Cecha
Absent speech development
Nazwa kliniczna: Absent speech
Complete lack of development of speech and language abilities.
Podsumowanie
- Znana także jako
- Lack of language development, Lack of speech, No speech development, No speech or language development, Nonverbal
- Układ organizmu
- Abnormality of the nervous system
Genom referencyjnyGRCh38hg38
Pozycje na stronach genów i wariantów zależą od tego wyboru, w tej przeglądarce.
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Zamawiam Genome Test482 genów powiązanych z Absent speech development
Zmiany w tych genach powodują rzadkie choroby, w których występuje Absent speech development. Większość osób z tą cechą nie ma żadnej z tych chorób, a gen z tej listy nic nie mówi o czyimkolwiek własnym genomie.
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ABHD16Aabhydrolase domain containing 16A, phospholipase | Zawsze | W 1 chorobie |
| ACTL6Bactin like 6B | Zawsze | W 2 chorobach |
| AFG2AAAA ATPase AFG2A | Zawsze | W 2 chorobach |
| AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1 | Zawsze | W 1 chorobie |
| AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2 | Zawsze | W 1 chorobie |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Zawsze | W 2 chorobach |
| ALG14ALG14 UDP-N-acetylglucosaminyltransferase subunit | Zawsze | W 1 chorobie |
| ARFGEF1ARF guanine nucleotide exchange factor 1 | Zawsze | W 1 chorobie |
| ARID2AT-rich interaction domain 2 | Zawsze | W 2 chorobach |
| ARL13BARF like GTPase 13B | Zawsze | W 1 chorobie |
| ASH1LASH1 like histone lysine methyltransferase | Zawsze | W 1 chorobie |
| ATP6V0CATPase H+ transporting V0 subunit c | Zawsze | W 1 chorobie |
| ATP9AATPase phospholipid transporting 9A | Zawsze | W 1 chorobie |
| BORCS8BLOC-1 related complex subunit 8 | Zawsze | W 1 chorobie |
| CACNA2D1calcium voltage-gated channel auxiliary subunit alpha2delta 1 | Zawsze | W 1 chorobie |
| CACNA2D2calcium voltage-gated channel auxiliary subunit alpha2delta 2 | Zawsze | W 1 chorobie |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Zawsze | W 2 chorobach |
| CASKcalcium/calmodulin dependent serine protein kinase | Zawsze | W 2 chorobach |
| CCDC88Acoiled-coil and HOOK domain protein 88A | Zawsze | W 1 chorobie |
| CCT3chaperonin containing TCP1 subunit 3 | Zawsze | W 1 chorobie |
| CHKAcholine kinase alpha | Zawsze | W 1 chorobie |
| CLCN3Cl-/H+ antiporter 3 | Zawsze | W 2 chorobach |
| COG4component of oligomeric golgi complex 4 | Zawsze | W 2 chorobach |
| COG8component of oligomeric golgi complex 8 | Zawsze | W 1 chorobie |
| COL4A2collagen type IV alpha 2 chain | Zawsze | W 1 chorobie |
| CPLX1complexin 1 | Zawsze | W 1 chorobie |
| CYFIP2cytoplasmic FMR1 interacting protein 2 | Zawsze | W 1 chorobie |
| DAG1dystroglycan 1 | Zawsze | W 2 chorobach |
| DALRD3DALR anticodon binding domain containing 3 | Zawsze | W 1 chorobie |
| DARS2aspartyl-tRNA synthetase 2, mitochondrial | Zawsze | W 2 chorobach |
| DCAF17DDB1 and CUL4 associated factor 17 | Zawsze | W 1 chorobie |
| DEAF1DEAF1 transcription factor | Zawsze | W 2 chorobach |
| DNM1dynamin 1 | Zawsze | W 1 chorobie |
| DOT1LDOT1 like histone lysine methyltransferase | Zawsze | W 1 chorobie |
| DPH5diphthamide biosynthesis 5 | Zawsze | W 1 chorobie |
| EBPEBP cholestenol delta-isomerase | Zawsze | W 1 chorobie |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Zawsze | W 2 chorobach |
| EIF4A2eukaryotic translation initiation factor 4A2 | Zawsze | W 1 chorobie |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Zawsze | W 1 chorobie |
| ELP2elongator acetyltransferase complex subunit 2 | Zawsze | W 1 chorobie |
Pokaż jeszcze 442 genów
| Gen | Jak często występuje | Choroby |
|---|---|---|
| ERLIN2ER lipid raft associated 2 | Zawsze | W 3 chorobach |
| FKRPfukutin related protein | Zawsze | W 1 chorobie |
| FKTNfukutin | Zawsze | W 1 chorobie |
| FOXG1forkhead box G1 | Zawsze | W 2 chorobach |
| FOXRED1FAD dependent oxidoreductase domain containing 1 | Zawsze | W 1 chorobie |
| FRRS1Lferric chelate reductase 1 like | Zawsze | W 1 chorobie |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Zawsze | W 2 chorobach |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Zawsze | W 1 chorobie |
| GATMglycine amidinotransferase | Zawsze | W 1 chorobie |
| GET4guided entry of tail-anchored proteins factor 4 | Zawsze | W 1 chorobie |
| GNAO1G protein subunit alpha o1 | Zawsze | W 2 chorobach |
| GPT2glutamic--pyruvic transaminase 2 | Zawsze | W 1 chorobie |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Zawsze | W 2 chorobach |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Zawsze | W 2 chorobach |
