DNA Double Strand Break Response

Pathway network for the DNA Double Strand Break Response SuperPath

Sources:
  • Reactome

Pathways in the DNA Double Strand Break Response SuperPath

#NameSourceGenes
1DNA Double Strand Break ResponseReactome
2Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksReactome
3Nonhomologous End-Joining (NHEJ)Reactome
4Sensing of DNA Double Strand BreaksReactome

Gene overlap in member pathways for DNA Double Strand Break Response SuperPath

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

Disorders associated with DNA Double Strand Break Response SuperPath

according to GeneCards Suite gene sharing
#DisorderTypeGenesScore
1Breast cancerEnrichmentABRAXAS1, ATM, BARD1, BRCA1, CHEK2, MRE11, NBN, RAD50, TP539.47
2Hereditary breast ovarian cancer syndromeEnrichmentATM, BARD1, BRCA1, CHEK2, MRE11, NBN, RAD50, TP539.14
3Inherited cancer-predisposing syndromeEnrichmentABRAXAS1, ATM, BAP1, BARD1, BRCA1, CHEK2, MRE11, NBN, RAD50, TP538.47
4Hereditary breast carcinomaEnrichmentATM, BARD1, BRCA1, CHEK2, NBN, RAD50, TP538.33
5Ovarian cancerEnrichmentATM, MRE11, NBN, RAD507.37
6Tessadori-bicknell-van haaften neurodevelopmental syndrome 4EnrichmentH2BC12, H4C1, H4C96.92
7Gastric cancerEnrichmentATM, BARD1, BRCA1, CHEK2, NBN, TP536.85
8Pancreatic cancerEnrichmentATM, BRCA1, CHEK2, NBN, TP536.60
9Prostate cancerEnrichmentATM, BRCA1, CHEK2, NBN, TP536.26
10Breast-ovarian cancer, familial 1EnrichmentATM, BRCA1, CHEK2, NBN6.18
11Nijmegen breakage syndrome-like disorderEnrichmentMRE11, RAD506.01
12Endometrial cancerEnrichmentATM, BARD1, BRCA1, CHEK25.27
13Colonic benign neoplasmEnrichmentATM, MRE115.23
14Lig4 syndromeEnrichmentLIG4, XRCC44.61
15Tessadori-bicknell-van haaften neurodevelopmental syndrome 1EnrichmentH4C1, H4C34.61
16Tessadori-bicknell-van haaften neurodevelopmental syndrome 2EnrichmentH4C1, H4C114.61
17Uterine corpus cancerEnrichmentATM, BRCA1, CHEK24.55
18Li-fraumeni syndrome 1EnrichmentCHEK2, TP534.50
19SarcomaEnrichmentCHEK2, TP534.50
20Hepatocellular carcinomaEnrichmentNBN, RAD504.43
21Tessadori-bicknell-van haaften neurodevelopmental syndrome 3EnrichmentH4C1, H4C54.13
22Osteogenic sarcomaEnrichmentCHEK2, TP534.02
23AdenocarcinomaEnrichmentATM, TP534.02
24Bone osteosarcomaEnrichmentCHEK2, TP534.02
25Diffuse large b-cell lymphomaEnrichmentCHEK2, NBN, TP533.80
26Myeloma, multipleEnrichmentATM, BAP1, BARD1, TP533.55
27Ataxia-telangiectasia-like disorder 1EnrichmentMRE113.35
28Endometrial serous adenocarcinomaEnrichmentATM3.35
29B-cell non-hodgkin lymphomaEnrichmentATM3.35
30Li-fraumeni syndromeEnrichmentCHEK2, TP533.33
31Clear cell renal cell carcinomaEnrichmentATM, BAP13.33
32Bladder cancerEnrichmentATM, BRCA1, TP533.24
33Severe combined immunodeficiencyEnrichmentDCLRE1C, LIG4, NHEJ13.23
34B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)EnrichmentABL1, TP533.18
35Complex neurodevelopmental disorderEnrichmentBAP1, H4C3, H4C5, H4C9, KDM4B3.16
36Glioma susceptibility 1EnrichmentBAP1, TP533.06
37Ewing sarcomaEnrichmentBAP1, SMARCA53.06
38Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalitiesEnrichmentKAT53.05
39Cardiac valvular dysplasia, x-linkedEnrichmentATM3.05
40High grade gliomaEnrichmentATM3.05
41T-cell prolymphocytic leukemiaEnrichmentATM3.05
42Omenn syndromeEnrichmentDCLRE1C, LIG42.96
43Ataxia-telangiectasiaEnrichmentATM2.88
44Nijmegen breakage syndromeEnrichmentNBN2.88
45Polycythemia veraEnrichmentATM2.88
46Koolen-de vries syndromeEnrichmentATM2.88
47Lynch syndrome 1EnrichmentATM, CHEK22.86
48Leukemia, chronic lymphocyticEnrichmentATM, TP532.86
49Colorectal cancerEnrichmentATM, BRCA1, CHEK2, TP532.83
50Familial colorectal cancer type xEnrichmentATM, CHEK22.77
51Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemiaEnrichmentMRE112.75
52Mantle cell lymphomaEnrichmentATM2.75
53Oculomotor apraxiaEnrichmentATM2.75
54Lip and oral cavity carcinomaEnrichmentABL1, TP532.69
55GlioblastomaEnrichmentATM2.66
56Renal cell carcinoma, papillary, 1EnrichmentATM2.51
57Renal cell carcinoma, nonpapillaryEnrichmentATM, BAP12.50
58RhabdomyosarcomaEnrichmentBRCA1, TP532.44
59GliosarcomaEnrichmentATM, TP532.44
60Giant cell glioblastomaEnrichmentATM, TP532.39
61Aplastic anemiaEnrichmentNBN2.35
62Immune deficiency diseaseEnrichmentATM2.31
63Leukemia, acute lymphoblasticEnrichmentNBN2.31
64Palmoplantar keratoderma, punctate type iiEnrichmentBRCA12.30
65Immunodeficiency 124, severe combinedEnrichmentNHEJ12.30
66Spinocerebellar ataxia, autosomal recessive 23EnrichmentTDP22.30
67Infant-type hemispheric gliomaEnrichmentBRCA12.30
68Riddle syndromeEnrichmentRNF1682.30
69Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1EnrichmentTDP12.30
70Intellectual developmental disorder, autosomal recessive 38EnrichmentHERC22.30
71Immunodeficiency 26 with or without neurologic abnormalitiesEnrichmentPRKDC2.30
72Rauch-steindl syndromeEnrichmentNSD22.30
73Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeEnrichmentBRCC32.30
74Microphthalmia/coloboma 13EnrichmentNHEJ12.30
75Primary peritoneal carcinomaEnrichmentBRCA12.30
76Melanoma, uveal 2EnrichmentBAP12.25
77Otofaciocervical syndrome 1EnrichmentEYA12.25
78Bone marrow failure syndrome 5EnrichmentTP532.25
79Orofacial cleft 10EnrichmentSUMO12.25
80Papilloma of choroid plexusEnrichmentTP532.25
81Basal cell carcinoma 7EnrichmentTP532.25
82Anaplastic thyroid carcinomaEnrichmentTP532.25
83Tumor predisposition syndrome 4EnrichmentCHEK22.25
84Ductal carcinoma in situEnrichmentTP532.25
85LeiomyosarcomaEnrichmentCHEK22.25
86Thyroid gland undifferentiated carcinomaEnrichmentTP532.25
87Small-cell carcinoma of the ovary of hypercalcemic typeEnrichmentTP532.25
88Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtypeEnrichmentTP532.25
89Choroid plexus cancerEnrichmentTP532.25
90Pleomorphic xanthoastrocytomaEnrichmentTP532.25
91Premature menopauseEnrichmentNBN2.24
92HepatoblastomaEnrichmentBARD1, TP532.21
93LissencephalyEnrichmentNBN2.03
94Chromosome 2q35 duplication syndromeEnrichmentNHEJ12.00
95Skin/hair/eye pigmentation, variation in, 1EnrichmentHERC22.00
96Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphismEnrichmentBRCC32.00
