Chks in Checkpoint Regulation

Pathway network for the Chks in Checkpoint Regulation SuperPath

Sources:

QIAGEN

Pathways in the Chks in Checkpoint Regulation SuperPath

#	Name	Source	Genes
1	Chks in Checkpoint Regulation	QIAGEN	ATM ATR BRCA1 CDC25A CDC25C CDK1 CDK2 CDKN1A CHEK1 CHEK2 E2F1 E2F2 E2F3 E2F4 E2F5 HUS1 MDM2 MRE11 NBN PCNA PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB10 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMB8 PSMB9 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD2 PSMD3 PSMD4 PSMD5 PSMD6 PSMD7 RAD1 RAD17 RAD50 RAD9A TLK1 TLK2 TP53 (see all 57) (see less)
2	DNA Repair Mechanisms	QIAGEN	APEX1 ARPC3 ATM ATR ATRIP BARD1 BRCA1 BRCA2 CHEK1 CHEK2 DCLRE1A ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 FANCA FANCC FANCD2 FANCE FANCF FANCG FEN1 GADD45A GADD45B GADD45G GTF2H1 GTF2H2 GTF2H3 HUS1 IGF1 LIG1 LIG3 LIG4 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK8 MAPK9 MBD4 MDM2 MGMT MRE11 MSH2 MSH3 MSH6 NBN NTHL1 OGG1 PARP1 PCNA PNKP POLA1 POLB POLD1 POLD2 POLD4 POLE POLE2 POLE4 POLG POLH POLK POLQ POLR1A POLR1B POLR1C POLR1D POLR2A POLR2B POLR2C POLR3D POLR3F POLR3K PRKDC PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB10 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMB8 PSMB9 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD2 PSMD3 PSMD4 PSMD5 PSMD6 PSMD7 RAD1 RAD17 RAD23B RAD50 RAD51 RAD9A RPA2 RPA3 SMUG1 TENT4A TP53 TREX1 TREX2 XAB2 XPA XPC XRCC1 XRCC4 XRCC5 XRCC6 (see all 129) (see less)
3	Estrogen-mediated S-Phase Entry	QIAGEN	CCNA1 CCNA2 CCND1 CCNE1 CCNE2 CDC25A CDK1 CDK2 CDK4 CDKN1A CDKN1B E2F1 E2F2 E2F3 E2F4 E2F5 ESR1 ESR2 MYC PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB10 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMB8 PSMB9 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD2 PSMD3 PSMD4 PSMD5 PSMD6 PSMD7 RB1 RBL1 SKP2 TFDP1 (see all 53) (see less)
4	G2-M Phase Transition	QIAGEN	ATM ATR CCNB1 CCNB2 CCNB3 CDC25C CDK1 CDKN1A CHEK1 CHEK2 MDM2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB10 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMB8 PSMB9 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD2 PSMD3 PSMD4 PSMD5 PSMD6 PSMD7 TP53 YWHAB YWHAE YWHAG YWHAH YWHAQ YWHAZ (see all 48) (see less)

