Egenskap
Autism spectrum disorder
Klinisk navn: Autistic behavior
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Sammendrag
- Også kalt
- Autism spectrum disorders, ASD, Autistic behaviour, Pervasive developmental disorder
- Kroppssystem
- Abnormality of the nervous system
ReferansegenomGRCh38hg38
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Endringer i disse genene forårsaker sjeldne tilstander der Autism spectrum disorder 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 |
|---|---|---|
| BCORL1BCL6 corepressor like 1 | Alltid | I 1 tilstand |
| CTNNA2catenin alpha 2 | Alltid | I 1 tilstand |
| CUL3cullin 3 | Alltid | I 1 tilstand |
| EEF1A2eukaryotic translation elongation factor 1 alpha 2 | Alltid | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Alltid | I 2 tilstander |
| FAM177A1family with sequence similarity 177 member A1 | Alltid | I 1 tilstand |
| FLVCR1FLVCR choline and heme transporter 1 | Alltid | I 1 tilstand |
| GABBR2gamma-aminobutyric acid type B receptor subunit 2 | Alltid | I 2 tilstander |
| GCSHglycine cleavage system protein H | Alltid | I 1 tilstand |
| GRIN1glutamate ionotropic receptor NMDA type subunit 1 | Alltid | I 3 tilstander |
| GTPBP2GTP binding protein 2 | Alltid | I 1 tilstand |
| H4C11H4 clustered histone 11 | Alltid | I 1 tilstand |
| JKAMPJNK1/MAPK8 associated membrane protein | Alltid | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Alltid | I 1 tilstand |
| KCNK3potassium two pore domain channel subfamily K member 3 | Alltid | I 1 tilstand |
| KDM5Alysine demethylase 5A | Alltid | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Alltid | I 1 tilstand |
| MAGEL2MAGE family member L2 | Alltid | I 5 tilstander |
| MAXMYC associated transcriptional regulator X | Alltid | I 1 tilstand |
| MED16mediator complex subunit 16 | Alltid | I 1 tilstand |
| MEIS2Meis homeobox 2 | Alltid | I 1 tilstand |
| NCAPD2non-SMC condensin I complex subunit D2 | Alltid | I 1 tilstand |
| NEUROG1neurogenin 1 | Alltid | I 1 tilstand |
| NSD2nuclear receptor binding SET domain protein 2 | Alltid | I 1 tilstand |
| PDZD8PDZ domain containing 8 | Alltid | I 1 tilstand |
| PLCB4phospholipase C beta 4 | Alltid | I 1 tilstand |
| PPFIA3PPFI scaffold protein A3 | Alltid | I 1 tilstand |
| PRKAR1Bprotein kinase cAMP-dependent type I regulatory subunit beta | Alltid | I 1 tilstand |
| PTCRApre T cell antigen receptor alpha | Alltid | I 1 tilstand |
| RAB3ARAB3A, member RAS oncogene family | Alltid | I 1 tilstand |
| RALARAS like proto-oncogene A | Alltid | I 1 tilstand |
| REREarginine-glutamic acid dipeptide repeats | Alltid | I 2 tilstander |
| RSPRY1ring finger and SPRY domain containing 1 | Alltid | I 2 tilstander |
| SCN8Asodium voltage-gated channel alpha subunit 8 | Alltid | I 1 tilstand |
| SETD1BSET domain containing 1B, histone lysine methyltransferase | Alltid | I 1 tilstand |
| SLC13A1solute carrier family 13 member 1 | Alltid | I 1 tilstand |
| SLC35A3solute carrier family 35 member A3 | Alltid | I 2 tilstander |
| SLC35C1solute carrier family 35 member C1 | Alltid | I 2 tilstander |
| SRP54signal recognition particle 54 | Alltid | I 1 tilstand |
| TAF4TATA-box binding protein associated factor 4 | Alltid | I 1 tilstand |
Vis 445 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| TBL1XR1TBL1X/Y related 1 | Alltid | I 1 tilstand |
| TIAM1TIAM Rac1 associated GEF 1 | Alltid | I 1 tilstand |
| TMEM63Btransmembrane protein 63B | Alltid | I 1 tilstand |
| UBA2ubiquitin like modifier activating enzyme 2 | Alltid | I 1 tilstand |
| UBE3Cubiquitin protein ligase E3C | Alltid | I 1 tilstand |
| UGGT1UDP-glucose glycoprotein glucosyltransferase 1 | Alltid | I 1 tilstand |
| UNC13Aunc-13 homolog A | Alltid | I 1 tilstand |
| VAMP2vesicle associated membrane protein 2 | Alltid | I 1 tilstand |
| VPS13Bvacuolar protein sorting 13 homolog B | Alltid | I 1 tilstand |
| YWHAZtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta | Alltid | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Alltid | I 2 tilstander |
| ADNPactivity dependent neuroprotector homeobox | Svært ofte (80–99 %) | I 2 tilstander |
| AGO1argonaute RISC component 1 | Svært ofte (80–99 %) | I 1 tilstand |
| BCKDKbranched chain keto acid dehydrogenase kinase | Svært ofte (80–99 %) | I 1 tilstand |
| CDKL5cyclin dependent kinase like 5 | Svært ofte (80–99 %) | I 3 tilstander |
| CELF2CUGBP Elav-like family member 2 | Svært ofte (80–99 %) | I 1 tilstand |
| GALNT2polypeptide N-acetylgalactosaminyltransferase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| HEPACAMhepatic and glial cell adhesion molecule | Svært ofte (80–99 %) | I 1 tilstand |
