Integrated breast cancer pathway

No Pathway Network information available for Integrated breast cancer pathway

Pathways in the Integrated breast cancer pathway SuperPath

#	Name	Source	Genes
1	Integrated breast cancer pathway	WikiPathways	ABL1 AHR AKT1 ALKBH1 ANXA1 APOBEC3G AR ARAF ATF1 ATM ATR AURKA BACH1 BAD BAK1 BARD1 BAX BCL2 BID BLM BMPR1A BMPR2 BRAF BRCA1 BRCA2 CASP3 CASP8 CASP9 CCNB1IP1 CCND1 CDC25A CDC25B CDC42 CDH1 CDK2 CDK4 CDK7 CERK CHEK1 CHEK2 CHUK CREB1 CSNK1D CTNNB1 CYP19A1 DAG1 DCAKD DHTKD1 E2F1 EDAR EGFR EP300 ERAL1 ESR1 FADD FER FILIP1 FOSL2 FOXO1 GADD45A GDI1 GRN GSK3A HDAC1 HIPK2 HMGCR IMPA1 IRS1 ITPKC JAK1 JAKMIP1 JUN KRAS LGALS13 MAP3K13 MAP3K7CL MAPK1 MAX MDM2 MMP1 MRE11 MSH2 MSH6 MTOR MYC MYCBP2 MYT1 NAB1 NCOA3 NF1 NFKB1 NOXA1 NUP85 PAK1 PHB1 PIAS1 PIGR PIK3R2 PKIA PLK1 PLK3 PML PPP4R3A PPP4R3B PTEN RAC1 RAD50 RAD51 RAD54L RALA RALGAPA1 RAP1A RASGEF1A RASGRP3 RB1 RHEB RHO RPP38 RRAS SELENOK SIRT1 SMAD1 SMAD2 SMAD4 SMAD6 SMAD7 SMARCA4 SP1 STAT1 STK11 TAB1 TFPI TGFBR1 TGFBR2 TP53 TPR TRADD TSC1 TSC2 UBE2F USP15 USP16 USP21 USP38 VEGFA WEE1 XRCC3 ZMIZ1 ZMYND8 ZNF655 (see all 150) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	ZMIZ1	Zinc Finger MIZ-Type Containing 1	Protein Coding	1
2	PKIA	CAMP-Dependent Protein Kinase Inhibitor Alpha	Protein Coding	1
3	CCNB1IP1	Cyclin B1 Interacting Protein 1	Protein Coding	1
4	JAKMIP1	Janus Kinase And Microtubule Interacting Protein 1	Protein Coding	1
5	FOSL2	FOS Like 2, AP-1 Transcription Factor Subunit	Protein Coding	1
6	LGALS13	Galectin 13	Protein Coding	1
7	SELENOK	Selenoprotein K	Protein Coding	1
8	FILIP1	Filamin A Interacting Protein 1	Protein Coding	1
9	ZNF655	Zinc Finger Protein 655	Protein Coding	1
10	NAB1	NGFI-A Binding Protein 1	Protein Coding	1
11	APOBEC3G	Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 3G	Protein Coding	1
12	BMPR2	Bone Morphogenetic Protein Receptor Type 2	Protein Coding	1
13	MYT1	Myelin Transcription Factor 1	Protein Coding	1
14	FER	FER Tyrosine Kinase	Protein Coding	1
15	MAP3K13	Mitogen-Activated Protein Kinase Kinase Kinase 13	Protein Coding	1
16	ZMYND8	Zinc Finger MYND-Type Containing 8	Protein Coding	1
17	PIGR	Polymeric Immunoglobulin Receptor	Protein Coding	1
18	USP16	Ubiquitin Specific Peptidase 16	Protein Coding	1
19	ALKBH1	AlkB Homolog 1, Histone H2A Dioxygenase	Protein Coding	1
20	MAP3K7CL	MAP3K7 C-Terminal Like	Protein Coding	1
21	BACH1	BACH Transcriptional Regulator 1	Protein Coding	1
22	EDAR	Ectodysplasin A Receptor	Protein Coding	1
23	SMAD6	SMAD Family Member 6	Protein Coding	1
24	SMAD1	SMAD Family Member 1	Protein Coding	1
25	GSK3A	Glycogen Synthase Kinase 3 Alpha	Protein Coding	1
26	UBE2F	Ubiquitin Conjugating Enzyme E2 F (Putative)	Protein Coding	1
27	USP21	Ubiquitin Specific Peptidase 21	Protein Coding	1
28	USP15	Ubiquitin Specific Peptidase 15	Protein Coding	1
29	HIPK2	Homeodomain Interacting Protein Kinase 2	Protein Coding	1
30	CDC25B	Cell Division Cycle 25B	Protein Coding	1
31	MAX	MYC Associated Transcriptional Regulator X	Protein Coding	1
32	TAB1	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 1	Protein Coding	1
33	NOXA1	NADPH Oxidase Activator 1	Protein Coding	1
34	AR	Androgen Receptor	Protein Coding	1
35	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	1
36	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	1
37	PML	PML Nuclear Body Scaffold	Protein Coding	1
38	NF1	Neurofibromin 1	Protein Coding	1
39	CCND1	Cyclin D1	Protein Coding	1
40	SMAD7	SMAD Family Member 7	Protein Coding	1
41	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	1
42	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	1
43	ATF1	Activating Transcription Factor 1	Protein Coding	1
44	CHEK2	Checkpoint Kinase 2	Protein Coding	1
45	BCL2	BCL2 Apoptosis Regulator	Protein Coding	1
46	BID	BH3 Interacting Domain Death Agonist	Protein Coding	1
47	TRADD	TNFRSF1A Associated Via Death Domain	Protein Coding	1
48	DCAKD	Dephospho-CoA Kinase Domain Containing	Protein Coding	1
49	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
50	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
51	RAD50	RAD50 Double Strand Break Repair Protein	Protein Coding	1
52	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	1
53	MRE11	MRE11 Double Strand Break Repair Nuclease	Protein Coding	1
54	RAD51	RAD51 Recombinase	Protein Coding	1
55	BLM	BLM RecQ Like Helicase	Protein Coding	1
56	WEE1	WEE1 G2 Checkpoint Kinase	Protein Coding	1
57	CDK2	Cyclin Dependent Kinase 2	Protein Coding	1
58	MMP1	Matrix Metallopeptidase 1	Protein Coding	1
59	CTNNB1	Catenin Beta 1	Protein Coding	1
60	RB1	RB Transcriptional Corepressor 1	Protein Coding	1
61	SMARCA4	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit ATPase 4	Protein Coding	1
62	SIRT1	Sirtuin 1	Protein Coding	1
63	CDK4	Cyclin Dependent Kinase 4	Protein Coding	1
64	SMAD4	SMAD Family Member 4	Protein Coding	1
65	SMAD2	SMAD Family Member 2	Protein Coding	1
66	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	1
67	RRAS	RAS Related	Protein Coding	1
68	PLK1	Polo Like Kinase 1	Protein Coding	1
69	RAC1	Rac Family Small GTPase 1	Protein Coding	1
70	RALA	RAS Like Proto-Oncogene A	Protein Coding	1