Gene overlap in member pathways for Chks in Checkpoint Regulation SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	PSMD6	Proteasome 26S Subunit, Non-ATPase 6	Protein Coding	4
2	PSMA1	Proteasome 20S Subunit Alpha 1	Protein Coding	4
3	PSMA2	Proteasome 20S Subunit Alpha 2	Protein Coding	4
4	PSMA3	Proteasome 20S Subunit Alpha 3	Protein Coding	4
5	PSMA4	Proteasome 20S Subunit Alpha 4	Protein Coding	4
6	PSMA5	Proteasome 20S Subunit Alpha 5	Protein Coding	4
7	PSMA6	Proteasome 20S Subunit Alpha 6	Protein Coding	4
8	PSMA7	Proteasome 20S Subunit Alpha 7	Protein Coding	4
9	PSMB1	Proteasome 20S Subunit Beta 1	Protein Coding	4
10	PSMB10	Proteasome 20S Subunit Beta 10	Protein Coding	4
11	PSMB2	Proteasome 20S Subunit Beta 2	Protein Coding	4
12	PSMB3	Proteasome 20S Subunit Beta 3	Protein Coding	4
13	PSMB4	Proteasome 20S Subunit Beta 4	Protein Coding	4
14	PSMB5	Proteasome 20S Subunit Beta 5	Protein Coding	4
15	PSMB6	Proteasome 20S Subunit Beta 6	Protein Coding	4
16	PSMB7	Proteasome 20S Subunit Beta 7	Protein Coding	4
17	PSMB8	Proteasome 20S Subunit Beta 8	Protein Coding	4
18	PSMB9	Proteasome 20S Subunit Beta 9	Protein Coding	4
19	PSMC1	Proteasome 26S Subunit, ATPase 1	Protein Coding	4
20	PSMC2	Proteasome 26S Subunit, ATPase 2	Protein Coding	4
21	PSMC3	Proteasome 26S Subunit, ATPase 3	Protein Coding	4
22	PSMC4	Proteasome 26S Subunit, ATPase 4	Protein Coding	4
23	PSMC5	Proteasome 26S Subunit, ATPase 5	Protein Coding	4
24	PSMC6	Proteasome 26S Subunit, ATPase 6	Protein Coding	4
25	PSMD1	Proteasome 26S Subunit, Non-ATPase 1	Protein Coding	4
26	PSMD2	Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 2	Protein Coding	4
27	PSMD3	Proteasome 26S Subunit, Non-ATPase 3	Protein Coding	4
28	PSMD4	Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 4	Protein Coding	4
29	PSMD5	Proteasome 26S Subunit, Non-ATPase 5	Protein Coding	4
30	PSMD7	Proteasome 26S Subunit, Non-ATPase 7	Protein Coding	4
31	ATM	ATM Serine/Threonine Kinase	Protein Coding	3
32	ATR	ATR Checkpoint Kinase	Protein Coding	3
33	CDK1	Cyclin Dependent Kinase 1	Protein Coding	3
34	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	3
35	CHEK1	Checkpoint Kinase 1	Protein Coding	3
36	CHEK2	Checkpoint Kinase 2	Protein Coding	3
37	MDM2	MDM2 Proto-Oncogene	Protein Coding	3
38	TP53	Tumor Protein P53	Protein Coding	3
39	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	2
40	CDC25A	Cell Division Cycle 25A	Protein Coding	2
41	CDC25C	Cell Division Cycle 25C	Protein Coding	2
42	CDK2	Cyclin Dependent Kinase 2	Protein Coding	2
43	E2F1	E2F Transcription Factor 1	Protein Coding	2
44	E2F2	E2F Transcription Factor 2	Protein Coding	2
45	E2F3	E2F Transcription Factor 3	Protein Coding	2
46	E2F4	E2F Transcription Factor 4	Protein Coding	2
47	E2F5	E2F Transcription Factor 5	Protein Coding	2
48	HUS1	HUS1 Checkpoint Clamp Component	Protein Coding	2
49	MRE11	MRE11 Double Strand Break Repair Nuclease	Protein Coding	2
50	NBN	Nibrin	Protein Coding	2
51	PCNA	Proliferating Cell Nuclear Antigen	Protein Coding	2
52	RAD1	RAD1 Checkpoint DNA Exonuclease	Protein Coding	2
53	RAD17	RAD17 Checkpoint Clamp Loader Component	Protein Coding	2
54	RAD50	RAD50 Double Strand Break Repair Protein	Protein Coding	2
55	RAD9A	RAD9 Checkpoint Clamp Component A	Protein Coding	2
56	TLK1	Tousled Like Kinase 1	Protein Coding	1
57	TLK2	Tousled Like Kinase 2	Protein Coding	1
58	PARP1	Poly(ADP-Ribose) Polymerase 1	Protein Coding	1
59	APEX1	Apurinic/Apyrimidinic Endodeoxyribonuclease 1	Protein Coding	1
60	ARPC3	Actin Related Protein 2/3 Complex Subunit 3	Protein Coding	1
61	ATRIP	ATR Interacting Protein	Protein Coding	1
62	BARD1	BRCA1 Associated RING Domain 1	Protein Coding	1
63	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	1
64	ERCC8	ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit	Protein Coding	1
65	DCLRE1A	DNA Cross-Link Repair 1A	Protein Coding	1
66	ERCC1	ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit	Protein Coding	1
67	ERCC2	ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit	Protein Coding	1
68	ERCC3	ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit	Protein Coding	1
69	ERCC4	ERCC Excision Repair 4, Endonuclease Catalytic Subunit	Protein Coding	1
70	ERCC5	ERCC Excision Repair 5, Endonuclease	Protein Coding	1
71	ERCC6	ERCC Excision Repair 6, Chromatin Remodeling Factor	Protein Coding	1
72	FANCA	FA Complementation Group A	Protein Coding	1
73	FANCC	FA Complementation Group C	Protein Coding	1
74	FANCD2	FA Complementation Group D2	Protein Coding	1
75	FANCE	FA Complementation Group E	Protein Coding	1
76	FANCF	FA Complementation Group F	Protein Coding	1
77	FANCG	FA Complementation Group G	Protein Coding	1
78	FEN1	Flap Structure-Specific Endonuclease 1	Protein Coding	1
79	XRCC6	X-Ray Repair Cross Complementing 6	Protein Coding	1
80	GADD45A	Growth Arrest And DNA Damage Inducible Alpha	Protein Coding	1
81	GADD45B	Growth Arrest And DNA Damage Inducible Beta	Protein Coding	1
