Enfermedades dermatológicas

AP3B1, BLOC1S3, BLOC1S5, BLOC1S6, DTNBP1, EDN3, EDNRB, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, MC1R, MITF, MLPH, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC38A8, SLC45A2, TYR, TYRP1

ABCB11, ABCB4, ABCC2, ABCC6, ABCG5, ABCG8, ABL1, ACTA2, ACVR1, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL4, AEBP1, AKR1D1, ALDH18A1, ALDOB, ALPL, AMACR, ARIH1, ATP6V0A2, ATP7A, ATP8B1, B3GALT6, B3GAT3, B4GALT7, BAAT, BGN, C1R, C1S, CBS, CC2D2A, CFTR, CHST14, CHST3, CLDN1, COG7, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, CREB3L1, CREB3L3, CRTAP, CSGALNACT1, CYP27A1, CYP7A1, CYP7B1, DCDC2, DCHS1, DGUOK, DHCR7, DSE, EFEMP2, EHHADH, ELN, EPHX1, FAH, FBLN5, FBN1, FBN2, FGFR3, FKBP14, FLCN, FLNA, FLNB, FMR1, FOXE3, GGCX, GORAB, GPBAR1, HCN4, HNF1B, HSD17B4, HSD3B7, IMPAD1, INVS, ITGB4, JAG1, KCNJ2, KIF22, LAMA3, LAMB3, LAMC2, LCT, LEMD3, LIPA, LMF1, LOX, LRP2, LTBP1, LTBP2, LTBP3, LTBP4, LZTS1, MAT2A, MBTPS2, MED12, MFAP5, MKS1, MPV17, MYH11, MYLK, MYO5B, NOG, NOTCH1, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, NT5E, P3H1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKD2, PKHD1, PLOD1, PLOD3, PLP1, POLG, PRDM5, PRKG1, PYCR1, RIN2, SCP2, SERPINA1, SERPING1, SHOC2, SKI, SLC10A1, SLC10A2, SLC25A13, SLC26A2, SLC27A5, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SMPD1, SMS, SP7, TAB2, TALDO1, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TJP2, TMEM216, TNFRSF1A, TNXB, TRMU, UGT1A1, UPF3B, VCAN, VIPAS39, VPS33B, WNT1, ZNF469

ALDH18A1, ATP6V0A2, ATP7A, COG7, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PTDSS1, PYCR1, RIN2, SLC2A10, TALDO1

ABCC9, AIRE, APCDD1, AR, AXIN2, BCS1L, BRAF, CDH3, CDSN, COG6, COL11A1, CREBBP, CTSC, CTSK, DKC1, DLX3, DLX5, DOCK8, DSC2, DSG4, DSP, EDA, EDA2R, EDAR, EDARADD, ERCC2, ERCC3, EVC, EVC2, FGF10, FGFR2, FGFR3, FLNA, FOXN1, FZD6, GATA3, GJA1, GJB2, GJB6, GRHL2, HOXC13, HR, HRAS, IFT122, IFT43, IKBKG, INSR, IRF6, JUP, KRAS, KRT1, KRT14, KRT16, KRT17, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT81, KRT83, KRT85, KRT86, KRT9, LIPH, LPAR6, LRP6, LTBP3, MAP2K1, MAP2K2, MBTPS2, MPLKIP, MSX1, NECTIN1, NECTIN4, NFKB2, NFKBIA, NLRP1, NME1, NOP10, NTRK1, OFD1, PAX9, PIGL, PKP1, PORCN, PRKD1, RECQL4, RHBDF2, RSPO4, SATB2, SHH, SHOC2, SMARCAD1, SMOC2, SNRPE, TBX3, TERT, TINF2, TP63, TRAF6, TRPS1, TSPEAR, TWIST2, UBR1, WDR19, WDR35, WNT10A, WNT10B, WNT7A

