ATM signaling in development and disease

No Pathway Network information available for ATM signaling in development and disease

Pathways in the ATM signaling in development and disease SuperPath

#	Name	Source	Genes
1	ATM signaling in development and disease	WikiPathways	ATF2 ATM ATMIN ATR AURKB BUB1 CDK1 CDK5 CDK5R1 CEP63 CHEK1 CHEK2 DCLRE1C G6PD H2AX HDAC4 HMGN1 HSPB1 IKBKG KAT5 LBR MAP3K5 MDC1 MRE11 MTOR NBN NFKB1 PPM1D PPP5C PRKAA1 PRKDC PTPA RAD50 RASGRF1 RBBP8 RIF1 RNF168 RNF20 RNF40 RNF8 SMC1A STK11 TP53BP1 TRIM28 TSC2 (see all 45) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	CDK1	Cyclin Dependent Kinase 1	Protein Coding	1
2	HDAC4	Histone Deacetylase 4	Protein Coding	1
3	AURKB	Aurora Kinase B	Protein Coding	1
4	RNF8	Ring Finger Protein 8	Protein Coding	1
5	CDK5R1	Cyclin Dependent Kinase 5 Regulatory Subunit 1	Protein Coding	1
6	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	1
7	PPM1D	Protein Phosphatase, Mg2+/Mn2+ Dependent 1D	Protein Coding	1
8	SMC1A	Structural Maintenance Of Chromosomes 1A	Protein Coding	1
9	CEP63	Centrosomal Protein 63	Protein Coding	1
10	TSC2	TSC Complex Subunit 2	Protein Coding	1
11	TP53BP1	Tumor Protein P53 Binding Protein 1	Protein Coding	1
12	BUB1	BUB1 Mitotic Checkpoint Serine/Threonine Kinase	Protein Coding	1
13	STK11	Serine/Threonine Kinase 11	Protein Coding	1
14	DCLRE1C	DNA Cross-Link Repair 1C	Protein Coding	1
15	RBBP8	RB Binding Protein 8, Endonuclease	Protein Coding	1
16	RASGRF1	Ras Protein Specific Guanine Nucleotide Releasing Factor 1	Protein Coding	1
17	PRKDC	Protein Kinase, DNA-Activated, Catalytic Subunit	Protein Coding	1
18	PRKAA1	Protein Kinase AMP-Activated Catalytic Subunit Alpha 1	Protein Coding	1
19	PTPA	Protein Phosphatase 2 Phosphatase Activator	Protein Coding	1
20	ATR	ATR Checkpoint Kinase	Protein Coding	1
21	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
22	ATM	ATM Serine/Threonine Kinase	Protein Coding	1
23	NBN	Nibrin	Protein Coding	1
24	MRE11	MRE11 Double Strand Break Repair Nuclease	Protein Coding	1
25	MAP3K5	Mitogen-Activated Protein Kinase Kinase Kinase 5	Protein Coding	1
26	LBR	Lamin B Receptor	Protein Coding	1
27	HSPB1	Heat Shock Protein Family B (Small) Member 1	Protein Coding	1
28	HMGN1	High Mobility Group Nucleosome Binding Domain 1	Protein Coding	1
29	H2AX	H2A.X Variant Histone	Protein Coding	1
30	G6PD	Glucose-6-Phosphate Dehydrogenase	Protein Coding	1
31	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
32	RNF168	Ring Finger Protein 168	Protein Coding	1
33	ATF2	Activating Transcription Factor 2	Protein Coding	1
34	CHEK2	Checkpoint Kinase 2	Protein Coding	1
35	CHEK1	Checkpoint Kinase 1	Protein Coding	1
36	KAT5	Lysine Acetyltransferase 5	Protein Coding	1
37	CDK5	Cyclin Dependent Kinase 5	Protein Coding	1
38	TRIM28	Tripartite Motif Containing 28	Protein Coding	1
39	RAD50	RAD50 Double Strand Break Repair Protein	Protein Coding	1
40	MDC1	Mediator Of DNA Damage Checkpoint 1	Protein Coding	1
41	RNF20	Ring Finger Protein 20	Protein Coding	1
42	PPP5C	Protein Phosphatase 5 Catalytic Subunit	Protein Coding	1
43	RIF1	Replication Timing Regulatory Factor 1	Protein Coding	1
44	RNF40	Ring Finger Protein 40	Protein Coding	1
45	ATMIN	ATM Interactor	Protein Coding	1

