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Egenskap
Loss of developmental milestones
Klinisk navn: Developmental regression
Loss of developmental skills, as manifested by loss of developmental milestones.
Sammendrag
- Også kalt
- Mental deterioration in childhood, Loss of acquired milestones, Loss of milestones, Neurodevelopmental regression, Psychomotor regression, Psychomotor regression beginning in infancy, Psychomotor regression in infants, Psychomotor regression, progressive
- Kroppssystem
- Abnormality of the nervous system
Loss of developmental milestonesHP:0002376
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Read the genes linked to Loss of developmental milestones, and the rest of your genome, with one test.
Fra 449 $Gratis frakt · Resultater på 6–8 uker
Få mitt Genome Test447 gener knyttet til Loss of developmental milestones
Endringer i disse genene forårsaker sjeldne tilstander der Loss of developmental milestones 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 |
|---|---|---|
| AARS2alanyl-tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| ACER3alkaline ceramidase 3 | Alltid | I 1 tilstand |
| ACOX1acyl-CoA oxidase 1 | Alltid | I 2 tilstander |
| AHDC1AT-hook DNA binding motif containing 1 | Alltid | I 1 tilstand |
| AIFM1apoptosis inducing factor mitochondria associated 1 | Alltid | I 3 tilstander |
| ARHGEF9Cdc42 guanine nucleotide exchange factor 9 | Alltid | I 2 tilstander |
| ARV1ARV1 fatty acid homeostasis modulator | Alltid | I 1 tilstand |
| ATP11AATPase phospholipid transporting 11A | Alltid | I 1 tilstand |
| ATP5MKATP synthase membrane subunit k | Alltid | I 1 tilstand |
| ATP6V0CATPase H+ transporting V0 subunit c | Alltid | I 1 tilstand |
| ATP7AATPase copper transporting alpha | Alltid | I 2 tilstander |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Alltid | I 1 tilstand |
| CAMLGcalcium modulating ligand | Alltid | I 1 tilstand |
| CASP2caspase 2 | Alltid | I 1 tilstand |
| CCT3chaperonin containing TCP1 subunit 3 | Alltid | I 1 tilstand |
| CHD2chromodomain helicase DNA binding protein 2 | Alltid | I 2 tilstander |
| CLN8CLN8 transmembrane ER and ERGIC protein | Alltid | I 1 tilstand |
| COX10cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 | Alltid | I 1 tilstand |
| COX15cytochrome c oxidase assembly factor COX15 | Alltid | I 1 tilstand |
| COX4I1cytochrome c oxidase subunit 4I1 | Alltid | I 1 tilstand |
| COX6B1cytochrome c oxidase subunit 6B1 | Alltid | I 1 tilstand |
| CRLS1cardiolipin synthase 1 | Alltid | I 1 tilstand |
| EEFSECeukaryotic elongation factor, selenocysteine-tRNA specific | Alltid | I 1 tilstand |
| EPRS1glutamyl-prolyl-tRNA synthetase 1 | Alltid | I 1 tilstand |
| FAR1fatty acyl-CoA reductase 1 | Alltid | I 1 tilstand |
| FASTKD2FASTK mitochondrial RNA regulator 2 | Alltid | I 1 tilstand |
| FGF12fibroblast growth factor 12 | Alltid | I 2 tilstander |
| FUCA1alpha-L-fucosidase 1 | Alltid | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Alltid | I 3 tilstander |
| GABRB1gamma-aminobutyric acid type A receptor subunit beta1 | Alltid | I 1 tilstand |
| HEPHL1hephaestin like 1 | Alltid | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Alltid | I 2 tilstander |
| HIBCH3-hydroxyisobutyryl-CoA hydrolase | Alltid | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Alltid | I 1 tilstand |
| HTThuntingtin | Alltid | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Alltid | I 2 tilstander |
| KARS1lysyl-tRNA synthetase 1 | Alltid | I 2 tilstander |
| KCTD7potassium channel tetramerization domain containing 7 | Alltid | I 2 tilstander |
| LIPT1lipoyltransferase 1 | Alltid | I 1 tilstand |
| LNPKlunapark, ER junction formation factor | Alltid | I 1 tilstand |
Vis 407 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| MECP2methyl-CpG binding protein 2 | Alltid | I 4 tilstander |
| MFFmitochondrial fission factor | Alltid | I 2 tilstander |
| MPV17mitochondrial inner membrane protein MPV17 | Alltid | I 1 tilstand |
