Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Congenital Amauroses, Leber |
CRB1 |
disease |
C0339527 |
GermlineCausalMutation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
CRX |
disease |
C0339527 |
GermlineCausalMutation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
CRX |
disease |
C0339527 |
CausalMutation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
CRX |
disease |
C0339527 |
Biomarker |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
NMNAT1 |
disease |
C0339527 |
Biomarker |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
CRX |
disease |
C0339527 |
GeneticVariation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
NMNAT1 |
disease |
C0339527 |
GeneticVariation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
NMNAT1 |
disease |
C0339527 |
CausalMutation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
CRB1 |
disease |
C0339527 |
CausalMutation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RPGRIP1 |
disease |
C0339527 |
GeneticVariation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
CRB1 |
disease |
C0339527 |
GeneticVariation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
CRB1 |
disease |
C0339527 |
Biomarker |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
NMNAT1 |
disease |
C0339527 |
GermlineCausalMutation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RPE65 |
disease |
C0339527 |
CausalMutation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RPE65 |
disease |
C0339527 |
Biomarker |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RPE65 |
disease |
C0339527 |
GermlineCausalMutation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RPGRIP1 |
disease |
C0339527 |
GermlineCausalMutation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RPGRIP1 |
disease |
C0339527 |
Biomarker |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RPE65 |
disease |
C0339527 |
GeneticVariation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RPGRIP1 |
disease |
C0339527 |
CausalMutation |
0.8 |
orphanet , disgenet |
Congenital Amauroses, Leber |
CEP290 |
disease |
C0339527 |
CausalMutation |
0.7 |
orphanet , disgenet |
Congenital Amauroses, Leber |
AIPL1 |
disease |
C0339527 |
GeneticVariation |
0.7 |
orphanet , disgenet |
Congenital Amauroses, Leber |
CEP290 |
disease |
C0339527 |
GeneticVariation |
0.7 |
orphanet , disgenet |
Congenital Amauroses, Leber |
CEP290 |
disease |
C0339527 |
AlteredExpression |
0.7 |
orphanet , disgenet |
Congenital Amauroses, Leber |
AIPL1 |
disease |
C0339527 |
Biomarker |
0.7 |
orphanet , disgenet |
Congenital Amauroses, Leber |
AIPL1 |
disease |
C0339527 |
GermlineCausalMutation |
0.7 |
orphanet , disgenet |
Congenital Amauroses, Leber |
CEP290 |
disease |
C0339527 |
GermlineCausalMutation |
0.7 |
orphanet , disgenet |
Congenital Amauroses, Leber |
CEP290 |
disease |
C0339527 |
Biomarker |
0.7 |
orphanet , disgenet |
Congenital Amauroses, Leber |
AIPL1 |
disease |
C0339527 |
CausalMutation |
0.7 |
orphanet , disgenet |
Congenital Amauroses, Leber |
IQCB1 |
disease |
C0339527 |
Biomarker |
0.68 |
orphanet , disgenet |
Congenital Amauroses, Leber |
LCA5 |
disease |
C0339527 |
GermlineCausalMutation |
0.68 |
orphanet , disgenet |
Congenital Amauroses, Leber |
LCA5 |
disease |
C0339527 |
Biomarker |
0.68 |
orphanet , disgenet |
Congenital Amauroses, Leber |
IQCB1 |
disease |
C0339527 |
CausalMutation |
0.68 |