| GRIN2Bglutamate ionotropic receptor NMDA type subunit 2B | Zawsze | W 1 chorobie |
| GRM1glutamate metabotropic receptor 1 | Zawsze | W 2 chorobach |
| GSX2GS homeobox 2 | Zawsze | W 1 chorobie |
| H4C11H4 clustered histone 11 | Zawsze | W 1 chorobie |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Zawsze | W 1 chorobie |
| HID1HID1 domain containing | Zawsze | W 1 chorobie |
| HIVEP2HIVEP zinc finger 2 | Zawsze | W 1 chorobie |
| IFT140intraflagellar transport 140 | Zawsze | W 1 chorobie |
| IKZF2IKAROS family zinc finger 2 | Zawsze | W 1 chorobie |
| INPP4Ainositol polyphosphate-4-phosphatase type I A | Zawsze | W 1 chorobie |
| INTS1integrator complex subunit 1 | Zawsze | W 1 chorobie |
| INTS8integrator complex subunit 8 | Zawsze | W 1 chorobie |
| IREB2iron responsive element binding protein 2 | Zawsze | W 1 chorobie |
| IRF2BPLinterferon regulatory factor 2 binding protein like | Zawsze | W 1 chorobie |
| ISCA2iron-sulfur cluster assembly 2 | Zawsze | W 1 chorobie |
| JKAMPJNK1/MAPK8 associated membrane protein | Zawsze | W 1 chorobie |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Zawsze | W 1 chorobie |
| KCNK3potassium two pore domain channel subfamily K member 3 | Zawsze | W 1 chorobie |
| KCTD7potassium channel tetramerization domain containing 7 | Zawsze | W 1 chorobie |
| KDM2Blysine demethylase 2B | Zawsze | W 1 chorobie |
| KIF5Ckinesin family member 5C | Zawsze | W 1 chorobie |
| KLHL15kelch like family member 15 | Zawsze | W 1 chorobie |
| KLHL20kelch like family member 20 | Zawsze | W 1 chorobie |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Zawsze | W 1 chorobie |
| LGI1leucine rich glioma inactivated 1 | Zawsze | W 1 chorobie |
| LINS1lines homolog 1 | Zawsze | W 1 chorobie |
| LIPT2lipoyl(octanoyl) transferase 2 | Zawsze | W 1 chorobie |
| MAB21L1mab-21 like 1 | Zawsze | W 1 chorobie |
| MCCC1methylcrotonyl-CoA carboxylase subunit 1 | Zawsze | W 1 chorobie |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Zawsze | W 1 chorobie |
| MDH2malate dehydrogenase 2 | Zawsze | W 1 chorobie |
| MECP2methyl-CpG binding protein 2 | Zawsze | W 3 chorobach |
| MED16mediator complex subunit 16 | Zawsze | W 1 chorobie |
| MED23mediator complex subunit 23 | Zawsze | W 1 chorobie |
| MEF2Cmyocyte enhancer factor 2C | Zawsze | W 1 chorobie |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Zawsze | W 1 chorobie |
| MINPP1multiple inositol-polyphosphate phosphatase 1 | Zawsze | W 1 chorobie |
| MKS1MKS transition zone complex subunit 1 | Zawsze | W 1 chorobie |
| MMADHCmetabolism of cobalamin associated D | Zawsze | W 1 chorobie |
| MRPL12mitochondrial ribosomal protein L12 | Zawsze | W 1 chorobie |
| NALCNsodium leak channel, non-selective | Zawsze | W 1 chorobie |
| NCAPD2non-SMC condensin I complex subunit D2 | Zawsze | W 1 chorobie |
| NEXMIFneurite extension and migration factor | Zawsze | W 2 chorobach |
| NSD1nuclear receptor binding SET domain protein 1 | Zawsze | W 1 chorobie |
| NSUN2NOP2/Sun RNA methyltransferase 2 | Zawsze | W 1 chorobie |
| OFD1OFD1 centriole and centriolar satellite protein | Zawsze | W 1 chorobie |
| PARS2prolyl-tRNA synthetase 2, mitochondrial | Zawsze | W 1 chorobie |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Zawsze | W 1 chorobie |
| PI4K2Aphosphatidylinositol 4-kinase type 2 alpha | Zawsze | W 1 chorobie |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Zawsze | W 2 chorobach |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Zawsze | W 1 chorobie |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Zawsze | W 1 chorobie |
| PLAAphospholipase A2 activating protein | Zawsze | W 1 chorobie |
| PMPCBpeptidase, mitochondrial processing subunit beta | Zawsze | W 1 chorobie |
| POMT1protein O-mannosyltransferase 1 | Zawsze | W 2 chorobach |
| POMT2protein O-mannosyltransferase 2 | Zawsze | W 1 chorobie |
| POT1protection of telomeres 1 | Zawsze | W 1 chorobie |
| PRUNE1prune exopolyphosphatase 1 | Zawsze | W 2 chorobach |
| PSMB1proteasome 20S subunit beta 1 | Zawsze | W 1 chorobie |
| PSMC1proteasome 26S subunit, ATPase 1 | Zawsze | W 1 chorobie |
| PURApurine rich element binding protein A | Zawsze | W 1 chorobie |
| RAB11BRAB11B, member RAS oncogene family | Zawsze | W 1 chorobie |
| RAB3GAP2RAB3 GTPase activating non-catalytic protein subunit 2 | Zawsze | W 1 chorobie |
| RAB5IFRAB5 interacting factor | Zawsze | W 1 chorobie |
| RALGAPA1Ral GTPase activating protein catalytic subunit alpha 1 | Zawsze | W 1 chorobie |
| RBSNrabenosyn, RAB effector | Zawsze | W 1 chorobie |
| SATB1SATB homeobox 1 | Zawsze | W 1 chorobie |
| SEL1LSEL1L adaptor subunit of SYVN1 ubiquitin ligase | Zawsze | W 2 chorobach |