Disorders associated with ATM signaling in development and disease SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Pancreatic cancer	Enrichment	ATM, CHEK2, NBN, RBBP8, STK11	7.79
2	Ovarian cancer	Enrichment	ATM, CHEK2, MRE11, NBN, PPM1D, RAD50, TSC2	7.43
3	Breast cancer	Enrichment	ATM, CHEK2, MRE11, NBN, PPM1D, RAD50	6.80
4	Inherited cancer-predisposing syndrome	Enrichment	ATM, CHEK2, MRE11, NBN, RAD50, STK11, TSC2	6.63
5	Hereditary breast carcinoma	Enrichment	ATM, CHEK2, NBN, PPM1D, RAD50	6.50
6	Hereditary breast ovarian cancer syndrome	Enrichment	ATM, CHEK2, MRE11, NBN, RAD50	6.01
7	Colonic benign neoplasm	Enrichment	ATM, CHEK2, MRE11	5.55
8	Breast-ovarian cancer, familial 1	Enrichment	ATM, CHEK2, NBN	5.02
9	Glucosephosphate dehydrogenase deficiency	Enrichment	G6PD, IKBKG	4.97
10	Gastric cancer	Enrichment	ATM, CHEK2, NBN, STK11	4.93
11	Focal cortical dysplasia, type ii	Enrichment	MTOR, TSC2	4.19
12	Nijmegen breakage syndrome-like disorder	Enrichment	MRE11, RAD50	4.19
13	Isolated focal cortical dysplasia type ii	Enrichment	MTOR, TSC2	4.19
14	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	G6PD, IKBKG	3.97
15	Prostate cancer	Enrichment	ATM, CHEK2, NBN	3.93
16	Wilms tumor 5	Enrichment	CHEK2, TRIM28	3.80
17	Renal cell carcinoma, papillary, 1	Enrichment	ATM, MTOR	3.65
18	Coronary heart disease 5	Enrichment	G6PD, IKBKG	3.42
19	Lynch syndrome 1	Enrichment	ATM, CHEK2	3.32
20	Melanoma	Enrichment	CHEK2, STK11	3.32
21	Uterine corpus cancer	Enrichment	ATM, CHEK2	3.24
22	Familial colorectal cancer type x	Enrichment	ATM, CHEK2	3.24
23	Nk-cell enteropathy	Enrichment	AURKB, CHEK2	3.09
24	Seckel syndrome	Enrichment	ATR, RBBP8	3.02
25	Renal cell carcinoma, nonpapillary	Enrichment	ATM, MTOR	2.96
26	Wilms tumor 1	Enrichment	CHEK2, TRIM28	2.96
27	Diffuse large b-cell lymphoma	Enrichment	CHEK2, NBN	2.75
28	Endometrial cancer	Enrichment	ATM, CHEK2	2.66
29	Hepatocellular carcinoma	Enrichment	NBN, RAD50	2.62
30	Malaria	Enrichment	G6PD, IKBKG	2.58
31	Colorectal cancer	Enrichment	ATM, BUB1, CHEK2	2.53
32	Developmental and epileptic encephalopathy 85 with or without midline brain defects	Enrichment	SMC1A	2.48
33	Incontinentia pigmenti	Enrichment	IKBKG	2.48
34	Autoinflammatory disease, systemic, x-linked	Enrichment	IKBKG	2.48
35	Seckel syndrome 2	Enrichment	RBBP8	2.48
36	Seckel syndrome 1	Enrichment	ATR	2.48
37	Greenberg dysplasia	Enrichment	LBR	2.48
38	Lissencephaly 7 with cerebellar hypoplasia	Enrichment	CDK5	2.48
39	Pelger-huet anomaly	Enrichment	LBR	2.48
40	Rhizomelic skeletal dysplasia with or without pelger-huet anomaly	Enrichment	LBR	2.48
41	Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development	Enrichment	PTPA	2.48
42	Chromosome 2q37 deletion syndrome	Enrichment	HDAC4	2.48
43	Ectodermal dysplasia and immunodeficiency 1	Enrichment	IKBKG	2.48
44	Jawad syndrome	Enrichment	RBBP8	2.48
45	Tumor predisposition syndrome 4	Enrichment	CHEK2	2.48
46	Riddle syndrome	Enrichment	RNF168	2.48
47	Ataxia-telangiectasia-like disorder 1	Enrichment	MRE11	2.48
48	Charcot-marie-tooth disease, axonal, type 2f	Enrichment	HSPB1	2.48
49	Cutaneous telangiectasia and cancer syndrome, familial	Enrichment	ATR	2.48
50	Immunodeficiency 26 with or without neurologic abnormalities	Enrichment	PRKDC	2.48
51	Seckel syndrome 6	Enrichment	CEP63	2.48
52	Endometrial serous adenocarcinoma	Enrichment	ATM	2.48
53	Reynolds syndrome	Enrichment	LBR	2.48
54	Jansen-de vries syndrome	Enrichment	PPM1D	2.48
