



Oftalmología

Resultado búsqueda
Albinismo oculo-cutáneo
7 genes
LRMDA, MC1R, OCA2, SLC24A5, SLC45A2, TYR, TYRP1
Amaurosis congénita de Leber
20 genes
AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D, IMPDH1, KCNJ13, LCA5, LRAT, NMNAT1, PRPH2, RD3, RDH12, ROM1, RPE65, RPGRIP1, SPATA7, TULP1, USP45
Amiloidosis familiar
21 genes
APOA1, APOA2, APP, B2M, CST3, F10, FGA, GPNMB, GSN, IL31RA, ITM2B, LYZ, MEFV, NLRP3, OSMR, PRNP, RET, TACSTD2, TGFBI, TNFRSF1A, TTR
Atrofia óptica
59 genes
ACO2, AFG3L2, ANTXR1, ATP1A3, AUH, BCS1L, C12ORF65, CISD2, COX10, COX15, DNM1L, EDN1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FDXR, FOXRED1, GLRX5, GP1BA, MFN2, MTPAP, MYOC, NBAS, NDUFA1, NDUFA10, NDUFA13, NDUFA2, NDUFA9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS8, NEFH, NMNAT1, NOTCH3, NR2F1, OPA1, OPA3, PAX6, PDSS1, PLA2G6, POLG, PRPS1, RTN4IP1, SDHA, SLC25A46, SLC52A2, SNX10, SPG7, SURF1, TIMM8A, TMEM126A, TSFM, TWNK, WFS1, ZNF592
Cataratas
131 genes
ABHD12, ADAMTSL4, AGK, ALDH18A1, BCOR, BEST1, BFSP1, BFSP2, BUB1B, CHMP4B, CLPB, COL11A1, COL18A1, COL2A1, COL4A1, COL9A2, CREBBP, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGA, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, DAG1, DHCR7, DMPK, EPHA2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC8, EYA1, FAM126A, FBN1, FKTN, FLNB, FOXC1, FOXE3, FTL, FYCO1, FZD4, GALK1, GALT, GCNT2, GFER, GJA1, GJA3, GJA8, GMPPB, GNPAT, HCCS, HMX1, HSF4, IARS2, JAM3, KCNJ13, LARGE1, LCT, LEMD2, LIM2, LMX1B, LRP5, LSS, MAF, MIP, MSMO1, MVK, MYH9, NDP, NF2, NHS, OCRL, OPA3, OTX2, P3H2, PAX6, PEX1, PEX11B, PEX12, PEX13, PEX16, PEX2, PEX26, PEX3, PEX5, PEX7, PITX2, PITX3, POMGNT1, POMT1, POMT2, PTCH1, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RECQL4, RXYLT1, SC5D, SEC23A, SIL1, SIPA1L3, SIX6, SLC16A12, SLC2A1, SLC33A1, SLC4A4, TBC1D20, TDRD7, TFAP2A, TMEM114, TMEM70, UNC45B, VCAN, VIM, VSX2, WFS1, WNT3, WRN, WT1
Diplopía
65 genes
AGRN, AIP, ANO10, ATP1A2, ATXN3, CACNA1A, CACNA1G, CDH23, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, DARS2, DNAJC6, DOK7, EIF4G1, ERCC2, ERCC3, ERCC4, ERCC5, GBA, GIGYF2, HLA-DQB1, HLA-DRB1, HTRA2, KCNA1, KCND3, LRP4, LRRK2, MAPT, MEN1, MUSK, MYO5A, MYO9A, NFKB2, NOP56, PARK7, PDCD1, PINK1, PRKN, PRNP, PTPN22, PUM1, RAPSN, SCN4A, SERPINI1, SLC18A3, SLC1A3, SLC25A1, SLC2A1, SLC5A7, SNAP25, SNCA, SPTBN2, SYT2, TGFB1, TMEM240, TOP3A, TPP1, UCHL1, VAMP1, VPS13C, VPS35
Displasia septo-óptica
11 genes
ARNT2, FGFR1, HESX1, LHX3, LHX4, OTX2, POU1F1, PROKR2, PROP1, SOX2, SOX3
Distrofia de retina
268 genes
ABCA4, ABCC6, ABHD12, ACBD5, ACO2, ADAM9, ADAMTS18, ADGRV1, ADIPOR1, AHI1, AHR, AIPL1, ALMS1, ARL13B, ARL3, ARL6, ATF6, ATXN7, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C8ORF37, CA4, CABP4, CACNA1F, CACNA2D4, CC2D2A, CDH23, CDH3, CDHR1, CEP164, CEP290, CEP41, CERKL, CHM, CIB2, CISD2, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, CPLANE1, CRB1, CRX, CTNNA1, CTSD, CYP4V2, DHDDS, DNAJC5, DRAM2, DTHD1, DYNC2H1, EFEMP1, ELOVL4, EMC1, EYS, FAM161A, FLVCR1, FSCN2, FZD4, GDF6, GLIS2, GNAT1, GNAT2, GNB3, GNPTG, GPR179, GRK1, GRM6, GRN, GUCA1A, GUCA1B, GUCY2D, HARS1, HGSNAT, HK1, HMCN1, HMX1, IDH3B, IFT140, IFT172, IFT80, IFT81, IMPDH1, IMPG1, IMPG2, INPP5E, INVS, IQCB1, ITM2B, JAG1, KCNJ13, KCNV2, KIF11, KIF7, KLHL7, LAMA1, LCA5, LRAT, LRIT3, LRP5, LZTFL1, MAK, MERTK, MFN2, MFRP, MFSD8, MKKS, MKS1, MTTP, MVK, MYO7A, NBAS, NDP, NEK8, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NR2F1, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPN1SW, OTX2, PANK2, PAX2, PAX6, PCARE, PCDH15, PCYT1A, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX1, PEX10, PEX12, PEX13, PEX16, PEX2, PEX26, PEX5, PEX6, PEX7, PGK1, PHYH, PITPNM3, PLA2G5, PNPLA6, POC1B, POMGNT1, PPT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRPS1, RAB28, RASSF8, RAX2, RB1, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RS1, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC41A1, SLC9A6, SNRNP200, SPATA7, TCTN1, TCTN2, TEAD1, TIMM8A, TIMP3, TMEM126A, TMEM138, TMEM216, TMEM237, TMEM67, TOPORS, TPP1, TREX1, TRIM32, TRPM1, TSFM, TSPAN12, TTC21B, TTC8, TTLL5, TTPA, TUB, TUBGCP6, TULP1, TWNK, TYR, TYRP1, UNC119, USH1C, USH1G, USH2A, VCAN, VPS13B, WDPCP, WDR19, WFS1, WHRN, XPNPEP3, ZNF423, ZNF513, ZNF592, ZNF674
Glaucoma
49 genes
ACVR1, ADAMTS10, ASB10, BCOR, BEST1, CA4, CANT1, COL11A1, COL18A1, COL4A1, COL8A2, CRPPA, CYP1B1, DDX58, ELP4, FBN1, FOXC1, FOXE3, GJA1, HLA-DRB1, LMX1B, LOXL1, LTBP2, MFRP, MTHFR, MYOC, NTF4, OCRL, OPA1, OPTC, OPTN, PAX6, PEX5, PITX2, PITX3, POMT1, PRSS56, RPGRIP1, RPS19, RRM2B, SBF2, SH3PXD2B, SIX6, SLC4A4, TBK1, TEK, TTR, VSX2, WDR36
Glaucoma congénito
20 genes
ASB10, COL18A1, COL4A1, CRYAA, CRYBA4, CYP1B1, FOXC1, LMX1B, LTBP2, MFRP, MYOC, OPA1, OPA3, OPTN, PAX6, PITX2, SH3PXD2B, TEK, TMEM126A, WDR36
Malformacion ocular
71 genes
ABCB6, ACTB, ACTG1, ADAMTS10, ADAMTS17, ALX1, B3GLCT, BCOR, BLOC1S6, BMP4, CDON, CHMP4B, COL4A1, COL4A2, CYP1B1, CYP27A1, EPHA2, FREM1, FREM2, FRMD7, FZD4, GDF3, GDF6, GJA3, GJA8, GRIP1, HCCS, HESX1, HMGB3, HPS1, HPS3, HPS4, JAG1, LMX1B, LTBP2, MAB21L2, MAF, MIP, MITF, MYO5A, NAA10, NDP, NOTCH2, OCRL, OTX2, P3H2, PIK3R1, PITX2, PITX3, PORCN, PRSS56, RAB27A, RARB, RAX, RBP4, SALL4, SHH, SIL1, SLC16A12, SLC33A1, SLC45A2, SNX3, SOX2, SOX3, STRA6, TENM3, TFAP2A, TGFB2, VAX1, VSX2, WFS1
Miopía
40 genes
ADAMTS2, AGK, ALDH18A1, ARR3, BFSP2, C8ORF37, CLDN19, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, CPSF1, FBN1, GJA1, GRM6, IFIH1, KIF11, LRP2, LRPAP1, LTBP2, MYOC, NIPBL, OPN1LW, P3H2, P4HA2, PLOD1, POLR3A, POLR3B, POMT1, PRIMPOL, RHOA, SCO2, SKI, SLC39A5, SLITRK6, TFAP2A, VCAN, VPS13B, ZNF644
Ptosis congénita
9 genes
ACTB, CHN1, COL25A1, COLQ, FOXL2, KIF21A, PAX6, RYR1, ZFHX4
Síndrome de Alport
6 genes
CD151, COL4A3, COL4A4, COL4A5, COL4A6, MYH9
Síndrome de Senior-Loken
10 genes
CEP164, CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19
Síndrome de Stickler
6 genes
COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3
Síndrome de Usher
17 genes
ABHD12, ADGRV1, CDH23, CEP250, CIB2, CLRN1, HARS1, MYO7A, PCARE, PCDH15, PDZD7, PEX6, RPGR, USH1C, USH1G, USH2A, WHRN