



Dermatology
Resultado búsqueda

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