| HERC2HECT and RLD domain containing E3 ubiquitin protein ligase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| KLHL20kelch like family member 20 | Svært ofte (80–99 %) | I 1 tilstand |
| MARK2microtubule affinity regulating kinase 2 | Svært ofte (80–99 %) | I 1 tilstand |
| MECP2methyl-CpG binding protein 2 | Svært ofte (80–99 %) | I 4 tilstander |
| MEF2Cmyocyte enhancer factor 2C | Svært ofte (80–99 %) | I 1 tilstand |
| MYT1Lmyelin transcription factor 1 like | Svært ofte (80–99 %) | I 2 tilstander |
| NAA15N-alpha-acetyltransferase 15, NatA auxiliary subunit | Svært ofte (80–99 %) | I 1 tilstand |
| NEXMIFneurite extension and migration factor | Svært ofte (80–99 %) | I 3 tilstander |
| NTNG1netrin G1 | Svært ofte (80–99 %) | I 1 tilstand |
| NTNG2netrin G2 | Svært ofte (80–99 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Svært ofte (80–99 %) | I 1 tilstand |
| RIMS2regulating synaptic membrane exocytosis 2 | Svært ofte (80–99 %) | I 1 tilstand |
| SH2B1SH2B adaptor protein 1 | Svært ofte (80–99 %) | I 2 tilstander |
| SMC1Astructural maintenance of chromosomes 1A | Svært ofte (80–99 %) | I 2 tilstander |
| SYT1synaptotagmin 1 | Svært ofte (80–99 %) | I 1 tilstand |
| TET3tet methylcytosine dioxygenase 3 | Svært ofte (80–99 %) | I 1 tilstand |
| TSC1TSC complex subunit 1 | Svært ofte (80–99 %) | I 2 tilstander |
| WFS1wolframin ER transmembrane glycoprotein | Svært ofte (80–99 %) | I 1 tilstand |
| ACBD6acyl-CoA binding domain containing 6 | Ofte (30–79 %) | I 1 tilstand |
| ACTL6Bactin like 6B | Ofte (30–79 %) | I 1 tilstand |
| ADGRL1adhesion G protein-coupled receptor L1 | Ofte (30–79 %) | I 1 tilstand |
| AFF2ALF transcription elongation factor 2 | Ofte (30–79 %) | I 1 tilstand |
| AFG2AAAA ATPase AFG2A | Ofte (30–79 %) | I 1 tilstand |
| AGO2argonaute RISC catalytic component 2 | Ofte (30–79 %) | I 1 tilstand |
| AHDC1AT-hook DNA binding motif containing 1 | Ofte (30–79 %) | I 1 tilstand |
| ALDH18A1aldehyde dehydrogenase 18 family member A1 | Ofte (30–79 %) | I 2 tilstander |
| ANK3ankyrin 3 | Ofte (30–79 %) | I 1 tilstand |
| AP1G1adaptor related protein complex 1 subunit gamma 1 | Ofte (30–79 %) | I 1 tilstand |
| AP1S2adaptor related protein complex 1 subunit sigma 2 | Ofte (30–79 %) | I 1 tilstand |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Ofte (30–79 %) | I 2 tilstander |
| ASH1LASH1 like histone lysine methyltransferase | Ofte (30–79 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Ofte (30–79 %) | I 2 tilstander |
| ATP1A1ATPase Na+/K+ transporting subunit alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP2B1ATPase plasma membrane Ca2+ transporting 1 | Ofte (30–79 %) | I 1 tilstand |
| ATP6V0A1ATPase H+ transporting V0 subunit a1 | Ofte (30–79 %) | I 1 tilstand |
| ATP9AATPase phospholipid transporting 9A | Ofte (30–79 %) | I 1 tilstand |
| AUTS2activator of transcription and developmental regulator AUTS2 | Ofte (30–79 %) | I 2 tilstander |
| BCL11ABCL11 transcription factor A | Ofte (30–79 %) | I 2 tilstander |
| BCL11BBCL11 transcription factor B | Ofte (30–79 %) | I 1 tilstand |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Ofte (30–79 %) | I 1 tilstand |
| CACNA1Acalcium voltage-gated channel subunit alpha1 A | Ofte (30–79 %) | I 1 tilstand |
| CAMTA1calmodulin binding transcription activator 1 | Ofte (30–79 %) | I 1 tilstand |
| CAPN15calpain 15 | Ofte (30–79 %) | I 1 tilstand |
| CAPRIN1cell cycle associated protein 1 | Ofte (30–79 %) | I 1 tilstand |
| CASP2caspase 2 | Ofte (30–79 %) | I 1 tilstand |
| CC2D2Acoiled-coil and C2 domain containing 2A | Ofte (30–79 %) | I 1 tilstand |
| CCNKcyclin K | Ofte (30–79 %) | I 1 tilstand |
| CDC42BPBCDC42 binding protein kinase beta | Ofte (30–79 %) | I 1 tilstand |
| CDK8cyclin dependent kinase 8 | Ofte (30–79 %) | I 1 tilstand |
| CEP290centrosomal protein 290 | Ofte (30–79 %) | I 2 tilstander |
| CHD2chromodomain helicase DNA binding protein 2 | Ofte (30–79 %) | I 3 tilstander |
| CHD5chromodomain helicase DNA binding protein 5 | Ofte (30–79 %) | I 1 tilstand |
| CLCN3Cl-/H+ antiporter 3 | Ofte (30–79 %) | I 2 tilstander |
| CNKSR2connector enhancer of kinase suppressor of Ras 2 | Ofte (30–79 %) | I 1 tilstand |
| CNOT3CCR4-NOT transcription complex subunit 3 | Ofte (30–79 %) | I 1 tilstand |
| CNTNAP2contactin associated protein 2 | Ofte (30–79 %) | I 1 tilstand |
| COPZ1coat protein complex I subunit zeta 1 | Ofte (30–79 %) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Ofte (30–79 %) | I 2 tilstander |
| CTCFCCCTC-binding factor | Ofte (30–79 %) | I 2 tilstander |
| CUX2cut like homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| DDX3XDEAD-box helicase 3 X-linked | Ofte (30–79 %) | I 1 tilstand |