| SHQ1SHQ1, H/ACA ribonucleoprotein assembly factor | Zawsze | W 1 chorobie |
| SIK1salt inducible kinase 1 | Zawsze | W 1 chorobie |
| SLC12A2solute carrier family 12 member 2 | Zawsze | W 2 chorobach |
| SLC13A5solute carrier family 13 member 5 | Zawsze | W 1 chorobie |
| SLC1A4solute carrier family 1 member 4 | Zawsze | W 1 chorobie |
| SLC25A12solute carrier family 25 member 12 | Zawsze | W 1 chorobie |
| SLC33A1solute carrier family 33 member 1 | Zawsze | W 1 chorobie |
| SLC35A2solute carrier family 35 member A2 | Zawsze | W 1 chorobie |
| SLC38A3solute carrier family 38 member 3 | Zawsze | W 1 chorobie |
| SLC9A6solute carrier family 9 member A6 | Zawsze | W 2 chorobach |
| SMC1Astructural maintenance of chromosomes 1A | Zawsze | W 2 chorobach |
| SOD1superoxide dismutase 1 | Zawsze | W 1 chorobie |
| SPTBN4spectrin beta, non-erythrocytic 4 | Zawsze | W 1 chorobie |
| STILSTIL centriolar assembly protein | Zawsze | W 5 chorobach |
| SUOXsulfite oxidase | Zawsze | W 1 chorobie |
| SUPT7LSPT7 like, STAGA complex subunit gamma | Zawsze | W 1 chorobie |
| TANGO2transport and golgi organization 2 homolog | Zawsze | W 1 chorobie |
| TFE3transcription factor binding to IGHM enhancer 3 | Zawsze | W 1 chorobie |
| TM2D3TM2 domain containing 3 | Zawsze | W 1 chorobie |
| TMEM231transmembrane protein 231 | Zawsze | W 1 chorobie |
| TRAPPC2Ltrafficking protein particle complex subunit 2L | Zawsze | W 1 chorobie |
| TREX1three prime repair exonuclease 1 | Zawsze | W 1 chorobie |
| UBE3Aubiquitin protein ligase E3A | Zawsze | W 3 chorobach |
| UBE3Bubiquitin protein ligase E3B | Zawsze | W 1 chorobie |
| UBTFupstream binding transcription factor | Zawsze | W 2 chorobach |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Zawsze | W 1 chorobie |
| UGP2UDP-glucose pyrophosphorylase 2 | Zawsze | W 1 chorobie |
| UNC13Aunc-13 homolog A | Zawsze | W 2 chorobach |
| UNC80unc-80 subunit of NALCN channel complex | Zawsze | W 1 chorobie |
| VARS1valyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Zawsze | W 2 chorobach |
| WARS1tryptophanyl-tRNA synthetase 1 | Zawsze | W 1 chorobie |
| WARS2tryptophanyl tRNA synthetase 2, mitochondrial | Zawsze | W 3 chorobach |
| WDR37WD repeat domain 37 | Zawsze | W 1 chorobie |
| WDR4WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit | Zawsze | W 1 chorobie |
| WSB2WD repeat and SOCS box containing 2 | Zawsze | W 1 chorobie |
| ADSLadenylosuccinate lyase | Bardzo często (80–99%) | W 1 chorobie |
| ASPAaspartoacylase | Bardzo często (80–99%) | W 1 chorobie |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Bardzo często (80–99%) | W 1 chorobie |
| CASZ1castor zinc finger 1 | Bardzo często (80–99%) | W 1 chorobie |
| CUL4Bcullin 4B | Bardzo często (80–99%) | W 2 chorobach |
| DHX30DExH-box helicase 30 | Bardzo często (80–99%) | W 1 chorobie |
| DOHHdeoxyhypusine hydroxylase | Bardzo często (80–99%) | W 1 chorobie |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Bardzo często (80–99%) | W 1 chorobie |
| GTPBP2GTP binding protein 2 | Bardzo często (80–99%) | W 1 chorobie |
| HSPG2heparan sulfate proteoglycan 2 | Bardzo często (80–99%) | W 1 chorobie |
| KARS1lysyl-tRNA synthetase 1 | Bardzo często (80–99%) | W 2 chorobach |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Bardzo często (80–99%) | W 1 chorobie |
| KDM5Alysine demethylase 5A | Bardzo często (80–99%) | W 1 chorobie |
| LUZP1leucine zipper protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| MAST1microtubule associated serine/threonine kinase 1 | Bardzo często (80–99%) | W 1 chorobie |
| MCOLN1mucolipin TRP cation channel 1 | Bardzo często (80–99%) | W 2 chorobach |
| MMP23Bmatrix metallopeptidase 23B | Bardzo często (80–99%) | W 1 chorobie |
| PDPNpodoplanin | Bardzo często (80–99%) | W 1 chorobie |
| PPFIBP1PPFIB scaffold protein 1 | Bardzo często (80–99%) | W 1 chorobie |
| PPIL1peptidylprolyl isomerase like 1 | Bardzo często (80–99%) | W 1 chorobie |
| PPP2R1Aprotein phosphatase 2 scaffold subunit Aalpha | Bardzo często (80–99%) | W 2 chorobach |
| PRDM16PR/SET domain 16 | Bardzo często (80–99%) | W 1 chorobie |
| PRKCZprotein kinase C zeta | Bardzo często (80–99%) | W 1 chorobie |
| PYCR2pyrroline-5-carboxylate reductase 2 | Bardzo często (80–99%) | W 2 chorobach |
| REREarginine-glutamic acid dipeptide repeats | Bardzo często (80–99%) | W 1 chorobie |
| RNU2-2RNA, U2 small nuclear 2 | Bardzo często (80–99%) | W 1 chorobie |
| RNU4-2RNA, U4 small nuclear 2 | Bardzo często (80–99%) | W 1 chorobie |
| SATB2SATB homeobox 2 | Bardzo często (80–99%) | W 2 chorobach |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Bardzo często (80–99%) | W 1 chorobie |