71	TPR	Translocated Promoter Region, Nuclear Basket Protein	Protein Coding	1
72	BAD	BCL2 Associated Agonist Of Cell Death	Protein Coding	1
73	MDM2	MDM2 Proto-Oncogene	Protein Coding	1
74	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
75	PIAS1	Protein Inhibitor Of Activated STAT 1	Protein Coding	1
76	BAK1	BCL2 Antagonist/Killer 1	Protein Coding	1
77	ATR	ATR Checkpoint Kinase	Protein Coding	1
78	CHEK1	Checkpoint Kinase 1	Protein Coding	1
79	ARAF	A-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
80	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
81	ATM	ATM Serine/Threonine Kinase	Protein Coding	1
82	TP53	Tumor Protein P53	Protein Coding	1
83	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
84	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	1
85	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	1
86	JAK1	Janus Kinase 1	Protein Coding	1
87	EGFR	Epidermal Growth Factor Receptor	Protein Coding	1
88	MSH2	MutS Homolog 2	Protein Coding	1
89	MSH6	MutS Homolog 6	Protein Coding	1
90	RAP1A	RAP1A, Member Of RAS Oncogene Family	Protein Coding	1
91	CDH1	Cadherin 1	Protein Coding	1
92	CDC42	Cell Division Cycle 42	Protein Coding	1
93	FADD	Fas Associated Via Death Domain	Protein Coding	1
94	RAD54L	RAD54 Like	Protein Coding	1
95	CASP9	Caspase 9	Protein Coding	1
96	CASP8	Caspase 8	Protein Coding	1
97	CASP3	Caspase 3	Protein Coding	1
98	NCOA3	Nuclear Receptor Coactivator 3	Protein Coding	1
99	ITPKC	Inositol-Trisphosphate 3-Kinase C	Protein Coding	1
100	XRCC3	X-Ray Repair Cross Complementing 3	Protein Coding	1
101	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	1
102	TSC2	TSC Complex Subunit 2	Protein Coding	1
103	TSC1	TSC Complex Subunit 1	Protein Coding	1
104	TFPI	Tissue Factor Pathway Inhibitor	Protein Coding	1
105	STK11	Serine/Threonine Kinase 11	Protein Coding	1
106	AURKA	Aurora Kinase A	Protein Coding	1
107	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	1
108	SP1	Sp1 Transcription Factor	Protein Coding	1
109	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	1
110	CERK	Ceramide Kinase	Protein Coding	1
111	RHO	Rhodopsin	Protein Coding	1
112	BAX	BCL2 Associated X, Apoptosis Regulator	Protein Coding	1
113	BARD1	BRCA1 Associated RING Domain 1	Protein Coding	1
114	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
115	DHTKD1	Dehydrogenase E1 And Transketolase Domain Containing 1	Protein Coding	1
116	PHB1	Prohibitin 1	Protein Coding	1
117	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1
118	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
119	IRS1	Insulin Receptor Substrate 1	Protein Coding	1
120	IMPA1	Inositol Monophosphatase 1	Protein Coding	1
121	HMGCR	3-Hydroxy-3-Methylglutaryl-CoA Reductase	Protein Coding	1
122	HDAC1	Histone Deacetylase 1	Protein Coding	1
123	ANXA1	Annexin A1	Protein Coding	1
124	GRN	Granulin Precursor	Protein Coding	1
125	GDI1	GDP Dissociation Inhibitor 1	Protein Coding	1
126	RASGRP3	RAS Guanyl Releasing Protein 3	Protein Coding	1
127	ABL1	ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase	Protein Coding	1
128	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
129	FOXO1	Forkhead Box O1	Protein Coding	1
130	ESR1	Estrogen Receptor 1	Protein Coding	1
131	EP300	EP300 Lysine Acetyltransferase	Protein Coding	1
132	AHR	Aryl Hydrocarbon Receptor	Protein Coding	1
133	E2F1	E2F Transcription Factor 1	Protein Coding	1
134	GADD45A	Growth Arrest And DNA Damage Inducible Alpha	Protein Coding	1
135	DAG1	Dystroglycan 1	Protein Coding	1
136	CYP19A1	Cytochrome P450 Family 19 Subfamily A Member 1	Protein Coding	1
137	CSNK1D	Casein Kinase 1 Delta	Protein Coding	1
138	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
139	RPP38	Ribonuclease P/MRP Subunit P38	Protein Coding	1
140	USP38	Ubiquitin Specific Peptidase 38	Protein Coding	1
141	PLK3	Polo Like Kinase 3	Protein Coding	1
142	CDK7	Cyclin Dependent Kinase 7	Protein Coding	1
143	NUP85	Nucleoporin 85	Protein Coding	1
144	PPP4R3B	Protein Phosphatase 4 Regulatory Subunit 3B	Protein Coding	1
145	PPP4R3A	Protein Phosphatase 4 Regulatory Subunit 3A	Protein Coding	1
146	CDC25A	Cell Division Cycle 25A	Protein Coding	1
147	ERAL1	Era Like 12S Mitochondrial RRNA Chaperone 1	Protein Coding	1
148	RALGAPA1	Ral GTPase Activating Protein Catalytic Subunit Alpha 1	Protein Coding	1
149	MYCBP2	MYC Binding Protein 2	Protein Coding	1
150	RASGEF1A	RasGEF Domain Family Member 1A	Protein Coding	1

Disorders associated with Integrated breast cancer pathway SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Bladder cancer	Enrichment	ATM, BRCA1, BRCA2, CTNNB1, EGFR, KRAS, NF1, PTEN, RB1, TP53, TSC1	16.00
2	Breast cancer	Enrichment	AKT1, ATM, BARD1, BLM, BRCA1, BRCA2, CASP8, CDH1, CHEK2, ESR1, JUN, KRAS, MRE11, MSH2, MSH6, PHB1, PTEN, RAD50, RAD51, RAD54L, TP53, XRCC3	16.00
3	Ovarian cancer	Enrichment	AKT1, AR, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, CTNNB1, EGFR, KRAS, MRE11, MSH2, MSH6, PTEN, RAD50, RB1, TP53, TSC2	16.00
4	Hereditary breast carcinoma	Enrichment	AKT1, ATM, BARD1, BLM, BRCA1, BRCA2, CDH1, CHEK2, ESR1, KRAS, MSH2, MSH6, PTEN, RAD50, RAD51, RAD54L, TP53	16.00