| DHX30DExH-box helicase 30 | Ofte (30–79 %) | I 1 tilstand |
| DLG4discs large MAGUK scaffold protein 4 | Ofte (30–79 %) | I 1 tilstand |
| DLL1delta like canonical Notch ligand 1 | Ofte (30–79 %) | I 1 tilstand |
| DNM1dynamin 1 | Ofte (30–79 %) | I 1 tilstand |
| DPP9dipeptidyl peptidase 9 | Ofte (30–79 %) | I 1 tilstand |
| DPYDdihydropyrimidine dehydrogenase | Ofte (30–79 %) | I 2 tilstander |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Ofte (30–79 %) | I 2 tilstander |
| ELFN1extracellular leucine rich repeat and fibronectin type III domain containing 1 | Ofte (30–79 %) | I 1 tilstand |
| FBXO11F-box protein 11 | Ofte (30–79 %) | I 1 tilstand |
| FBXW11F-box and WD repeat domain containing 11 | Ofte (30–79 %) | I 1 tilstand |
| FGF13fibroblast growth factor 13 | Ofte (30–79 %) | I 2 tilstander |
| FOSL2FOS like 2, AP-1 transcription factor subunit | Ofte (30–79 %) | I 1 tilstand |
| FOXP1forkhead box P1 | Ofte (30–79 %) | I 2 tilstander |
| FRMPD4FERM and PDZ domain containing 4 | Ofte (30–79 %) | I 1 tilstand |
| FZR1fizzy and cell division cycle 20 related 1 | Ofte (30–79 %) | I 1 tilstand |
| GABRA1gamma-aminobutyric acid type A receptor subunit alpha1 | Ofte (30–79 %) | I 1 tilstand |
| GABRA2gamma-aminobutyric acid type A receptor subunit alpha2 | Ofte (30–79 %) | I 1 tilstand |
| GABRB3gamma-aminobutyric acid type A receptor subunit beta3 | Ofte (30–79 %) | I 1 tilstand |
| GABRG2gamma-aminobutyric acid type A receptor subunit gamma2 | Ofte (30–79 %) | I 2 tilstander |
| GNAI1G protein subunit alpha i1 | Ofte (30–79 %) | I 1 tilstand |
| GON4Lgon-4 like | Ofte (30–79 %) | I 1 tilstand |
| GRIA1glutamate ionotropic receptor AMPA type subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| GRIA2glutamate ionotropic receptor AMPA type subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| GRIA3glutamate ionotropic receptor AMPA type subunit 3 | Ofte (30–79 %) | I 2 tilstander |
| GRIN2Aglutamate ionotropic receptor NMDA type subunit 2A | Ofte (30–79 %) | I 3 tilstander |
| GTPBP1GTP binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| HCN1hyperpolarization activated cyclic nucleotide gated potassium channel 1 | Ofte (30–79 %) | I 3 tilstander |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPH2heterogeneous nuclear ribonucleoprotein H2 | Ofte (30–79 %) | I 1 tilstand |
| IFNGinterferon gamma | Ofte (30–79 %) | I 1 tilstand |
| INTS1integrator complex subunit 1 | Ofte (30–79 %) | I 1 tilstand |
| JARID2jumonji and AT-rich interaction domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Ofte (30–79 %) | I 1 tilstand |
| KCNN2potassium calcium-activated channel subfamily N member 2 | Ofte (30–79 %) | I 1 tilstand |
| KDM2Blysine demethylase 2B | Ofte (30–79 %) | I 1 tilstand |
| KDM6Blysine demethylase 6B | Ofte (30–79 %) | I 1 tilstand |
| KMT2Clysine methyltransferase 2C | Ofte (30–79 %) | I 2 tilstander |
| KMT5Blysine methyltransferase 5B | Ofte (30–79 %) | I 1 tilstand |
| KPTNkaptin, actin binding protein | Ofte (30–79 %) | I 2 tilstander |
| MAPK10mitogen-activated protein kinase 10 | Ofte (30–79 %) | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ofte (30–79 %) | I 1 tilstand |
| MBOAT7membrane bound acylglycerophosphatidylinositol O-acyltransferase MBOAT7 | Ofte (30–79 %) | I 1 tilstand |
| MCTP2multiple C2 and transmembrane domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| MED12Lmediator complex subunit 12L | Ofte (30–79 %) | I 1 tilstand |
| MED13mediator complex subunit 13 | Ofte (30–79 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Ofte (30–79 %) | I 1 tilstand |
| MFSD2AMFSD2 lysolipid transporter A, lysophospholipid | Ofte (30–79 %) | I 1 tilstand |
| MSL2MSL complex subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| MTSS2MTSS I-BAR domain containing 2 | Ofte (30–79 %) | I 1 tilstand |
| NBEAneurobeachin | Ofte (30–79 %) | I 1 tilstand |
| NDNnecdin, MAGE family member | Ofte (30–79 %) | I 3 tilstander |
| NFIXnuclear factor I X | Ofte (30–79 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Ofte (30–79 %) | I 1 tilstand |
| NLGN4Xneuroligin 4 X-linked | Ofte (30–79 %) | I 1 tilstand |
| NOVA2NOVA alternative splicing regulator 2 | Ofte (30–79 %) | I 1 tilstand |
| NR2F1nuclear receptor subfamily 2 group F member 1 | Ofte (30–79 %) | I 1 tilstand |
| NR4A2nuclear receptor subfamily 4 group A member 2 | Ofte (30–79 %) | I 1 tilstand |
| NUS1NUS1 dehydrodolichyl diphosphate synthase subunit | Ofte (30–79 %) | I 1 tilstand |
| OCA2OCA2 melanosomal transmembrane protein | Ofte (30–79 %) | I 4 tilstander |
| OPHN1oligophrenin 1 | Ofte (30–79 %) | I 1 tilstand |
