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Nijmegen breakage syndrome
Nijmegen breakage syndrome
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Nijmegen breakage syndrome
MONDO_0009623
MONDO_0013118
NBN
Unknown
11325820
12447395
12833396
15338273
16415040
20301355
28297620
3802554
9590180
ClinGen
,
Open Targets
Homologous recombination
Cellular senescence
DNA Damage/Telomere Stress Induced Senescence
HDR through Single Strand Annealing (SSA)
HDR through MMEJ (alt-NHEJ)
HDR through Homologous Recombination (HRR)
Sensing of DNA Double Strand Breaks
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
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
+13 more
RAD50
Unknown
19409520
1887849
33378670
32212377
Open Targets
Homologous recombination
Non-homologous end-joining
Cellular senescence
DNA Damage/Telomere Stress Induced Senescence
HDR through Single Strand Annealing (SSA)
HDR through MMEJ (alt-NHEJ)
HDR through Homologous Recombination (HRR)
Sensing of DNA Double Strand Breaks
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
Resolution of D-loop Structures through Holliday Junction Intermediates
Nonhomologous End-Joining (NHEJ)
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
+14 more
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
Open Targets
2
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