Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Amaurosis congenita of Leber, type 1 |
GUCY2D |
disease |
C2931258 |
AlteredExpression |
1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
GUCY2D |
disease |
C2931258 |
CausalMutation |
1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
GUCY2D |
disease |
C2931258 |
GeneticVariation |
1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
GUCY2D |
disease |
C2931258 |
Biomarker |
1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RPGRIP1 |
disease |
C2931258 |
GeneticVariation |
0.2 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RPGRIP1 |
disease |
C2931258 |
Biomarker |
0.2 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RPGRIP1 |
disease |
C2931258 |
CausalMutation |
0.2 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CRB1 |
disease |
C2931258 |
GeneticVariation |
0.2 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CRB1 |
disease |
C2931258 |
Biomarker |
0.2 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CRB1 |
disease |
C2931258 |
CausalMutation |
0.2 |
disgenet |
Amaurosis congenita of Leber, type 1 |
TULP1 |
disease |
C2931258 |
CausalMutation |
0.14 |
disgenet |
Amaurosis congenita of Leber, type 1 |
TULP1 |
disease |
C2931258 |
GeneticVariation |
0.14 |
disgenet |
Amaurosis congenita of Leber, type 1 |
LCA5 |
disease |
C2931258 |
GeneticVariation |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RDH12 |
disease |
C2931258 |
GeneticVariation |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RPE65 |
disease |
C2931258 |
Biomarker |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CRX |
disease |
C2931258 |
GeneticVariation |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
AIPL1 |
disease |
C2931258 |
Biomarker |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
PTPRC |
disease |
C2931258 |
GeneticVariation |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
AIPL1 |
disease |
C2931258 |
GeneticVariation |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RPE65 |
disease |
C2931258 |
GeneticVariation |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CLTA |
disease |
C2931258 |
Biomarker |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CLTA |
disease |
C2931258 |
GeneticVariation |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CRX |
disease |
C2931258 |
Biomarker |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
LCA5 |
disease |
C2931258 |
Biomarker |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CEP290 |
disease |
C2931258 |
GeneticVariation |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CEP290 |
disease |
C2931258 |
Biomarker |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
NMNAT1 |
disease |
C2931258 |
Biomarker |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
NMNAT1 |
disease |
C2931258 |
GeneticVariation |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
IQCB1 |
disease |
C2931258 |
GeneticVariation |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
PTPRC |
disease |
C2931258 |
Biomarker |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
PROM1 |
disease |
C2931258 |
CausalMutation |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RDH12 |
disease |
C2931258 |
Biomarker |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
IQCB1 |
disease |
C2931258 |
Biomarker |
0.1 |
disgenet |
Amaurosis congenita of Leber, type 1 |
SPATA7 |
disease |
C2931258 |
Biomarker |
0.06 |
disgenet |
Amaurosis congenita of Leber, type 1 |
SPATA7 |
disease |
C2931258 |
GeneticVariation |
0.06 |
disgenet |
Amaurosis congenita of Leber, type 1 |
LRAT |
disease |
C2931258 |
GeneticVariation |
0.05 |
disgenet |
Amaurosis congenita of Leber, type 1 |
LRAT |
disease |
C2931258 |
Biomarker |
0.05 |
disgenet |
Amaurosis congenita of Leber, type 1 |
KCNJ13 |
disease |
C2931258 |
GeneticVariation |
0.04 |
disgenet |
Amaurosis congenita of Leber, type 1 |
MERTK |
disease |
C2931258 |
GeneticVariation |
0.02 |
disgenet |
Amaurosis congenita of Leber, type 1 |
IMPDH1 |
disease |
C2931258 |
GeneticVariation |
0.02 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RD3 |
disease |
C2931258 |
GeneticVariation |
0.02 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RPE |
disease |
C2931258 |
AlteredExpression |
0.02 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RD3 |
disease |
C2931258 |
Biomarker |
0.02 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CRB2 |
disease |
C2931258 |
GeneticVariation |
0.02 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RPE |
disease |
C2931258 |
GeneticVariation |
0.02 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CRB2 |
disease |
C2931258 |
Biomarker |
0.02 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RHO |
disease |
C2931258 |
Biomarker |
0.02 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CCT2 |
disease |
C2931258 |
GeneticVariation |
0.02 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CXCL8 |
disease |
C2931258 |
Biomarker |
0.02 |
disgenet |
Amaurosis congenita of Leber, type 1 |
SORD |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
IL6 |
disease |
C2931258 |
AlteredExpression |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
MS4A1 |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
BEST1 |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
IFT140 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
MYO7A |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
PRPH2 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
OTX2 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
NUB1 |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
HTC2 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
SLC25A22 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
NYX |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
ERBB2 |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
TUB |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
GNAT2 |
disease |
C2931258 |
AlteredExpression |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
DIO3 |
disease |
C2931258 |
AlteredExpression |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
MYCN |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CABP4 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
POC1B |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CTNNA1 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
GUCA1A |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
GRB10 |
disease |
C2931258 |
AlteredExpression |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
SH2D3A |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
NR2E3 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
PCYT1B |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CACNA1F |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
MITF |
disease |
C2931258 |
AlteredExpression |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CNGA3 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RHEB |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CYP4V2 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
BCL6 |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CYP3A4 |
disease |
C2931258 |
AlteredExpression |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
TNF |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RBP3 |
disease |
C2931258 |
AlteredExpression |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
TUBB4B |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
GFAP |
disease |
C2931258 |
AlteredExpression |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
CNTLN |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
AHI1 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
IRF1 |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
NRL |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
FUT4 |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
LOH19CR1 |
disease |
C2931258 |
AlteredExpression |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
RPS19 |
disease |
C2931258 |
AlteredExpression |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
SQSTM1 |
disease |
C2931258 |
AlteredExpression |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
LCA10 |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
KRT20 |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
GUCA2A |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
GRK1 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
TNFRSF8 |
disease |
C2931258 |
Biomarker |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
SLC16A12 |
disease |
C2931258 |
PosttranslationalModification |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
PDE6B |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
MEF2C |
disease |
C2931258 |
AlteredExpression |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
MPP5 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
SLC7A14 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
Amaurosis congenita of Leber, type 1 |
OLFM4 |
disease |
C2931258 |
GeneticVariation |
0.01 |
disgenet |
click here to return to the previous page |