Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Brittle cornea syndrome 1 |
ZNF469 |
disease |
C0268344 |
GeneticVariation |
0.8 |
orphanet , disgenet |
Brittle cornea syndrome 1 |
ZNF469 |
disease |
C0268344 |
GermlineCausalMutation |
0.8 |
orphanet , disgenet |
Brittle cornea syndrome 1 |
ZNF469 |
disease |
C0268344 |
CausalMutation |
0.8 |
orphanet , disgenet |
Brittle cornea syndrome 1 |
ZNF469 |
disease |
C0268344 |
Biomarker |
0.8 |
orphanet , disgenet |
Brittle cornea syndrome 1 |
PRDM5 |
disease |
C0268344 |
GeneticVariation |
0.57 |
orphanet , disgenet |
Brittle cornea syndrome 1 |
PRDM5 |
disease |
C0268344 |
Biomarker |
0.57 |
orphanet , disgenet |
Brittle cornea syndrome 1 |
PRDM5 |
disease |
C0268344 |
GermlineCausalMutation |
0.57 |
orphanet , disgenet |
Brittle cornea syndrome 1 |
PRDM5 |
disease |
C0268344 |
PosttranslationalModification |
0.57 |
orphanet , disgenet |
Brittle cornea syndrome 1 |
FN1 |
disease |
C0268344 |
GeneticVariation |
0.01 |
disgenet |
Brittle cornea syndrome 1 |
BCS1L |
disease |
C0268344 |
GeneticVariation |
0.01 |
disgenet |
Brittle cornea syndrome 1 |
SEC24D |
disease |
C0268344 |
GeneticVariation |
0.01 |
disgenet |
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