5	Inherited cancer-predisposing syndrome	Enrichment	ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, CDH1, CDK4, CHEK2, EGFR, MAX, MRE11, MSH2, MSH6, NF1, PTEN, RAD50, RB1, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2	16.00
6	Hereditary breast ovarian cancer syndrome	Enrichment	ATM, BARD1, BLM, BRCA1, BRCA2, CHEK2, KRAS, MRE11, MSH2, MSH6, NF1, PTEN, RAD50, RAD51, TP53	11.61
7	Prostate cancer	Enrichment	AR, ATM, BRCA1, BRCA2, CDH1, CHEK2, MSH6, PTEN, TP53	11.18
8	Endometrial cancer	Enrichment	ATM, BARD1, BLM, BRCA1, BRCA2, CDH1, CHEK2, MSH2, MSH6, PTEN	11.17
9	Gastric cancer	Enrichment	ATM, BARD1, BRCA1, BRCA2, CDH1, CDK4, CHEK2, KRAS, MSH2, MSH6, NF1, PTEN, SMAD4, STK11, TP53	11.09
10	Colorectal cancer	Enrichment	AKT1, ATM, AURKA, BAX, BLM, BRAF, BRCA1, BRCA2, CCND1, CDH1, CHEK2, CTNNB1, EP300, MSH2, MSH6, SMAD4, TP53	11.08
11	Uterine corpus cancer	Enrichment	ATM, BRCA1, BRCA2, CHEK2, MSH2, MSH6, PTEN	10.98
12	Pancreatic cancer	Enrichment	ATM, BRCA1, BRCA2, CHEK2, KRAS, SMAD4, STK11, TP53	9.77
13	Rhabdomyosarcoma	Enrichment	BRCA1, BRCA2, MSH2, MSH6, NF1, PTEN, TP53	9.72
14	Myeloma, multiple	Enrichment	ATM, AURKA, BARD1, BRAF, BRCA2, CCND1, KRAS, NF1, PIK3R2, TP53	9.32
15	Lip and oral cavity carcinoma	Enrichment	ABL1, BRAF, EGFR, RB1, STK11, TP53	8.84
16	Gallbladder cancer	Enrichment	BRAF, CTNNB1, KRAS, SMAD4, TP53	8.49
17	Focal cortical dysplasia, type ii	Enrichment	MTOR, RHEB, TSC1, TSC2	7.84
18	Isolated focal cortical dysplasia type ii	Enrichment	MTOR, RHEB, TSC1, TSC2	7.84
19	Adult hepatocellular carcinoma	Enrichment	CASP8, CTNNB1, TP53, TSC1, TSC2	7.73
20	Diffuse large b-cell lymphoma	Enrichment	BRAF, BRCA2, CHEK2, FOXO1, PTEN, TP53	7.40
21	Breast-ovarian cancer, familial 1	Enrichment	ATM, BRCA1, BRCA2, CHEK2, MSH2	6.73
22	Lung cancer susceptibility 3	Enrichment	BRAF, EGFR, KRAS, RB1, TP53	6.54
23	Lynch syndrome	Enrichment	CHEK2, KRAS, MSH2, MSH6, TGFBR2	6.37
24	Lung cancer	Enrichment	BRAF, BRCA1, CASP8, CHEK2, EGFR, KRAS	5.93
25	Osteogenic sarcoma	Enrichment	CHEK2, RB1, TP53	5.88
26	Loeys-dietz syndrome 1	Enrichment	SMAD2, TGFBR1, TGFBR2	5.88
27	Bone osteosarcoma	Enrichment	CHEK2, RB1, TP53	5.88
28	Hepatoblastoma	Enrichment	BARD1, BRCA2, CTNNB1, MSH2, TP53	5.56
29	Lynch syndrome 1	Enrichment	ATM, CHEK2, MSH2, MSH6	5.54
30	Melanoma	Enrichment	BRAF, CHEK2, PTEN, STK11	5.54
31	Familial colorectal cancer type x	Enrichment	ATM, BMPR1A, BRCA2, CHEK2	5.35
32	Lynch syndrome 4	Enrichment	MSH2, MSH6, RB1	5.28
33	Rhabdomyosarcoma 2	Enrichment	FOXO1, NF1, TP53	4.88
34	Hemimegalencephaly	Enrichment	MTOR, PTEN, RHEB	4.88
35	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	BMPR1A, SMAD4, STK11	4.88
36	Gliosarcoma	Enrichment	ATM, EGFR, MSH2, TP53	4.63
37	Li-fraumeni syndrome	Enrichment	CHEK2, MDM2, TP53	4.59
38	Breast adenocarcinoma	Enrichment	AKT1, KRAS, TP53	4.59
39	Giant cell glioblastoma	Enrichment	ATM, EGFR, MSH2, TP53	4.51
40	Squamous cell carcinoma, head and neck	Enrichment	EGFR, PTEN, TP53	4.35
41	Lymphoma, non-hodgkin, familial	Enrichment	BRAF, RAD54L, TP53	4.15
42	Hepatocellular carcinoma	Enrichment	CASP8, CTNNB1, RAD50, TP53	4.05
43	Loeys-dietz syndrome	Enrichment	SMAD2, TGFBR1, TGFBR2	3.97
44	Colonic benign neoplasm	Enrichment	ATM, CHEK2, MRE11	3.97
45	Loeys-dietz syndrome 2	Enrichment	TGFBR1, TGFBR2	3.92
46	Lymphangioleiomyomatosis	Enrichment	TSC1, TSC2	3.92
47	Li-fraumeni syndrome 1	Enrichment	CHEK2, TP53	3.92
48	Sarcoma	Enrichment	CHEK2, TP53	3.92
49	Inflammatory breast carcinoma	Enrichment	BRCA1, BRCA2	3.92
50	Bilateral breast cancer	Enrichment	BRCA1, BRCA2	3.92
51	Juvenile polyposis of infancy	Enrichment	BMPR1A, PTEN	3.92
52	Pleomorphic rhabdomyosarcoma	Enrichment	NF1, TP53	3.92
53	Leukemia, chronic lymphocytic	Enrichment	ATM, CCND1, TP53	3.82
54	Lung non-small cell carcinoma	Enrichment	BRAF, EGFR, KRAS	3.69
55	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NF1, RRAS	3.57
56	Ataxia-telangiectasia	Enrichment	ATM, BRAF	3.44
57	Juvenile polyposis syndrome	Enrichment	BMPR1A, SMAD4	3.44
58	Tuberous sclerosis 1	Enrichment	TSC1, TSC2	3.44
59	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2, MYC	3.44
60	Dedifferentiated liposarcoma	Enrichment	CDK4, MDM2	3.44
61	Hamartoma	Enrichment	TSC1, TSC2	3.44
62	Squamous cell carcinoma	Enrichment	RB1, TP53	3.44
63	T-cell acute lymphoblastic leukemia	Enrichment	ABL1, BAX	3.44
64	Adenocarcinoma	Enrichment	ATM, TP53	3.44
65	Colon adenocarcinoma	Enrichment	MSH6, RAD54L	3.44
66	Melanoma of soft tissue	Enrichment	ATF1, CREB1	3.44
67	Well-differentiated liposarcoma	Enrichment	CDK4, MDM2	3.44
68	Wilms tumor 1	Enrichment	BRAF, BRCA2, CHEK2	3.26
69	Cardiofaciocutaneous syndrome 1	Enrichment	BRAF, KRAS	3.14
70	Diffuse gastric and lobular breast cancer syndrome	Enrichment	CDH1, KRAS	3.14
71	Small cell cancer of the lung	Enrichment	RB1, TP53	3.14
72	Thyroid cancer, nonmedullary, 1	Enrichment	BRAF, TP53	3.14
73	Mismatch repair cancer syndrome 1	Enrichment	MSH2, MSH6	3.14
74	Polyposis syndrome, hereditary mixed, 1	Enrichment	BRCA1, BRCA2	3.14
75	Cholangiocarcinoma	Enrichment	BRCA1, BRCA2	3.14
76	Mantle cell lymphoma	Enrichment	ATM, CCND1	3.14