| PCDH19protocadherin 19 | Ofte (30–79 %) | I 3 tilstander |
| PGBD5piggyBac transposable element derived 5 | Ofte (30–79 %) | I 1 tilstand |
| PHACTR1phosphatase and actin regulator 1 | Ofte (30–79 %) | I 1 tilstand |
| PHF21APHD finger protein 21A | Ofte (30–79 %) | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Ofte (30–79 %) | I 1 tilstand |
| PLXNA1plexin A1 | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 2 tilstander |
| POU3F3POU class 3 homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| POU4F1POU class 4 homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PPP2CAprotein phosphatase 2 catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| PPP2R5Dprotein phosphatase 2 regulatory subunit B'delta | Ofte (30–79 %) | I 1 tilstand |
| PRR12proline rich 12 | Ofte (30–79 %) | I 1 tilstand |
| PSMC3proteasome 26S subunit, ATPase 3 | Ofte (30–79 %) | I 1 tilstand |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Ofte (30–79 %) | I 1 tilstand |
| PTBP1polypyrimidine tract binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| PUF60poly(U) binding splicing factor 60 | Ofte (30–79 %) | I 2 tilstander |
| QRICH1glutamine rich 1 | Ofte (30–79 %) | I 1 tilstand |
| RELREL proto-oncogene, NF-kB subunit | Ofte (30–79 %) | I 1 tilstand |
| RFX7regulatory factor X7 | Ofte (30–79 %) | I 1 tilstand |
| RLIMring finger protein, LIM domain interacting | Ofte (30–79 %) | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Ofte (30–79 %) | I 1 tilstand |
| RNU5B-1RNA, U5B small nuclear 1 | Ofte (30–79 %) | I 1 tilstand |
| RORARAR related orphan receptor A | Ofte (30–79 %) | I 1 tilstand |
| RPGRIP1LRPGRIP1 like | Ofte (30–79 %) | I 1 tilstand |
| RPS23ribosomal protein S23 | Ofte (30–79 %) | I 1 tilstand |
| SATB2SATB homeobox 2 | Ofte (30–79 %) | I 1 tilstand |
| SCAF4SR-related CTD associated factor 4 | Ofte (30–79 %) | I 1 tilstand |
| SCN1Asodium voltage-gated channel alpha subunit 1 | Ofte (30–79 %) | I 4 tilstander |
| SCN1Bsodium voltage-gated channel beta subunit 1 | Ofte (30–79 %) | I 3 tilstander |
| SCN2Asodium voltage-gated channel alpha subunit 2 | Ofte (30–79 %) | I 3 tilstander |
| SCN9Asodium voltage-gated channel alpha subunit 9 | Ofte (30–79 %) | I 2 tilstander |
| SETD5SET domain containing 5 | Ofte (30–79 %) | I 1 tilstand |
| SIM1SIM bHLH transcription factor 1 | Ofte (30–79 %) | I 3 tilstander |
| SIN3ASIN3 transcription regulator family member A | Ofte (30–79 %) | I 2 tilstander |
| SIN3BSIN3 transcription regulator family member B | Ofte (30–79 %) | I 1 tilstand |
| SLC12A2solute carrier family 12 member 2 | Ofte (30–79 %) | I 1 tilstand |
| SLC32A1solute carrier family 32 member 1 | Ofte (30–79 %) | I 4 tilstander |
| SLC6A1solute carrier family 6 member 1 | Ofte (30–79 %) | I 3 tilstander |
| SLC6A8solute carrier family 6 member 8 | Ofte (30–79 %) | I 1 tilstand |
| SLITRK2SLIT and NTRK like family member 2 | Ofte (30–79 %) | I 1 tilstand |
| SNRPNsmall nuclear ribonucleoprotein polypeptide N | Ofte (30–79 %) | I 3 tilstander |
| SNX14sorting nexin 14 | Ofte (30–79 %) | I 2 tilstander |
| SONSON DNA and RNA binding protein | Ofte (30–79 %) | I 2 tilstander |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Ofte (30–79 %) | I 1 tilstand |
| SPENspen family transcriptional repressor | Ofte (30–79 %) | I 1 tilstand |
| SPTAN1spectrin alpha, non-erythrocytic 1 | Ofte (30–79 %) | I 1 tilstand |
| SRCAPSnf2 related CREBBP activator protein | Ofte (30–79 %) | I 1 tilstand |
| SRRM2serine/arginine repetitive matrix 2 | Ofte (30–79 %) | I 1 tilstand |
| STAG1STAG1 cohesin complex component | Ofte (30–79 %) | I 2 tilstander |
| STAG2STAG2 cohesin complex component | Ofte (30–79 %) | I 1 tilstand |
| STEEP1STING1 ER exit protein 1 | Ofte (30–79 %) | I 1 tilstand |
| SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit | Ofte (30–79 %) | I 1 tilstand |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Ofte (30–79 %) | I 3 tilstander |
| TAF1TATA-box binding protein associated factor 1 | Ofte (30–79 %) | I 2 tilstander |
| TANC2tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 | Ofte (30–79 %) | I 1 tilstand |
| TBC1D23TBC1 domain family member 23 | Ofte (30–79 %) | I 1 tilstand |
| TBCBtubulin folding cofactor B | Ofte (30–79 %) | I 1 tilstand |
| TBR1T-box brain transcription factor 1 | Ofte (30–79 %) | I 1 tilstand |
| TCEAL1transcription elongation factor A like 1 | Ofte (30–79 %) | I 1 tilstand |
| TCF20transcription factor 20 | Ofte (30–79 %) | I 1 tilstand |
| TFE3transcription factor binding to IGHM enhancer 3 | Ofte (30–79 %) | I 1 tilstand |
| TM2D3TM2 domain containing 3 | Ofte (30–79 %) | I 1 tilstand |