AK2, CTC1, DKC1, GRHL2, LIG4, NHP2, NOP10, PARN, POT1, RTEL1, TERT, TINF2, TYMS, USB1, WRAP53

MLPH, MYO5A, RAB27A

AAGAB, ABCA12, ABCA3, ABCA5, ABCC6, ABCC9, ABHD5, ABL1, ACTA2, ACVR1, ACVRL1, ADAM17, ADAMTS10, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL4, AEBP1, AGPAT2, AIRE, AK2, AKT2, ALAD, ALAS2, ALDH18A1, ALDH3A2, ALG8, ALOX12B, ALOXE3, ALPL, ANTXR1, AP1S1, AP3B1, AP3D1, APC, APCDD1, AQP5, AR, ARHGAP31, ARID1B, ARID2, ARIH1, ARSE, ATM, ATP2C1, ATP6V0A2, ATP6V1B2, ATP7A, AXIN2, B3GALT6, B3GAT3, B4GALT7, BANF1, BAP1, BCS1L, BGN, BLM, BLOC1S3, BLOC1S5, BLOC1S6, BMP1, BMP4, BMPR1A, BMPR2, BRAF, BSCL2, C1R, C1S, CABIN1, CANT1, CAST, CAV1, CAVIN1, CBS, CD151, CDH1, CDH3, CDK4, CDKN2A, CDSN, CERS3, CHKB, CHST14, CHST3, CHST8, CHUK, CIDEC, CLCN7, CLDN1, COG6, COG7, COL11A1, COL11A2, COL12A1, COL17A1, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL9A1, COL9A2, COL9A3, COQ6, CPOX, CREBBP, CRTAP, CRYL1, CSF2RA, CSGALNACT1, CST3, CST6, CSTA, CTC1, CTNND1, CTSC, CTSK, CYP4F22, DCHS1, DDB2, DICER1, DKC1, DLG4, DLL4, DLX3, DLX5, DOCK6, DOCK8, DSC2, DSE, DSG1, DSG2, DSG4, DSP, DST, DTNBP1, EBP, EDA, EDA2R, EDAR, EDARADD, EDN3, EDNRB, EFEMP2, EGFR, ELMOD2, ELN, ELOVL4, ENG, ENPP1, EOGT, EPCAM, EPG5, EPHB4, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EVC, EVC2, EXOC6B, EXPH5, FBLN5, FBN1, FBN2, FECH, FERMT1, FGD1, FGF10, FGFR2, FGFR3, FKBP10, FKBP14, FLCN, FLG, FLNA, FLNB, FLT4, FMR1, FOXE3, FOXN1, FREM1, FZD6, GALNS, GATA3, GBA, GDF2, GGCX, GJA1, GJB2, GJB3, GJB4, GJB6, GORAB, GPR143, GRHL2, GRHL3, GRIP1, GTF2H5, HCN4, HMBS, HOXC13, HPS1, HPS3, HPS4, HPS5, HPS6, HR, HRAS, IFITM5, IFT122, IFT43, IKBKG, IMPAD1, INSR, IRF6, ITGA3, ITGA6, ITGB4, JUP, KANK2, KCNJ2, KCNJ6, KCTD1, KDM6A, KDR, KDSR, KIF22, KIT, KITLG, KMT2D, KRAS, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT81, KRT83, KRT85, KRT86, KRT9, LAMA3, LAMB3, LAMC2, LEMD3, LIG4, LIPH, LIPN, LMNA, LMNB2, LOR, LOX, LPAR6, LRMDA, LRP2, LRP6, LTBP1, LTBP2, LTBP3, LTBP4, LYST, LZTR1, LZTS1, MAP2K1, MAP2K2, MAT2A, MBTPS2, MC1R, MED12, MFAP5, MITF, MLH1, MLPH, MMP1, MMP2, MPLKIP, MSH2, MSH6, MSX1, MUC5B, MYH11, MYH7, MYH9, MYLK, MYO5A, NAA10, NDUFB11, NECTIN1, NECTIN4, NF1, NF2, NFKB2, NFKBIA, NHP2, NIPAL4, NKX2-1, NLRP1, NME1, NOG, NOP10, NOTCH1, NOTCH3, NRAS, NSDHL, NT5E, NTRK1, OCA2, OFD1, OSMR, P3H1, PARN, PAX3, PAX9, PDGFRB, PEX1, PEX7, PHGDH, PHYH, PIGA, PIGL, PIK3R1, PKD2, PKP1, PLCD1, PLEC, PLIN1, PLOD1, PLOD2, PLOD3, PLP1, PNPLA1, POC1A, POLD1, POLH, POLR3A, POMP, PORCN, POT1, PPARG, PPIB, PPOX, PRDM5, PRKAR1A, PRKD1, PRKG1, PSAT1, PTCH1, PTCH2, PTDSS1, PTEN, PTH1R, PTPN11, PTPN14, PYCR1, RAB27A, RAF1, RASA1, RBPJ, RECQL4, RHBDF2, RIN2, RIPK4, RIT1, RNF113A, ROGDI, RPL21, RSPO1, RSPO4, RTEL1, RYR1, SATB2, SERPINB7, SERPING1, SERPINH1, SETBP1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SHH, SHOC2, SKI, SLC24A5, SLC26A2, SLC27A4, SLC2A10, SLC30A2, SLC38A8, SLC39A13, SLC39A4, SLC45A2, SLURP1, SMAD2, SMAD3, SMAD4, SMAD6, SMARCA4, SMARCAD1, SMARCB1, SMARCC2, SMARCE1, SMOC2, SMS, SNAI2, SNAP29, SNRPE, SOS1, SOS2, SOX10, SOX11, SOX18, SOX4, SP7, SPINK5, SPRED1, SQSTM1, SRD5A3, SREBF1, SSPN, ST14, STIM1, STS, SUFU, SULT2B1, SUMF1, TAB2, TALDO1, TAT, TBC1D24, TBC1D4, TBX3, TERT, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2, TGM1, TGM5, TINF2, TNFRSF11A, TNFRSF1A, TNXB, TP53, TP63, TRAF6, TREM2, TRPS1, TRPV3, TSC1, TSC2, TSPEAR, TTN, TWIST2, TYMP, TYMS, TYR, TYROBP, TYRP1, UBR1, UPF3B, UROD, UROS, USB1, VCAN, VHL, VIPAS39, VPS33B, WDR19, WDR35, WNK1, WNT10A, WNT10B, WNT7A, WRAP53, WRN, XPA, XPC, XRCC3, XYLT1, ZMPSTE24, ZNF469, ZNF750