orphanet , disgenet |
Congenital Amauroses, Leber |
IQCB1 |
disease |
C0339527 |
GeneticVariation |
0.68 |
orphanet , disgenet |
Congenital Amauroses, Leber |
IQCB1 |
disease |
C0339527 |
GermlineCausalMutation |
0.68 |
orphanet , disgenet |
Congenital Amauroses, Leber |
LCA5 |
disease |
C0339527 |
CausalMutation |
0.68 |
orphanet , disgenet |
Congenital Amauroses, Leber |
LCA5 |
disease |
C0339527 |
GeneticVariation |
0.68 |
orphanet , disgenet |
Congenital Amauroses, Leber |
SPATA7 |
disease |
C0339527 |
GermlineCausalMutation |
0.67 |
orphanet , disgenet |
Congenital Amauroses, Leber |
SPATA7 |
disease |
C0339527 |
Biomarker |
0.67 |
orphanet , disgenet |
Congenital Amauroses, Leber |
SPATA7 |
disease |
C0339527 |
GeneticVariation |
0.67 |
orphanet , disgenet |
Congenital Amauroses, Leber |
TULP1 |
disease |
C0339527 |
Biomarker |
0.66 |
orphanet , disgenet |
Congenital Amauroses, Leber |
TULP1 |
disease |
C0339527 |
GeneticVariation |
0.66 |
orphanet , disgenet |
Congenital Amauroses, Leber |
TULP1 |
disease |
C0339527 |
GermlineCausalMutation |
0.66 |
orphanet , disgenet |
Congenital Amauroses, Leber |
LRAT |
disease |
C0339527 |
GeneticVariation |
0.65 |
orphanet , disgenet |
Congenital Amauroses, Leber |
LRAT |
disease |
C0339527 |
Biomarker |
0.65 |
orphanet , disgenet |
Congenital Amauroses, Leber |
KCNJ13 |
disease |
C0339527 |
GermlineCausalMutation |
0.65 |
orphanet , disgenet |
Congenital Amauroses, Leber |
KCNJ13 |
disease |
C0339527 |
GeneticVariation |
0.65 |
orphanet , disgenet |
Congenital Amauroses, Leber |
KCNJ13 |
disease |
C0339527 |
CausalMutation |
0.65 |
orphanet , disgenet |
Congenital Amauroses, Leber |
KCNJ13 |
disease |
C0339527 |
Biomarker |
0.65 |
orphanet , disgenet |
Congenital Amauroses, Leber |
LRAT |
disease |
C0339527 |
GermlineCausalMutation |
0.65 |
orphanet , disgenet |
Congenital Amauroses, Leber |
IMPDH1 |
disease |
C0339527 |
Biomarker |
0.63 |
orphanet , disgenet |
Congenital Amauroses, Leber |
IMPDH1 |
disease |
C0339527 |
GeneticVariation |
0.63 |
orphanet , disgenet |
Congenital Amauroses, Leber |
IMPDH1 |
disease |
C0339527 |
GermlineCausalMutation |
0.63 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RD3 |
disease |
C0339527 |
CausalMutation |
0.6 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RD3 |
disease |
C0339527 |
GermlineCausalMutation |
0.6 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RD3 |
disease |
C0339527 |
Biomarker |
0.6 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RDH12 |
disease |
C0339527 |
CausalMutation |
0.5 |
orphanet , disgenet |
Congenital Amauroses, Leber |
GUCY2D |
disease |
C0339527 |
GeneticVariation |
0.5 |
orphanet , disgenet |
Congenital Amauroses, Leber |
GUCY2D |
disease |
C0339527 |
GermlineCausalMutation |
0.5 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RDH12 |
disease |
C0339527 |
GeneticVariation |
0.5 |
orphanet , disgenet |
Congenital Amauroses, Leber |
GUCY2D |
disease |
C0339527 |
Biomarker |
0.5 |
orphanet , disgenet |
Congenital Amauroses, Leber |
GUCY2D |
disease |
C0339527 |
CausalMutation |
0.5 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RDH12 |
disease |
C0339527 |
GermlineCausalMutation |
0.5 |
orphanet , disgenet |
Congenital Amauroses, Leber |
RDH12 |
disease |
C0339527 |
Biomarker |
0.5 |
orphanet , disgenet |
Congenital Amauroses, Leber |
GDF6 |
disease |
C0339527 |
Biomarker |
0.31 |