| SKISKI proto-oncogene | Bardzo często (80–99%) | W 1 chorobie |
| SPENspen family transcriptional repressor | Bardzo często (80–99%) | W 2 chorobach |
| SYT1synaptotagmin 1 | Bardzo często (80–99%) | W 2 chorobach |
| TCF4transcription factor 4 | Bardzo często (80–99%) | W 2 chorobach |
| TRIM8tripartite motif containing 8 | Bardzo często (80–99%) | W 1 chorobie |
| TUBA8tubulin alpha 8 | Bardzo często (80–99%) | W 1 chorobie |
| UBA5ubiquitin like modifier activating enzyme 5 | Bardzo często (80–99%) | W 1 chorobie |
| UBE4Bubiquitination factor E4B | Bardzo często (80–99%) | W 1 chorobie |
| ZEB2zinc finger E-box binding homeobox 2 | Bardzo często (80–99%) | W 3 chorobach |
| ZSWIM6zinc finger SWIM-type containing 6 | Bardzo często (80–99%) | W 1 chorobie |
| ADARB1adenosine deaminase RNA specific B1 | Często (30–79%) | W 1 chorobie |
| AGTPBP1ATP/GTP binding carboxypeptidase 1 | Często (30–79%) | W 1 chorobie |
| AHDC1AT-hook DNA binding motif containing 1 | Często (30–79%) | W 1 chorobie |
| AMPD2adenosine monophosphate deaminase 2 | Często (30–79%) | W 1 chorobie |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Często (30–79%) | W 1 chorobie |
| AP3B2adaptor related protein complex 3 subunit beta 2 | Często (30–79%) | W 1 chorobie |
| ASXL3ASXL transcriptional regulator 3 | Często (30–79%) | W 2 chorobach |
| ATN1atrophin 1 | Często (30–79%) | W 1 chorobie |
| ATP5F1AATP synthase F1 subunit alpha | Często (30–79%) | W 1 chorobie |
| ATP6V1AATPase H+ transporting V1 subunit A | Często (30–79%) | W 1 chorobie |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Często (30–79%) | W 1 chorobie |
| CACNA1Icalcium voltage-gated channel subunit alpha1 I | Często (30–79%) | W 1 chorobie |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Często (30–79%) | W 1 chorobie |
| CDONcell adhesion associated, oncogene regulated | Często (30–79%) | W 4 chorobach |
| CHAMP1chromosome alignment maintaining phosphoprotein 1 | Często (30–79%) | W 1 chorobie |
| CLIC2CLIC family member 2 | Często (30–79%) | W 1 chorobie |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Często (30–79%) | W 1 chorobie |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Często (30–79%) | W 1 chorobie |
| CNNM2cyclin and CBS domain divalent metal cation transport mediator 2 | Często (30–79%) | W 1 chorobie |
| COG3component of oligomeric golgi complex 3 | Często (30–79%) | W 1 chorobie |
| COPB1coat protein complex I subunit beta 1 | Często (30–79%) | W 1 chorobie |
| CPAPcentrosome assembly and centriole elongation protein | Często (30–79%) | W 1 chorobie |
| CRIPTOcripto, EGF-CFC family member | Często (30–79%) | W 4 chorobach |
| CTNNA2catenin alpha 2 | Często (30–79%) | W 1 chorobie |
| DCPSdecapping enzyme, scavenger | Często (30–79%) | W 1 chorobie |
| DEGS1delta 4-desaturase, sphingolipid 1 | Często (30–79%) | W 1 chorobie |
| DENND5ADENN domain containing 5A | Często (30–79%) | W 1 chorobie |
| DISP1dispatched RND transporter family member 1 | Często (30–79%) | W 4 chorobach |
| DLL1delta like canonical Notch ligand 1 | Często (30–79%) | W 4 chorobach |
| DNM1Ldynamin 1L | Często (30–79%) | W 1 chorobie |
| DOCK3dedicator of cytokinesis 3 | Często (30–79%) | W 1 chorobie |
| DOCK7dedicator of cytokinesis 7 | Często (30–79%) | W 1 chorobie |
| DPM2dolichyl-phosphate mannosyltransferase subunit 2, regulatory | Często (30–79%) | W 1 chorobie |
| DPYSL5dihydropyrimidinase like 5 | Często (30–79%) | W 1 chorobie |
| DYMdymeclin | Często (30–79%) | W 1 chorobie |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Często (30–79%) | W 2 chorobach |
| EARS2glutamyl-tRNA synthetase 2, mitochondrial | Często (30–79%) | W 1 chorobie |
| EIF2AK2eukaryotic translation initiation factor 2 alpha kinase 2 | Często (30–79%) | W 1 chorobie |
| EXOSC5exosome component 5 | Często (30–79%) | W 1 chorobie |
| FGF12fibroblast growth factor 12 | Często (30–79%) | W 1 chorobie |
| FGF13fibroblast growth factor 13 | Często (30–79%) | W 1 chorobie |
| FGF8fibroblast growth factor 8 | Często (30–79%) | W 4 chorobach |
| FGFR1fibroblast growth factor receptor 1 | Często (30–79%) | W 2 chorobach |
| FOXH1forkhead box H1 | Często (30–79%) | W 4 chorobach |
| FRA10AC1FRA10A associated CGG repeat 1 | Często (30–79%) | W 1 chorobie |
| FRMD4AFERM domain containing 4A | Często (30–79%) | W 2 chorobach |
| FRMPD4FERM and PDZ domain containing 4 | Często (30–79%) | W 1 chorobie |
| GAMTguanidinoacetate N-methyltransferase | Często (30–79%) | W 1 chorobie |
| GAS1growth arrest specific 1 | Często (30–79%) | W 4 chorobach |
| GCDHglutaryl-CoA dehydrogenase | Często (30–79%) | W 1 chorobie |
