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Dermatology

Resultado búsqueda

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Albinismo

32 genes

AP3B1, AP3D1, BLOC1S3, BLOC1S6, CACNA1F, DTNBP1, EDNRB, FRMD7, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, MC1R, MITF, MLPH, MYO5A, NYX, OCA2, PAX3, PAX6, RAB27A, SLC24A5, SLC38A8, SLC45A2, SNAI2, SOX10, TYR, TYRP1

Anhidrosis

21 genes

BCS1L, COQ2, EDA, EDAR, EDARADD, ERCC6, ERCC8, FUCA1, ITPR2, KIF1A, MBTPS2, NFKBIA, NGF, NGLY1, NTRK1, RETREG1, SCN9A, SPTLC2, TP63, TRPV3, WNK1

Cutis laxa

13 genes

ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1, RIN2, SLC2A10

Dermatitis atópica

13 genes

BRAF, CARD11, DOCK8, FOXN1, HSPA9, IFIH1, MORC2, NEK9, PGM3, SCNN1A, SCNN1B, SCNN1G, ZNF341

Displasias ectodérmicas

35 genes

AXIN2, BCS1L, CDH3, DSP, EDA, EDAR, EDARADD, ERCC2, EVC, EVC2, GJB2, GJB6, HOXC13, HR, IFT122, IKBKG, JUP, KRT14, KRT74, KRT85, LRP6, MPLKIP, MSX1, NECTIN1, NECTIN4, NFKBIA, PAX9, PKP1, PORCN, PRKD1, TP63, TRAF6, TWIST2, WDR35, WNT10A

Disqueratosis congénita

15 genes

ACD, CTC1, DKC1, DNAJC21, GRHL2, NHP2, NOP10, NPM1, PARN, POT1, RTEL1, TERT, TINF2, USB1, WRAP53

Epidermolisis bullosa

26 genes

CD151, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT1, KRT10, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, TGM5

Ictiosis

124 genes

ABCA12, ABHD5, AHSG, ALDH3A2, ALOX12B, ALOXE3, ANOS1, AP1S1, ARSL, BLM, BRAF, CARD14, CASP14, CCDC141, CDSN, CERS3, CHD7, CHKB, CLDN1, COL4A5, CSTA, CYP4F22, DNAJC21, DOLK, DSP, DUSP6, EBP, EFL1, ERCC2, ERCC3, FERMT1, FEZF1, FGF17, FGF8, FGFR1, FLG, FLRT3, GBA, GJA1, GJB2, GJB3, GJB4, GJB6, GTF2H5, HESX1, HRAS, HS6ST1, IL17RD, ITGB6, KDSR, KISS1R, KRAS, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT9, LIPN, LORICRIN, MAP2K1, MAP2K2, MBTPS2, MPLKIP, MSMO1, NEK9, NIPAL4, NLRP3, NOD2, NRAS, NSDHL, NSMF, ORAI1, OSMR, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHGDH, PHYH, PIGA, PNPLA1, POMP, PROK2, PROKR2, PSAT1, RIN2, SBDS, SDR9C7, SEMA3A, SHOC2, SLC27A4, SLC29A3, SLURP1, SNAP29, SOX10, SPINK5, SPRY4, SRD5A3, ST14, STIM1, STS, SULT2B1, SUMF1, TACR3, TGM1, TGM5, TMPRSS6, VIPAS39, VPS33B, WDR11

Psoriasis pustulosa

6 genes

CARD14, IL17A, IL1B, IL1RN, IL36RN, PI3

Queratodermia palmoplantar

44 genes

AAGAB, ABCA12, ALOX12B, AQP5, ATP2A2, CAST, COL14A1, CSTA, CTSC, DSC2, DSG1, DSP, FERMT1, GJA1, GJB2, GJB3, GJB4, GJB6, JUP, KANK2, KRT1, KRT10, KRT14, KRT16, KRT17, KRT5, KRT6A, KRT6B, KRT6C, KRT9, LORICRIN, MBTPS2, NLRP1, PIK3CA, PKP1, POMP, RSPO1, SERPINB7, SLURP1, SNAP29, TGM1, TP63, TRPV3, WNT10A

Síndrome de Adams-Oliver

8 genes

ARHGAP31, DLL4, DOCK6, EOGT, KCTD1, NOTCH1, RBPJ, UBR1

Síndrome de Waardenburg

7 genes

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

Telangiectasia hemorrágica hereditaria

5 genes

ACVRL1, ENG, EPHB4, GDF2, SMAD4

Xerodermia pigmentosa

22 genes

ADAR, C8A, DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FUBP1, GORAB, GTF2E2, GTF2H5, MPLKIP, MRE11, POLH, RNF113A, UVSSA, XPA, XPC

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