| TMEM138transmembrane protein 138 | Ofte (30–79 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Ofte (30–79 %) | I 1 tilstand |
| TMEM231transmembrane protein 231 | Ofte (30–79 %) | I 1 tilstand |
| TMEM237transmembrane protein 237 | Ofte (30–79 %) | I 1 tilstand |
| TMTC3transmembrane O-mannosyltransferase targeting cadherins 3 | Ofte (30–79 %) | I 1 tilstand |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Ofte (30–79 %) | I 1 tilstand |
| TOE1target of EGR1, exonuclease | Ofte (30–79 %) | I 1 tilstand |
| TRIOtrio Rho guanine nucleotide exchange factor | Ofte (30–79 %) | I 2 tilstander |
| TRIP12thyroid hormone receptor interactor 12 | Ofte (30–79 %) | I 1 tilstand |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Ofte (30–79 %) | I 1 tilstand |
| TSC2TSC complex subunit 2 | Ofte (30–79 %) | I 1 tilstand |
| UBAP2Lubiquitin associated protein 2 like | Ofte (30–79 %) | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ofte (30–79 %) | I 1 tilstand |
| UBE4Aubiquitination factor E4A | Ofte (30–79 %) | I 1 tilstand |
| UBR5ubiquitin protein ligase E3 component n-recognin 5 | Ofte (30–79 %) | I 1 tilstand |
| UPF3BUPF3B regulator of nonsense mediated mRNA decay | Ofte (30–79 %) | I 1 tilstand |
| USP7ubiquitin specific peptidase 7 | Ofte (30–79 %) | I 2 tilstander |
| WARS1tryptophanyl-tRNA synthetase 1 | Ofte (30–79 %) | I 1 tilstand |
| WBP4WW domain binding protein 4 | Ofte (30–79 %) | I 1 tilstand |
| XPO1exportin 1 | Ofte (30–79 %) | I 1 tilstand |
| ZBTB7Azinc finger and BTB domain containing 7A | Ofte (30–79 %) | I 1 tilstand |
| ZMYM3zinc finger MYM-type containing 3 | Ofte (30–79 %) | I 1 tilstand |
| ZNF292zinc finger protein 292 | Ofte (30–79 %) | I 1 tilstand |
| ZNF423zinc finger protein 423 | Ofte (30–79 %) | I 1 tilstand |
| ZNF462zinc finger protein 462 | Ofte (30–79 %) | I 2 tilstander |
| ZSWIM6zinc finger SWIM-type containing 6 | Ofte (30–79 %) | I 1 tilstand |
| ACSL4acyl-CoA synthetase long chain family member 4 | Noen ganger (5–29 %) | I 1 tilstand |
| ADH5alcohol dehydrogenase 5 (class III), chi polypeptide | Noen ganger (5–29 %) | I 1 tilstand |
| AFF3ALF transcription elongation factor 3 | Noen ganger (5–29 %) | I 1 tilstand |
| AIPL1AIP like 1 HSP90 co-chaperone | Noen ganger (5–29 %) | I 1 tilstand |
| ALDH4A1aldehyde dehydrogenase 4 family member A1 | Noen ganger (5–29 %) | I 1 tilstand |
| ALMS1ALMS1 centrosome and basal body associated protein | Noen ganger (5–29 %) | I 2 tilstander |
| ANKRD17ankyrin repeat domain 17 | Noen ganger (5–29 %) | I 1 tilstand |
| APC2APC regulator of Wnt signaling pathway 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Noen ganger (5–29 %) | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Noen ganger (5–29 %) | I 2 tilstander |
| ARID2AT-rich interaction domain 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ARXaristaless related homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| ATG7autophagy related 7 | Noen ganger (5–29 %) | I 1 tilstand |
| ATP1A3ATPase Na+/K+ transporting subunit alpha 3 | Noen ganger (5–29 %) | I 2 tilstander |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Noen ganger (5–29 %) | I 1 tilstand |
| BAIAP2BAR/IMD domain containing adaptor protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| BAP1BRCA1 associated deubiquitinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| BCORBCL6 corepressor | Noen ganger (5–29 %) | I 1 tilstand |
| CABP4calcium binding protein 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CACNA1Ecalcium voltage-gated channel subunit alpha1 E | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Bcalcium/calmodulin dependent protein kinase II beta | Noen ganger (5–29 %) | I 1 tilstand |
| CARS2cysteinyl-tRNA synthetase 2, mitochondrial | Noen ganger (5–29 %) | I 1 tilstand |
| CASKcalcium/calmodulin dependent serine protein kinase | Noen ganger (5–29 %) | I 2 tilstander |
| CBScystathionine beta-synthase | Noen ganger (5–29 %) | I 1 tilstand |
| CDH11cadherin 11 | Noen ganger (5–29 %) | I 1 tilstand |
| CDH15cadherin 15 | Noen ganger (5–29 %) | I 1 tilstand |
| CDH2cadherin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| CEP85Lcentrosomal protein 85L | Noen ganger (5–29 %) | I 1 tilstand |
| CHD1chromodomain helicase DNA binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CHD3chromodomain helicase DNA binding protein 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CHKAcholine kinase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CICcapicua transcriptional repressor | Noen ganger (5–29 %) | I 1 tilstand |
| CLCN4Cl-/H+ antiporter 4 | Noen ganger (5–29 %) | I 2 tilstander |
| CLN8CLN8 transmembrane ER and ERGIC protein | Noen ganger (5–29 %) | I 1 tilstand |