ATP2C1, CAST, CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSG1, DSG2, DSG4, DSP, DST, EXPH5, FERMT1, GRIP1, ITGA3, ITGA6, ITGB4, JUP, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, TGM5

ABCA12, ABHD5, ALDH3A2, ALG8, ALOX12B, ALOXE3, AP1S1, ARSE, CDSN, CERS3, CHKB, CLDN1, CSTA, CYP4F22, EBP, ELOVL4, ERCC2, ERCC3, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GTF2H5, KDSR, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MBTPS2, MPLKIP, NIPAL4, NSDHL, OSMR, PEX7, PHYH, PIGA, PIGL, PNPLA1, POMP, PSAT1, RIN2, SHOC2, SLC27A4, SLURP1, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SULT2B1, SUMF1, TGM1, TGM5, VIPAS39, VPS33B

TSC1, TSC2

APC, ATM, DICER1, EPCAM, HRAS, IKBKG, LZTR1, MLH1, MSH2, MSH6, NF1, NF2, POT1, PRKAR1A, PTCH1, PTCH2, PTEN, SMARCA4, SMARCB1, SMARCE1, SPRED1, SUFU, TP53, TSC1, TSC2, VHL, WRN

ANTXR1, FLT4, KDR

ABCC6, ACTA2, ADAMTS10, ADAMTS2, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B4GALT7, BGN, BMP1, BRAF, C1R, C1S, CANT1, CBS, CHST14, COL11A1, COL11A2, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL9A1, COL9A2, COL9A3, CRTAP, CST3, DLG4, DSE, EFEMP2, ELN, EXOC6B, FBLN5, FBN1, FBN2, FGD1, FGFR3, FKBP10, FKBP14, FLNA, FLNB, FMR1, FOXE3, GALNS, GORAB, HRAS, IFITM5, IMPAD1, KDM6A, KIF22, KMT2D, KRAS, LOX, LTBP2, LTBP4, LZTR1, MAP2K1, MAP2K2, MED12, MYH11, MYH7, MYLK, NOTCH1, NOTCH3, NRAS, P3H1, PLOD1, PLOD2, PLOD3, PPIB, PRDM5, PRKG1, PTPN11, PYCR1, RAF1, RIN2, RIT1, RYR1, SERPINH1, SKI, SLC26A2, SLC2A10, SLC39A13, SMAD2, SMAD3, SMAD4, SMAD6, SOS1, SOS2, SP7, SSPN, TGFB2, TGFB3, TGFBR1, TGFBR2, TNXB, TRPS1, TTN, TYMP, VCAN, XYLT1, ZNF469

AAGAB, ABCA12, ALOX12B, ALOXE3, AP1S1, AQP5, BRAF, CAST, CSTA, CTSC, CYP4F22, DSG1, DSG4, DSP, ELOVL4, ENPP1, ERCC2, EXPH5, FKBP14, GJA1, GJB2, GJB3, GJB4, GJB6, GRHL2, INSR, JUP, KANK2, KDSR, KITLG, KRT1, KRT10, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT83, KRT9, LIPN, LOR, MAP2K1, MAP2K2, MBTPS2, NECTIN1, NECTIN4, NIPAL4, PDGFRB, PKP1, PLEC, PNPLA1, PTEN, RHBDF2, RSPO1, SERPINB7, SLC27A4, SLURP1, SMARCAD1, SNAP29, SREBF1, ST14, SULT2B1, TAT, TERT, TGM1, TP63, TRPV3, USB1, VPS33B, WNT10A, ZMPSTE24