82	GADD45G	Growth Arrest And DNA Damage Inducible Gamma	Protein Coding	1
83	GTF2H1	General Transcription Factor IIH Subunit 1	Protein Coding	1
84	GTF2H2	General Transcription Factor IIH Subunit 2	Protein Coding	1
85	GTF2H3	General Transcription Factor IIH Subunit 3	Protein Coding	1
86	IGF1	Insulin Like Growth Factor 1	Protein Coding	1
87	LIG1	DNA Ligase 1	Protein Coding	1
88	LIG3	DNA Ligase 3	Protein Coding	1
89	LIG4	DNA Ligase 4	Protein Coding	1
90	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	1
91	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	1
92	MAPK12	Mitogen-Activated Protein Kinase 12	Protein Coding	1
93	MAPK13	Mitogen-Activated Protein Kinase 13	Protein Coding	1
94	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	1
95	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	1
96	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	1
97	MBD4	Methyl-CpG Binding Domain 4, DNA Glycosylase	Protein Coding	1
98	MGMT	O-6-Methylguanine-DNA Methyltransferase	Protein Coding	1
99	MSH2	MutS Homolog 2	Protein Coding	1
100	MSH3	MutS Homolog 3	Protein Coding	1
101	MSH6	MutS Homolog 6	Protein Coding	1
102	NTHL1	Nth Like DNA Glycosylase 1	Protein Coding	1
103	OGG1	8-Oxoguanine DNA Glycosylase	Protein Coding	1
104	PNKP	Polynucleotide Kinase 3''-Phosphatase	Protein Coding	1
105	POLA1	DNA Polymerase Alpha 1, Catalytic Subunit	Protein Coding	1
106	POLB	DNA Polymerase Beta	Protein Coding	1
107	POLD1	DNA Polymerase Delta 1, Catalytic Subunit	Protein Coding	1
108	POLD2	DNA Polymerase Delta 2, Accessory Subunit	Protein Coding	1
109	POLD4	DNA Polymerase Delta 4, Accessory Subunit	Protein Coding	1
110	POLE	DNA Polymerase Epsilon, Catalytic Subunit	Protein Coding	1
111	POLE2	DNA Polymerase Epsilon 2, Accessory Subunit	Protein Coding	1
112	POLE4	DNA Polymerase Epsilon 4, Accessory Subunit	Protein Coding	1
113	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	1
114	POLH	DNA Polymerase Eta	Protein Coding	1
115	POLK	DNA Polymerase Kappa	Protein Coding	1
116	POLQ	DNA Polymerase Theta	Protein Coding	1
117	POLR1A	RNA Polymerase I Subunit A	Protein Coding	1
118	POLR1B	RNA Polymerase I Subunit B	Protein Coding	1
119	POLR1C	RNA Polymerase I And III Subunit C	Protein Coding	1
120	POLR2A	RNA Polymerase II Subunit A	Protein Coding	1
121	POLR2B	RNA Polymerase II Subunit B	Protein Coding	1
122	POLR2C	RNA Polymerase II Subunit C	Protein Coding	1
123	POLR3D	RNA Polymerase III Subunit D	Protein Coding	1
124	POLR3F	RNA Polymerase III Subunit F	Protein Coding	1
125	POLR3K	RNA Polymerase III Subunit K	Protein Coding	1
126	TENT4A	Terminal Nucleotidyltransferase 4A	Protein Coding	1
127	PRKDC	Protein Kinase, DNA-Activated, Catalytic Subunit	Protein Coding	1
128	RAD23B	RAD23 Nucleotide Excision Repair Protein B	Protein Coding	1
129	RAD51	RAD51 Recombinase	Protein Coding	1
130	RPA2	Replication Protein A2	Protein Coding	1
131	RPA3	Replication Protein A3	Protein Coding	1
132	POLR1D	RNA Polymerase I And III Subunit D	Protein Coding	1
133	SMUG1	Single-Strand-Selective Monofunctional Uracil-DNA Glycosylase 1	Protein Coding	1
134	TREX1	Three Prime Repair Exonuclease 1	Protein Coding	1
135	TREX2	Three Prime Repair Exonuclease 2	Protein Coding	1
136	XAB2	XPA Binding Protein 2~Name Same As:- HGNC:14337	Protein Coding	1
137	XPA	XPA, DNA Damage Recognition And Repair Factor	Protein Coding	1
138	XPC	XPC Complex Subunit, DNA Damage Recognition And Repair Factor	Protein Coding	1
139	XRCC1	X-Ray Repair Cross Complementing 1	Protein Coding	1
140	XRCC4	X-Ray Repair Cross Complementing 4	Protein Coding	1
141	XRCC5	X-Ray Repair Cross Complementing 5	Protein Coding	1
142	CCNA1	Cyclin A1	Protein Coding	1
143	CCNA2	Cyclin A2	Protein Coding	1
144	CCND1	Cyclin D1	Protein Coding	1
145	CCNE1	Cyclin E1	Protein Coding	1
146	CCNE2	Cyclin E2	Protein Coding	1
147	CDK4	Cyclin Dependent Kinase 4	Protein Coding	1
148	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	1
149	ESR1	Estrogen Receptor 1	Protein Coding	1
150	ESR2	Estrogen Receptor 2	Protein Coding	1
151	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
152	RB1	RB Transcriptional Corepressor 1	Protein Coding	1
153	RBL1	RB Transcriptional Corepressor Like 1	Protein Coding	1
154	SKP2	S-Phase Kinase Associated Protein 2	Protein Coding	1
155	TFDP1	Transcription Factor Dp-1	Protein Coding	1
156	CCNB1	Cyclin B1	Protein Coding	1
157	CCNB2	Cyclin B2	Protein Coding	1
158	CCNB3	Cyclin B3	Protein Coding	1
159	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	1
160	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	1
161	YWHAG	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma	Protein Coding	1
162	YWHAH	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta	Protein Coding	1
163	YWHAQ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Theta	Protein Coding	1
164	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	1

