Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Cytochrome-c Oxidase Deficiencies |
COX10 |
disease |
C0268237 |
GeneticVariation |
0.94 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
SCO1 |
disease |
C0268237 |
Biomarker |
0.94 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX10 |
disease |
C0268237 |
CausalMutation |
0.94 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX10 |
disease |
C0268237 |
AlteredExpression |
0.94 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
SCO1 |
disease |
C0268237 |
GeneticVariation |
0.94 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX10 |
disease |
C0268237 |
Biomarker |
0.94 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
SCO1 |
disease |
C0268237 |
CausalMutation |
0.94 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX10 |
disease |
C0268237 |
GermlineCausalMutation |
0.94 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX8A |
disease |
C0268237 |
GeneticVariation |
0.75 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX8A |
disease |
C0268237 |
GermlineCausalMutation |
0.75 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX8A |
disease |
C0268237 |
Biomarker |
0.75 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX8A |
disease |
C0268237 |
CausalMutation |
0.75 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COA8 |
disease |
C0268237 |
CausalMutation |
0.72 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COA8 |
disease |
C0268237 |
Biomarker |
0.72 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COA8 |
disease |
C0268237 |
GeneticVariation |
0.72 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX20 |
disease |
C0268237 |
GermlineCausalMutation |
0.71 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX20 |
disease |
C0268237 |
CausalMutation |
0.71 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX20 |
disease |
C0268237 |
Biomarker |
0.71 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX20 |
disease |
C0268237 |
GeneticVariation |
0.71 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX6B1 |
disease |
C0268237 |
Biomarker |
0.7 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX6B1 |
disease |
C0268237 |
GermlineCausalMutation |
0.7 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX6B1 |
disease |
C0268237 |
GeneticVariation |
0.7 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX14 |
disease |
C0268237 |
GermlineCausalMutation |
0.7 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX14 |
disease |
C0268237 |
CausalMutation |
0.7 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX14 |
disease |
C0268237 |
Biomarker |
0.7 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX6B1 |
disease |
C0268237 |
CausalMutation |
0.7 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX2 |
disease |
C0268237 |
CausalMutation |
0.64 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX2 |
disease |
C0268237 |
GeneticVariation |
0.64 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX2 |
disease |
C0268237 |
Biomarker |
0.64 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX2 |
disease |
C0268237 |
GermlineCausalMutation |
0.64 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX1 |
disease |
C0268237 |
Biomarker |
0.62 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX1 |
disease |
C0268237 |
CausalMutation |
0.62 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
PET100 |
disease |
C0268237 |
GeneticVariation |
0.62 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX1 |
disease |
C0268237 |
GeneticVariation |
0.62 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX1 |
disease |
C0268237 |
GermlineCausalMutation |
0.62 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
PET100 |
disease |
C0268237 |
CausalMutation |
0.62 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
PET100 |
disease |
C0268237 |
Biomarker |
0.62 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
FASTKD2 |
disease |
C0268237 |
GeneticVariation |
0.61 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
FASTKD2 |
disease |
C0268237 |
CausalMutation |
0.61 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
FASTKD2 |
disease |
C0268237 |
Biomarker |
0.61 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
SCO2 |
disease |
C0268237 |
AlteredExpression |
0.6 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
TACO1 |
disease |
C0268237 |
Biomarker |
0.6 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
TACO1 |
disease |
C0268237 |
GeneticVariation |
0.6 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
SCO2 |
disease |
C0268237 |
GeneticVariation |
0.6 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
SCO2 |
disease |
C0268237 |
Biomarker |
0.6 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
TACO1 |
disease |
C0268237 |
CausalMutation |
0.6 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
SURF1 |
disease |
C0268237 |
Biomarker |
0.5 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
SURF1 |
disease |
C0268237 |
CausalMutation |
0.5 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
SURF1 |
disease |
C0268237 |
GeneticVariation |
0.5 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COA3 |
disease |
C0268237 |
GermlineCausalMutation |
0.41 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COA3 |
disease |
C0268237 |
GeneticVariation |
0.41 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COA3 |
disease |
C0268237 |
CausalMutation |
0.41 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX3 |
disease |
C0268237 |
CausalMutation |
0.4 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX3 |
disease |
C0268237 |
GermlineCausalMutation |
0.4 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
TRNN |
disease |
C0268237 |
Biomarker |
0.4 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
TRNN |
disease |
C0268237 |
CausalMutation |
0.4 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX5A |