97MacroglossiaEnrichmentNSD22.00
98Dubowitz syndromeEnrichmentLIG42.00
99Severe combined immunodeficiency with sensitivity to ionizing radiationEnrichmentDCLRE1C2.00
100Fanconi anemia, complementation group sEnrichmentBRCA12.00
101Pancreatic cancer 4EnrichmentBRCA12.00
102Microcephaly and chorioretinopathy, autosomal recessive, 3EnrichmentTP53BP12.00
103Short stature, microcephaly, and endocrine dysfunctionEnrichmentXRCC42.00
104Inflammatory breast carcinomaEnrichmentBRCA12.00
105Fissured tongueEnrichmentNSD22.00
106Peritoneum cancerEnrichmentBRCA12.00
107Bilateral breast cancerEnrichmentBRCA12.00
108Microcephaly and chorioretinopathy 3EnrichmentTP53BP12.00
109Microcephalic primordial dwarfism-insulin resistance syndromeEnrichmentXRCC42.00
110Adrenocortical carcinoma, hereditaryEnrichmentTP531.95
111Cervical cancerEnrichmentTP531.95
112Lymphoma, hodgkin, classicEnrichmentTP531.95
113Congenital heart defects, multiple types, 3EnrichmentCHEK21.95
114Intellectual developmental disorder, autosomal dominant 65EnrichmentKDM4B1.95
115Congenital heart defects and skeletal malformations syndromeEnrichmentABL11.95
116Branchiootic syndromeEnrichmentEYA11.95
117Congenital fibrosarcomaEnrichmentTP531.95
118Branchiootic syndrome 1EnrichmentEYA11.95
119Ocular melanomaEnrichmentBAP11.95
120Cervix carcinomaEnrichmentTP531.95
121Hodgkin's lymphomaEnrichmentTP531.95
122Kury-isidor syndromeEnrichmentBAP11.95
123Otofaciocervical syndromeEnrichmentEYA11.95
124Pleomorphic rhabdomyosarcomaEnrichmentTP531.95
125Submucosal cleft palateEnrichmentUBB1.95
126Cleft hard palateEnrichmentUBB1.95
127Lung cancerEnrichmentBRCA1, CHEK21.85
128Ehlers-danlos syndrome, kyphoscoliotic type, 1EnrichmentDCLRE1C1.82
129Arthrogryposis multiplex congenita 6EnrichmentRIF11.82
130Plod1-related kyphoscoliotic ehlers-danlos syndromeEnrichmentDCLRE1C1.82
131Isolated anophthalmia-microphthalmia syndromeEnrichmentNHEJ11.82
132Mesothelioma, malignantEnrichmentBAP11.77
133Uvula, bifidEnrichmentUBB1.77
134Niemann-pick disease, type aEnrichmentAPBB11.77
135Deafness, autosomal dominant 10EnrichmentEYA41.77
136Cardiomyopathy, dilated, 1jEnrichmentEYA41.77
137Cleft soft palateEnrichmentUBB1.77
138Niemann-pick disease, type bEnrichmentAPBB11.77
139Nasopharyngeal carcinomaEnrichmentTP531.77
140Tumor predisposition syndrome 1EnrichmentBAP11.77
141Atypical teratoid rhabdoid tumorEnrichmentTP531.77
142Anaplastic astrocytomaEnrichmentTP531.77
143Squamous cell carcinomaEnrichmentTP531.77
144T-cell acute lymphoblastic leukemiaEnrichmentABL11.77
145Bap1 tumor predisposition syndromeEnrichmentBAP11.77
146Nemaline myopathy 2EnrichmentRIF11.70
147Polyposis syndrome, hereditary mixed, 1EnrichmentBRCA11.70
148CholangiocarcinomaEnrichmentBRCA11.70
149Aicardi-goutieres syndrome 1EnrichmentDCLRE1C1.70
150Autosomal recessive chorioretinopathy-microcephaly syndromeEnrichmentTP53BP11.70
151Branchiooculofacial syndromeEnrichmentEYA11.65
152Small cell cancer of the lungEnrichmentTP531.65
153Thyroid cancer, nonmedullary, 1EnrichmentTP531.65
154Lung sarcomatoid carcinomaEnrichmentTP531.65