Disorders associated with Chks in Checkpoint Regulation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Breast cancer	Enrichment	ATM, BARD1, BRCA1, BRCA2, CHEK2, FANCC, MRE11, MSH2, MSH6, NBN, RAD50, RAD51, TP53	16.00
2	Ovarian cancer	Enrichment	ATM, BARD1, BRCA1, BRCA2, CHEK2, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCC, FANCD2, FANCE, FANCG, MRE11, MSH2, MSH6, NBN, RAD50, TP53, XPA, XPC	11.54
3	Pancreatic cancer	Enrichment	ATM, BRCA1, BRCA2, CHEK2, ERCC4, FANCE, FANCG, NBN, POLD1, TP53	11.45
4	Hereditary breast carcinoma	Enrichment	ATM, BARD1, BRCA1, BRCA2, CHEK2, MSH2, MSH6, NBN, RAD50, RAD51, TP53	10.89
5	Inherited cancer-predisposing syndrome	Enrichment	ATM, BARD1, BRCA1, BRCA2, CHEK2, ERCC3, FANCA, FANCC, MBD4, MRE11, MSH2, MSH3, MSH6, NBN, NTHL1, POLD1, POLE, RAD50, TP53	10.80
6	Xeroderma pigmentosum, variant type	Enrichment	ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, XPC	10.63
7	Hereditary breast ovarian cancer syndrome	Enrichment	ATM, BARD1, BRCA1, BRCA2, CHEK2, MRE11, MSH2, MSH6, NBN, RAD50, RAD51, TP53	10.60
8	Fanconi anemia, complementation group a	Enrichment	BRCA1, BRCA2, ERCC4, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, RAD51	10.46
9	Endometrial cancer	Enrichment	ATM, BARD1, BRCA1, BRCA2, CHEK2, MSH2, MSH3, MSH6	10.44
10	Prostate cancer	Enrichment	ATM, BRCA1, BRCA2, CHEK2, MSH6, NBN, POLK, TP53	9.70
11	Gastric cancer	Enrichment	ATM, BARD1, BRCA1, BRCA2, CHEK2, MSH2, MSH6, NBN, TP53	9.65
12	Uterine corpus cancer	Enrichment	ATM, BRCA1, BRCA2, CHEK2, MSH2, MSH6	9.50
13	Colorectal cancer	Enrichment	ATM, BRCA1, BRCA2, CHEK2, FANCC, FANCE, MSH2, MSH6, POLD1, POLE, TP53	9.24
14	Hepatoblastoma	Enrichment	BARD1, BRCA2, ERCC2, ERCC5, FANCA, MSH2, TP53	9.19
15	Breast-ovarian cancer, familial 1	Enrichment	ATM, BRCA1, BRCA2, CHEK2, MSH2, NBN	8.96
16	Familial colorectal cancer type x	Enrichment	ATM, BRCA2, CHEK2, POLD1, POLE	7.50
17	Xeroderma pigmentosum-cockayne syndrome complex	Enrichment	ERCC2, ERCC3, ERCC4, ERCC5	7.41
18	Cerebrooculofacioskeletal syndrome 1	Enrichment	ERCC1, ERCC2, ERCC5, ERCC6	6.94
19	Rhabdomyosarcoma	Enrichment	BRCA1, BRCA2, MSH2, MSH6, TP53	6.54
20	Li-fraumeni syndrome	Enrichment	CHEK2, MDM2, TP53	6.08
21	Lynch syndrome 1	Enrichment	ATM, CHEK2, MSH2, MSH6	5.80
22	Colonic benign neoplasm	Enrichment	ATM, CHEK2, MRE11	5.24
23	Bladder cancer	Enrichment	ATM, BRCA1, CDKN1A, TP53	5.21
24	Cockayne syndrome a	Enrichment	ERCC4, ERCC6, ERCC8	5.08
25	Proteasome-associated autoinflammatory syndrome 3	Enrichment	PSMB4, PSMB9	4.91
26	Li-fraumeni syndrome 1	Enrichment	CHEK2, TP53	4.91
27	Sarcoma	Enrichment	CHEK2, TP53	4.91
28	Gliosarcoma	Enrichment	ATM, MGMT, MSH2, TP53	4.89
29	Cockayne syndrome b	Enrichment	ERCC1, ERCC6, ERCC8	4.78
30	Giant cell glioblastoma	Enrichment	ATM, MGMT, MSH2, TP53	4.77
31	Diffuse large b-cell lymphoma	Enrichment	BRCA2, CHEK2, NBN, TP53	4.57
32	Treacher collins syndrome 1	Enrichment	POLR1B, POLR1C, POLR1D	4.54
33	Cockayne syndrome	Enrichment	ERCC4, ERCC6, ERCC8	4.54
34	Proteasome-associated autoinflammatory syndrome 1	Enrichment	PSMB4, PSMB8	4.44
35	Osteogenic sarcoma	Enrichment	CHEK2, TP53	4.44
36	Proteosome-associated autoinflammatory syndrome	Enrichment	PSMB4, PSMB8	4.44
37	Adenocarcinoma	Enrichment	ATM, TP53	4.44
38	Bone osteosarcoma	Enrichment	CHEK2, TP53	4.44
39	Lig4 syndrome	Enrichment	LIG4, XRCC4	4.05
40	Xeroderma pigmentosum, complementation group a	Enrichment	XPA, XPC	4.05
41	Inflammatory breast carcinoma	Enrichment	BRCA1, BRCA2	4.05
42	Cockayne syndrome type 3	Enrichment	ERCC6, ERCC8	4.05
43	Bilateral breast cancer	Enrichment	BRCA1, BRCA2	4.05
44	Hepatocellular carcinoma	Enrichment	NBN, RAD50, TP53	3.99
45	Nijmegen breakage syndrome-like disorder	Enrichment	MRE11, RAD50	3.98
46	Myeloma, multiple	Enrichment	ATM, BARD1, BRCA2, LIG4, TP53	3.73
47	Primary ovarian insufficiency	Enrichment	CHEK2, ERCC1, FANCA, NBN, POLG	3.62
48	Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations	Enrichment	ATRIP, TREX1	3.57
49	Chilblain lupus 1	Enrichment	ATRIP, TREX1	3.57
50	Uv-sensitive syndrome	Enrichment	ERCC6, ERCC8	3.57
51	Chilblain lupus	Enrichment	ATRIP, TREX1	3.57
52	Polymerase proofreading-related polyposis	Enrichment	POLD1, POLE	3.57
53	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A, CDKN1B	3.51
54	Lynch syndrome	Enrichment	CHEK2, MSH2, MSH6	3.45
55	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	Enrichment	MRE11, PNKP	3.27
56	Mismatch repair cancer syndrome 1	Enrichment	MSH2, MSH6	3.27
57	Polyposis syndrome, hereditary mixed, 1	Enrichment	BRCA1, BRCA2	3.27
58	Cholangiocarcinoma	Enrichment	BRCA1, BRCA2	3.27
59	Aicardi-goutieres syndrome 1	Enrichment	ATRIP, TREX1	3.27
60	Lynch syndrome 4	Enrichment	MSH2, MSH6	3.27