| COG5component of oligomeric golgi complex 5 | Noen ganger (5–29 %) | I 1 tilstand |
| CRB1crumbs cell polarity complex component 1 | Noen ganger (5–29 %) | I 1 tilstand |
| CRXcone-rod homeobox | Noen ganger (5–29 %) | I 1 tilstand |
| CTNNB1catenin beta 1 | Noen ganger (5–29 %) | I 2 tilstander |
| DCXdoublecortin | Noen ganger (5–29 %) | I 1 tilstand |
| DDCdopa decarboxylase | Noen ganger (5–29 %) | I 1 tilstand |
| DEAF1DEAF1 transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| DEPDC5DEP domain containing 5, GATOR1 subcomplex subunit | Noen ganger (5–29 %) | I 2 tilstander |
| DLK1delta like non-canonical Notch ligand 1 | Noen ganger (5–29 %) | I 1 tilstand |
| DMPKDM1 protein kinase | Noen ganger (5–29 %) | I 1 tilstand |
| DMXL2Dmx like 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Noen ganger (5–29 %) | I 1 tilstand |
| DOLKdolichol kinase | Noen ganger (5–29 %) | I 1 tilstand |
| DPF2double PHD fingers 2 | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
| DSTdystonin | Noen ganger (5–29 %) | I 1 tilstand |
| DTNAdystrobrevin alpha | Noen ganger (5–29 %) | I 1 tilstand |
| EFL1elongation factor like GTPase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EHMT1euchromatic histone lysine methyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| EIF5Aeukaryotic translation initiation factor 5A | Noen ganger (5–29 %) | I 1 tilstand |
| FERRY3FERRY endosomal RAB5 effector complex subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| FOXP2forkhead box P2 | Noen ganger (5–29 %) | I 2 tilstander |
| FRA10AC1FRA10A associated CGG repeat 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GABBR1gamma-aminobutyric acid type B receptor subunit 1 | Noen ganger (5–29 %) | I 1 tilstand |
| GALTgalactose-1-phosphate uridylyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| GATAD2BGATA zinc finger domain containing 2B | Noen ganger (5–29 %) | I 1 tilstand |
| GDF6growth differentiation factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| GLYCTKglycerate kinase | Noen ganger (5–29 %) | I 1 tilstand |
| GNAO1G protein subunit alpha o1 | Noen ganger (5–29 %) | I 1 tilstand |
| GNAQG protein subunit alpha q | Noen ganger (5–29 %) | I 1 tilstand |
| GNB2G protein subunit beta 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRIK2glutamate ionotropic receptor kainate type subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GRM7glutamate metabotropic receptor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| GTF3C3general transcription factor IIIC subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| GUCY2Dguanylate cyclase 2D, retinal | Noen ganger (5–29 %) | I 1 tilstand |
| H3-3AH3.3 histone A | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC4histone deacetylase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| HPD4-hydroxyphenylpyruvate dioxygenase | Noen ganger (5–29 %) | I 1 tilstand |
| IARS1isoleucyl-tRNA synthetase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IFT140intraflagellar transport 140 | Noen ganger (5–29 %) | I 2 tilstander |
| IMPDH1inosine monophosphate dehydrogenase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| IQCB1IQ motif containing B1 | Noen ganger (5–29 %) | I 1 tilstand |
| IQSEC2IQ motif and Sec7 domain ArfGEF 2 | Noen ganger (5–29 %) | I 1 tilstand |
| JAM2junctional adhesion molecule 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KAT8lysine acetyltransferase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNA1potassium voltage-gated channel subfamily A member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNC2potassium voltage-gated channel subfamily C member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| KCNJ13potassium inwardly rectifying channel subfamily J member 13 | Noen ganger (5–29 %) | I 1 tilstand |
| KDM3Blysine demethylase 3B | Noen ganger (5–29 %) | I 1 tilstand |
| KDM4Blysine demethylase 4B | Noen ganger (5–29 %) | I 1 tilstand |
| KDM6Alysine demethylase 6A | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Blysine methyltransferase 2B | Noen ganger (5–29 %) | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Noen ganger (5–29 %) | I 1 tilstand |
| LCA5lebercilin LCA5 | Noen ganger (5–29 %) | I 1 tilstand |
| LGI1leucine rich glioma inactivated 1 | Noen ganger (5–29 %) | I 1 tilstand |
| LRATlecithin retinol acyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| MADDMAP kinase activating death domain | Noen ganger (5–29 %) | I 1 tilstand |
| MAN1B1mannosidase alpha class 1B member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MAP1Bmicrotubule associated protein 1B | Noen ganger (5–29 %) | I 1 tilstand |