orphanet , disgenet |
Congenital Amauroses, Leber |
USP45 |
disease |
C0339527 |
GermlineCausalMutation |
0.31 |
orphanet , disgenet |
Congenital Amauroses, Leber |
GDF6 |
disease |
C0339527 |
GermlineCausalMutation |
0.31 |
orphanet , disgenet |
Congenital Amauroses, Leber |
USP45 |
disease |
C0339527 |
GeneticVariation |
0.31 |
orphanet , disgenet |
Congenital Amauroses, Leber |
IFT140 |
disease |
C0339527 |
GermlineCausalMutation |
0.3 |
orphanet , disgenet |
Congenital Amauroses, Leber |
MERTK |
disease |
C0339527 |
Biomarker |
0.3 |
disgenet |
Congenital Amauroses, Leber |
PCYT1A |
disease |
C0339527 |
GermlineCausalMutation |
0.3 |
orphanet , disgenet |
Congenital Amauroses, Leber |
MPP5 |
disease |
C0339527 |
Biomarker |
0.21 |
disgenet |
Congenital Amauroses, Leber |
ABCA4 |
disease |
C0339527 |
CausalMutation |
0.12 |
disgenet |
Congenital Amauroses, Leber |
ABCA4 |
disease |
C0339527 |
GeneticVariation |
0.12 |
disgenet |
Congenital Amauroses, Leber |
AHI1 |
disease |
C0339527 |
CausalMutation |
0.1 |
disgenet |
Congenital Amauroses, Leber |
RP2 |
disease |
C0339527 |
CausalMutation |
0.1 |
disgenet |
Congenital Amauroses, Leber |
NR2E3 |
disease |
C0339527 |
CausalMutation |
0.1 |
disgenet |
Congenital Amauroses, Leber |
RP2 |
disease |
C0339527 |
GeneticVariation |
0.1 |
disgenet |
Congenital Amauroses, Leber |
CNGB3 |
disease |
C0339527 |
CausalMutation |
0.1 |
disgenet |
Congenital Amauroses, Leber |
CLUAP1 |
disease |
C0339527 |
CausalMutation |
0.1 |
disgenet |
Congenital Amauroses, Leber |
GIGYF2 |
disease |
C0339527 |
CausalMutation |
0.1 |
disgenet |
Congenital Amauroses, Leber |
USH2A |
disease |
C0339527 |
GeneticVariation |
0.1 |
disgenet |
Congenital Amauroses, Leber |
CDHR1 |
disease |
C0339527 |
CausalMutation |
0.1 |
disgenet |
Congenital Amauroses, Leber |
GRM6 |
disease |
C0339527 |
CausalMutation |
0.1 |
disgenet |
Congenital Amauroses, Leber |
ZFYVE26 |
disease |
C0339527 |
CausalMutation |
0.1 |
disgenet |
Congenital Amauroses, Leber |
PDE6A |
disease |
C0339527 |
CausalMutation |
0.1 |
disgenet |
Congenital Amauroses, Leber |
RGS9 |
disease |
C0339527 |
CausalMutation |
0.1 |
disgenet |
Congenital Amauroses, Leber |
SLC38A8 |
disease |
C0339527 |
GeneticVariation |
0.1 |
disgenet |
Congenital Amauroses, Leber |
CRB2 |
disease |
C0339527 |
AlteredExpression |
0.04 |
disgenet |
Congenital Amauroses, Leber |
LCA10 |
disease |
C0339527 |
Biomarker |
0.04 |
disgenet |
Congenital Amauroses, Leber |
LCA10 |
disease |
C0339527 |
GeneticVariation |
0.04 |
disgenet |
Congenital Amauroses, Leber |
CRB2 |
disease |
C0339527 |
Biomarker |
0.04 |
disgenet |
Congenital Amauroses, Leber |
CRB2 |
disease |
C0339527 |
GeneticVariation |
0.04 |
disgenet |
Congenital Amauroses, Leber |
PTPRC |
disease |
C0339527 |
GeneticVariation |
0.03 |
disgenet |
Congenital Amauroses, Leber |
OTX2 |
disease |
C0339527 |
GeneticVariation |
0.03 |
disgenet |
Congenital Amauroses, Leber |
OTX2 |
disease |
C0339527 |
AlteredExpression |
0.03 |
disgenet |
Congenital Amauroses, Leber |
CLTA |
disease |
C0339527 |
GeneticVariation |
0.03 |
disgenet |
Congenital Amauroses, Leber |
CNGA3 |
disease |
C0339527 |
GeneticVariation |
0.02 |
disgenet |
Congenital Amauroses, Leber |
CCT2 |
disease |
C0339527 |
GeneticVariation |
0.02 |
disgenet |
Congenital Amauroses, Leber |
CCT2 |
disease |
C0339527 |
Biomarker |
0.02 |
disgenet |