61	Thrombotic microangiopathy	Enrichment	ATRIP, TREX1	3.27
62	Leukemia, chronic lymphocytic	Enrichment	ATM, TP53	3.27
63	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	Enrichment	ATRIP, TREX1	3.06
64	Breast-ovarian cancer, familial 2	Enrichment	BRCA1, BRCA2	3.06
65	Glioblastoma	Enrichment	ATM, MSH2	3.06
66	Vascular dementia	Enrichment	ATRIP, TREX1	3.06
67	Clear cell renal cell carcinoma	Enrichment	ATM, OGG1	2.88
68	Isolated growth hormone deficiency, type ia	Enrichment	BRCA2, XRCC4	2.62
69	Trichothiodystrophy	Enrichment	ERCC2, ERCC3	2.51
70	Mitochondrial neurogastrointestinal encephalomyopathy	Enrichment	LIG3, POLG	2.51
71	Myocardial infarction	Enrichment	ESR1, PSMA6	2.48
72	Lung cancer	Enrichment	BRCA1, CHEK2, ERCC6	2.47
73	Seckel syndrome 1	Enrichment	ATR	2.45
74	Accelerated tumor formation	Enrichment	MDM2	2.45
75	Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	Enrichment	PSMB1	2.45
76	Lessel-kubisch syndrome	Enrichment	MDM2	2.45
77	Bone marrow failure syndrome 5	Enrichment	TP53	2.45
78	Papilloma of choroid plexus	Enrichment	TP53	2.45
79	Basal cell carcinoma 7	Enrichment	TP53	2.45
80	Anaplastic thyroid carcinoma	Enrichment	TP53	2.45
81	Tumor predisposition syndrome 4	Enrichment	CHEK2	2.45
82	Deafness, cataract, impaired intellectual development, and polyneuropathy	Enrichment	PSMC3	2.45
83	Cutaneous telangiectasia and cancer syndrome, familial	Enrichment	ATR	2.45
84	Proteasome-associated autoinflammatory syndrome 6	Enrichment	PSMB9	2.45
85	Endometrial serous adenocarcinoma	Enrichment	ATM	2.45
86	Ductal carcinoma in situ	Enrichment	TP53	2.45
87	Developmental and epileptic encephalopathy 56	Enrichment	YWHAG	2.45
88	Leiomyosarcoma	Enrichment	CHEK2	2.45
89	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	2.45
90	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	2.45
91	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	2.45
92	Oocyte/zygote/embryo maturation arrest 21	Enrichment	CHEK1	2.45
93	B-cell non-hodgkin lymphoma	Enrichment	ATM	2.45
94	Choroid plexus cancer	Enrichment	TP53	2.45
95	Pleomorphic xanthoastrocytoma	Enrichment	TP53	2.45
96	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Enrichment	ATR	2.45
97	Distal 17p13.3 microdeletion syndrome	Enrichment	YWHAE	2.45
98	Omenn syndrome	Enrichment	LIG4, PSMB10	2.42
99	Aicardi-goutieres syndrome	Enrichment	ATRIP, TREX1	2.42
100	Familial colorectal cancer	Enrichment	MSH2, TP53	2.42
101	Melanoma, cutaneous malignant 3	Enrichment	CDK4	2.41
102	Ovarian dysgenesis 8	Enrichment	ESR2	2.41
103	Neuroendocrine tumor	Enrichment	CDKN1B	2.41
104	Trilateral retinoblastoma	Enrichment	RB1	2.41
105	Lung oat cell carcinoma	Enrichment	RB1	2.41
106	Palmoplantar keratoderma, punctate type ii	Enrichment	BRCA1	2.38
107	Infant-type hemispheric glioma	Enrichment	BRCA1	2.38
108	Ataxia-telangiectasia-like disorder 1	Enrichment	MRE11	2.38
109	Ataxia-telangiectasia-like disorder 2	Enrichment	PCNA	2.38
110	Primary peritoneal carcinoma	Enrichment	BRCA1	2.38
111	Premature menopause	Enrichment	ERCC1, NBN	2.18
112	Adrenocortical carcinoma, hereditary	Enrichment	TP53	2.15
113	Cervical cancer	Enrichment	TP53	2.15
114	Lymphoma, hodgkin, classic	Enrichment	TP53	2.15
115	Congenital heart defects, multiple types, 3	Enrichment	CHEK2	2.15
116	Proteasome-associated autoinflammatory syndrome 5	Enrichment	PSMB10	2.15
117	Immunodeficiency 121 with autoinflammation	Enrichment	PSMB10	2.15
118	Birk-aharoni syndrome	Enrichment	PSMC1	2.15
119	Cardiac valvular dysplasia, x-linked	Enrichment	ATM	2.15
120	Congenital fibrosarcoma	Enrichment	TP53	2.15
121	High grade glioma	Enrichment	ATM	2.15
122	Cervix carcinoma	Enrichment	TP53	2.15
123	Hodgkin's lymphoma	Enrichment	TP53	2.15
124	T-cell prolymphocytic leukemia	Enrichment	ATM	2.15
125	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	2.15
126	Seckel syndrome	Enrichment	ATR, ATRIP	2.12
127	Pituitary stalk interruption syndrome	Enrichment	FANCA, FANCG	2.12
128	Burkitt lymphoma	Enrichment	MYC	2.11
129	Chromosome 13q14 deletion syndrome	Enrichment	RB1	2.11
130	Multiple endocrine neoplasia, type iv	Enrichment	CDKN1B	2.11
131	Familial retinoblastoma	Enrichment	RB1	2.11
132	Fanconi anemia, complementation group s	Enrichment	BRCA1	2.08
133	Pancreatic cancer 4	Enrichment	BRCA1	2.08
134	Peritoneum cancer	Enrichment	BRCA1	2.08
135	Renal cell carcinoma, nonpapillary	Enrichment	ATM, OGG1	2.06
136	Wilms tumor 1	Enrichment	BRCA2, CHEK2	2.06
137	Cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and impaired intellectual development	Enrichment	POLE	2.02
138	Van esch-o'driscoll syndrome	Enrichment	POLA1	2.02
139	Cerebrooculofacioskeletal syndrome 4	Enrichment	ERCC1	2.02
140	Melanoma, uveal 1	Enrichment	MBD4	2.02
141	Xeroderma pigmentosum, complementation group b	Enrichment	ERCC3	2.02