77	Cardiofaciocutaneous syndrome	Enrichment	BRAF, KRAS	3.14
78	Lung sarcomatoid carcinoma	Enrichment	KRAS, TP53	3.14
79	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	ABL1, KRAS	3.14
80	Nijmegen breakage syndrome-like disorder	Enrichment	MRE11, RAD50	3.14
81	Tuberous sclerosis	Enrichment	TSC1, TSC2	3.14
82	Embryonal rhabdomyosarcoma	Enrichment	NF1, TP53	3.14
83	Craniopharyngioma	Enrichment	BRAF, CTNNB1	3.14
84	Pilocytic astrocytoma	Enrichment	KRAS, NF1	3.14
85	Melanoma, cutaneous malignant 1	Enrichment	BRAF, CDK4, STK11	3.09
86	Arteriovenous malformations of the brain	Enrichment	BRAF, EGFR, KRAS	2.95
87	Breast-ovarian cancer, familial 2	Enrichment	BRCA1, BRCA2	2.93
88	Glioblastoma	Enrichment	ATM, MSH2	2.93
89	Acute megakaryocytic leukemia	Enrichment	PTEN, TP53	2.93
90	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	SMAD2, SMAD4, TGFBR1, TGFBR2	2.86
91	Cowden syndrome 1	Enrichment	EGFR, PTEN	2.75
92	Wilms tumor 5	Enrichment	BRAF, CHEK2	2.75
93	Adrenocortical carcinoma	Enrichment	CTNNB1, TP53	2.75
94	Lung squamous cell carcinoma	Enrichment	EGFR, KRAS	2.75
95	Noonan syndrome 1	Enrichment	BRAF, KRAS, RRAS	2.70
96	Esophageal cancer	Enrichment	TGFBR2, TP53	2.61
97	Thyroid cancer, nonmedullary, 2	Enrichment	BRAF, PTEN	2.61
98	Leukemia, chronic myeloid	Enrichment	ABL1, KRAS	2.61
99	Renal cell carcinoma, papillary, 1	Enrichment	ATM, MTOR	2.61
100	Pilomyxoid astrocytoma	Enrichment	BRAF, KRAS	2.61
101	Follicular thyroid carcinoma	Enrichment	BRAF, PTEN	2.61
102	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	ABL1, TP53	2.61
103	Rasopathy	Enrichment	BRAF, KRAS, NF1	2.54
104	Differentiated thyroid carcinoma	Enrichment	BRAF, KRAS, TPR	2.41
105	Polydactyly	Enrichment	BRCA2, SMAD6	2.38
106	Primary hyperaldosteronism	Enrichment	BRAF, TP53	2.38
107	Ventricular septal defect	Enrichment	BRAF, SMARCA4	2.38
108	Cowden syndrome	Enrichment	AKT1, PTEN	2.38
109	Marfan syndrome	Enrichment	TGFBR1, TGFBR2	2.29
110	Familial colorectal cancer	Enrichment	MSH2, TP53	2.29
111	Fanconi anemia, complementation group a	Enrichment	BRCA1, BRCA2, RAD51	2.17
112	Meningioma	Enrichment	AKT1, PTEN	2.13
113	Medulloblastoma	Enrichment	BRCA2, CTNNB1	1.99
114	Pheochromocytoma	Enrichment	MAX, NF1	1.99
115	Seckel syndrome	Enrichment	ATR, NUP85	1.99
116	Palmoplantar keratoderma, punctate type ii	Enrichment	BRCA1	1.96
117	Proteus syndrome	Enrichment	AKT1	1.96
118	Bloom syndrome	Enrichment	BLM	1.96
119	Prostate cancer, hereditary, x-linked 3	Enrichment	AR	1.96
120	Oculoectodermal syndrome	Enrichment	KRAS	1.96
121	Vacterl association with hydrocephalus	Enrichment	PTEN	1.96
122	Pallister-killian syndrome	Enrichment	ARAF	1.96
123	Androgen insensitivity, partial	Enrichment	AR	1.96
124	Night blindness, congenital stationary, autosomal dominant 1	Enrichment	RHO	1.96
125	Caspase 8 deficiency	Enrichment	CASP8	1.96
126	Melanoma, cutaneous malignant 3	Enrichment	CDK4	1.96
127	Polyposis syndrome, hereditary mixed, 2	Enrichment	BMPR1A	1.96
128	Noonan syndrome 7	Enrichment	BRAF	1.96
129	Leopard syndrome 3	Enrichment	BRAF	1.96
130	Glioma susceptibility 3	Enrichment	BRCA2	1.96
131	Multiple self-healing squamous epithelioma	Enrichment	TGFBR1	1.96
132	Seckel syndrome 1	Enrichment	ATR	1.96
133	Muscular dystrophy-dystroglycanopathy , type a, 9	Enrichment	DAG1	1.96
134	Mirror movements 2	Enrichment	RAD51	1.96
135	Alpha-aminoadipic and alpha-ketoadipic aciduria	Enrichment	DHTKD1	1.96
136	Advanced sleep phase syndrome, familial, 2	Enrichment	CSNK1D	1.96
137	Fetal encasement syndrome	Enrichment	CHUK	1.96
138	Accelerated tumor formation	Enrichment	MDM2	1.96
139	Radioulnar synostosis, nonsyndromic	Enrichment	SMAD6	1.96
140	Retinitis pigmentosa 85	Enrichment	AHR	1.96
141	Hiatt-neu-cooper neurodevelopmental syndrome	Enrichment	RALA	1.96
142	Noonan syndrome 13	Enrichment	MAPK1	1.96
143	Fanconi anemia, complementation group r	Enrichment	RAD51	1.96
144	Lessel-kubisch syndrome	Enrichment	MDM2	1.96
145	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	1.96
146	Bone marrow failure syndrome 5	Enrichment	TP53	1.96
147	Intellectual developmental disorder, x-linked 41	Enrichment	GDI1	1.96
148	Papilloma of choroid plexus	Enrichment	TP53	1.96
149	Basal cell carcinoma 7	Enrichment	TP53	1.96
150	Foveal hypoplasia 3	Enrichment	AHR	1.96
151	Anaplastic thyroid carcinoma	Enrichment	TP53	1.96
152	Infant-type hemispheric glioma	Enrichment	BRCA1	1.96
153	Pancreatic cancer 2	Enrichment	BRCA2	1.96
154	Papillary tumor of the pineal region	Enrichment	PTEN	1.96
155	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	1.96
156	Tumor predisposition syndrome 4	Enrichment	CHEK2	1.96
157	Microvascular complications of diabetes 1	Enrichment	VEGFA	1.96
158	Lymphangioma	Enrichment	BRAF	1.96
159	Ataxia-telangiectasia-like disorder 1	Enrichment	MRE11	1.96
160	Phace association	Enrichment	BRAF	1.96
161	Hair morphology 1	Enrichment	EDAR	1.96
162	Colorectal cancer, hereditary nonpolyposis, type 6	Enrichment	TGFBR2	1.96
163	Cutaneous telangiectasia and cancer syndrome, familial	Enrichment	ATR	1.96
164	Immunodeficiency 31a	Enrichment	STAT1	1.96
