KEGG    Network variation - Double-strand break repair
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ENTRYnt06506
NameDouble-strand break repair
CategoryPathway view; Replication and repair
Pathwayhsa03440 Homologous recombination
hsa03450 Non-homologous end-joining
DiseaseH00094 Immunodeficiency associated with DNA repair defects
Display drug-target relation   disease type
N01439    MRN=ATM=H2AXMRN+ATM+MDC1+H2AX=RNF8+HERC2+UBE2V2+..MRN+ATM+RNF8+MDC1+..=L3MBTL2=RNF168+UBE2V2+UBE2..=PIAS4
    ATLD1 MRE11*
    NBSLD RAD50*
    NBS/AA NBN*
    AT/CLL   ATM*
    MRT38         HERC2*
    RIDDLE               RNF168*
 
N01636    RNF168RAD18+UBB=SLF1+SLF2=SMC5-SMC6
    ATELS1     SLF2*
    ATELS2       SMC5*
    SCKL10       NSMCE2*
    LICS       NSMCE3*
 
N01446    MRN=CtIP=BRCA1+BARD1=UIMC1+ABRAXAS+BABA..BLM,WRN+DNA2+MRN=RPA
    SCKL2   CtIP*
    WRN/RecQ         WRN*
    SCKL8         DNA2*
    PFBMFT6           RPA1*
 
N01451    RPA=RAD17+9-1-1=TOPBP1=ATR+ATRIPCHEK1
    SCKL1/FCTS       ATR*
 
N01452    RPA=BRCA1+BARD1=BRCA2+PALB2+DSS1=RAD51=BCDX2,CX3RAD54PCNA+RFC=POLD,POLE,POLK,POL..
    BC/PNCA4/BROVCA1/FANCS   BRCA1*
    BC   BARD1*
    BC/PNCA2/BROVCA2/FANCD     BRCA2*
    BC/PNCA3/FANCN     PALB2*
    BC/FANCR       RAD51*
    BROVCA3/FANCO         RAD51C*
    BROVCA4         RAD51D*
    FANCU/POF17         XRCC2*
    BC/CMM6         XRCC3*
    BC/NHL           RAD54L*
    NHL           RAD54B*
    ATLD2             PCNA*
    MDPL               POLD1*
 
N01447    BLM=TOP3A=RMI
    MGRISCE1/BLM/RecQ BLM*
    MGRISCE2/PEOB5   TOP3A*
 
N01448    SLX=MUS81+EME1=GEN1
    FANCP SLX4*
 
N01449    BLM,RECQL5,RTEL1RAD52
    DKCA4/PFBMFT3 RTEL1*
 
N01450    POLD3=PIF1,MCM
    IMD122 POLD3*
    DFNA70   MCM2*
    IMD54   MCM4*
    MGORS8 MCM5*
 
N01445    TP53BP1+RIF1+PAXIP..Ku=DNAPKCDNAPK+ARTEMISDNAPK+POLXDNAPK=LIG4+XRCC4+XLF
 
N01467    RAG1+RAG2Ku=DNAPKCDNAPK+ARTEMISDNAPK+POLXDNAPK=LIG4+XRCC4+XLF
    SCID/OMENN RAG1*
    SCID/OMENN RAG2*
    SCID     DNAPKC*
    SCID/OMENN       ARTEMIS*
    LIG4             LIG4*
    SSMED             XRCC4*
    SCID             XLF*