142	Colorectal cancer 10	Enrichment	POLD1	2.02
143	Glioma susceptibility 3	Enrichment	BRCA2	2.02
144	Ataxia-oculomotor apraxia 4	Enrichment	PNKP	2.02
145	Mirror movements 2	Enrichment	RAD51	2.02
146	Fanconi anemia, complementation group g	Enrichment	FANCG	2.02
147	Colorectal cancer 12	Enrichment	POLE	2.02
148	Fanconi anemia, complementation group r	Enrichment	RAD51	2.02
149	Pigmentary disorder, reticulate, with systemic manifestations, x-linked	Enrichment	POLA1	2.02
150	Leukodystrophy, hypomyelinating, 27	Enrichment	POLR1A	2.02
151	Treacher collins syndrome 4	Enrichment	POLR1B	2.02
152	Immunodeficiency 120	Enrichment	POLD1	2.02
153	Xeroderma pigmentosum, complementation group d	Enrichment	ERCC2	2.02
154	Pancreatic cancer 2	Enrichment	BRCA2	2.02
155	Immunodeficiency 101	Enrichment	POLR3F	2.02
156	Leukodystrophy, hypomyelinating, 21	Enrichment	POLR3K	2.02
157	Trichothiodystrophy 2, photosensitive	Enrichment	ERCC3	2.02
158	Xeroderma pigmentosum group b	Enrichment	ERCC3	2.02
159	Xfe progeroid syndrome	Enrichment	ERCC4	2.02
160	Treacher collins syndrome 2	Enrichment	POLR1D	2.02
161	Cerebrooculofacioskeletal syndrome 2	Enrichment	ERCC2	2.02
162	Immunodeficiency 26 with or without neurologic abnormalities	Enrichment	PRKDC	2.02
163	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	Enrichment	POLD1	2.02
164	Familial adenomatous polyposis 3	Enrichment	NTHL1	2.02
165	Immunodeficiency 96	Enrichment	LIG1	2.02
166	Mismatch repair cancer syndrome 2	Enrichment	MSH2	2.02
167	Spinocerebellar ataxia, autosomal recessive 26	Enrichment	XRCC1	2.02
168	Rectal benign neoplasm	Enrichment	MSH2	2.02
169	Tumor predisposition syndrome 2	Enrichment	MBD4	2.02
170	Ascending colon cancer	Enrichment	MSH2	2.02
171	Ovarian cyst	Enrichment	MSH2	2.02
172	Childhood myocerebrohepatopathy spectrum	Enrichment	POLG	2.02
173	Xeroderma pigmentosum group d	Enrichment	ERCC2	2.02
174	Spinocerebellar ataxia with epilepsy	Enrichment	POLG	2.02
175	Recessive mitochondrial ataxia syndrome	Enrichment	POLG	2.02
176	Ataxia-telangiectasia	Enrichment	ATM	1.98
177	Polycythemia vera	Enrichment	ATM	1.98
178	Nasopharyngeal carcinoma	Enrichment	TP53	1.98
179	Miller-dieker lissencephaly syndrome	Enrichment	YWHAE	1.98
180	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	YWHAE	1.98
181	Koolen-de vries syndrome	Enrichment	ATM	1.98
182	Dedifferentiated liposarcoma	Enrichment	MDM2	1.98
183	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.98
184	Anaplastic astrocytoma	Enrichment	TP53	1.98
185	Squamous cell carcinoma	Enrichment	TP53	1.98
186	Well-differentiated liposarcoma	Enrichment	MDM2	1.98
187	Thyroid hemiagenesis	Enrichment	PSMD3	1.98
188	Retinoblastoma	Enrichment	RB1	1.93
189	Thyroid carcinoma, familial medullary	Enrichment	ESR2	1.93
190	Estrogen resistance	Enrichment	ESR1	1.93
191	Woolly hair, autosomal recessive 3	Enrichment	RB1	1.93
192	Hypotrichosis 8	Enrichment	RB1	1.93
193	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	1.93
194	Migraine without aura	Enrichment	ESR1	1.93
195	Nijmegen breakage syndrome	Enrichment	NBN	1.90
196	Intellectual developmental disorder, autosomal dominant 57	Enrichment	TLK2	1.90
197	Esophageal atresia/tracheoesophageal fistula	Enrichment	BRCA2, POLR2B	1.86
198	Small cell cancer of the lung	Enrichment	TP53	1.85
199	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	1.85
200	Mantle cell lymphoma	Enrichment	ATM	1.85
201	Lung sarcomatoid carcinoma	Enrichment	TP53	1.85
202	Embryonal rhabdomyosarcoma	Enrichment	TP53	1.85
203	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	YWHAZ	1.85
204	Pregnancy loss, recurrent 1	Enrichment	CCNB3	1.85
205	Hemoglobin c disease	Enrichment	CHEK2	1.85
206	Oculomotor apraxia	Enrichment	ATM	1.85
207	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	CHEK1	1.85
208	Arthrogryposis multiplex congenita 3, myogenic type	Enrichment	ESR1	1.81
209	Primary hyperparathyroidism	Enrichment	CDKN1B	1.81
210	Rhabdomyosarcoma 2	Enrichment	TP53	1.76
211	Lymphoma	Enrichment	TP53	1.76
212	Acute megakaryocytic leukemia	Enrichment	TP53	1.76
213	Endometrial stromal sarcoma	Enrichment	YWHAE	1.76
214	Muir-torre syndrome	Enrichment	MSH2	1.72
215	Treacher collins syndrome 3	Enrichment	POLR1C	1.72
216	Xeroderma pigmentosum, complementation group f	Enrichment	ERCC4	1.72
217	Xeroderma pigmentosum, complementation group c	Enrichment	XPC	1.72
218	Fanconi anemia, complementation group i	Enrichment	POLG	1.72
219	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	Enrichment	POLE	1.72
220	Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies	Enrichment	POLK	1.72
221	Dubowitz syndrome	Enrichment	LIG4	1.72
222	Charcot-marie-tooth disease, axonal, type 2b2	Enrichment	PNKP	1.72
223	Leukoencephalopathy, progressive, with ovarian failure	Enrichment	POLR1C	1.72