| MSL2MSL complex subunit 2 | Alltid | I 1 tilstand |
| MT-TNmitochondrially encoded tRNA-Asn (AAU/C) | Alltid | I 1 tilstand |
| MT-TS1mitochondrially encoded tRNA-Ser (UCN) 1 | Alltid | I 1 tilstand |
| MTRFRmitochondrial translation release factor in rescue | Alltid | I 2 tilstander |
| NALCNsodium leak channel, non-selective | Alltid | I 1 tilstand |
| NDUFA2NADH:ubiquinone oxidoreductase subunit A2 | Alltid | I 1 tilstand |
| NDUFAF6NADH:ubiquinone oxidoreductase complex assembly factor 6 | Alltid | I 1 tilstand |
| PCYT2phosphate cytidylyltransferase 2, ethanolamine | Alltid | I 1 tilstand |
| PET117PET117 cytochrome c oxidase chaperone | Alltid | I 1 tilstand |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Alltid | I 4 tilstander |
| PLCB1phospholipase C beta 1 | Alltid | I 3 tilstander |
| PMPCBpeptidase, mitochondrial processing subunit beta | Alltid | I 1 tilstand |
| POLR3ARNA polymerase III subunit A | Alltid | I 2 tilstander |
| POLR3BRNA polymerase III subunit B | Alltid | I 1 tilstand |
| PSAPprosaposin | Alltid | I 5 tilstander |
| PTCD3pentatricopeptide repeat domain 3 | Alltid | I 1 tilstand |
| REEP1receptor accessory protein 1 | Alltid | I 1 tilstand |
| SCO1synthesis of cytochrome C oxidase 1 | Alltid | I 1 tilstand |
| SCO2synthesis of cytochrome C oxidase 2 | Alltid | I 2 tilstander |
| SDHAsuccinate dehydrogenase complex flavoprotein subunit A | Alltid | I 2 tilstander |
| SDHAF1succinate dehydrogenase complex assembly factor 1 | Alltid | I 2 tilstander |
| SDHBsuccinate dehydrogenase complex iron sulfur subunit B | Alltid | I 2 tilstander |
| SDHDsuccinate dehydrogenase complex subunit D | Alltid | I 2 tilstander |
| SERAC1serine active site containing 1 | Alltid | I 2 tilstander |
| SLC19A3solute carrier family 19 member 3 | Alltid | I 1 tilstand |
| SLC30A9solute carrier family 30 member 9 | Alltid | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Alltid | I 3 tilstander |
| SMPD1sphingomyelin phosphodiesterase 1 | Alltid | I 1 tilstand |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Alltid | I 1 tilstand |
| SURF1SURF1 cytochrome c oxidase assembly factor | Alltid | I 1 tilstand |
| SV2Asynaptic vesicle glycoprotein 2A | Alltid | I 1 tilstand |
| TACO1translational activator of cytochrome c oxidase I | Alltid | I 1 tilstand |
| TANGO2transport and golgi organization 2 homolog | Alltid | I 2 tilstander |
| TBC1D24TBC1 domain family member 24 | Alltid | I 4 tilstander |
| TRAPPC12trafficking protein particle complex subunit 12 | Alltid | I 2 tilstander |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Alltid | I 1 tilstand |
| TUBB4Atubulin beta 4A class IVa | Alltid | I 1 tilstand |
| UBTFupstream binding transcription factor | Alltid | I 2 tilstander |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Alltid | I 1 tilstand |
| ZBTB18zinc finger and BTB domain containing 18 | Alltid | I 1 tilstand |
| ARXaristaless related homeobox | Svært ofte (80–99 %) | I 2 tilstander |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Svært ofte (80–99 %) | I 2 tilstander |
| CD4CD4 molecule | Svært ofte (80–99 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Svært ofte (80–99 %) | I 4 tilstander |
| CNPY3canopy FGF signaling regulator 3 | Svært ofte (80–99 %) | I 1 tilstand |
| COA8cytochrome c oxidase assembly factor 8 | Svært ofte (80–99 %) | I 2 tilstander |
| DDB2damage specific DNA binding protein 2 | Svært ofte (80–99 %) | I 1 tilstand |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC2ERCC excision repair 2, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC3ERCC excision repair 3, TFIIH core complex helicase subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Svært ofte (80–99 %) | I 1 tilstand |
| ERCC5ERCC excision repair 5, endonuclease | Svært ofte (80–99 %) | I 1 tilstand |
| ERLIN2ER lipid raft associated 2 | Svært ofte (80–99 %) | I 1 tilstand |
| FOXG1forkhead box G1 | Svært ofte (80–99 %) | I 3 tilstander |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Svært ofte (80–99 %) | I 2 tilstander |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Svært ofte (80–99 %) | I 3 tilstander |
