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Muir-torre syndrome
Muir-torre syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Muir-Torre Syndrome
158320
MESH:D055653
MONDO:0008018
MLH1
Causal
4063166
12112654
15571801
16341550
19142183
19419416
21785361
20858721
15923275
14635101
8128251
8145827
7584997
9245993
2022152
9831355
9927033
12124320
12919137
9927034
20533529
10598809
ClinVar
,
CTD
,
GWAS catalog
,
HPO
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
10528862
12694232
22781090
7874129
8723682
10051005
8261515
23170986
12658575
7937795
16451135
15042510
9634524
ClinVar
,
CTD
,
GWAS catalog
,
HPO
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
All
4
Causal
2
Unknown
2
Select all
Clear
ClinVar
2
Orphanet
0
Disgenet
0
CTD
2
HPO
2
GWAS catalog
2
GenCC
0
ClinGen
0
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mismatch repair cancer syndrome 1
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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