Orphanet: Genes
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182 Result(s)
ATP binding cassette subfamily A member 5 - ABCA5 ATP binding cassette subfamily C member 6 - ABCC6 activin A receptor like type 1 - ACVRL1 ADAM metallopeptidase with thrombospondin type 1 motif 17 - ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif 2 - ADAMTS2 AE binding protein 1 - AEBP1 aldehyde dehydrogenase 18 family member A1 - ALDH18A1 ANTXR cell adhesion molecule 1 - ANTXR1 ANTXR cell adhesion molecule 2 - ANTXR2 ATM serine/threonine kinase - ATM ATPase H+ transporting V0 subunit a2 - ATP6V0A2 ATPase H+ transporting V1 subunit A - ATP6V1A ATPase H+ transporting V1 subunit B2 - ATP6V1B2 ATPase H+ transporting V1 subunit E1 - ATP6V1E1 ATPase copper transporting alpha - ATP7A beta-1,3-galactosyltransferase 6 - B3GALT6 beta-1,4-galactosyltransferase 7 - B4GALT7 B-Raf proto-oncogene, serine/threonine kinase - BRAF complement C1r - C1R complement C1s - C1S cadherin 1 - CDH1 cadherin 3 - CDH3 ceramide synthase 3 - CERS3 carbohydrate sulfotransferase 14 - CHST14 collagen type XI alpha 1 chain - COL11A1 collagen type XII alpha 1 chain - COL12A1 collagen type XVII alpha 1 chain - COL17A1 collagen type I alpha 1 chain - COL1A1 collagen type I alpha 2 chain - COL1A2 collagen type III alpha 1 chain - COL3A1 collagen type V alpha 1 chain - COL5A1 collagen type V alpha 2 chain - COL5A2 collagen type VII alpha 1 chain - COL7A1 cytochrome c oxidase subunit 7B - COX7B cystatin B - CSTB CST telomere replication complex component 1 - CTC1 catenin delta 1 - CTNND1 cathepsin C - CTSC cytochrome P450 family 26 subfamily C member 1 - CYP26C1 damage specific DNA binding protein 2 - DDB2 dyskerin pseudouridine synthase 1 - DKC1 distal-less homeobox 3 - DLX3 dermatan sulfate epimerase - DSE desmoplakin - DSP dynein cytoplasmic 2 light intermediate chain 1 - DYNC2LI1 extracellular matrix protein 1 - ECM1 ectodysplasin A - EDA ectodysplasin A2 receptor - EDA2R ectodysplasin A receptor - EDAR EDAR associated death domain - EDARADD endothelin receptor type B - EDNRB EGF containing fibulin extracellular matrix protein 2 - EFEMP2 elastin - ELN endoglin - ENG ectonucleotide pyrophosphatase/phosphodiesterase 1 - ENPP1 ERCC excision repair 1, endonuclease non-catalytic subunit - ERCC1 ERCC excision repair 2, TFIIH core complex helicase subunit - ERCC2 ERCC excision repair 3, TFIIH core complex helicase subunit - ERCC3 ERCC excision repair 4, endonuclease catalytic subunit - ERCC4 ERCC excision repair 5, endonuclease - ERCC5 ERCC excision repair 6, chromatin remodeling factor - ERCC6 ERCC excision repair 8, CSA ubiquitin ligase complex subunit - ERCC8 EvC ciliary complex subunit 1 - EVC EvC ciliary complex subunit 2 - EVC2 exostosin glycosyltransferase 1 - EXT1 fibulin 5 - FBLN5 fibroblast growth factor 10 - FGF10 fibroblast growth factor receptor 2 - FGFR2 fibroblast growth factor receptor 3 - FGFR3 FKBP prolyl isomerase 14 - FKBP14 filamin A - FLNA growth differentiation factor 2 - GDF2 gap junction protein alpha 1 - GJA1 gap junction protein beta 2 - GJB2 gap junction protein beta 6 - GJB6 GLI family zinc finger 1 - GLI1 golgin, RAB6 interacting - GORAB grainyhead like transcription factor 2 - GRHL2 general transcription factor IIE subunit 2 - GTF2E2 general transcription factor IIH subunit 5 - GTF2H5 holocytochrome c synthase - HCCS homeobox C13 - HOXC13 HRas proto-oncogene, GTPase - HRAS intraflagellar transport 122 - IFT122 intraflagellar transport 43 - IFT43 intraflagellar transport 52 - IFT52 inhibitor of nuclear factor kappa B kinase regulatory subunit gamma - IKBKG integrin subunit