disease |
C0268237 |
GermlineCausalMutation |
0.35 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX5A |
disease |
C0268237 |
Biomarker |
0.35 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX5A |
disease |
C0268237 |
GeneticVariation |
0.35 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
MTCO2P12 |
disease |
C0268237 |
Biomarker |
0.33 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
MTCO2P12 |
disease |
C0268237 |
GeneticVariation |
0.33 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX15 |
disease |
C0268237 |
GeneticVariation |
0.33 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX15 |
disease |
C0268237 |
AlteredExpression |
0.33 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COX15 |
disease |
C0268237 |
Biomarker |
0.33 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COA5 |
disease |
C0268237 |
Biomarker |
0.32 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
PET117 |
disease |
C0268237 |
GermlineCausalMutation |
0.31 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
PET117 |
disease |
C0268237 |
Biomarker |
0.31 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
NDUFA4 |
disease |
C0268237 |
Biomarker |
0.3 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
TRNS1 |
disease |
C0268237 |
Biomarker |
0.3 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
TRNL1 |
disease |
C0268237 |
CausalMutation |
0.1 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
HNRNPU |
disease |
C0268237 |
CausalMutation |
0.1 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
KLC1 |
disease |
C0268237 |
CausalMutation |
0.1 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
CPOX |
disease |
C0268237 |
Biomarker |
0.04 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
CPOX |
disease |
C0268237 |
GeneticVariation |
0.04 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COA6 |
disease |
C0268237 |
Biomarker |
0.03 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COA6 |
disease |
C0268237 |
AlteredExpression |
0.03 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COA6 |
disease |
C0268237 |
GeneticVariation |
0.03 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
GAA |
disease |
C0268237 |
AlteredExpression |
0.02 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
GAA |
disease |
C0268237 |
Biomarker |
0.02 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
GFM2 |
disease |
C0268237 |
Biomarker |
0.02 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
LRPPRC |
disease |
C0268237 |
GeneticVariation |
0.02 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
LRPPRC |
disease |
C0268237 |
Biomarker |
0.02 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX6A2 |
disease |
C0268237 |
GeneticVariation |
0.02 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
COA7 |
disease |
C0268237 |
GeneticVariation |
0.02 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
MRRF |
disease |
C0268237 |
Biomarker |
0.02 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX6A2 |
disease |
C0268237 |
Biomarker |
0.02 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
PLCE1 |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
PTGS2 |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
MRPL44 |
disease |
C0268237 |
AlteredExpression |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
SIRT3 |
disease |
C0268237 |
Biomarker |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX4I1 |
disease |
C0268237 |
Biomarker |
0.01 |
orphanet , disgenet |
Cytochrome-c Oxidase Deficiencies |
GBE1 |
disease |
C0268237 |
Biomarker |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
ETHE1 |
disease |
C0268237 |
Biomarker |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
OTOA |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
SIRT1 |
disease |
C0268237 |
AlteredExpression |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
SOD1 |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX19 |
disease |
C0268237 |
Biomarker |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
PTGS1 |
disease |
C0268237 |
Biomarker |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
FARS2 |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
CHKB |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
STXBP1 |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX4I2 |
disease |
C0268237 |
Biomarker |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
OPA1 |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX7A1 |
disease |
C0268237 |
Biomarker |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
PINK1 |
disease |
C0268237 |
Biomarker |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX18 |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
UCN |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
SLC25A20 |
disease |
C0268237 |
Biomarker |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX17 |
disease |
C0268237 |
Biomarker |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
SIRT4 |
disease |
C0268237 |
Biomarker |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX6A1 |
disease |
C0268237 |
Biomarker |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
COX16 |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
CEP89 |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
CCS |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
EHHADH |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
HADHA |
disease |
C0268237 |
GeneticVariation |
0.01 |
disgenet |
Cytochrome-c Oxidase Deficiencies |
MT-CO1 |
NA |
C0268237 |
NA |
NA |
orphanet |
Cytochrome-c Oxidase Deficiencies |
TRMU |
NA |
C0268237 |
NA |
NA |
orphanet |
Cytochrome-c Oxidase Deficiencies |
MT-CO2 |
NA |
C0268237 |
NA |
NA |
orphanet |
Cytochrome-c Oxidase Deficiencies |
MT-CO3 |
NA |
C0268237 |
NA |
NA |
orphanet |
Cytochrome-c Oxidase Deficiencies |
MT-TE |
NA |
C0268237 |
NA |
NA |
orphanet |
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