| GEMIN4gem nuclear organelle associated protein 4 | Często (30–79%) | W 1 chorobie |
| GFM2GTP dependent ribosome recycling factor mitochondrial 2 | Często (30–79%) | W 1 chorobie |
| GLI2GLI family zinc finger 2 | Często (30–79%) | W 4 chorobach |
| GNAI1G protein subunit alpha i1 | Często (30–79%) | W 1 chorobie |
| GNB5G protein subunit beta 5 | Często (30–79%) | W 2 chorobach |
| GOT2glutamic-oxaloacetic transaminase 2 | Często (30–79%) | W 1 chorobie |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Często (30–79%) | W 1 chorobie |
| GRIA4glutamate ionotropic receptor AMPA type subunit 4 | Często (30–79%) | W 1 chorobie |
| HDAC4histone deacetylase 4 | Często (30–79%) | W 1 chorobie |
| HERC1HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 | Często (30–79%) | W 2 chorobach |
| HNRNPH1heterogeneous nuclear ribonucleoprotein H1 | Często (30–79%) | W 1 chorobie |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Często (30–79%) | W 1 chorobie |
| IARS1isoleucyl-tRNA synthetase 1 | Często (30–79%) | W 2 chorobach |
| IQSEC1IQ motif and Sec7 domain ArfGEF 1 | Często (30–79%) | W 1 chorobie |
| KAT6Alysine acetyltransferase 6A | Często (30–79%) | W 1 chorobie |
| KCNB1potassium voltage-gated channel subfamily B member 1 | Często (30–79%) | W 1 chorobie |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Często (30–79%) | W 1 chorobie |
| KCNQ5potassium voltage-gated channel subfamily Q member 5 | Często (30–79%) | W 1 chorobie |
| KICS2KICSTOR subunit 2 | Często (30–79%) | W 1 chorobie |
| KIF15kinesin family member 15 | Często (30–79%) | W 1 chorobie |
| LINGO1leucine rich repeat and Ig domain containing 1 | Często (30–79%) | W 1 chorobie |
| LNPKlunapark, ER junction formation factor | Często (30–79%) | W 1 chorobie |
| MACF1microtubule actin crosslinking factor 1 | Często (30–79%) | W 1 chorobie |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Często (30–79%) | W 1 chorobie |
| MED12mediator complex subunit 12 | Często (30–79%) | W 1 chorobie |
| MED25mediator complex subunit 25 | Często (30–79%) | W 1 chorobie |
| MFFmitochondrial fission factor | Często (30–79%) | W 1 chorobie |
| MRPS34mitochondrial ribosomal protein S34 | Często (30–79%) | W 1 chorobie |
| MSL3MSL complex subunit 3 | Często (30–79%) | W 1 chorobie |
| NAV3neuron navigator 3 | Często (30–79%) | W 1 chorobie |
| NCAPG2non-SMC condensin II complex subunit G2 | Często (30–79%) | W 1 chorobie |
| NFIXnuclear factor I X | Często (30–79%) | W 1 chorobie |
| NGLY1N-glycanase 1 | Często (30–79%) | W 1 chorobie |
| NODALnodal growth differentiation factor | Często (30–79%) | W 4 chorobach |
| NSRP1nuclear speckle splicing regulatory protein 1 | Często (30–79%) | W 1 chorobie |
| NTNG2netrin G2 | Często (30–79%) | W 1 chorobie |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Często (30–79%) | W 1 chorobie |
| OTUD6BOTU deubiquitinase 6B | Często (30–79%) | W 1 chorobie |
| PGAP1post-GPI attachment to proteins inositol deacylase 1 | Często (30–79%) | W 1 chorobie |
| PGAP2post-GPI attachment to proteins 2 | Często (30–79%) | W 1 chorobie |
| PIGFphosphatidylinositol glycan anchor biosynthesis class F | Często (30–79%) | W 1 chorobie |
| PLCH1phospholipase C eta 1 | Często (30–79%) | W 1 chorobie |
| PLK4polo like kinase 4 | Często (30–79%) | W 1 chorobie |
| PLP1proteolipid protein 1 | Często (30–79%) | W 1 chorobie |
| POLR1ARNA polymerase I subunit A | Często (30–79%) | W 1 chorobie |
| POLR3KRNA polymerase III subunit K | Często (30–79%) | W 1 chorobie |
| PPFIA3PPFI scaffold protein A3 | Często (30–79%) | W 1 chorobie |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Często (30–79%) | W 2 chorobach |
| PPP3CAprotein phosphatase 3 catalytic subunit alpha | Często (30–79%) | W 1 chorobie |
| PTCH1patched 1 | Często (30–79%) | W 4 chorobach |
| RAC1Rac family small GTPase 1 | Często (30–79%) | W 2 chorobach |
| RALARAS like proto-oncogene A | Często (30–79%) | W 1 chorobie |
| RHOBTB2Rho related BTB domain containing 2 | Często (30–79%) | W 1 chorobie |
| RNU5B-1RNA, U5B small nuclear 1 | Często (30–79%) | W 1 chorobie |
| RPL10ribosomal protein L10 | Często (30–79%) | W 1 chorobie |
| SETBP1SET binding protein 1 | Często (30–79%) | W 1 chorobie |
| SHHsonic hedgehog signaling molecule | Często (30–79%) | W 4 chorobach |
| SIX3SIX homeobox 3 | Często (30–79%) | W 4 chorobach |
| SLC12A6solute carrier family 12 member 6 | Często (30–79%) | W 1 chorobie |
| SLC35B2solute carrier family 35 member B2 | Często (30–79%) | W 1 chorobie |
| SLC4A10solute carrier family 4 member 10 | Często (30–79%) | W 1 chorobie |
| SLC6A1solute carrier family 6 member 1 | Często (30–79%) | W 1 chorobie |