| GLB1galactosidase beta 1 | Svært ofte (80–99 %) | I 1 tilstand |
| GM2Aganglioside GM2 activator | Svært ofte (80–99 %) | I 1 tilstand |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Svært ofte (80–99 %) | I 1 tilstand |
| GUF1GTP binding elongation factor GUF1 | Svært ofte (80–99 %) | I 1 tilstand |
| IBA57iron-sulfur cluster assembly factor IBA57 | Svært ofte (80–99 %) | I 2 tilstander |
| IRF4interferon regulatory factor 4 | Svært ofte (80–99 %) | I 1 tilstand |
| ISCA2iron-sulfur cluster assembly 2 | Svært ofte (80–99 %) | I 2 tilstander |
| KCNQ2potassium voltage-gated channel subfamily Q member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Svært ofte (80–99 %) | I 2 tilstander |
| NAGAalpha-N-acetylgalactosaminidase | Svært ofte (80–99 %) | I 2 tilstander |
| NAXDNAD(P)HX dehydratase | Svært ofte (80–99 %) | I 2 tilstander |
| NTNG1netrin G1 | Svært ofte (80–99 %) | I 1 tilstand |
| NTNG2netrin G2 | Svært ofte (80–99 %) | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Svært ofte (80–99 %) | I 2 tilstander |
| PCDH19protocadherin 19 | Svært ofte (80–99 %) | I 2 tilstander |
| PEX1peroxisomal biogenesis factor 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX10peroxisomal biogenesis factor 10 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX11Bperoxisomal biogenesis factor 11 beta | Svært ofte (80–99 %) | I 1 tilstand |
| PEX12peroxisomal biogenesis factor 12 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX13peroxisomal biogenesis factor 13 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX14peroxisomal biogenesis factor 14 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX16peroxisomal biogenesis factor 16 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX19peroxisomal biogenesis factor 19 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX2peroxisomal biogenesis factor 2 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX26peroxisomal biogenesis factor 26 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX3peroxisomal biogenesis factor 3 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX5peroxisomal biogenesis factor 5 | Svært ofte (80–99 %) | I 1 tilstand |
| PEX6peroxisomal biogenesis factor 6 | Svært ofte (80–99 %) | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Svært ofte (80–99 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Svært ofte (80–99 %) | I 2 tilstander |
| RNU2-2RNA, U2 small nuclear 2 | Svært ofte (80–99 %) | I 1 tilstand |
| ROGDIrogdi atypical leucine zipper | Svært ofte (80–99 %) | I 2 tilstander |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Svært ofte (80–99 %) | I 6 tilstander |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Svært ofte (80–99 %) | I 3 tilstander |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Svært ofte (80–99 %) | I 5 tilstander |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Svært ofte (80–99 %) | I 2 tilstander |
| SIK1salt inducible kinase 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC12A5solute carrier family 12 member 5 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC13A5solute carrier family 13 member 5 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC25A22solute carrier family 25 member 22 | Svært ofte (80–99 %) | I 2 tilstander |
| SLC29A3solute carrier family 29 member 3 | Svært ofte (80–99 %) | I 1 tilstand |
| SLC9A6solute carrier family 9 member A6 | Svært ofte (80–99 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Svært ofte (80–99 %) | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Svært ofte (80–99 %) | I 1 tilstand |
| SUMF1sulfatase modifying factor 1 | 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 |
| TNFRSF11ATNF receptor superfamily member 11a | Svært ofte (80–99 %) | I 1 tilstand |
| TREM2triggering receptor expressed on myeloid cells 2 | Svært ofte (80–99 %) | I 1 tilstand |