Disease nameDisease category
ATLD1H02014Ataxia-telangiectasia-like syndromeImmune system disease
NBSLDH01344Nijmegen breakage syndromeImmune system disease
NBS/AAH01344Nijmegen breakage syndromeImmune system disease
H01132Aplastic anemiaHematologic disease
AT/CLLH00064Ataxia telangiectasiaImmune system disease
H00005Chronic lymphocytic leukemiaCancer
MRT38H00768Autosomal recessive intellectual developmental disorderMental and behavioural disorder
RIDDLEH00962RIDDLE syndromeImmune system disease
ATELS1H02639Atelis syndromeCongenital malformation
ATELS2H02639Atelis syndromeCongenital malformation
SCKL10H00992Seckel syndromeCongenital malformation
LICSH00094Immunodeficiency associated with DNA repair defectsPrimary immunodeficiency
SCKL2H00992Seckel syndromeCongenital malformation
WRN/RecQH01733Werner syndromeEndocrine and metabolic disease
H00296Defects in RecQ helicasesCongenital malformation
SCKL8H00992Seckel syndromeCongenital malformation
PFBMFT6H02569Pulmonary fibrosis and/or bone marrow failure, telomere-relatedHematologic disease
SCKL1/FCTSH00992Seckel syndromeCongenital malformation
H02576Familial cutaneous telangiectasia and cancer syndromeCongenital malformation
BC/PNCA4/BROVCA1/FANCSH00031Breast cancerCancer
H00019Pancreatic cancerCancer
H02531Familial breast-ovarian cancerCancer
H00238Fanconi anemiaHematologic disease
BCH00031Breast cancerCancer
BC/PNCA2/BROVCA2/FANCDH00031Breast cancerCancer
H00019Pancreatic cancerCancer
H02531Familial breast-ovarian cancerCancer
H00238Fanconi anemiaHematologic disease
BC/PNCA3/FANCNH00031Breast cancerCancer
H00019Pancreatic cancerCancer
H00238Fanconi anemiaHematologic disease
BC/FANCRH00031Breast cancerCancer
H00238Fanconi anemiaHematologic disease
BROVCA3/FANCOH02531Familial breast-ovarian cancerCancer
H00238Fanconi anemiaHematologic disease
BROVCA4H02531Familial breast-ovarian cancerCancer
FANCU/POF17H00238Fanconi anemiaHematologic disease
H00627Premature ovarian failureReproductive system disease
BC/CMM6H00031Breast cancerCancer
H00038MelanomaCancer
BC/NHLH00031Breast cancerCancer
H02418Non-Hodgkin lymphomaCancer
NHLH02418Non-Hodgkin lymphomaCancer
ATLD2H02014Ataxia-telangiectasia-like syndromeImmune system disease
MDPLH01623MDPL syndromeCongenital malformation
MGRISCE1/BLM/RecQH02492Microcephaly, growth restriction, and increased sister chromatid exchangeCongenital malformation
H01346Bloom syndromeCongenital malformation
H00296Defects in RecQ helicasesCongenital malformation
MGRISCE2/PEOB5H02492Microcephaly, growth restriction, and increased sister chromatid exchangeCongenital malformation
H01395Autosomal recessive progressive external ophthalmoplegiaNervous system disease
FANCPH00238Fanconi anemiaHematologic disease
DKCA4/PFBMFT3H00507Dyskeratosis congenitaRibosomopathy
H02569Pulmonary fibrosis and/or bone marrow failure, telomere-relatedHematologic disease
IMD122H00091T-B+Severe combined immunodeficiencyPrimary immunodeficiency
DFNA70H00604Deafness, autosomal dominantNervous system disease
IMD54H00094Immunodeficiency associated with DNA repair defectsPrimary immunodeficiency
MGORS8H01889Meier-Gorlin syndromeCongenital malformation
SCID/OMENNH00092T-B-Severe combined immunodeficiencyPrimary immunodeficiency
H01244T+B+Severe combined immunodeficiencies (SCIDs)Primary immunodeficiency
H02554Omenn syndromeImmune system disease
SCIDH00092T-B-Severe combined immunodeficiencyPrimary immunodeficiency
LIG4H02015LIG4 syndromeImmune system disease
SSMEDH02578Short stature, microcephaly, and endocrine dysfunctionCongenital malformation
SCIDH00924Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiationPrimary immunodeficiency