| SLC6A11solute carrier family 6 member 11 | Często (30–79%) | W 1 chorobie |
| SLC6A17solute carrier family 6 member 17 | Często (30–79%) | W 1 chorobie |
| SLC6A3solute carrier family 6 member 3 | Często (30–79%) | W 1 chorobie |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Często (30–79%) | W 2 chorobach |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Często (30–79%) | W 2 chorobach |
| SNX14sorting nexin 14 | Często (30–79%) | W 2 chorobach |
| SPTSSAserine palmitoyltransferase small subunit A | Często (30–79%) | W 1 chorobie |
| STAG2STAG2 cohesin complex component | Często (30–79%) | W 2 chorobach |
| STXBP1syntaxin binding protein 1 | Często (30–79%) | W 2 chorobach |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Często (30–79%) | W 1 chorobie |
| SZT2SZT2 subunit of KICSTOR complex | Często (30–79%) | W 1 chorobie |
| TAF2TATA-box binding protein associated factor 2 | Często (30–79%) | W 1 chorobie |
| TBC1D20TBC1 domain family member 20 | Często (30–79%) | W 1 chorobie |
| TBCDtubulin folding cofactor D | Często (30–79%) | W 2 chorobach |
| TBCEtubulin folding cofactor E | Często (30–79%) | W 1 chorobie |
| TBCKTBC1 domain containing kinase | Często (30–79%) | W 1 chorobie |
| TELO2telomere maintenance 2 | Często (30–79%) | W 2 chorobach |
| TGIF1TGFB induced factor homeobox 1 | Często (30–79%) | W 4 chorobach |
| TKTtransketolase | Często (30–79%) | W 2 chorobach |
| TMEM147transmembrane protein 147 | Często (30–79%) | W 1 chorobie |
| TOR1Atorsin family 1 member A | Często (30–79%) | W 1 chorobie |
| TRAPPC10trafficking protein particle complex subunit 10 | Często (30–79%) | W 1 chorobie |
| TRAPPC11trafficking protein particle complex subunit 11 | Często (30–79%) | W 1 chorobie |
| TRAPPC6Btrafficking protein particle complex subunit 6B | Często (30–79%) | W 1 chorobie |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Często (30–79%) | W 1 chorobie |
| TTC5tetratricopeptide repeat domain 5 | Często (30–79%) | W 1 chorobie |
| TUBB2Atubulin beta 2A class IIa | Często (30–79%) | W 1 chorobie |
| UBE2Aubiquitin conjugating enzyme E2 A | Często (30–79%) | W 1 chorobie |
| UFSP2UFM1 specific peptidase 2 | Często (30–79%) | W 1 chorobie |
| VPS11VPS11 core subunit of CORVET and HOPS complexes | Często (30–79%) | W 2 chorobach |
| VPS41VPS41 subunit of HOPS complex | Często (30–79%) | W 1 chorobie |
| VPS4Avacuolar protein sorting 4 homolog A | Często (30–79%) | W 1 chorobie |
| WBP4WW domain binding protein 4 | Często (30–79%) | W 1 chorobie |
| WDR45WD repeat domain 45 | Często (30–79%) | W 1 chorobie |
| ZIC2Zic family zinc finger 2 | Często (30–79%) | W 4 chorobach |
| ACBD6acyl-CoA binding domain containing 6 | Czasami (5–29%) | W 1 chorobie |
| ADNPactivity dependent neuroprotector homeobox | Czasami (5–29%) | W 1 chorobie |
| ARID1AAT-rich interaction domain 1A | Czasami (5–29%) | W 1 chorobie |
| ARID1BAT-rich interaction domain 1B | Czasami (5–29%) | W 1 chorobie |
| ATG7autophagy related 7 | Czasami (5–29%) | W 1 chorobie |
| ATP10AATPase phospholipid transporting 10A (putative) | Czasami (5–29%) | W 1 chorobie |
| ATP1A2ATPase Na+/K+ transporting subunit alpha 2 | Czasami (5–29%) | W 1 chorobie |
| BCAS3BCAS3 microtubule associated cell migration factor | Czasami (5–29%) | W 1 chorobie |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| CDC42cell division cycle 42 | Czasami (5–29%) | W 2 chorobach |
| CLPBClpB family mitochondrial disaggregase | Czasami (5–29%) | W 1 chorobie |
| CLTCclathrin heavy chain | Czasami (5–29%) | W 1 chorobie |
| CNTNAP2contactin associated protein 2 | Czasami (5–29%) | W 2 chorobach |
| CRBNcereblon | Czasami (5–29%) | W 1 chorobie |
| CREBBPCREB binding lysine acetyltransferase | Czasami (5–29%) | W 2 chorobach |
| CSNK2A1casein kinase 2 alpha 1 | Czasami (5–29%) | W 1 chorobie |
| CSPP1centrosome and spindle pole associated protein 1 | Czasami (5–29%) | W 1 chorobie |
| DOLKdolichol kinase | Czasami (5–29%) | W 1 chorobie |
| DPF2double PHD fingers 2 | Czasami (5–29%) | W 1 chorobie |
| DPYDdihydropyrimidine dehydrogenase | Czasami (5–29%) | W 1 chorobie |
| EHMT1euchromatic histone lysine methyltransferase 1 | Czasami (5–29%) | W 1 chorobie |
| EIF3Feukaryotic translation initiation factor 3 subunit F | Czasami (5–29%) | W 1 chorobie |
| EP300EP300 lysine acetyltransferase | Czasami (5–29%) | W 1 chorobie |
| EXTL3exostosin like glycosyltransferase 3 | Czasami (5–29%) | W 1 chorobie |
| FARS2phenylalanyl-tRNA synthetase 2, mitochondrial | Czasami (5–29%) | W 1 chorobie |
| FTH1ferritin heavy chain 1 | Czasami (5–29%) | W 1 chorobie |