| TYROBPtransmembrane immune signaling adaptor TYROBP | Svært ofte (80–99 %) | I 1 tilstand |
| WDR45WD repeat domain 45 | Svært ofte (80–99 %) | I 1 tilstand |
| XPAXPA, DNA damage recognition and repair factor | Svært ofte (80–99 %) | I 1 tilstand |
| XPCXPC complex subunit, DNA damage recognition and repair factor | Svært ofte (80–99 %) | I 1 tilstand |
| ZBTB20zinc finger and BTB domain containing 20 | Svært ofte (80–99 %) | I 1 tilstand |
| AARS1alanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Ofte (30–79 %) | I 1 tilstand |
| ADA2adenosine deaminase 2 | Ofte (30–79 %) | I 1 tilstand |
| ADARadenosine deaminase RNA specific | Ofte (30–79 %) | I 3 tilstander |
| ADPRSADP-ribosylserine hydrolase | Ofte (30–79 %) | I 1 tilstand |
| AHCYadenosylhomocysteinase | Ofte (30–79 %) | I 1 tilstand |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Ofte (30–79 %) | I 1 tilstand |
| ARSAarylsulfatase A | Ofte (30–79 %) | I 3 tilstander |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Ofte (30–79 %) | I 2 tilstander |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1AATPase H+ transporting V1 subunit A | Ofte (30–79 %) | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Ofte (30–79 %) | I 1 tilstand |
| BOLA3bolA family member 3 | Ofte (30–79 %) | I 2 tilstander |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 2 tilstander |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Ofte (30–79 %) | I 2 tilstander |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Ofte (30–79 %) | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| CDK19cyclin dependent kinase 19 | Ofte (30–79 %) | I 1 tilstand |
| CELF2CUGBP Elav-like family member 2 | Ofte (30–79 %) | I 1 tilstand |
| CHD8chromodomain helicase DNA binding protein 8 | Ofte (30–79 %) | I 1 tilstand |
| CLPBClpB family mitochondrial disaggregase | Ofte (30–79 %) | I 2 tilstander |
| CLTCclathrin heavy chain | Ofte (30–79 %) | I 1 tilstand |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Ofte (30–79 %) | I 1 tilstand |
| COG8component of oligomeric golgi complex 8 | Ofte (30–79 %) | I 2 tilstander |
| COQ8Acoenzyme Q8A | Ofte (30–79 %) | I 1 tilstand |
| CPLX1complexin 1 | Ofte (30–79 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Ofte (30–79 %) | I 1 tilstand |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| DALRD3DALR anticodon binding domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Ofte (30–79 %) | I 2 tilstander |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Ofte (30–79 %) | I 1 tilstand |
| DHDDSdehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 1 tilstand |
| DNM1dynamin 1 | Ofte (30–79 %) | I 3 tilstander |
| DNM1Ldynamin 1L | Ofte (30–79 %) | I 2 tilstander |
| DTYMKdeoxythymidylate kinase | Ofte (30–79 %) | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| ETHE1ETHE1 persulfide dioxygenase | Ofte (30–79 %) | I 2 tilstander |
| FASTKD5FASTK mitochondrial RNA regulator 5 | Ofte (30–79 %) | I 1 tilstand |
| FBXO28F-box protein 28 | Ofte (30–79 %) | I 2 tilstander |
| FDXRferredoxin reductase | Ofte (30–79 %) | I 2 tilstander |
| FRRS1Lferric chelate reductase 1 like | Ofte (30–79 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Ofte (30–79 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ofte (30–79 %) | I 1 tilstand |
| GABRA5gamma-aminobutyric acid type A receptor subunit alpha5 | Ofte (30–79 %) | I 1 tilstand |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Ofte (30–79 %) | I 1 tilstand |
| GALCgalactosylceramidase | Ofte (30–79 %) | I 2 tilstander |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Ofte (30–79 %) | I 3 tilstander |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Ofte (30–79 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Ofte (30–79 %) | I 2 tilstander |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Ofte (30–79 %) | I 1 tilstand |
| HPDL4-hydroxyphenylpyruvate dioxygenase like | Ofte (30–79 %) | I 1 tilstand |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Ofte (30–79 %) | I 2 tilstander |