55	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	Enrichment	HDAC4	2.48
56	Leiomyosarcoma	Enrichment	CHEK2	2.48
57	Microcephaly 30, primary, autosomal recessive	Enrichment	BUB1	2.48
58	Oocyte/zygote/embryo maturation arrest 21	Enrichment	CHEK1	2.48
59	B-cell non-hodgkin lymphoma	Enrichment	ATM	2.48
60	Congenital nonspherocytic hemolytic anemia	Enrichment	G6PD	2.48
61	Wilms tumor 7	Enrichment	TRIM28	2.48
62	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Enrichment	ATR	2.48
63	Intestinal polyposis syndrome	Enrichment	STK11	2.48
64	Peutz-jeghers syndrome	Enrichment	STK11	2.18
65	Cornelia de lange syndrome 2	Enrichment	SMC1A	2.18
66	Immunodeficiency 33	Enrichment	IKBKG	2.18
67	Lymphangioleiomyomatosis	Enrichment	TSC2	2.18
68	Neuronopathy, distal hereditary motor, autosomal dominant 3	Enrichment	HSPB1	2.18
69	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	2.18
70	Congenital heart defects, multiple types, 3	Enrichment	CHEK2	2.18
71	Severe combined immunodeficiency with sensitivity to ionizing radiation	Enrichment	DCLRE1C	2.18
72	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	Enrichment	KAT5	2.18
73	Cardiac valvular dysplasia, x-linked	Enrichment	ATM	2.18
74	Cebalid syndrome	Enrichment	MTOR	2.18
75	Microcephaly and chorioretinopathy, autosomal recessive, 3	Enrichment	TP53BP1	2.18
76	High grade glioma	Enrichment	ATM	2.18
77	Li-fraumeni syndrome 1	Enrichment	CHEK2	2.18
78	Sarcoma	Enrichment	CHEK2	2.18
79	Congenital hemolytic anemia	Enrichment	G6PD	2.18
80	Ectodermal dysplasia and immune deficiency	Enrichment	IKBKG	2.18
81	T-cell prolymphocytic leukemia	Enrichment	ATM	2.18
82	Smith-kingsmore syndrome	Enrichment	MTOR	2.18
83	Microcephaly and chorioretinopathy 3	Enrichment	TP53BP1	2.18
84	Common variable immunodeficiency 12	Enrichment	NFKB1	2.18
85	Ataxia-telangiectasia	Enrichment	ATM	2.00
86	Nijmegen breakage syndrome	Enrichment	NBN	2.00
87	Polycythemia vera	Enrichment	ATM	2.00
88	Tuberous sclerosis 1	Enrichment	TSC2	2.00
89	Polycystic kidney disease, infantile severe, with tuberous sclerosis	Enrichment	TSC2	2.00
90	Osteogenic sarcoma	Enrichment	CHEK2	2.00
91	Tuberous sclerosis 2	Enrichment	TSC2	2.00
92	Ehlers-danlos syndrome, kyphoscoliotic type, 1	Enrichment	DCLRE1C	2.00
93	Myopathy, myofibrillar, 7	Enrichment	CEP63	2.00
94	Arthrogryposis multiplex congenita 6	Enrichment	RIF1	2.00
95	Koolen-de vries syndrome	Enrichment	ATM	2.00
96	Hamartoma	Enrichment	TSC2	2.00
97	Testicular germ cell cancer	Enrichment	STK11	2.00
98	Xanthinuria, type ii	Enrichment	TSC2	2.00
99	Adenocarcinoma	Enrichment	ATM	2.00
100	Bone osteosarcoma	Enrichment	CHEK2	2.00
101	Plod1-related kyphoscoliotic ehlers-danlos syndrome	Enrichment	DCLRE1C	2.00
102	Testicular cancer	Enrichment	STK11	2.00
103	Apc-associated polyposis conditions	Enrichment	STK11	2.00
104	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	Enrichment	MRE11	1.88
105	Nemaline myopathy 2	Enrichment	RIF1	1.88
106	Aicardi-goutieres syndrome 1	Enrichment	DCLRE1C	1.88
107	Mantle cell lymphoma	Enrichment	ATM	1.88
108	Tuberous sclerosis	Enrichment	TSC2	1.88
109	Hemoglobin c disease	Enrichment	CHEK2	1.88
110	Autosomal recessive chorioretinopathy-microcephaly syndrome	Enrichment	TP53BP1	1.88
111	Oculomotor apraxia	Enrichment	ATM	1.88
112	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	CHEK1	1.88
113	Myeloma, multiple	Enrichment	ATM, HDAC4	1.83