165	Immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction	Enrichment	FADD	1.96
166	Polydactyly-macrocephaly syndrome	Enrichment	MAX	1.96
167	Cowden syndrome 6	Enrichment	AKT1	1.96
168	Charcot-marie-tooth disease, axonal, type 2q	Enrichment	DHTKD1	1.96
169	Loeys-dietz syndrome 6	Enrichment	SMAD2	1.96
170	Colorectal cancer 3	Enrichment	SMAD7	1.96
171	Retinitis pigmentosa 4	Enrichment	RHO	1.96
172	Endometrial serous adenocarcinoma	Enrichment	ATM	1.96
173	Immunodeficiency 31b	Enrichment	STAT1	1.96
174	Muscular dystrophy-dystroglycanopathy , type c, 9	Enrichment	DAG1	1.96
175	Glioma susceptibility 2	Enrichment	PTEN	1.96
176	Ductal carcinoma in situ	Enrichment	TP53	1.96
177	Smarca4-deficient sarcoma of thorax	Enrichment	SMARCA4	1.96
178	Ovarian small cell carcinoma	Enrichment	SMARCA4	1.96
179	Mismatch repair cancer syndrome 2	Enrichment	MSH2	1.96
180	Takenouchi-kosaki syndrome	Enrichment	CDC42	1.96
181	Bartsocas-papas syndrome 2	Enrichment	CHUK	1.96
182	Intellectual developmental disorder, autosomal recessive 79	Enrichment	TPR	1.96
183	Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies	Enrichment	ZMIZ1	1.96
184	Leiomyosarcoma	Enrichment	CHEK2	1.96
185	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	Enrichment	RALGAPA1	1.96
186	Intellectual developmental disorder, autosomal recessive 59	Enrichment	IMPA1	1.96
187	Rectal benign neoplasm	Enrichment	MSH2	1.96
188	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	1.96
189	Trilateral retinoblastoma	Enrichment	RB1	1.96
190	Plexiform neurofibroma	Enrichment	NF1	1.96
191	Congenital heart defects, multiple types, 8, with or without heterotaxy	Enrichment	SMAD2	1.96
192	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	1.96
193	Adenoid ameloblastoma	Enrichment	CTNNB1	1.96
194	Neurofibroma	Enrichment	NF1	1.96
195	Heritable thoracic aortic disease	Enrichment	SMAD4	1.96
196	Low density lipoprotein cholesterol level quantitative trait locus 3	Enrichment	HMGCR	1.96
197	Muscular dystrophy, limb-girdle, autosomal recessive 28	Enrichment	HMGCR	1.96
198	Ascending colon cancer	Enrichment	MSH2	1.96
199	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	1.96
200	Breast ductal carcinoma	Enrichment	RAD54L	1.96
201	Neurofibromatosis	Enrichment	NF1	1.96
202	Oocyte/zygote/embryo maturation arrest 21	Enrichment	CHEK1	1.96
203	Breast lobular carcinoma	Enrichment	CDH1	1.96
204	Chromosome 17q11.2 deletion syndrome	Enrichment	NF1	1.96
205	Primary pulmonary hypertension	Enrichment	BMPR2	1.96
206	Congenital pulmonary airway malformation	Enrichment	KRAS	1.96
207	B-cell non-hodgkin lymphoma	Enrichment	ATM	1.96
208	Optic nerve glioma	Enrichment	NF1	1.96
209	Choroid plexus cancer	Enrichment	TP53	1.96
210	Ovarian cyst	Enrichment	MSH2	1.96
211	Pulmonary hypertension	Enrichment	BMPR2	1.96
212	Complete androgen insensitivity syndrome	Enrichment	AR	1.96
213	Drug- or toxin-induced pulmonary arterial hypertension	Enrichment	BMPR2	1.96
214	Nocarh syndrome	Enrichment	CDC42	1.96
215	Syringocystadenoma papilliferum	Enrichment	BRAF	1.96
216	Aplasia cutis-enamel dysplasia syndrome	Enrichment	FOSL2	1.96
217	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	1.96
218	Pleomorphic xanthoastrocytoma	Enrichment	TP53	1.96
219	Ganglioglioma	Enrichment	BRAF	1.96
220	Nongerminomatous germ cell tumor	Enrichment	BRAF	1.96
221	Phace syndrome	Enrichment	BRAF	1.96
222	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	Enrichment	DAG1	1.96
223	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Enrichment	ATR	1.96
224	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	1.96
225	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.96
226	Classic hairy cell leukemia	Enrichment	BRAF	1.96
227	Intestinal polyposis syndrome	Enrichment	STK11	1.96
228	Mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency	Enrichment	JAK1	1.96
229	Microcystic stromal tumor	Enrichment	CTNNB1	1.96
230	Primary peritoneal carcinoma	Enrichment	BRCA1	1.96
231	Lung oat cell carcinoma	Enrichment	RB1	1.96
232	Renal cell carcinoma, nonpapillary	Enrichment	ATM, MTOR	1.94
233	Rare genetic intellectual disability	Enrichment	EP300, MTOR	1.94
234	Noonan syndrome and noonan-related syndrome	Enrichment	BRAF, KRAS	1.94
235	Polycystic liver disease	Enrichment	CDC25A, CTNNB1	1.83
236	Autosomal dominant polycystic liver disease	Enrichment	CDC25A, CTNNB1	1.83
237	Heart, malformation of	Enrichment	MAPK1, SMAD6	1.78
238	Cafe-au-lait spots, multiple	Enrichment	NF1	1.66
239	Blepharocheilodontic syndrome 1	Enrichment	CDH1	1.66
240	Peutz-jeghers syndrome	Enrichment	STK11	1.66
241	Burkitt lymphoma	Enrichment	MYC	1.66
242	Myhre syndrome	Enrichment	SMAD4	1.66
243	Muir-torre syndrome	Enrichment	MSH2	1.66
244	Adrenocortical carcinoma, hereditary	Enrichment	TP53	1.66
245	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Enrichment	TPR	1.66
246	Spinal and bulbar muscular atrophy, x-linked 1	Enrichment	AR	1.66
247	Pulmonary venoocclusive disease 1, autosomal dominant	Enrichment	BMPR2	1.66
248	Osteopathia striata with cranial sclerosis	Enrichment	CTNNB1	1.66
249	Cervical cancer	Enrichment	TP53	1.66
250	Pulmonic stenosis	Enrichment	BRAF	1.66
