Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Hereditary Breast and Ovarian Cancer Syndrome |
BRCA2 |
disease |
C0677776 |
GeneticVariation |
0.8 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BRCA2 |
disease |
C0677776 |
PosttranslationalModification |
0.8 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BRCA2 |
disease |
C0677776 |
Biomarker |
0.8 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BRCA2 |
disease |
C0677776 |
GermlineCausalMutation |
0.8 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BRCA1 |
disease |
C0677776 |
PosttranslationalModification |
0.8 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BRCA2 |
disease |
C0677776 |
CausalMutation |
0.8 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BRCA1 |
disease |
C0677776 |
GeneticVariation |
0.8 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BRCA1 |
disease |
C0677776 |
Biomarker |
0.8 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BRCA1 |
disease |
C0677776 |
CausalMutation |
0.8 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BRCA1 |
disease |
C0677776 |
GermlineCausalMutation |
0.8 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BRCA1 |
disease |
C0677776 |
AlteredExpression |
0.8 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RAD51C |
disease |
C0677776 |
GermlineCausalMutation |
0.5 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RAD51C |
disease |
C0677776 |
Biomarker |
0.5 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
TP53 |
disease |
C0677776 |
CausalMutation |
0.5 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
TP53 |
disease |
C0677776 |
Biomarker |
0.5 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RAD51C |
disease |
C0677776 |
CausalMutation |
0.5 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
TP53 |
disease |
C0677776 |
GeneticVariation |
0.5 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RAD51C |
disease |
C0677776 |
GeneticVariation |
0.5 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
PALB2 |
disease |
C0677776 |
CausalMutation |
0.46 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
CHEK2 |
disease |
C0677776 |
GeneticVariation |
0.46 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
PALB2 |
disease |
C0677776 |
GeneticVariation |
0.46 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
CHEK2 |
disease |
C0677776 |
CausalMutation |
0.46 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RAD51D |
disease |
C0677776 |
Biomarker |
0.42 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RAD51D |
disease |
C0677776 |
CausalMutation |
0.42 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RAD51D |
disease |
C0677776 |
GeneticVariation |
0.42 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RAD51D |
disease |
C0677776 |
GermlineCausalMutation |
0.42 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BRIP1 |
disease |
C0677776 |
GeneticVariation |
0.41 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BRIP1 |
disease |
C0677776 |
CausalMutation |
0.41 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BARD1 |
disease |
C0677776 |
CausalMutation |
0.4 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
NBN |
disease |
C0677776 |
GeneticVariation |
0.4 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BARD1 |
disease |
C0677776 |
GeneticVariation |
0.4 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
MRE11 |
disease |
C0677776 |
GeneticVariation |
0.4 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
PTEN |
disease |
C0677776 |
GeneticVariation |
0.33 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
PTEN |
disease |
C0677776 |
Biomarker |
0.33 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RAD50 |
disease |
C0677776 |
GeneticVariation |
0.3 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RAD51 |
disease |
C0677776 |
GeneticVariation |
0.3 |
orphanet , disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
ATM |
disease |
C0677776 |
GeneticVariation |
0.16 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
ATM |
disease |
C0677776 |
PosttranslationalModification |
0.16 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
MLH1 |
disease |
C0677776 |
GeneticVariation |
0.15 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RPL21P4 |
disease |
C0677776 |
GeneticVariation |
0.1 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
ABRAXAS1 |
disease |
C0677776 |
GeneticVariation |
0.1 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RAD51B |
disease |
C0677776 |
GeneticVariation |
0.1 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
C11orf65 |
disease |
C0677776 |
GeneticVariation |
0.1 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
MSH6 |
disease |
C0677776 |
GeneticVariation |
0.06 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
MSH6 |
disease |
C0677776 |
Biomarker |
0.06 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
MSH2 |
disease |
C0677776 |
Biomarker |
0.05 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
MSH2 |
disease |
C0677776 |
GeneticVariation |
0.05 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
PMS2 |
disease |
C0677776 |
Biomarker |
0.04 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
PMS2 |
disease |
C0677776 |
GeneticVariation |
0.04 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
MRC1 |
disease |
C0677776 |
Biomarker |
0.02 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
KRT88P |
disease |
C0677776 |
GeneticVariation |
0.02 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
KRT88P |
disease |
C0677776 |
Biomarker |
0.02 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BRCA3 |
disease |
C0677776 |
GeneticVariation |
0.02 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
KRAS |
disease |
C0677776 |
GeneticVariation |
0.02 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
MRC1 |
disease |
C0677776 |
GeneticVariation |
0.02 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
PRSS1 |
disease |
C0677776 |
GeneticVariation |
0.02 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
AR |
disease |
C0677776 |
GeneticVariation |
0.02 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
EPHA3 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
KIT |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
HSD17B7 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
VHL |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
PARP1 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
ERBB2 |
disease |
C0677776 |
AlteredExpression |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RNU1-4 |
disease |
C0677776 |
Biomarker |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
CDK2 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
NOTCH3 |
disease |
C0677776 |
Biomarker |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
S100A2 |
disease |
C0677776 |
Biomarker |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
MSH3 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
WT1 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
APRT |
disease |
C0677776 |
Biomarker |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
MIR146A |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RAD52 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
HSD11B2 |
disease |
C0677776 |
Biomarker |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
CDKN2A |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
SEM1 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
HSD17B1 |
disease |
C0677776 |
Biomarker |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
LOC111589215 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
HSD17B13 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
NF2 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RASSF7 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
IGFBP4 |
disease |
C0677776 |
Biomarker |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
ALYREF |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
CRYGD |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
BCCIP |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
PMS1 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
ERCC4 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
SLC22A12 |
disease |
C0677776 |
Biomarker |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
FAP |
disease |
C0677776 |
Biomarker |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
HOXB13 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
DHRS11 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
EMSY |
disease |
C0677776 |
AlteredExpression |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
CDH1 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
RB1 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
FANCA |
disease |
C0677776 |
Biomarker |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
HRAS |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
FANCC |
disease |
C0677776 |
Biomarker |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
APC |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
DHX8 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
MFAP1 |
disease |
C0677776 |
Biomarker |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
NRAS |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
COL11A2 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
Hereditary Breast and Ovarian Cancer Syndrome |
OLA1 |
disease |
C0677776 |
GeneticVariation |
0.01 |
disgenet |
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