114	Primary ovarian insufficiency	Enrichment	CHEK2, NBN	1.79
115	Neuronopathy, distal hereditary motor, autosomal dominant 2	Enrichment	HSPB1	1.78
116	Familial adenomatous polyposis 1	Enrichment	STK11	1.78
117	Glioblastoma	Enrichment	ATM	1.78
118	Hemimegalencephaly	Enrichment	MTOR	1.78
119	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	STK11	1.78
120	Li-fraumeni syndrome	Enrichment	CHEK2	1.70
121	Testicular germ cell tumor	Enrichment	STK11	1.70
122	Wiedemann-steiner syndrome	Enrichment	SMC1A	1.70
123	Clear cell renal cell carcinoma	Enrichment	ATM	1.70
124	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	TSC2	1.64
125	Polycystic kidney disease 1	Enrichment	TSC2	1.64
126	Common variable immunodeficiency	Enrichment	NFKB1	1.64
127	Overgrowth syndrome	Enrichment	MTOR	1.64
128	Rett syndrome, congenital variant	Enrichment	SMC1A	1.58
129	Mosaic variegated aneuploidy syndrome	Enrichment	BUB1	1.58
130	Cornelia de lange syndrome 1	Enrichment	SMC1A	1.53
131	Adult hepatocellular carcinoma	Enrichment	TSC2	1.53
132	Cornelia de lange syndrome	Enrichment	SMC1A	1.53
133	Leukemia, chronic lymphocytic	Enrichment	ATM	1.49
134	Omenn syndrome	Enrichment	DCLRE1C	1.49
135	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	1.49
136	Aplastic anemia	Enrichment	NBN	1.49
137	Nemaline myopathy	Enrichment	RIF1	1.49
138	Immune deficiency disease	Enrichment	ATM	1.44
139	Leukemia, acute lymphoblastic	Enrichment	NBN	1.44
140	Lip and oral cavity carcinoma	Enrichment	STK11	1.41
141	Premature menopause	Enrichment	NBN	1.37
142	Congenital nervous system abnormality	Enrichment	SMC1A, TSC2	1.32
143	Nervous system disease	Enrichment	SMC1A, TSC2	1.32
144	Lynch syndrome	Enrichment	CHEK2	1.31
145	Autosomal dominant polycystic kidney disease	Enrichment	TSC2	1.31
146	Rare genetic intellectual disability	Enrichment	MTOR	1.31
147	Gliosarcoma	Enrichment	ATM	1.29
148	Melanoma, cutaneous malignant 1	Enrichment	STK11	1.26
149	Giant cell glioblastoma	Enrichment	ATM	1.26
150	Semilobar holoprosencephaly	Enrichment	SMC1A	1.24
151	Microcephaly	Enrichment	NBN, SMC1A	1.20
152	Lissencephaly	Enrichment	NBN	1.17
153	Muscular dystrophy	Enrichment	RIF1	1.12
154	Jeune thoracic dystrophy	Enrichment	LBR	1.10
155	Asphyxiating thoracic dystrophy	Enrichment	LBR	1.05
156	Bladder cancer	Enrichment	ATM	1.04
157	Lung cancer	Enrichment	CHEK2	1.00
158	Primary autosomal recessive microcephaly	Enrichment	CEP63	1.00
159	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	LBR	0.98
160	Severe combined immunodeficiency	Enrichment	DCLRE1C	0.98
161	Charcot-marie-tooth disease	Enrichment	HSPB1	0.89
162	Hereditary spastic paraplegia	Enrichment	CEP63	0.88
163	West syndrome	Enrichment	TSC2	0.87
164	Autosomal dominant non-syndromic intellectual disability	Enrichment	PPM1D	0.81
165	Autism spectrum disorder	Enrichment	TSC2	0.52

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

ATM signaling in development and disease

Pathway Network for ATM signaling in development and disease

Member Pathways for ATM signaling in development and disease

Pathways in the ATM signaling in development and disease SuperPath

Associated Genes for ATM signaling in development and disease

Associated Disorders for ATM signaling in development and disease

Disorders associated with ATM signaling in development and disease SuperPath

STRING Interaction Network for ATM signaling in development and disease

Sources for ATM signaling in development and disease