155Chronic myelogenous leukemia, bcr-abl1 positiveEnrichmentABL11.65
156Embryonal rhabdomyosarcomaEnrichmentTP531.65
157Hemoglobin c diseaseEnrichmentCHEK21.65
158Breast-ovarian cancer, familial 2EnrichmentBRCA11.61
159HypoglycemiaEnrichmentNSD21.61
160Primary ovarian insufficiencyEnrichmentNBN1.59
161Niemann-pick disease, type c1EnrichmentAPBB11.55
162Rhabdomyosarcoma 2EnrichmentTP531.55
163LymphomaEnrichmentTP531.55
164Niemann-pick diseaseEnrichmentAPBB11.55
165Acute megakaryocytic leukemiaEnrichmentTP531.55
166Wolf-hirschhorn syndromeEnrichmentNSD21.53
167MicrocephalyEnrichmentABL1, NBN, SMARCA51.48
168Melanoma, uvealEnrichmentBAP11.47
169Branchiootorenal syndrome 1EnrichmentEYA11.47
170Wilms tumor 5EnrichmentCHEK21.47
171Adrenocortical carcinomaEnrichmentTP531.47
172Breast adenocarcinomaEnrichmentTP531.47
173Prader-willi syndromeEnrichmentHERC21.46
174Esophageal cancerEnrichmentTP531.41
175Squamous cell carcinoma, head and neckEnrichmentTP531.41
176Leukemia, chronic myeloidEnrichmentABL11.41
177Branchiootorenal syndromeEnrichmentEYA11.41
178Essential thrombocythemiaEnrichmentTP531.41
179Gallbladder cancerEnrichmentTP531.41
180Moyamoya angiopathyEnrichmentABL11.41
181Isolated growth hormone deficiency, type iaEnrichmentXRCC41.40
182Ventricular septal defectEnrichmentNSD21.35
183Lymphoma, non-hodgkin, familialEnrichmentTP531.35
184Nemaline myopathyEnrichmentRIF11.31
185Adult hepatocellular carcinomaEnrichmentTP531.30
186Primary hyperaldosteronismEnrichmentTP531.30
187Renal agenesis, bilateralEnrichmentEYA11.30
188MelanomaEnrichmentCHEK21.26
189Familial colorectal cancerEnrichmentTP531.26
190Myelodysplastic syndromeEnrichmentTP531.22
191Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactylyEnrichmentNSD21.20
192ClubfootEnrichmentNSD21.20
193Protein-deficiency anemiaEnrichmentNSD21.20
194MeningiomaEnrichmentBAP11.18
195Periventricular nodular heterotopiaEnrichmentBRCA11.17
196Nk-cell enteropathyEnrichmentCHEK21.15
197Rare genetic deafnessEnrichmentEYA1, EYA41.13
198Lung cancer susceptibility 3EnrichmentTP531.12
199Heart diseaseEnrichmentABL11.12
200Wilms tumor 1EnrichmentCHEK21.09
201Lynch syndromeEnrichmentCHEK21.09
202Syndromic intellectual disabilityEnrichmentNSD21.09
203Melanoma, cutaneous malignant 1EnrichmentBAP11.03
204Williams-beuren syndromeEnrichmentBAZ1B0.97
205Focal segmental glomerulosclerosisEnrichmentEYA10.97
206Muscular dystrophyEnrichmentRIF10.94
207Tooth agenesisEnrichmentSUMO10.93
208Diamond-blackfan anemia 1EnrichmentTP530.91
209Precursor t-cell acute lymphoblastic leukemiaEnrichmentABL10.91
210Fanconi anemia, complementation group aEnrichmentBRCA10.79
211Diamond-blackfan anemiaEnrichmentTP530.73
212Non-syndromic genetic deafnessEnrichmentEYA40.73
213Hypertrophic cardiomyopathyEnrichmentNSD20.71
214Leukemia, acute myeloidEnrichmentTP530.69
215Nonsyndromic hearing lossEnrichmentEYA40.67
216ThrombocytopeniaEnrichmentNSD20.67
217Rare autosomal dominant non-syndromic sensorineural deafness type dfnaEnrichmentEYA40.59

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