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ENTRY	nt06506
Name	Double-strand break repair
Category	Pathway view; Replication and repair
Pathway	hsa03440 Homologous recombination hsa03450 Non-homologous end-joining
Disease	H00094 Immunodeficiency associated with DNA repair defects
Display	drug-target relation   disease type

N01439    MRN = ATM = H2AX → MRN+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    RNF168 → RAD18+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+ATRIP → CHEK1     SCKL1/FCTS             ATR*   N01452    RPA = BRCA1+BARD1 = BRCA2+PALB2+DSS1 = RAD51 = BCDX2,CX3 → RAD54 → PCNA+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,RTEL1 → RAD52     DKCA4/PFBMFT3 RTEL1*   N01450    POLD3 = PIF1,MCM     IMD122 POLD3*     DFNA70     MCM2*     IMD54     MCM4*     MGORS8 MCM5*   N01445    TP53BP1+RIF1+PAXIP.. → Ku = DNAPKC → DNAPK+ARTEMIS → DNAPK+POLX → DNAPK = LIG4+XRCC4+XLF   N01467    RAG1+RAG2 → Ku = DNAPKC → DNAPK+ARTEMIS → DNAPK+POLX → DNAPK = LIG4+XRCC4+XLF     SCID/OMENN RAG1*     SCID/OMENN RAG2*     SCID         DNAPKC*     SCID/OMENN             ARTEMIS*     LIG4                         LIG4*     SSMED                         XRCC4*     SCID                         XLF*

		Disease name	Disease category
ATLD1	H02014	Ataxia-telangiectasia-like syndrome	Immune system disease
NBSLD	H01344	Nijmegen breakage syndrome	Immune system disease
NBS/AA	H01344	Nijmegen breakage syndrome	Immune system disease
	H01132	Aplastic anemia	Hematologic disease
AT/CLL	H00064	Ataxia telangiectasia	Immune system disease
	H00005	Chronic lymphocytic leukemia	Cancer
MRT38	H00768	Autosomal recessive intellectual developmental disorder	Mental and behavioural disorder
RIDDLE	H00962	RIDDLE syndrome	Immune system disease
ATELS1	H02639	Atelis syndrome	Congenital malformation
ATELS2	H02639	Atelis syndrome	Congenital malformation
SCKL10	H00992	Seckel syndrome	Congenital malformation
LICS	H00094	Immunodeficiency associated with DNA repair defects	Primary immunodeficiency
SCKL2	H00992	Seckel syndrome	Congenital malformation
WRN/RecQ	H01733	Werner syndrome	Endocrine and metabolic disease
	H00296	Defects in RecQ helicases	Congenital malformation
SCKL8	H00992	Seckel syndrome	Congenital malformation
PFBMFT6	H02569	Pulmonary fibrosis and/or bone marrow failure, telomere-related	Hematologic disease
SCKL1/FCTS	H00992	Seckel syndrome	Congenital malformation
	H02576	Familial cutaneous telangiectasia and cancer syndrome	Congenital malformation
BC/PNCA4/BROVCA1/FANCS	H00031	Breast cancer	Cancer
	H00019	Pancreatic cancer	Cancer
	H02531	Familial breast-ovarian cancer	Cancer
	H00238	Fanconi anemia	Hematologic disease
BC	H00031	Breast cancer	Cancer
BC/PNCA2/BROVCA2/FANCD	H00031	Breast cancer	Cancer
	H00019	Pancreatic cancer	Cancer
	H02531	Familial breast-ovarian cancer	Cancer
	H00238	Fanconi anemia	Hematologic disease
BC/PNCA3/FANCN	H00031	Breast cancer	Cancer
	H00019	Pancreatic cancer	Cancer
	H00238	Fanconi anemia	Hematologic disease
BC/FANCR	H00031	Breast cancer	Cancer
	H00238	Fanconi anemia	Hematologic disease
BROVCA3/FANCO	H02531	Familial breast-ovarian cancer	Cancer
	H00238	Fanconi anemia	Hematologic disease
BROVCA4	H02531	Familial breast-ovarian cancer	Cancer
FANCU/POF17	H00238	Fanconi anemia	Hematologic disease
	H00627	Premature ovarian failure	Reproductive system disease
BC/CMM6	H00031	Breast cancer	Cancer
	H00038	Melanoma	Cancer
BC/NHL	H00031	Breast cancer	Cancer
	H02418	Non-Hodgkin lymphoma	Cancer
NHL	H02418	Non-Hodgkin lymphoma	Cancer
ATLD2	H02014	Ataxia-telangiectasia-like syndrome	Immune system disease
MDPL	H01623	MDPL syndrome	Congenital malformation
MGRISCE1/BLM/RecQ	H02492	Microcephaly, growth restriction, and increased sister chromatid exchange	Congenital malformation
	H01346	Bloom syndrome	Congenital malformation
	H00296	Defects in RecQ helicases	Congenital malformation
MGRISCE2/PEOB5	H02492	Microcephaly, growth restriction, and increased sister chromatid exchange	Congenital malformation
	H01395	Autosomal recessive progressive external ophthalmoplegia	Nervous system disease
FANCP	H00238	Fanconi anemia	Hematologic disease
DKCA4/PFBMFT3	H00507	Dyskeratosis congenita	Ribosomopathy
	H02569	Pulmonary fibrosis and/or bone marrow failure, telomere-related	Hematologic disease
IMD122	H00091	T-B+Severe combined immunodeficiency	Primary immunodeficiency
DFNA70	H00604	Deafness, autosomal dominant	Nervous system disease
IMD54	H00094	Immunodeficiency associated with DNA repair defects	Primary immunodeficiency
MGORS8	H01889	Meier-Gorlin syndrome	Congenital malformation
SCID/OMENN	H00092	T-B-Severe combined immunodeficiency	Primary immunodeficiency
	H01244	T+B+Severe combined immunodeficiencies (SCIDs)	Primary immunodeficiency
	H02554	Omenn syndrome	Immune system disease
SCID	H00092	T-B-Severe combined immunodeficiency	Primary immunodeficiency
LIG4	H02015	LIG4 syndrome	Immune system disease
SSMED	H02578	Short stature, microcephaly, and endocrine dysfunction	Congenital malformation
SCID	H00924	Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation	Primary immunodeficiency