| IARS2isoleucyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| IFIH1interferon induced with helicase C domain 1 | Ofte (30–79 %) | I 2 tilstander |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Ofte (30–79 %) | I 1 tilstand |
| ISCA1iron-sulfur cluster assembly 1 | Ofte (30–79 %) | I 2 tilstander |
| JKAMPJNK1/MAPK8 associated membrane protein | Ofte (30–79 %) | I 1 tilstand |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Ofte (30–79 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Ofte (30–79 %) | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Ofte (30–79 %) | I 2 tilstander |
| KLHL20kelch like family member 20 | Ofte (30–79 %) | I 1 tilstand |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Ofte (30–79 %) | I 1 tilstand |
| LRPPRCleucine rich pentatricopeptide repeat containing | Ofte (30–79 %) | I 1 tilstand |
| LSM11LSM11, U7 small nuclear RNA associated | Ofte (30–79 %) | I 1 tilstand |
| LYRM7LYR motif containing 7 | Ofte (30–79 %) | I 1 tilstand |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Ofte (30–79 %) | I 1 tilstand |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Ofte (30–79 %) | I 2 tilstander |
| MED27mediator complex subunit 27 | Ofte (30–79 %) | I 1 tilstand |
| MRPL39mitochondrial ribosomal protein L39 | Ofte (30–79 %) | I 1 tilstand |
| MT-ATP6mitochondrially encoded ATP synthase membrane subunit 6 | Ofte (30–79 %) | I 2 tilstander |
| NAXENAD(P)HX epimerase | Ofte (30–79 %) | I 2 tilstander |
| NDUFC2NADH:ubiquinone oxidoreductase subunit C2 | Ofte (30–79 %) | I 1 tilstand |
| NDUFS1NADH:ubiquinone oxidoreductase core subunit S1 | Ofte (30–79 %) | I 1 tilstand |
| NDUFV1NADH:ubiquinone oxidoreductase core subunit V1 | Ofte (30–79 %) | I 1 tilstand |
| NECAP1NECAP endocytosis associated 1 | Ofte (30–79 %) | I 1 tilstand |
| NFU1NFU1 iron-sulfur cluster scaffold | Ofte (30–79 %) | I 3 tilstander |
| NGLY1N-glycanase 1 | Ofte (30–79 %) | I 1 tilstand |
| NKX6-2NK6 homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| NUP214nucleoporin 214 | Ofte (30–79 %) | I 1 tilstand |
| NUP54nucleoporin 54 | Ofte (30–79 %) | I 1 tilstand |
| NUP62nucleoporin 62 | Ofte (30–79 %) | I 2 tilstander |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| PDE2Aphosphodiesterase 2A | Ofte (30–79 %) | I 1 tilstand |
| PEX7peroxisomal biogenesis factor 7 | Ofte (30–79 %) | I 1 tilstand |
| PGBD5piggyBac transposable element derived 5 | Ofte (30–79 %) | I 1 tilstand |
| PHYHphytanoyl-CoA 2-hydroxylase | Ofte (30–79 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Ofte (30–79 %) | I 1 tilstand |
| POLGDNA polymerase gamma, catalytic subunit | Ofte (30–79 %) | I 2 tilstander |
| POLR1ARNA polymerase I subunit A | Ofte (30–79 %) | I 2 tilstander |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Ofte (30–79 %) | I 2 tilstander |
| PTPMT1protein tyrosine phosphatase mitochondrial 1 | Ofte (30–79 %) | I 1 tilstand |
| PYCR2pyrroline-5-carboxylate reductase 2 | Ofte (30–79 %) | I 1 tilstand |
| RANBP2RAN binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Ofte (30–79 %) | I 2 tilstander |
| RNASEH2Aribonuclease H2 subunit A | Ofte (30–79 %) | I 1 tilstand |
| RNASEH2Bribonuclease H2 subunit B | Ofte (30–79 %) | I 1 tilstand |
| RNASEH2Cribonuclease H2 subunit C | Ofte (30–79 %) | I 1 tilstand |
| RNU7-1RNA, U7 small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| SAMHD1SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 | Ofte (30–79 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Ofte (30–79 %) | I 3 tilstander |
| SLC1A2solute carrier family 1 member 2 | Ofte (30–79 %) | I 2 tilstander |
| SLC38A3solute carrier family 38 member 3 | Ofte (30–79 %) | I 1 tilstand |
| SLC39A14solute carrier family 39 member 14 | Ofte (30–79 %) | I 2 tilstander |
| SONSON DNA and RNA binding protein | Ofte (30–79 %) | I 2 tilstander |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ofte (30–79 %) | I 3 tilstander |
| SYNJ1synaptojanin 1 | Ofte (30–79 %) | I 1 tilstand |