| MEG3maternally expressed 3 | Noen ganger (5–29 %) | I 1 tilstand |
| MID1midline 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MSTO1misato mitochondrial distribution and morphology regulator 1 | Noen ganger (5–29 %) | I 1 tilstand |
| MTORmechanistic target of rapamycin kinase | Noen ganger (5–29 %) | I 1 tilstand |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Noen ganger (5–29 %) | I 2 tilstander |
| NEUROD2neuronal differentiation 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NF1neurofibromin 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NIPA1NIPA magnesium transporter 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NIPA2NIPA magnesium transporter 2 | Noen ganger (5–29 %) | I 1 tilstand |
| NMNAT1nicotinamide nucleotide adenylyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NPRL2NPR2 like, GATOR1 complex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NPRL3NPR3 like, GATOR1 complex subunit | Noen ganger (5–29 %) | I 1 tilstand |
| NSD1nuclear receptor binding SET domain protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| OTUD5OTU deubiquitinase 5 | Noen ganger (5–29 %) | I 1 tilstand |
| OTUD6BOTU deubiquitinase 6B | Noen ganger (5–29 %) | I 2 tilstander |
| OTX2orthodenticle homeobox 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PACS1phosphofurin acidic cluster sorting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PACS2phosphofurin acidic cluster sorting protein 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PCYT1Aphosphate cytidylyltransferase 1A, choline | Noen ganger (5–29 %) | I 1 tilstand |
| PDE4Dphosphodiesterase 4D | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP2post-GPI attachment to proteins 2 | Noen ganger (5–29 %) | I 1 tilstand |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Noen ganger (5–29 %) | I 1 tilstand |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Noen ganger (5–29 %) | I 1 tilstand |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Noen ganger (5–29 %) | I 1 tilstand |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | 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 |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Noen ganger (5–29 %) | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Noen ganger (5–29 %) | I 1 tilstand |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Noen ganger (5–29 %) | I 1 tilstand |
| PLA2G6phospholipase A2 group VI | Noen ganger (5–29 %) | I 1 tilstand |
| PNKPpolynucleotide kinase 3'-phosphatase | Noen ganger (5–29 %) | I 1 tilstand |
| POLA1DNA polymerase alpha 1, catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| POLR2ARNA polymerase II subunit A | Noen ganger (5–29 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PPM1Dprotein phosphatase, Mg2+/Mn2+ dependent 1D | Noen ganger (5–29 %) | I 1 tilstand |
| PPP2R5Cprotein phosphatase 2 regulatory subunit B'gamma | Noen ganger (5–29 %) | I 1 tilstand |
| PRODHproline dehydrogenase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| PRORPprotein only RNase P catalytic subunit | Noen ganger (5–29 %) | I 1 tilstand |
| PRPH2peripherin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RAB39BRAB39B, member RAS oncogene family | Noen ganger (5–29 %) | I 1 tilstand |
| RAC1Rac family small GTPase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RD3RD3 regulator of GUCY2D | Noen ganger (5–29 %) | I 1 tilstand |
| RDH12retinol dehydrogenase 12 | Noen ganger (5–29 %) | I 1 tilstand |
| RHOBTB2Rho related BTB domain containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| RNF135ring finger protein 135 | Noen ganger (5–29 %) | I 1 tilstand |
| RPE65retinoid isomerohydrolase RPE65 | Noen ganger (5–29 %) | I 1 tilstand |
| RPGRIP1RPGR interacting protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RPS6KC1ribosomal protein S6 kinase C1 | Noen ganger (5–29 %) | I 1 tilstand |
| RSRC1arginine and serine rich coiled-coil 1 | Noen ganger (5–29 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SBDSSBDS ribosome maturation factor | Noen ganger (5–29 %) | I 1 tilstand |
| SBF2SET binding factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SCN3Asodium voltage-gated channel alpha subunit 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SETBP1SET binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SETD1ASET domain containing 1A, histone lysine methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| SIK1salt inducible kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC25A22solute carrier family 25 member 22 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC2A1solute carrier family 2 member 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SLC6A11solute carrier family 6 member 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SLF2SMC5/6 complex localization factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Noen ganger (5–29 %) | I 1 tilstand |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX11SRY-box transcription factor 11 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX4SRY-box transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| SOX6SRY-box transcription factor 6 | Noen ganger (5–29 %) | I 1 tilstand |