224	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1	Enrichment	POLG	1.72
225	Mitochondrial complex i deficiency, nuclear type 10	Enrichment	ERCC8	1.72
226	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	Enrichment	POLE	1.72
227	Fanconi anemia, complementation group q	Enrichment	ERCC4	1.72
228	Fanconi anemia, complementation group e	Enrichment	FANCE	1.72
229	Charcot-marie-tooth disease type 2b2	Enrichment	PNKP	1.72
230	Diffuse midline glioma, h3 k27m-mutant	Enrichment	BRCA2	1.72
231	Microcephaly, seizures, and developmental delay	Enrichment	PNKP	1.72
232	Xeroderma pigmentosum group f	Enrichment	ERCC4	1.72
233	Leukodystrophy, hypomyelinating, 11	Enrichment	POLR1C	1.72
234	Short stature, microcephaly, and endocrine dysfunction	Enrichment	XRCC4	1.72
235	Fanconi anemia, complementation group d1	Enrichment	BRCA2	1.72
236	Facial dysmorphism, immunodeficiency, livedo, and short stature	Enrichment	POLE	1.72
237	Acrofacial dysostosis, cincinnati type	Enrichment	POLR1A	1.72
238	Polg-related disorders	Enrichment	POLG	1.72
239	Autosomal recessive progressive external ophthalmoplegia	Enrichment	POLG	1.72
240	Mismatch repair cancer syndrome 3	Enrichment	MSH6	1.72
241	Xeroderma pigmentosum group c	Enrichment	XPC	1.72
242	Growth delay due to insulin-like growth factor type 1 deficiency	Enrichment	IGF1	1.72
243	Microcephalic primordial dwarfism-insulin resistance syndrome	Enrichment	XRCC4	1.72
244	Mitochondrial dna depletion syndrome 20	Enrichment	LIG3	1.72
245	Neuroendocrine tumor of pancreas	Enrichment	BRCA2	1.72
246	Von hippel-lindau syndrome	Enrichment	CCND1	1.71
247	Developmental dysplasia of the hip 1	Enrichment	PSMC3	1.68
248	Wilms tumor 5	Enrichment	CHEK2	1.68
249	Patent ductus arteriosus	Enrichment	PSMC3	1.68
250	Adrenocortical carcinoma	Enrichment	TP53	1.68
251	Breast adenocarcinoma	Enrichment	TP53	1.68
252	Kidney clear cell sarcoma	Enrichment	YWHAE	1.68
253	Esophageal cancer	Enrichment	TP53	1.61
254	Squamous cell carcinoma, head and neck	Enrichment	TP53	1.61
255	Renal cell carcinoma, papillary, 1	Enrichment	ATM	1.61
256	Essential thrombocythemia	Enrichment	TP53	1.61
257	Gallbladder cancer	Enrichment	TP53	1.61
258	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	TP53	1.61
259	Glioma susceptibility 1	Enrichment	TP53	1.55
260	Lymphoma, non-hodgkin, familial	Enrichment	TP53	1.55
261	Partington syndrome	Enrichment	POLA1	1.55
262	Trichothiodystrophy 1, photosensitive	Enrichment	ERCC2	1.55
263	De sanctis-cacchione syndrome	Enrichment	ERCC6	1.55
264	Xeroderma pigmentosum, complementation group g	Enrichment	ERCC5	1.55
265	Burn-mckeown syndrome	Enrichment	POLR1A	1.55
266	Uv-sensitive syndrome 1	Enrichment	ERCC6	1.55
267	Uv-sensitive syndrome 2	Enrichment	ERCC8	1.55
268	Tumor predisposition syndrome 1	Enrichment	BRCA2	1.55
269	Lynch syndrome 5	Enrichment	MSH6	1.55
270	Cerebrooculofacioskeletal syndrome 3	Enrichment	ERCC5	1.55
271	Familial adenomatous polyposis 4	Enrichment	MSH3	1.55
272	Fanconi anemia, complementation group f	Enrichment	FANCF	1.55
273	Premature ovarian failure 11	Enrichment	ERCC6	1.55
274	Cellular ependymoma	Enrichment	MSH2	1.55
275	Tanycytic ependymoma	Enrichment	MSH2	1.55
276	Papillary ependymoma	Enrichment	MSH2	1.55
277	Bap1 tumor predisposition syndrome	Enrichment	BRCA2	1.55
278	Familial chilblain lupus	Enrichment	TREX1	1.55
279	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	Enrichment	MSH6	1.55
280	Idiopathic camptocormia	Enrichment	POLG	1.55
281	Colon adenocarcinoma	Enrichment	MSH6	1.55
282	Xeroderma pigmentosum group g	Enrichment	ERCC5	1.55
283	Clear cell ependymoma	Enrichment	MSH2	1.55
284	Adult hepatocellular carcinoma	Enrichment	TP53	1.50
285	Primary hyperaldosteronism	Enrichment	TP53	1.50
286	Polymicrogyria	Enrichment	PSMC3	1.46
287	Melanoma	Enrichment	CHEK2	1.46
288	Mirror movements 1	Enrichment	RAD51	1.43
289	Hutchinson-gilford progeria syndrome	Enrichment	ERCC4	1.43
290	Gaucher disease, type i	Enrichment	MSH6	1.43
291	Deafness, autosomal recessive 1a	Enrichment	ERCC8	1.43
292	Chordoma	Enrichment	BRCA2	1.43
293	Erythrocytosis, familial, 2	Enrichment	FANCD2	1.43
294	Macular degeneration, age-related, 5	Enrichment	ERCC6	1.43
295	Developmental and epileptic encephalopathy 12	Enrichment	PNKP	1.43
296	Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	Enrichment	POLR2A	1.43
297	Generalized epilepsy	Enrichment	POLG	1.43
298	Craniopharyngioma	Enrichment	ERCC2	1.43
299	Gjb2-related autosomal recessive nonsyndromic hearing loss	Enrichment	ERCC8	1.43
300	Benign ependymoma	Enrichment	MSH2	1.43
301	Immune deficiency disease	Enrichment	ATM	1.42
302	Myelodysplastic syndrome	Enrichment	TP53	1.42
303	Specific learning disability	Enrichment	YWHAG	1.42
304	Aplastic anemia	Enrichment	NBN	1.38