| SZT2SZT2 subunit of KICSTOR complex | Ofte (30–79 %) | I 1 tilstand |
| TBC1D2BTBC1 domain family member 2B | Ofte (30–79 %) | I 1 tilstand |
| TBCDtubulin folding cofactor D | Ofte (30–79 %) | I 2 tilstander |
| TBCEtubulin folding cofactor E | Ofte (30–79 %) | I 1 tilstand |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 2 tilstander |
| TRAK1trafficking kinesin protein 1 | Ofte (30–79 %) | I 2 tilstander |
| TREX1three prime repair exonuclease 1 | Ofte (30–79 %) | I 1 tilstand |
| UBA5ubiquitin like modifier activating enzyme 5 | Ofte (30–79 %) | I 1 tilstand |
| UFSP2UFM1 specific peptidase 2 | Ofte (30–79 %) | I 1 tilstand |
| WASF1WASP family member 1 | Ofte (30–79 %) | I 1 tilstand |
| YWHAGtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma | Ofte (30–79 %) | I 1 tilstand |
| AAASaladin WD repeat nucleoporin | Noen ganger (5–29 %) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Noen ganger (5–29 %) | I 1 tilstand |
| ADNPactivity dependent neuroprotector homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| AMNamnion associated transmembrane protein | Noen ganger (5–29 %) | I 1 tilstand |
| ASAH1N-acylsphingosine amidohydrolase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ASCC3activating signal cointegrator 1 complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| ATMATM serine/threonine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Noen ganger (5–29 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| BMPR1Abone morphogenetic protein receptor type 1A | Noen ganger (5–29 %) | I 1 tilstand |
| BORCS8BLOC-1 related complex subunit 8 | Noen ganger (5–29 %) | I 1 tilstand |
| BRCA2BRCA2 DNA repair associated | Noen ganger (5–29 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| C4Acomplement C4A (Chido/Rodgers blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Noen ganger (5–29 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| CCR1C-C motif chemokine receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CD40LGCD40 ligand | Noen ganger (5–29 %) | I 1 tilstand |
| CHEK2checkpoint kinase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CHMP1Acharged multivesicular body protein 1A | Noen ganger (5–29 %) | I 1 tilstand |
| CICcapicua transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| CISD2CDGSH iron sulfur domain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CPA6carboxypeptidase A6 | Noen ganger (5–29 %) | I 1 tilstand |
| CUBNcubilin | Noen ganger (5–29 %) | I 1 tilstand |
| CUX2cut like homeobox 2 | Noen ganger (5–29 %) | I 2 tilstander |
| DMXL2Dmx like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Noen ganger (5–29 %) | I 1 tilstand |
| DNMT3ADNA methyltransferase 3 alpha | Noen ganger (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Noen ganger (5–29 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Noen ganger (5–29 %) | I 1 tilstand |
| ELNelastin | Noen ganger (5–29 %) | I 1 tilstand |
| EPCAMepithelial cell adhesion molecule | Noen ganger (5–29 %) | I 1 tilstand |
| ERAP1endoplasmic reticulum aminopeptidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| FASFas cell surface death receptor | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Noen ganger (5–29 %) | I 2 tilstander |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Noen ganger (5–29 %) | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Noen ganger (5–29 %) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Noen ganger (5–29 %) | I 1 tilstand |
| GAMTguanidinoacetate N-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| GCDHglutaryl-CoA dehydrogenase | Noen ganger (5–29 %) | I 2 tilstander |
| GLAgalactosidase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| GLRX5glutaredoxin 5 | Noen ganger (5–29 %) | I 1 tilstand |
| GMPPAGDP-mannose pyrophosphorylase A | Noen ganger (5–29 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNB1G protein subunit beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Noen ganger (5–29 %) | I 2 tilstander |
