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Bloom syndrome
Bloom syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
BLOOM SYNDROME
125
210900
C0005859
MESH:D001816
MONDO:0008876
BLM
Causal
20301572
21440839
CTD
,
ClinGen
,
ClinVar
,
Disgenet
,
GenCC
,
HPO
,
Orphanet
Homologous recombination
Fanconi anemia pathway
Processive synthesis on the C-strand of the telomere
SUMOylation of DNA damage response and repair proteins
HDR through Single Strand Annealing (SSA)
HDR through Homologous Recombination (HRR)
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Resolution of D-loop Structures through Holliday Junction Intermediates
Homologous DNA Pairing and Strand Exchange
Processing of DNA double-strand break ends
Presynaptic phase of homologous DNA pairing and strand exchange
Regulation of TP53 Activity through Phosphorylation
G2/M DNA damage checkpoint
+10 more
UNG
Unknown
2106500
CTD
,
Disgenet
Base excision repair
Primary immunodeficiency
Recognition and association of DNA glycosylase with site containing an affected pyrimidine
Cleavage of the damaged pyrimidine
Displacement of DNA glycosylase by APEX1
+2 more
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
1
Orphanet
1
Disgenet
2
CTD
2
HPO
1
GWAS catalog
0
GenCC
1
ClinGen
1
Related Diseases
Diseases that share the most curated genes with Bloom syndrome.
5
View disease cluster →
Hyper-immunoglobulin m syndrome
1 shared gene
UNG
Related via 1 shared gene including UNG.
Dysfibrinogenemia
1 shared gene
UNG
Related via 1 shared gene including UNG.
Hyper-igm immunodeficiency syndrome
1 shared gene
UNG
Related via 1 shared gene including UNG.
Osteosarcoma
1 shared gene
BLM
Related via 1 shared gene including BLM.
Colorectal neoplasms
1 shared gene
UNG
Related via 1 shared gene including UNG.
1
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