251	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.66
252	Rhabdoid tumor predisposition syndrome 2	Enrichment	SMARCA4	1.66
253	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Enrichment	SMAD4	1.66
254	Microvascular complications of diabetes 5	Enrichment	TGFBR2	1.66
255	Melanoma, cutaneous malignant 6	Enrichment	XRCC3	1.66
256	Encephalocraniocutaneous lipomatosis	Enrichment	KRAS	1.66
257	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS	1.66
258	Fibrodysplasia ossificans progressiva	Enrichment	BMPR2	1.66
259	Chromosome 13q14 deletion syndrome	Enrichment	RB1	1.66
260	Lymphoma, hodgkin, classic	Enrichment	TP53	1.66
261	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	1.66
262	Immunodeficiency 31c	Enrichment	STAT1	1.66
263	Congenital heart defects, multiple types, 3	Enrichment	CHEK2	1.66
264	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.66
265	Neuropathy, congenital hypomyelinating, 2	Enrichment	RHO	1.66
266	Congenital heart defects and skeletal malformations syndrome	Enrichment	ABL1	1.66
267	Fanconi anemia, complementation group s	Enrichment	BRCA1	1.66
268	Cardiac valvular dysplasia, x-linked	Enrichment	ATM	1.66
269	46,xy sex reversal 1	Enrichment	AR	1.66
270	Androgen insensitivity syndrome	Enrichment	AR	1.66
271	Nephrotic syndrome, type 17	Enrichment	NUP85	1.66
272	Cebalid syndrome	Enrichment	MTOR	1.66
273	Menke-hennekam syndrome 2	Enrichment	EP300	1.66
274	Chromosome 17q11.2 duplication syndrome, 1.4-mb	Enrichment	NF1	1.66
275	Perrault syndrome 6	Enrichment	ERAL1	1.66
276	Pulmonary venoocclusive disease 1	Enrichment	BMPR2	1.66
277	Intravascular large b-cell lymphoma	Enrichment	BCL2	1.66
278	Pancreatic cancer 4	Enrichment	BRCA1	1.66
279	Hypospadias 1, x-linked	Enrichment	AR	1.66
280	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	1.66
281	Rhabdoid tumor predisposition syndrome	Enrichment	SMARCA4	1.66
282	Diffuse midline glioma, h3 k27m-mutant	Enrichment	BRCA2	1.66
283	Recessive dystrophic epidermolysis bullosa	Enrichment	MMP1	1.66
284	Optic disk drusen	Enrichment	RHO	1.66
285	Congenital fibrosarcoma	Enrichment	TP53	1.66
286	High grade glioma	Enrichment	ATM	1.66
287	Fanconi anemia, complementation group d1	Enrichment	BRCA2	1.66
288	Autoinflammation, immune dysregulation, and eosinophilia	Enrichment	JAK1	1.66
289	Bardet-biedl syndrome 9	Enrichment	NF1	1.66
290	Neuromuscular disorder, congenital, with dysmorphic facies	Enrichment	FILIP1	1.66
291	Otosclerosis 12	Enrichment	SMARCA4	1.66
292	Coffin-siris syndrome 4	Enrichment	SMARCA4	1.66
293	Cervix carcinoma	Enrichment	TP53	1.66
294	Immune system disease	Enrichment	CDC42	1.66
295	Hodgkin's lymphoma	Enrichment	TP53	1.66
296	Aortic valve disease 2	Enrichment	SMAD6	1.66
297	T-cell prolymphocytic leukemia	Enrichment	ATM	1.66
298	Smith-kingsmore syndrome	Enrichment	MTOR	1.66
299	Craniosynostosis 7	Enrichment	SMAD6	1.66
300	Mismatch repair cancer syndrome 3	Enrichment	MSH6	1.66
301	Hereditary mixed polyposis syndrome	Enrichment	BMPR1A	1.66
302	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	1.66
303	Peritoneum cancer	Enrichment	BRCA1	1.66
304	Radioulnar synostosis	Enrichment	SMAD6	1.66
305	Vacterl with hydrocephalus	Enrichment	PTEN	1.66
306	Posterior hypospadias	Enrichment	AR	1.66
307	Pulmonary venoocclusive disease	Enrichment	BMPR2	1.66
308	Teratoma	Enrichment	CTNNB1	1.66
309	Familial retinoblastoma	Enrichment	RB1	1.66
310	Common variable immunodeficiency 12	Enrichment	NFKB1	1.66
311	Oculootodental syndrome	Enrichment	FADD	1.66
312	Idiopathic/heritable pulmonary arterial hypertension	Enrichment	BMPR2	1.66
313	Neuroendocrine tumor of pancreas	Enrichment	BRCA2	1.66
314	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	MAX, NF1	1.65
315	Precursor t-cell acute lymphoblastic leukemia	Enrichment	ABL1, MYC	1.58
316	Primary ovarian insufficiency	Enrichment	CHEK2, CYP19A1, RAD54L	1.56
317	Desmoid disease, hereditary	Enrichment	CTNNB1	1.48
318	Retinoblastoma	Enrichment	RB1	1.48
319	Polycythemia vera	Enrichment	ATM	1.48
320	Watson syndrome	Enrichment	NF1	1.48
321	Polycystic kidney disease, infantile severe, with tuberous sclerosis	Enrichment	TSC2	1.48
322	Langerhans cell histiocytosis	Enrichment	BRAF	1.48
323	Aromatase excess syndrome	Enrichment	CYP19A1	1.48
324	Nasopharyngeal carcinoma	Enrichment	TP53	1.48
325	Neurofibromatosis, familial spinal	Enrichment	NF1	1.48
326	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	1.48
327	Estrogen resistance	Enrichment	ESR1	1.48
328	Tuberous sclerosis 2	Enrichment	TSC2	1.48
329	Woolly hair, autosomal recessive 3	Enrichment	RB1	1.48
330	Chromosome 17q11.2 deletion syndrome, 1.4-mb	Enrichment	NF1	1.48
331	Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	EDAR	1.48
332	Neonatal nephrocutaneous inflammatory syndrome	Enrichment	EGFR	1.48
333	Ceroid lipofuscinosis, neuronal, 11	Enrichment	GRN	1.48
334	Tumor predisposition syndrome 1	Enrichment	BRCA2	1.48
335	Lynch syndrome 5	Enrichment	MSH6	1.48
336	Anus, imperforate	Enrichment	CTNNB1	1.48
337	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	1.48
338	Hypotrichosis 8	Enrichment	RB1	1.48
339	Tethered spinal cord syndrome	Enrichment	BRAF	1.48
