Orphanet: Genes
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130 Result(s)
ALX homeobox 4 - ALX4 ankyrin 1 - ANK1 ankyrin repeat domain 11 - ANKRD11 APC regulator of WNT signaling pathway - APC APC regulator of WNT signaling pathway 2 - APC2 AT-rich interaction domain 1B - ARID1B ARVCF delta catenin family member - ARVCF bromodomain adjacent to zinc finger domain 1B - BAZ1B BCR activator of RhoGEF and GTPase - BCR brain derived neurotrophic factor - BDNF bone morphogenetic protein 2 - BMP2 bone morphogenetic protein receptor type 1A - BMPR1A bromodomain PHD finger transcription factor - BPTF calmodulin-lysine N-methyltransferase - CAMKMT cation channel sperm associated 2 - CATSPER2 cholinergic receptor nicotinic alpha 7 subunit - CHRNA7 CAP-Gly domain containing linker protein 2 - CLIP2 CCR4-NOT transcription complex subunit 2 - CNOT2 catechol-O-methyltransferase - COMT CREB binding protein - CREBBP CRK like proto-oncogene, adaptor protein - CRKL catenin delta 2 - CTNND2 DEAF1 transcription factor - DEAF1 delta like non-canonical Notch ligand 1 - DLK1 dihydropyrimidine dehydrogenase - DPYD dual specificity tyrosine phosphorylation regulated kinase 1A - DYRK1A euchromatic histone lysine methyltransferase 1 - EHMT1 elastin - ELN ELKS/RAB6-interacting/CAST family member 1 - ERC1 ER membrane associated RNA degradation - ERMARD exostosin glycosyltransferase 1 - EXT1 exostosin glycosyltransferase 2 - EXT2 Fas associated via death domain - FADD fibroblast growth factor 3 - FGF3 Fli-1 proto-oncogene, ETS transcription factor - FLI1 FLII actin remodeling protein - FLII forkhead box G1 - FOXG1 forkhead box P2 - FOXP2 gamma-aminobutyric acid type A receptor delta subunit - GABRD GATA binding protein 3 - GATA3 GATA binding protein 4 - GATA4 glycoprotein Ib platelet subunit beta - GP1BB general transcription factor IIi - GTF2I GTF2I repeat domain containing 1 - GTF2IRD1 H19 imprinted maternally expressed transcript - H19 hemoglobin subunit alpha 1 - HBA1 hemoglobin subunit alpha 2 - HBA2 histone deacetylase 4 - HDAC4 HIC ZBTB transcriptional repressor 1 - HIC1 histone cell cycle regulator - HIRA high mobility group AT-hook 2 - HMGA2 HNF1 homeobox B - HNF1B heterogeneous nuclear ribonucleoprotein K - HNRNPK heterogeneous nuclear ribonucleoprotein U - HNRNPU IQ motif and Sec7 domain 2 - IQSEC2 jagged canonical Notch ligand 1 - JAG1 jumonji domain containing 1C - JMJD1C KAT8 regulatory NSL complex subunit 1 - KANSL1 potassium voltage-gated channel subfamily A regulatory beta subunit 2 - KCNAB2 kinesin family member 15 - KIF15 LEM domain containing 3 - LEMD3 leucine zipper and EF-hand containing transmembrane protein 1 - LETM1 LIM homeobox 1 - LHX1 LIM domain kinase 1 - LIMK1 LIM homeobox transcription factor 1 beta - LMX1B MAGE family member L2 - MAGEL2 mitogen-activated protein kinase 1 - MAPK1 methyl-CpG binding domain protein 5 - MBD5 multiple C2 and transmembrane domain containing 2 - MCTP2 myocyte enhancer factor 2C - MEF2C maternally expressed 3 - MEG3 Meis homeobox 2 - MEIS2 necdin, MAGE family member - NDN negative elongation factor complex member A - NELFA neurofibromin 1 - NF1 nuclear factor I A - NFIA NK2 homeobox 5 - NKX2-5 nuclear receptor binding SET domain protein 1 - NSD1 nuclear receptor binding SET domain protein 2 - NSD2 OCA2 melanosomal transmembrane protein - OCA2 platelet activating factor acetylhydrolase 1b regulatory subunit 1 - PAFAH1B1 paired box 6 - PAX6 PHD finger protein 21A - PHF21A polycystin 1, transient receptor potential channel interacting - PKD1 peripheral myelin protein 22 - PMP22 protein phosphatase, Mg2+/Mn2+ dependent 1B - PPM1B PR/SET domain 16 - PRDM16 prolyl endopeptidase like - PREPL proteasome 26S subunit, non-ATPase 12 - PSMD12 patched 1 - PTCH1 phosphatase and tensin homolog - PTEN poly(U) binding splicing factor 60 - PUF60 purine rich element binding protein A - PURA retinoic acid induced 1 - RAI1 RB transcriptional corepressor 1 - RB1 arginine-glutamic acid dipeptide repeats - RERE replication factor C subunit 2 - RFC2 ras responsive element binding protein 1 - RREB1 retrotransposon Gag like 1 - RTL1 spalt like transcription factor 4 - SALL4 SATB homeobox 2 - SATB2 SEC24 homolog C, COPII coat complex component - SEC24C semaphorin 5A - SEMA5A SET domain containing 2, histone lysine methyltransferase - SETD2 SH2B adaptor protein 1 - SH2B1 SH3 and multiple ankyrin repeat domains 3 - SHANK3 SIM bHLH transcription factor 1 - SIM1 SIN3 transcription regulator family member A - SIN3A SKI proto-oncogene - SKI solute carrier family 3 member 1 - SLC3A1 small nucleolar RNA, C/D box 115 cluster - SNORD115@ small nucleolar RNA, C/D box 116 cluster - SNORD116@ small nuclear ribonucleoprotein polypeptide N - SNRPN SRY-box 5 - SOX5 stereocilin - STRC syntaxin binding protein 1 - STXBP1 transducin beta like 2 - TBL2 T-box, brain 1 - TBR1 T-box 1 - TBX1 T-box 4 - TBX4 transcriptional repressor GATA binding 1 - TRPS1 TSC complex subunit 2 - TSC2 ubiquitin protein ligase E3A - UBE3A ubiquitin recognition factor in ER associated degradation 1 - UFD1 ubiquitin specific peptidase 7 - USP7 WW domain containing adaptor with coiled-coil - WAC WT1 transcription factor - WT1 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon - YWHAE zinc finger and BTB domain containing 18 - ZBTB18 zinc finger E-box binding homeobox 2 - ZEB2