| GRM7glutamate metabotropic receptor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| HLA-Bmajor histocompatibility complex, class I, B | Noen ganger (5–29 %) | I 1 tilstand |
| IFNGR1interferon gamma receptor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL10interleukin 10 | Noen ganger (5–29 %) | I 1 tilstand |
| IL12Ainterleukin 12A | Noen ganger (5–29 %) | I 1 tilstand |
| IL12A-AS1IL12A antisense RNA 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IL23Rinterleukin 23 receptor | Noen ganger (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Noen ganger (5–29 %) | I 1 tilstand |
| KICS2KICSTOR subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KLRC4killer cell lectin like receptor C4 | Noen ganger (5–29 %) | I 1 tilstand |
| KRASKRas proto-oncogene, GTPase | Noen ganger (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LIMK1LIM domain kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAPK10mitogen-activated protein kinase 10 | Noen ganger (5–29 %) | I 1 tilstand |
| MAU2MAU2 sister chromatid cohesion factor | Noen ganger (5–29 %) | I 1 tilstand |
| MEFVMEFV innate immunity regulator, pyrin | Noen ganger (5–29 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Noen ganger (5–29 %) | I 1 tilstand |
| MLH1mutL homolog 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MSH2mutS homolog 2 | Noen ganger (5–29 %) | I 1 tilstand |
| MSH6mutS homolog 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-TKmitochondrially encoded tRNA-Lys (AAA/G) | 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 |
| MUTYHmutY DNA glycosylase | Noen ganger (5–29 %) | I 1 tilstand |
| NACC1nucleus accumbens associated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NBEAneurobeachin | Noen ganger (5–29 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NDPnorrin cystine knot growth factor NDP | Noen ganger (5–29 %) | I 1 tilstand |
| NDUFS2NADH:ubiquinone oxidoreductase core subunit S2 | Noen ganger (5–29 %) | I 1 tilstand |
| NEU1neuraminidase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NEUROD2neuronal differentiation 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NPATnuclear protein, coactivator of histone transcription | Noen ganger (5–29 %) | I 1 tilstand |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Noen ganger (5–29 %) | I 1 tilstand |
| PIGQphosphatidylinositol glycan anchor biosynthesis class Q | Noen ganger (5–29 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PLP1proteolipid protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PMS1PMS1 homolog 1, mismatch repair system component | Noen ganger (5–29 %) | I 1 tilstand |
| PMS2PMS1 homolog 2, mismatch repair system component | Noen ganger (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| POC1APOC1 centriolar protein A | Noen ganger (5–29 %) | I 1 tilstand |
| POLD1DNA polymerase delta 1, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POLEDNA polymerase epsilon, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RFC2replication factor C subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS20ribosomal protein S20 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Noen ganger (5–29 %) | I 1 tilstand |
| SATB1SATB homeobox 1 | Noen ganger (5–29 %) | I 2 tilstander |
| SEMA4Asemaphorin 4A | Noen ganger (5–29 %) | I 1 tilstand |
| SGPL1sphingosine-1-phosphate lyase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC4A10solute carrier family 4 member 10 | Noen ganger (5–29 %) | I 1 tilstand |
| SNF8SNF8 subunit of ESCRT-II | Noen ganger (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Noen ganger (5–29 %) | I 1 tilstand |
| STAT4signal transducer and activator of transcription 4 | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Asyntaxin 1A | Noen ganger (5–29 %) | I 1 tilstand |
| STX1Bsyntaxin 1B | Noen ganger (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Noen ganger (5–29 %) | I 2 tilstander |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TBL2transducin beta like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TCEAL1transcription elongation factor A like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TFE3transcription factor binding to IGHM enhancer 3 | Noen ganger (5–29 %) | I 1 tilstand |