340	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK1	1.48
341	Koolen-de vries syndrome	Enrichment	ATM	1.48
342	Desmoid tumor	Enrichment	CTNNB1	1.48
343	Atypical teratoid rhabdoid tumor	Enrichment	TP53	1.48
344	Testicular germ cell cancer	Enrichment	STK11	1.48
345	Anaplastic astrocytoma	Enrichment	TP53	1.48
346	Xanthinuria, type ii	Enrichment	TSC2	1.48
347	Cellular ependymoma	Enrichment	MSH2	1.48
348	Tanycytic ependymoma	Enrichment	MSH2	1.48
349	Papillary ependymoma	Enrichment	MSH2	1.48
350	Migraine without aura	Enrichment	ESR1	1.48
351	Aromatase deficiency	Enrichment	CYP19A1	1.48
352	Microcephaly 17, primary, autosomal recessive	Enrichment	RHO	1.48
353	Brain cancer	Enrichment	NF1	1.48
354	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.48
355	Bap1 tumor predisposition syndrome	Enrichment	BRCA2	1.48
356	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	Enrichment	MSH6	1.48
357	Advanced sleep phase syndrome	Enrichment	CSNK1D	1.48
358	Neonatal inflammatory skin and bowel disease	Enrichment	EGFR	1.48
359	Clear cell ependymoma	Enrichment	MSH2	1.48
360	Testicular cancer	Enrichment	STK11	1.48
361	Pulmonary arterial hypertension associated with congenital heart disease	Enrichment	BMPR2	1.48
362	Apc-associated polyposis conditions	Enrichment	STK11	1.48
363	Mirror movements 1	Enrichment	RAD51	1.36
364	Schimmelpenning-feuerstein-mims syndrome	Enrichment	KRAS	1.36
365	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	Enrichment	MRE11	1.36
366	Gaucher disease, type i	Enrichment	MSH6	1.36
367	Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	EDAR	1.36
368	Chordoma	Enrichment	BRCA2	1.36
369	Neurofibromatosis-noonan syndrome	Enrichment	NF1	1.36
370	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	PIK3R2	1.36
371	Frontotemporal dementia 2	Enrichment	GRN	1.36
372	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.36
373	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	PIK3R2	1.36
374	Pilomatrixoma	Enrichment	CTNNB1	1.36
375	Alazami syndrome	Enrichment	CTNNB1	1.36
376	Arthrogryposis multiplex congenita 3, myogenic type	Enrichment	ESR1	1.36
377	Ectodermal dysplasia	Enrichment	EDAR	1.36
378	Aortic aneurysm	Enrichment	TGFBR1	1.36
379	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42	1.36
380	Noonan syndrome with multiple lentigines	Enrichment	BRAF	1.36
381	Newborn respiratory distress syndrome	Enrichment	BRAF	1.36
382	Hemoglobin c disease	Enrichment	CHEK2	1.36
383	Glioma	Enrichment	PTEN	1.36
384	Benign ependymoma	Enrichment	MSH2	1.36
385	Middle aortic syndrome	Enrichment	NF1	1.36
386	Oculomotor apraxia	Enrichment	ATM	1.36
387	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	CHEK1	1.36
388	Microcephaly	Enrichment	ABL1, CTNNB1, EP300, MAPK1	1.32
389	Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant	Enrichment	EDAR	1.27
390	Retinal detachment	Enrichment	RHO	1.27
391	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	1.27
392	Von hippel-lindau syndrome	Enrichment	CCND1	1.27
393	Variegate porphyria	Enrichment	USP21	1.27
394	Macrocephaly/autism syndrome	Enrichment	PTEN	1.27
395	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	Enrichment	GRN	1.27
396	Familial adenomatous polyposis 1	Enrichment	STK11	1.27
397	Rubinstein-taybi syndrome 2	Enrichment	EP300	1.27
398	Follicular lymphoma	Enrichment	BCL2	1.27
399	Lymphoma	Enrichment	TP53	1.27
400	Night blindness	Enrichment	RHO	1.27
401	Hemangioma	Enrichment	PTEN	1.27
402	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Enrichment	EDAR	1.27
403	Kabuki syndrome 1	Enrichment	BRCA2	1.19
404	Weyers acrofacial dysostosis	Enrichment	CTNNB1	1.19
405	Rubinstein-taybi syndrome 1	Enrichment	EP300	1.19
406	Testicular germ cell tumor	Enrichment	STK11	1.19
407	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	EP300	1.19
408	Keratoconus	Enrichment	TSC1	1.19
409	Clear cell renal cell carcinoma	Enrichment	ATM	1.19
410	Chronic mucocutaneous candidiasis	Enrichment	STAT1	1.19
411	Classic ehlers-danlos syndrome	Enrichment	TGFBR1	1.19
412	Cleft lip with or without cleft palate	Enrichment	CDH1	1.19
413	Cerebral palsy	Enrichment	BRCA2, SMARCA4	1.16
414	Leukemia, acute myeloid	Enrichment	KRAS, TP53	1.14
415	Nevus, epidermal	Enrichment	KRAS	1.13
416	Polycystic kidney disease 1 with or without polycystic liver disease	Enrichment	TSC2	1.13
417	Fundus albipunctatus	Enrichment	RHO	1.13
418	Mitochondrial dna depletion syndrome 4a	Enrichment	EDAR	1.13
419	Coats disease	Enrichment	RHO	1.13
420	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS	1.13
421	Noonan syndrome 3	Enrichment	KRAS	1.13
422	Semantic dementia	Enrichment	GRN	1.13
423	Polycystic kidney disease 1	Enrichment	TSC2	1.13
424	Parkinsonism	Enrichment	GRN	1.13
425	Essential thrombocythemia	Enrichment	TP53	1.13
426	Hereditary hemorrhagic telangiectasia	Enrichment	SMAD4	1.13
427	Common variable immunodeficiency	Enrichment	NFKB1	1.13
428	Overgrowth syndrome	Enrichment	MTOR	1.13
429	Moyamoya angiopathy	Enrichment	ABL1	1.13
430	West syndrome	Enrichment	RALGAPA1, TSC2	1.07
431	Melanocytic nevus syndrome, congenital	Enrichment	BRAF	1.07