Congenital Amauroses, Leber |
MYO7A |
disease |
C0339527 |
GeneticVariation |
0.02 |
disgenet |
Congenital Amauroses, Leber |
GUCA1A |
disease |
C0339527 |
GeneticVariation |
0.02 |
disgenet |
Congenital Amauroses, Leber |
GUCA1A |
disease |
C0339527 |
Biomarker |
0.02 |
disgenet |
Congenital Amauroses, Leber |
SLC7A14 |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
BCL2 |
disease |
C0339527 |
Biomarker |
0.01 |
disgenet |
Congenital Amauroses, Leber |
CNTLN |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
PSMD13 |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
RPGR |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
PRPH2 |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
ADH7 |
disease |
C0339527 |
Biomarker |
0.01 |
disgenet |
Congenital Amauroses, Leber |
NINL |
disease |
C0339527 |
Biomarker |
0.01 |
disgenet |
Congenital Amauroses, Leber |
SERPINF1 |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
IMPG1 |
disease |
C0339527 |
Biomarker |
0.01 |
disgenet |
Congenital Amauroses, Leber |
PDE6B |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
ENO2 |
disease |
C0339527 |
AlteredExpression |
0.01 |
disgenet |
Congenital Amauroses, Leber |
EGF |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
ND4 |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
NUB1 |
disease |
C0339527 |
Biomarker |
0.01 |
disgenet |
Congenital Amauroses, Leber |
MEF2C |
disease |
C0339527 |
AlteredExpression |
0.01 |
disgenet |
Congenital Amauroses, Leber |
TUB |
disease |
C0339527 |
Biomarker |
0.01 |
disgenet |
Congenital Amauroses, Leber |
ELOVL4 |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
PRPF8 |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
GUCA1B |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
CILK1 |
disease |
C0339527 |
Biomarker |
0.01 |
disgenet |
Congenital Amauroses, Leber |
TAP2 |
disease |
C0339527 |
AlteredExpression |
0.01 |
disgenet |
Congenital Amauroses, Leber |
GUCY2EP |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
MIR204 |
disease |
C0339527 |
Biomarker |
0.01 |
disgenet |
Congenital Amauroses, Leber |
FST |
disease |
C0339527 |
Biomarker |
0.01 |
disgenet |
Congenital Amauroses, Leber |
MEF2A |
disease |
C0339527 |
AlteredExpression |
0.01 |
disgenet |
Congenital Amauroses, Leber |
HSD17B6 |
disease |
C0339527 |
Biomarker |
0.01 |
disgenet |
Congenital Amauroses, Leber |
SP4 |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
PNPLA6 |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
IMPG2 |
disease |
C0339527 |
AlteredExpression |
0.01 |
disgenet |
Congenital Amauroses, Leber |
PRPH |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
LPCAT1 |
disease |
C0339527 |
Biomarker |
0.01 |
disgenet |
Congenital Amauroses, Leber |
GUCY2F |
disease |
C0339527 |
Biomarker |
0.01 |
disgenet |
Congenital Amauroses, Leber |
NRL |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
RPGRIP1L |
disease |
C0339527 |
Biomarker |
0.01 |
disgenet |
Congenital Amauroses, Leber |
CABP4 |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
SLC19A2 |
disease |
C0339527 |
GeneticVariation |
0.01 |
disgenet |
Congenital Amauroses, Leber |
MT-ND3 |
NA |
C0339527 |
NA |
NA |
orphanet |
Congenital Amauroses, Leber |
MT-ND4 |
NA |
C0339527 |
NA |
NA |
orphanet |
Congenital Amauroses, Leber |
MT-ND6 |
NA |
C0339527 |
NA |
NA |
orphanet |
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