| GMPPBGDP-mannose pyrophosphorylase B | Czasami (5–29%) | W 1 chorobie |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Czasami (5–29%) | W 1 chorobie |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Czasami (5–29%) | W 1 chorobie |
| HEPACAMhepatic and glial cell adhesion molecule | Czasami (5–29%) | W 1 chorobie |
| HIKESHIheat shock protein nuclear import factor hikeshi | Czasami (5–29%) | W 1 chorobie |
| HNRNPCheterogeneous nuclear ribonucleoprotein C | Czasami (5–29%) | W 1 chorobie |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Czasami (5–29%) | W 1 chorobie |
| HSD17B10hydroxysteroid 17-beta dehydrogenase 10 | Czasami (5–29%) | W 1 chorobie |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Czasami (5–29%) | W 1 chorobie |
| KCNJ10potassium inwardly rectifying channel subfamily J member 10 | Czasami (5–29%) | W 1 chorobie |
| KCNT1potassium sodium-activated channel subfamily T member 1 | Czasami (5–29%) | W 1 chorobie |
| KIAA0586KIAA0586 | Czasami (5–29%) | W 1 chorobie |
| KIF1Akinesin family member 1A | Czasami (5–29%) | W 1 chorobie |
| KMT5Blysine methyltransferase 5B | Czasami (5–29%) | W 1 chorobie |
| LAS1LLAS1 like ribosome biogenesis factor | Czasami (5–29%) | W 1 chorobie |
| LMAN2Llectin, mannose binding 2 like | Czasami (5–29%) | W 1 chorobie |
| LMNB1lamin B1 | Czasami (5–29%) | W 1 chorobie |
| NDC1NDC1 transmembrane nucleoporin | Czasami (5–29%) | W 1 chorobie |
| NOTCH3notch receptor 3 | Czasami (5–29%) | W 1 chorobie |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Czasami (5–29%) | W 1 chorobie |
| OCA2OCA2 melanosomal transmembrane protein | Czasami (5–29%) | W 1 chorobie |
| ODC1ornithine decarboxylase 1 | Czasami (5–29%) | W 1 chorobie |
| OPHN1oligophrenin 1 | Czasami (5–29%) | W 1 chorobie |
| PACS1phosphofurin acidic cluster sorting protein 1 | Czasami (5–29%) | W 2 chorobach |
| PCGF2polycomb group ring finger 2 | Czasami (5–29%) | W 1 chorobie |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Czasami (5–29%) | W 2 chorobach |
| PNPT1polyribonucleotide nucleotidyltransferase 1 | Czasami (5–29%) | W 2 chorobach |
| POGZpogo transposable element derived with ZNF domain | Czasami (5–29%) | W 1 chorobie |
| POLRMTRNA polymerase mitochondrial | Czasami (5–29%) | W 1 chorobie |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Czasami (5–29%) | W 1 chorobie |
| PUS3pseudouridine synthase 3 | Czasami (5–29%) | W 1 chorobie |
| RAB18RAB18, member RAS oncogene family | Czasami (5–29%) | W 1 chorobie |
| RNU7-1RNA, U7 small nuclear 1 | Czasami (5–29%) | W 1 chorobie |
| SERAC1serine active site containing 1 | Czasami (5–29%) | W 2 chorobach |
| SHROOM4shroom family member 4 | Czasami (5–29%) | W 1 chorobie |
| SLC39A14solute carrier family 39 member 14 | Czasami (5–29%) | W 1 chorobie |
| SLITRK2SLIT and NTRK like family member 2 | Czasami (5–29%) | W 1 chorobie |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Czasami (5–29%) | W 1 chorobie |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Czasami (5–29%) | W 1 chorobie |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Czasami (5–29%) | W 2 chorobach |
| SMSspermine synthase | Czasami (5–29%) | W 1 chorobie |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Czasami (5–29%) | W 2 chorobach |
| SOX11SRY-box transcription factor 11 | Czasami (5–29%) | W 1 chorobie |
| SOX4SRY-box transcription factor 4 | Czasami (5–29%) | W 1 chorobie |
| SPTBN1spectrin beta, non-erythrocytic 1 | Czasami (5–29%) | W 1 chorobie |
| SRCAPSnf2 related CREBBP activator protein | Czasami (5–29%) | W 1 chorobie |
| SRPK3SRSF protein kinase 3 | Czasami (5–29%) | W 1 chorobie |
| STRADASTE20 related adaptor alpha | Czasami (5–29%) | W 2 chorobach |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Czasami (5–29%) | W 1 chorobie |
| TBL1XR1TBL1X/Y related 1 | Czasami (5–29%) | W 1 chorobie |
| TIMM50translocase of inner mitochondrial membrane 50 | Czasami (5–29%) | W 2 chorobach |
| TMCO1transmembrane and coiled-coil domains 1 | Czasami (5–29%) | W 1 chorobie |
| TMEM106Btransmembrane protein 106B | Czasami (5–29%) | W 1 chorobie |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Czasami (5–29%) | W 1 chorobie |
| TNPO2transportin 2 | Czasami (5–29%) | W 1 chorobie |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Czasami (5–29%) | W 1 chorobie |
| TRIOtrio Rho guanine nucleotide exchange factor | Czasami (5–29%) | W 1 chorobie |
| TRPV6transient receptor potential cation channel subfamily V member 6 | Czasami (5–29%) | W 1 chorobie |
| UFC1ubiquitin-fold modifier conjugating enzyme 1 | Czasami (5–29%) | W 1 chorobie |
| USP7ubiquitin specific peptidase 7 | Czasami (5–29%) | W 2 chorobach |