APCDD1, CDSN, DSG4, KRT71, KRT74, LIPH, LPAR6, RPL21, SNRPE

ABCA12, ABHD5, ALDH3A2, ALG8, ALOX12B, ALOXE3, AP1S1, ARSE, CDSN, CERS3, CHKB, CLDN1, CSTA, CYP4F22, EBP, ELOVL4, ERCC2, ERCC3, FLG, GBA, GJA1, GJB2, GJB3, GJB4, GTF2H5, KDSR, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MBTPS2, MPLKIP, NIPAL4, NSDHL, OSMR, PEX7, PHYH, PIGA, PIGL, PNPLA1, POMP, PSAT1, RIN2, SHOC2, SLC27A4, SLURP1, SNAP29, SPINK5, SRD5A3, ST14, STIM1, STS, SULT2B1, SUMF1, TGM1, TGM5, VIPAS39, VPS33B

CABIN1, CCND1, COQ6, KIT, KITLG, LZTR1, NF1, NF2, PRKAR1A, PTPN11, RAF1, SMARCB1, SPRED1, TSC1, TSC2, VHL

AAGAB, KRT16, KRT17, KRT6A, KRT6B, KRT6C, TRPV3

AGPAT2, AKT2, ALDH18A1, B3GALT6, B4GALT7, BANF1, BLM, BSCL2, CAV1, CAVIN1, CIDEC, COL3A1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, GJA1, GORAB, INSR, KCNJ6, LMNA, LMNB2, MMP2, NAA10, PDGFRB, PIK3R1, PLIN1, POLD1, PPARG, PYCR1, RECQL4, RNF113A, SQSTM1, TBC1D4, TNFRSF11A, TREM2, TYROBP, WNK1, WRN, ZMPSTE24

ABCC6, ENPP1, GGCX

AP1S3, CARD14, IL36RN, TRAF3IP2

AAGAB, AQP5, CAST, CRYL1, CTSC, DSG1, DSP, ENPP1, GJB2, GJB4, GJB6, JUP, KRT1, KRT14, KRT16, KRT17, KRT6A, KRT6B, KRT6C, KRT9, LOR, MBTPS2, PKP1, POMP, RHBDF2, RSPO1, SERPINB7, SLURP1, SMARCAD1, SNAP29, TAT, TRPV3, VPS33B, WNT10A

BRAF, KRAS, MAP2K1, MAP2K2, SHOC2, SOS1

ARHGAP31, DLL4, DOCK6, DSP, EOGT, ITGA6, ITGB4, KCTD1, KRAS, KRT5, MYH9, NOTCH1, RBPJ, UBR1

ABCC6, ACTA2, ADAMTS2, ADAMTSL2, AEBP1, ALDH18A1, ATP6V0A2, ATP7A, B3GALT6, B3GAT3, B4GALT7, BGN, C1R, C1S, CBS, CHST14, CHST3, COL11A1, COL12A1, COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL6A2, COL6A3, CRTAP, DSE, EFEMP2, ELN, FBLN5, FBN1, FBN2, FKBP14, FLNA, FLNB, GGCX, GORAB, LOX, LTBP4, LZTS1, P3H1, PLOD1, PLP1, PRDM5, PYCR1, RIN2, ROBO3, SKI, SLC2A10, SLC39A13, SMAD2, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2, TNFRSF1A, TNXB, ZNF469

ABCA3, AP3B1, AP3D1, BLOC1S3, BLOC1S5, BLOC1S6, DKC1, DTNBP1, ELMOD2, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, NKX2-1, OCA2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC45A2, TERT, TINF2, TYR, TYRP1

CARD11, DOCK8, DSG1, IL6R, IL6ST, PGM3, SPINK5, STAT3, TYK2

EDN3, EDNRB, KIT, MITF, PAX3, SNAI2, SOX10, TYR

ACVRL1, ADAM17, BMPR1A, BMPR2, ENG, EPHB4, GDF2, PTPN14, RASA1, SMAD4

ERCC2, ERCC3, GTF2H5, MPLKIP, RNF113A

DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, POLH, XPA, XPC