432	Glioma susceptibility 1	Enrichment	TP53	1.07
433	Isolated growth hormone deficiency, type ia	Enrichment	BRCA2	1.07
434	Ewing sarcoma	Enrichment	NF1	1.07
435	Mitochondrial dna depletion syndrome 4b	Enrichment	EDAR	1.07
436	Exudative vitreoretinopathy	Enrichment	CTNNB1	1.07
437	Neuroblastoma	Enrichment	SMARCA4	1.07
438	Difference of sex development	Enrichment	AR	1.07
439	Tooth agenesis, selective, 1	Enrichment	BMPR2	1.02
440	Neurofibromatosis, type i	Enrichment	NF1	1.02
441	Cardiomyopathy, familial hypertrophic, 4	Enrichment	BRAF	1.02
442	Tracheoesophageal fistula with or without esophageal atresia	Enrichment	BRCA2	1.02
443	Charge syndrome	Enrichment	EP300	1.02
444	Leukemia, acute lymphoblastic 3	Enrichment	NF1	1.02
445	Perrault syndrome 2	Enrichment	ERAL1	1.02
446	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	1.02
447	Progressive non-fluent aphasia	Enrichment	GRN	1.02
448	Limb-girdle muscular dystrophy	Enrichment	HMGCR	1.02
449	Behavioral variant of frontotemporal dementia	Enrichment	GRN	1.02
450	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	0.98
451	Isolated tracheo-esophageal fistula	Enrichment	BRCA2	0.98
452	Congenital nervous system abnormality	Enrichment	CTNNB1, PTEN, TSC2	0.95
453	Nervous system disease	Enrichment	CTNNB1, PTEN, TSC2	0.95
454	Migraine with or without aura 1	Enrichment	ESR1	0.94
455	Pectus excavatum	Enrichment	TGFBR1	0.94
456	Immune deficiency disease	Enrichment	ATM	0.94
457	Frontotemporal dementia 1	Enrichment	GRN	0.94
458	Meningioma, familial	Enrichment	PTEN	0.94
459	Myelodysplastic syndrome	Enrichment	TP53	0.94
460	Atrial heart septal defect	Enrichment	SMARCA4	0.94
461	46,xy complete gonadal dysgenesis	Enrichment	AR	0.94
462	Heritable pulmonary arterial hypertension	Enrichment	BMPR2	0.94
463	Interatrial communication	Enrichment	SMARCA4	0.94
464	Specific learning disability	Enrichment	MAPK1	0.94
465	Autism spectrum disorder	Enrichment	NF1, PTEN, TSC2	0.92
466	Aortic valve disease 1	Enrichment	SMAD6	0.87
467	Hypercholesterolemia, familial, 1	Enrichment	SMARCA4	0.87
468	Pulmonary hypertension, primary, 1	Enrichment	BMPR2	0.87
469	Acute promyelocytic leukemia	Enrichment	PML	0.87
470	Alzheimer's disease	Enrichment	GRN	0.87
471	Nk-cell enteropathy	Enrichment	CHEK2	0.87
472	Autosomal recessive non-syndromic intellectual disability	Enrichment	IMPA1, TPR	0.87
473	Aortic aneurysm, familial thoracic 1	Enrichment	SMAD6	0.84
474	Periventricular nodular heterotopia	Enrichment	BRCA1	0.84
475	Walker-warburg syndrome	Enrichment	DAG1	0.84
476	Heart disease	Enrichment	ABL1	0.84
477	Cataract	Enrichment	RHO	0.84
478	Cleft lip/palate	Enrichment	CDH1	0.84
479	Coffin-siris syndrome 1	Enrichment	SMARCA4	0.81
480	Polydactyly, postaxial, type a1	Enrichment	EP300	0.81
481	Familial hypercholesterolemia	Enrichment	SMARCA4	0.81
482	Autosomal dominant polycystic kidney disease	Enrichment	TSC2	0.81
483	Kidney disease	Enrichment	TSC1	0.81
484	Creatine phosphokinase, elevated serum	Enrichment	DAG1	0.79
485	Perrault syndrome 1	Enrichment	ERAL1	0.79
486	Isolated elevated serum creatine phosphokinase levels	Enrichment	DAG1	0.79
487	Alzheimer disease, familial, 1	Enrichment	GRN	0.76
488	Cleft palate, isolated	Enrichment	SMARCA4	0.76
489	Dandy-walker syndrome	Enrichment	BRAF	0.76
490	Esophageal atresia/tracheoesophageal fistula	Enrichment	BRCA2	0.72
491	Ehlers-danlos syndrome	Enrichment	TGFBR2	0.72
492	Craniosynostosis	Enrichment	SMAD6	0.70
493	Myocardial infarction	Enrichment	ESR1	0.66
494	Tooth agenesis	Enrichment	EDAR	0.66
495	Skin disease	Enrichment	NF1	0.66
496	Diamond-blackfan anemia 1	Enrichment	TP53	0.65
497	Congenital stationary night blindness	Enrichment	RHO	0.65
498	Non-immune hydrops fetalis	Enrichment	KRAS	0.53
499	Connective tissue disease	Enrichment	TGFBR2	0.52
500	Nephronophthisis	Enrichment	PIAS1	0.51
501	Male infertility	Enrichment	AR	0.50
502	Genetic steroid-resistant nephrotic syndrome	Enrichment	NUP85	0.50
503	Non-syndromic x-linked intellectual disability	Enrichment	GDI1	0.48
504	Diamond-blackfan anemia	Enrichment	TP53	0.48
505	Type 2 diabetes mellitus	Enrichment	IRS1	0.43
506	Complex neurodevelopmental disorder	Enrichment	RALA, ZMIZ1	0.40
507	Thrombocytopenia	Enrichment	SMAD4	0.38
508	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	AR	0.33
509	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	GRN	0.32
510	Cone-rod dystrophy 2	Enrichment	RHO	0.27
511	Dilated cardiomyopathy	Enrichment	BRAF	0.23
512	Retinitis pigmentosa	Enrichment	AHR, RHO	0.17
513	Hereditary retinal dystrophy	Enrichment	RHO	0.02
514	Fundus dystrophy	Enrichment	RHO	0.02

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

Integrated breast cancer pathway

Pathway Network for Integrated breast cancer pathway

Member Pathways for Integrated breast cancer pathway

Pathways in the Integrated breast cancer pathway SuperPath

Associated Genes for Integrated breast cancer pathway

Associated Disorders for Integrated breast cancer pathway

Disorders associated with Integrated breast cancer pathway SuperPath

STRING Interaction Network for Integrated breast cancer pathway

Sources for Integrated breast cancer pathway