| TGFBR2transforming growth factor beta receptor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TLR4toll like receptor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Noen ganger (5–29 %) | I 1 tilstand |
| TPK1thiamin pyrophosphokinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRAPPC11trafficking protein particle complex subunit 11 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TTPAalpha tocopherol transfer protein | Noen ganger (5–29 %) | I 1 tilstand |
| UBAC2UBA domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Noen ganger (5–29 %) | I 1 tilstand |
| UGP2UDP-glucose pyrophosphorylase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS37DVPS37D subunit of ESCRT-I | Noen ganger (5–29 %) | I 1 tilstand |
| WFS1wolframin ER transmembrane glycoprotein | Noen ganger (5–29 %) | I 1 tilstand |
| WLSWnt ligand secretion mediator | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF699zinc finger protein 699 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC19DnaJ heat shock protein family (Hsp40) member C19 | Sjelden (1–4%) | I 1 tilstand |
| DPYSdihydropyrimidinase | Sjelden (1–4%) | I 1 tilstand |
| FBXW7F-box and WD repeat domain containing 7 | Sjelden (1–4%) | I 1 tilstand |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Sjelden (1–4%) | I 1 tilstand |
| MMACHCmetabolism of cobalamin associated C | Sjelden (1–4%) | I 1 tilstand |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Sjelden (1–4%) | I 1 tilstand |
| AGAaspartylglucosaminidase | Ikke registrert | I 1 tilstand |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Ikke registrert | I 1 tilstand |
| ASPAaspartoacylase | Ikke registrert | I 1 tilstand |
| BSCL2BSCL2 lipid droplet biogenesis associated, seipin | Ikke registrert | I 1 tilstand |
| CLN5CLN5 lysosomal BMP synthase | Ikke registrert | I 1 tilstand |
| COASYCoenzyme A synthase | Ikke registrert | I 1 tilstand |
| EIF2B1eukaryotic translation initiation factor 2B subunit alpha | Ikke registrert | I 1 tilstand |
| FITM2fat storage inducing transmembrane protein 2 | Ikke registrert | I 1 tilstand |
| FOLR1folate receptor alpha | Ikke registrert | I 1 tilstand |
| GFAPglial fibrillary acidic protein | Ikke registrert | I 1 tilstand |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Ikke registrert | I 1 tilstand |
| HACE1HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Ikke registrert | I 1 tilstand |
| KCNT2potassium sodium-activated channel subfamily T member 2 | Ikke registrert | I 1 tilstand |
| L2HGDHL-2-hydroxyglutarate dehydrogenase | Ikke registrert | I 1 tilstand |
| MRPS34mitochondrial ribosomal protein S34 | Ikke registrert | I 1 tilstand |
| NARS2asparaginyl-tRNA synthetase 2, mitochondrial | Ikke registrert | I 1 tilstand |
| NDUFS4NADH:ubiquinone oxidoreductase subunit S4 | Ikke registrert | I 1 tilstand |
| NDUFS7NADH:ubiquinone oxidoreductase core subunit S7 | Ikke registrert | I 1 tilstand |
| NDUFV2NADH:ubiquinone oxidoreductase core subunit V2 | Ikke registrert | I 1 tilstand |
| NRXN1neurexin 1 | Ikke registrert | I 1 tilstand |
| PIGTphosphatidylinositol glycan anchor biosynthesis class T | Ikke registrert | I 1 tilstand |
| SEMA6Bsemaphorin 6B | Ikke registrert | I 1 tilstand |
| SIN3ASIN3 transcription regulator family member A | Ikke registrert | I 1 tilstand |
| SLC25A42solute carrier family 25 member 42 | Ikke registrert | I 1 tilstand |
| TPP1tripeptidyl peptidase 1 | Ikke registrert | I 1 tilstand |
| TUFMTu translation elongation factor, mitochondrial | Ikke registrert | I 1 tilstand |
| VAC14VAC14 component of PIKFYVE complex | 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.
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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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