305	Lip and oral cavity carcinoma	Enrichment	TP53	1.38
306	Migraine with or without aura 1	Enrichment	ESR1	1.38
307	Nk-cell enteropathy	Enrichment	CHEK2	1.35
308	Leukemia, acute lymphoblastic	Enrichment	NBN	1.34
309	Fanconi anemia, complementation group d2	Enrichment	FANCD2	1.33
310	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism	Enrichment	POLR1C	1.33
311	Insulin-like growth factor i	Enrichment	IGF1	1.33
312	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	Enrichment	POLG	1.33
313	Autosomal recessive cerebellar ataxia	Enrichment	ERCC4	1.33
314	Polyneuropathy	Enrichment	ERCC5	1.33
315	Lung cancer susceptibility 3	Enrichment	TP53	1.31
316	Systemic lupus erythematosus	Enrichment	ATRIP, TREX1	1.28
317	Leukemia, acute myeloid	Enrichment	FANCD2, TP53	1.26
318	Kabuki syndrome 1	Enrichment	BRCA2	1.25
319	Machado-joseph disease	Enrichment	POLG	1.25
320	Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1	Enrichment	POLG	1.25
321	Mitochondrial dna depletion syndrome 1	Enrichment	POLG	1.25
322	Mitochondrial dna depletion syndrome	Enrichment	POLG	1.25
323	Periventricular nodular heterotopia	Enrichment	BRCA1	1.24
324	Patent foramen ovale	Enrichment	PSMC3	1.21
325	Melanoma, cutaneous malignant 1	Enrichment	CDK4	1.19
326	Polycystic liver disease	Enrichment	CDC25A	1.19
327	Autosomal dominant polycystic liver disease	Enrichment	CDC25A	1.19
328	Mitochondrial dna depletion syndrome 4a	Enrichment	POLG	1.19
329	Hereditary clear cell renal cell carcinoma	Enrichment	OGG1	1.19
330	Microcephaly	Enrichment	PSMC3, YWHAG	1.15
331	Fanconi anemia, complementation group c	Enrichment	FANCC	1.13
332	Mitochondrial dna depletion syndrome 4b	Enrichment	POLG	1.13
333	Lennox-gastaut syndrome	Enrichment	MAPK10	1.13
334	Diamond-blackfan anemia 1	Enrichment	TP53	1.11
335	Congenital nervous system abnormality	Enrichment	ERCC8, PNKP, POLG	1.10
336	Nervous system disease	Enrichment	ERCC8, PNKP, POLG	1.10
337	Autoinflammatory disease	Enrichment	PSMB8	1.09
338	Tracheoesophageal fistula with or without esophageal atresia	Enrichment	BRCA2	1.08
339	Inflammatory bowel disease 1	Enrichment	ERCC2	1.08
340	Polydactyly	Enrichment	BRCA2	1.08
341	Leukemia, acute lymphoblastic 3	Enrichment	ERCC4	1.08
342	Autosomal dominant cerebellar ataxia	Enrichment	POLG	1.08
343	Hypotrichosis simplex	Enrichment	ERCC2	1.08
344	Aicardi-goutiares syndrome	Enrichment	TREX1	1.08
345	Lissencephaly	Enrichment	NBN	1.07
346	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC	1.06
347	Isolated tracheo-esophageal fistula	Enrichment	BRCA2	1.04
348	Pectus excavatum	Enrichment	ERCC5	1.00
349	Combined immunodeficiency	Enrichment	POLD1	1.00
350	Combined t cell and b cell immunodeficiency	Enrichment	POLD1	1.00
351	Combined t and b cell immunodeficiency	Enrichment	POLD1	1.00
352	Diamond-blackfan anemia	Enrichment	TP53	0.92
353	Medulloblastoma	Enrichment	BRCA2	0.90
354	Corpus callosum, agenesis of	Enrichment	ERCC2	0.87
355	Isolated corpus callosum agenesis	Enrichment	ERCC2	0.87
356	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	ERCC2	0.87
357	Isolated congenital microcephaly	Enrichment	PNKP	0.85
358	Early infantile developmental and epileptic encephalopathy	Enrichment	PNKP	0.80
359	Autosomal dominant non-syndromic intellectual disability	Enrichment	YWHAZ	0.79
360	Leukodystrophy	Enrichment	ERCC2	0.76
361	Undetermined early-onset epileptic encephalopathy	Enrichment	YWHAG	0.74
362	Severe combined immunodeficiency	Enrichment	LIG4	0.57
363	Mitochondrial complex i deficiency, nuclear type 1	Enrichment	ERCC8	0.52
364	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	Enrichment	POLG	0.52
365	Cerebral palsy	Enrichment	BRCA2	0.51
366	Hereditary spastic paraplegia	Enrichment	POLG	0.48
367	Hypertrophic cardiomyopathy	Enrichment	POLG	0.47
368	Body mass index quantitative trait locus 11	Enrichment	POLG	0.42
369	Spastic ataxia	Enrichment	ERCC4	0.40
370	Leigh syndrome, nuclear	Enrichment	POLG	0.32
371	Mitochondrial disease	Enrichment	POLG	0.25
372	Hereditary retinal dystrophy	Enrichment	ATRIP, TREX1	0.12
373	Fundus dystrophy	Enrichment	ATRIP, TREX1	0.12

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

Chks in Checkpoint Regulation

Pathway Network for Chks in Checkpoint Regulation

Pathway network for the Chks in Checkpoint Regulation SuperPath

Member Pathways for Chks in Checkpoint Regulation

Pathways in the Chks in Checkpoint Regulation SuperPath

Gene overlap in member pathways for Chks in Checkpoint Regulation SuperPath

Associated Genes for Chks in Checkpoint Regulation

Associated Disorders for Chks in Checkpoint Regulation

Disorders associated with Chks in Checkpoint Regulation SuperPath

STRING Interaction Network for Chks in Checkpoint Regulation

Sources for Chks in Checkpoint Regulation