| WACWW domain containing adaptor with coiled-coil | Czasami (5–29%) | W 1 chorobie |
| WDR26WD repeat domain 26 | Czasami (5–29%) | W 2 chorobach |
| WDR83OSWD repeat domain 83 opposite strand | Czasami (5–29%) | W 1 chorobie |
| YME1L1YME1 like 1 ATPase | Czasami (5–29%) | W 1 chorobie |
| YY1YY1 transcription factor | Czasami (5–29%) | W 1 chorobie |
| DPAGT1dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Rzadko (1–4%) | W 1 chorobie |
| ACOX1acyl-CoA oxidase 1 | Nie odnotowano | W 1 chorobie |
| ALG11ALG11 alpha-1,2-mannosyltransferase | Nie odnotowano | W 1 chorobie |
| BCL11BBCL11 transcription factor B | Nie odnotowano | W 1 chorobie |
| BLTP1bridge-like lipid transfer protein family member 1 | Nie odnotowano | W 1 chorobie |
| BMP4bone morphogenetic protein 4 | Nie odnotowano | W 1 chorobie |
| BRAT1BRCA1 associated ATM activator 1 | Nie odnotowano | W 1 chorobie |
| C2CD3C2 domain containing 3 centriole elongation regulator | Nie odnotowano | W 1 chorobie |
| CACNA1Bcalcium voltage-gated channel subunit alpha1 B | Nie odnotowano | W 1 chorobie |
| CCDC47coiled-coil domain containing 47 | Nie odnotowano | W 1 chorobie |
| CCND2cyclin D2 | Nie odnotowano | W 1 chorobie |
| CHMP1Acharged multivesicular body protein 1A | Nie odnotowano | W 1 chorobie |
| CLCN4Cl-/H+ antiporter 4 | Nie odnotowano | W 1 chorobie |
| EXOSC3exosome component 3 | Nie odnotowano | W 1 chorobie |
| GABRB2gamma-aminobutyric acid type A receptor subunit beta2 | Nie odnotowano | W 1 chorobie |
| GNSglucosamine (N-acetyl)-6-sulfatase | Nie odnotowano | W 1 chorobie |
| GRIN2Dglutamate ionotropic receptor NMDA type subunit 2D | Nie odnotowano | W 1 chorobie |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Nie odnotowano | W 1 chorobie |
| HTThuntingtin | Nie odnotowano | W 1 chorobie |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Nie odnotowano | W 1 chorobie |
| IFIH1interferon induced with helicase C domain 1 | Nie odnotowano | W 1 chorobie |
| KCNA2potassium voltage-gated channel subfamily A member 2 | Nie odnotowano | W 1 chorobie |
| MAGEL2MAGE family member L2 | Nie odnotowano | W 1 chorobie |
| MPDU1mannose-P-dolichol utilization defect 1 | Nie odnotowano | W 1 chorobie |
| NACC1nucleus accumbens associated 1 | Nie odnotowano | W 1 chorobie |
| NEDD4LNEDD4 like E3 ubiquitin protein ligase | Nie odnotowano | W 1 chorobie |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Nie odnotowano | W 1 chorobie |
| PIGPphosphatidylinositol glycan anchor biosynthesis class P | Nie odnotowano | W 1 chorobie |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Nie odnotowano | W 1 chorobie |
| PRPS1phosphoribosyl pyrophosphate synthetase 1 | Nie odnotowano | W 1 chorobie |
| RARS2arginyl-tRNA synthetase 2, mitochondrial | Nie odnotowano | W 1 chorobie |
| RMND1required for meiotic nuclear division 1 homolog | Nie odnotowano | W 1 chorobie |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Nie odnotowano | W 1 chorobie |
| SLC1A2solute carrier family 1 member 2 | Nie odnotowano | W 1 chorobie |
| SLC2A1solute carrier family 2 member 1 | Nie odnotowano | W 1 chorobie |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Nie odnotowano | W 1 chorobie |
| ST3GAL5ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Nie odnotowano | W 1 chorobie |
| TCTN2tectonic family member 2 | Nie odnotowano | W 1 chorobie |
| TOE1target of EGR1, exonuclease | Nie odnotowano | W 1 chorobie |
| TRIT1tRNA isopentenyltransferase 1 | Nie odnotowano | W 1 chorobie |
| TRRAPtransformation/transcription domain associated protein | Nie odnotowano | W 1 chorobie |
| UFM1ubiquitin fold modifier 1 | Nie odnotowano | W 1 chorobie |
| UQCRQubiquinol-cytochrome c reductase complex III subunit VII | Nie odnotowano | W 1 chorobie |
| USP27Xubiquitin specific peptidase 27 X-linked | Nie odnotowano | W 1 chorobie |
| WDR45BWD repeat domain 45B | Nie odnotowano | W 1 chorobie |
| ZBTB18zinc finger and BTB domain containing 18 | Nie odnotowano | W 1 chorobie |
| ZC4H2zinc finger C4H2-type containing | Nie odnotowano | W 1 chorobie |
Jak często występuje wśród osób z jedną z chorób związanych z tym genem, najczęściej spośród wszystkich, według danych Human Phenotype Ontology. Te strony opisują cechy i badania, na których się opierają; nie są diagnozą, a w sprawie objawów należy zwrócić się do lekarza lub doradcy genetycznego.
Cechy nadrzędne
Skąd pochodzą te dane
- Human Phenotype Ontology, wydanie 2026-09-01: cecha, jej nazwy, definicja oraz geny z nią powiązane. Więcej informacji znajdą Państwo na stronie hpo.jax.org.
- Wydanie danych 2026.10.16-c6eea6bf.
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