alpha 6 - ITGA6 integrin subunit beta 4 - ITGB4 potassium channel tetramerization domain containing 1 - KCTD1 keratinocyte differentiation factor 1 - KDF1 KIT ligand - KITLG KRAS proto-oncogene, GTPase - KRAS keratin 14 - KRT14 keratin 16 - KRT16 keratin 17 - KRT17 keratin 6A - KRT6A keratin 6B - KRT6B keratin 74 - KRT74 keratin 85 - KRT85 laminin subunit alpha 3 - LAMA3 laminin subunit beta 3 - LAMB3 laminin subunit gamma 2 - LAMC2 DNA ligase 4 - LIG4 lamin A/C - LMNA latent transforming growth factor beta binding protein 4 - LTBP4 mitogen-activated protein kinase kinase 1 - MAP2K1 mitogen-activated protein kinase kinase 2 - MAP2K2 membrane bound transcription factor peptidase, site 2 - MBTPS2 melanocyte inducing transcription factor - MITF matrix metallopeptidase 1 - MMP1 M-phase specific PLK1 interacting protein - MPLKIP msh homeobox 1 - MSX1 myosin VA - MYO5A NADH:ubiquinone oxidoreductase subunit B11 - NDUFB11 nectin cell adhesion molecule 1 - NECTIN1 nectin cell adhesion molecule 4 - NECTIN4 NFKB inhibitor alpha - NFKBIA NHP2 ribonucleoprotein - NHP2 NOP10 ribonucleoprotein - NOP10 nucleophosmin 1 - NPM1 NAD(P) dependent steroid dehydrogenase-like - NSDHL NOP2/Sun RNA methyltransferase 2 - NSUN2 OFD1 centriole and centriolar satellite protein - OFD1 poly(A)-specific ribonuclease - PARN paired box 3 - PAX3 proliferating cell nuclear antigen - PCNA peroxisomal biogenesis factor 1 - PEX1 peroxisomal biogenesis factor 6 - PEX6 phosphatidylinositol glycan anchor biosynthesis class L - PIGL plakophilin 1 - PKP1 plectin - PLEC procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 - PLOD1 patatin like phospholipase domain containing 6 - PNPLA6 DNA polymerase epsilon, catalytic subunit - POLE DNA polymerase eta - POLH RNA polymerase III subunit A - POLR3A porcupine O-acyltransferase - PORCN PR/SET domain 5 - PRDM5 protein tyrosine phosphatase non-receptor type 11 - PTPN11 pyrroline-5-carboxylate reductase 1 - PYCR1 Raf-1 proto-oncogene, serine/threonine kinase - RAF1 Ras and Rab interactor 2 - RIN2 receptor interacting serine/threonine kinase 4 - RIPK4 RNA component of mitochondrial RNA processing endoribonuclease - RMRP ring finger protein 113A - RNF113A rogdi atypical leucine zipper - ROGDI R-spondin 4 - RSPO4 regulator of telomere elongation helicase 1 - RTEL1 SAM and SH3 domain containing 1 - SASH1 SET binding protein 1 - SETBP1 solute carrier family 13 member 5 - SLC13A5 solute carrier family 25 member 24 - SLC25A24 solute carrier family 2 member 10 - SLC2A10 solute carrier family 39 member 13 - SLC39A13 solute carrier family 39 member 4 - SLC39A4 SMAD family member 4 - SMAD4 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 - SMARCAD1 snail family transcriptional repressor 2 - SNAI2 SRY-box 10 - SOX10 SRY-box 3 - SOX3 threonyl-tRNA synthetase 1 - TARS1 TBC1 domain family member 24 - TBC1D24 telomerase RNA component - TERC telomerase reverse transcriptase - TERT TERF1 interacting nuclear factor 2 - TINF2 tenascin XB - TNXB tumor protein p63 - TP63 TNF receptor associated factor 6 - TRAF6 transcriptional repressor GATA binding 1 - TRPS1 twist family bHLH transcription factor 2 - TWIST2 ubiquitin protein ligase E3 component n-recognin 1 - UBR1 U6 snRNA biogenesis phosphodiesterase 1 - USB1 WD repeat domain 19 - WDR19 WD repeat domain 35 - WDR35 Wnt family member 10A - WNT10A WD repeat containing antisense to TP53 - WRAP53 WRN RecQ like helicase - WRN XPA, DNA damage recognition and repair factor - XPA XPC complex subunit, DNA damage recognition and repair factor - XPC zinc metallopeptidase STE24 - ZMPSTE24 zinc finger protein 469 - ZNF469
