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mismatch repair cancer syndrome 1
mismatch repair cancer syndrome 1
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Mismatch repair cancer syndrome 1
MLH1
Causal
11427529
17440981
7661930
ClinGen
Platinum drug resistance
Mismatch repair
Fanconi anemia pathway
Pathways in cancer
Colorectal cancer
Endometrial cancer
Gastric cancer
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Defective Mismatch Repair Associated With MLH1
Defective Mismatch Repair Associated With PMS2
TP53 Regulates Transcription of DNA Repair Genes
+8 more
MSH2
Causal
—
ClinGen
Platinum drug resistance
Mismatch repair
Pathways in cancer
Colorectal cancer
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
Defective Mismatch Repair Associated With MSH3
Defective Mismatch Repair Associated With MSH2
Defective Mismatch Repair Associated With MSH6
TP53 Regulates Transcription of DNA Repair Genes
+7 more
MSH6
Causal
—
ClinGen
Platinum drug resistance
Mismatch repair
Pathways in cancer
Colorectal cancer
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Defective Mismatch Repair Associated With MSH2
Defective Mismatch Repair Associated With MSH6
+4 more
PMS2
Causal
—
ClinGen
Mismatch repair
Fanconi anemia pathway
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Defective Mismatch Repair Associated With MLH1
Defective Mismatch Repair Associated With PMS2
TP53 Regulates Transcription of DNA Repair Genes
+3 more
All
4
Causal
4
Unknown
0
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
4
Related Diseases
Diseases that share the most curated genes with mismatch repair cancer syndrome 1.
5
View disease cluster →
Muir-torre syndrome
4 shared genes
MSH2, MSH6, PMS2, MLH1
Related via 4 shared genes including MSH2, MSH6, PMS2.
Turcot syndrome
2 shared genes
PMS2, MLH1
Related via 2 shared genes including PMS2, MLH1.
Constitutional mismatch repair deficiency
4 shared genes
MSH2, MSH6, PMS2, MLH1
Related via 4 shared genes including MSH2, MSH6, PMS2.
Rhabdomyosarcoma
4 shared genes
MSH2, MSH6, PMS2, MLH1
Related via 4 shared genes including MSH2, MSH6, PMS2.
Intellectual developmental disorder dysmorphic behavioral
1 shared gene
MSH6
Related via 1 shared gene including MSH6.
1
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