| SPATA7spermatogenesis associated 7 | Noen ganger (5–29 %) | I 1 tilstand |
| SPTBN1spectrin beta, non-erythrocytic 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SRYsex determining region Y | Noen ganger (5–29 %) | I 1 tilstand |
| STXBP1syntaxin binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SVBPsmall vasohibin binding protein | Noen ganger (5–29 %) | I 1 tilstand |
| TAOK1TAO kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TBC1D24TBC1 domain family member 24 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX2T-box transcription factor 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF12transcription factor 12 | Noen ganger (5–29 %) | I 1 tilstand |
| TCF4transcription factor 4 | Noen ganger (5–29 %) | I 1 tilstand |
| THOC2THO complex subunit 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TM4SF20transmembrane 4 L six family member 20 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM222transmembrane protein 222 | Noen ganger (5–29 %) | I 1 tilstand |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Noen ganger (5–29 %) | I 1 tilstand |
| TRAF7TNF receptor associated factor 7 | Noen ganger (5–29 %) | I 1 tilstand |
| TRIM8tripartite motif containing 8 | Noen ganger (5–29 %) | I 1 tilstand |
| TRRAPtransformation/transcription domain associated protein | Noen ganger (5–29 %) | I 1 tilstand |
| TTC5tetratricopeptide repeat domain 5 | Noen ganger (5–29 %) | I 1 tilstand |
| TUBB4Btubulin beta 4B class IVb | Noen ganger (5–29 %) | I 1 tilstand |
| TUBG1tubulin gamma 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TULP1TUB like protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| UBTFupstream binding transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| USP45ubiquitin specific peptidase 45 | Noen ganger (5–29 %) | I 1 tilstand |
| USP9Xubiquitin specific peptidase 9 X-linked | Noen ganger (5–29 %) | I 1 tilstand |
| WACWW domain containing adaptor with coiled-coil | Noen ganger (5–29 %) | I 2 tilstander |
| WDR26WD repeat domain 26 | Noen ganger (5–29 %) | I 1 tilstand |
| WDR83OSWD repeat domain 83 opposite strand | Noen ganger (5–29 %) | I 1 tilstand |
| YY1YY1 transcription factor | Noen ganger (5–29 %) | I 2 tilstander |
| ZIC1Zic family zinc finger 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ZMYM2zinc finger MYM-type containing 2 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNF711ZFX family zinc finger ZNF711 | Noen ganger (5–29 %) | I 1 tilstand |
| ZNFX1zinc finger NFX1-type containing 1 | Noen ganger (5–29 %) | I 1 tilstand |
| ZSCAN10zinc finger and SCAN domain containing 10 | Noen ganger (5–29 %) | I 1 tilstand |
| ADGRV1adhesion G protein-coupled receptor V1 | Sjelden (1–4%) | I 1 tilstand |
| CPA6carboxypeptidase A6 | Sjelden (1–4%) | I 1 tilstand |
| ELNelastin | Sjelden (1–4%) | I 1 tilstand |
| FBLN5fibulin 5 | Sjelden (1–4%) | I 1 tilstand |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sjelden (1–4%) | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Sjelden (1–4%) | I 1 tilstand |
| JAG2jagged canonical Notch ligand 2 | Sjelden (1–4%) | I 1 tilstand |
| PRRT2proline rich transmembrane protein 2 | Sjelden (1–4%) | I 1 tilstand |
| STX1Bsyntaxin 1B | Sjelden (1–4%) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ikke registrert | I 1 tilstand |
| HIVEP2HIVEP zinc finger 2 | Ikke registrert | I 1 tilstand |
| LSSlanosterol synthase | Ikke registrert | I 1 tilstand |
| NLGN1neuroligin 1 | Ikke registrert | I 1 tilstand |
| NTRK2neurotrophic receptor tyrosine kinase 2 | Ikke registrert | I 1 tilstand |
| PCGF2polycomb group ring finger 2 | Ikke registrert | I 1 tilstand |
| SETD2SET domain containing 2, histone lysine methyltransferase | Ikke registrert | I 1 tilstand |
| SYN1synapsin I | Ikke registrert | I 1 tilstand |
| TLK2tousled like kinase 2 | Ikke registrert | I 1 tilstand |
| TNPO2transportin 2 | Ikke registrert | I 1 tilstand |
| ZMIZ1zinc finger MIZ-type containing 1 | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Smalere egenskaper
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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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