ikke registrert | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Ikke registrert | I 1 tilstand |
| RBCK1RANBP2-type and C3HC4-type zinc finger containing 1 | Ikke registrert | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ikke registrert | I 1 tilstand |
| SH3PXD2BSH3 and PX domains 2B | Ikke registrert | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ikke registrert | I 1 tilstand |
| SLC10A2solute carrier family 10 member 2 | Ikke registrert | I 1 tilstand |
| SLC12A3solute carrier family 12 member 3 | Ikke registrert | I 1 tilstand |
| SLC17A5solute carrier family 17 member 5 | Ikke registrert | I 1 tilstand |
| SLC25A13solute carrier family 25 member 13 | Ikke registrert | I 1 tilstand |
| SLC26A3solute carrier family 26 member 3 | Ikke registrert | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Ikke registrert | I 1 tilstand |
| SLC5A5solute carrier family 5 member 5 | Ikke registrert | I 1 tilstand |
| SMOC1SPARC related modular calcium binding 1 | Ikke registrert | I 1 tilstand |
| TATtyrosine aminotransferase | Ikke registrert | I 1 tilstand |
| THRAthyroid hormone receptor alpha | Ikke registrert | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ikke registrert | I 1 tilstand |
| UFM1ubiquitin fold modifier 1 | Ikke registrert | I 1 tilstand |
| VDRvitamin D receptor | Ikke registrert | I 1 tilstand |
| YARS2tyrosyl-tRNA synthetase 2 | Ikke registrert | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Ikke registrert | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | 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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