Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)

Pathway network for the Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) SuperPath

Sources:

Reactome
GeneGo (Thomson Reuters)

Pathways in the Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) SuperPath

#	Name	Source	Genes
1	Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)	Reactome	CCND1 CCND2 CCND3 CCNE1 CCNE2 CDK2 CDK4 CDK6 CDKN1A CDKN1B CDKN1C E2F1 E2F2 E2F3 RB1 TFDP1 TFDP2 (see all 17) (see less)
2	Cyclin D associated events in G1	Reactome	ABL1 CCND1 CCND2 CCND3 CCNE1 CCNE2 CCNH CDK2 CDK4 CDK6 CDK7 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDKN2D CKS1B CUL1 E2F1 E2F2 E2F3 E2F4 E2F5 JAK2 LYN MNAT1 PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R2A PPP2R3B PTK6 RB1 RBL1 RBL2 RPS27A SKP1 SKP2 SRC TFDP1 TFDP2 UBA52 UBB UBC (see all 47) (see less)
3	G1 Phase	Reactome	ABL1 CCND1 CCND2 CCND3 CCNE1 CCNE2 CCNH CDK2 CDK4 CDK6 CDK7 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CDKN2D CKS1B CUL1 E2F1 E2F2 E2F3 E2F4 E2F5 JAK2 LYN MNAT1 PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R2A PPP2R3B PTK6 RB1 RBL1 RBL2 RPS27A SKP1 SKP2 SRC TFDP1 TFDP2 UBA52 UBB UBC (see all 47) (see less)
4	Diseases of mitotic cell cycle	Reactome	ANAPC1 ANAPC10 ANAPC11 ANAPC15 ANAPC16 ANAPC2 ANAPC4 ANAPC5 ANAPC7 ATRX CCND1 CCND2 CCND3 CCNE1 CCNE2 CDC16 CDC23 CDC26 CDC27 CDK2 CDK4 CDK6 CDKN1A CDKN1B CDKN1C DAXX E2F1 E2F2 E2F3 FZR1 RB1 SKP2 TFDP1 TFDP2 UBE2C UBE2D1 UBE2E1 UBE2S (see all 38) (see less)
5	Aberrant regulation of mitotic cell cycle due to RB1 defects	Reactome	ANAPC1 ANAPC10 ANAPC11 ANAPC15 ANAPC16 ANAPC2 ANAPC4 ANAPC5 ANAPC7 CCND1 CCND2 CCND3 CCNE1 CCNE2 CDC16 CDC23 CDC26 CDC27 CDK2 CDK4 CDK6 CDKN1A CDKN1B CDKN1C E2F1 E2F2 E2F3 FZR1 RB1 SKP2 TFDP1 TFDP2 UBE2C UBE2D1 UBE2E1 UBE2S (see all 36) (see less)
6	Cell cycle Regulation of G1/S transition (part 2)	GeneGo (Thomson Reuters)	AKT1 AKT2 AKT3 CCNA1 CCNA2 CCND1 CCND2 CCND3 CCNE1 CCNH CDK2 CDK4 CDK6 CDK7 CHUK E2F1 E2F4 FOS GSK3B JUN MAPK1 MAPK3 MNAT1 RB1 RBL1 RBL2 RELA SP1 TFDP1 (see all 29) (see less)
7	Cell cycle Cell cycle (generic schema)	GeneGo (Thomson Reuters)	CCNA1 CCNA2 CCNB1 CCNB2 CCNB3 CCND1 CCND2 CCND3 CCNE1 CDC25A CDC25B CDC25C CDK1 CDK2 CDK4 CDK6 E2F1 E2F2 E2F3 E2F4 E2F5 E2F6 RB1 RBL1 RBL2 TFDP1 (see all 26) (see less)
8	Aberrant regulation of mitotic exit in cancer due to RB1 defects	Reactome	ANAPC1 ANAPC10 ANAPC11 ANAPC15 ANAPC16 ANAPC2 ANAPC4 ANAPC5 ANAPC7 CDC16 CDC23 CDC26 CDC27 FZR1 RB1 SKP2 UBE2C UBE2D1 UBE2E1 UBE2S (see all 20) (see less)
9	Aberrant regulation of mitotic G1/S transition in cancer due to RB1 defects	Reactome	CCND1 CCND2 CCND3 CCNE1 CCNE2 CDK2 CDK4 CDK6 CDKN1A CDKN1B CDKN1C E2F1 E2F2 E2F3 RB1 TFDP1 TFDP2 (see all 17) (see less)
10	PTK6 Regulates Cell Cycle	Reactome	CCND1 CCNE1 CDK2 CDK4 CDKN1B PTK6 (see all 6) (see less)
11	G2 Phase	Reactome	CCNA1 CCNA2 CDK2 E2F1 E2F3
12	Drug-mediated inhibition of CDK4/CDK6 activity	Reactome	CCND1 CCND2 CCND3 CDK4 CDK6
13	Phosphorylation of proteins involved in G1/S transition by active Cyclin E:Cdk2 complexes	Reactome	CCNE1 CCNE2 CDK2 RB1
14	Defective translocation of RB1 mutants to the nucleus	Reactome	RB1

Gene overlap in member pathways for Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	CDK2	Cyclin Dependent Kinase 2	Protein Coding	11
2	RB1	RB Transcriptional Corepressor 1	Protein Coding	11
3	CDK4	Cyclin Dependent Kinase 4	Protein Coding	10
4	CCND1	Cyclin D1	Protein Coding	10
5	CCNE1	Cyclin E1	Protein Coding	10
6	CDK6	Cyclin Dependent Kinase 6	Protein Coding	9
7	E2F1	E2F Transcription Factor 1	Protein Coding	9
8	CCND2	Cyclin D2	Protein Coding	9
9	CCND3	Cyclin D3	Protein Coding	9
10	E2F3	E2F Transcription Factor 3	Protein Coding	8
11	TFDP1	Transcription Factor Dp-1	Protein Coding	8
12	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	7
13	E2F2	E2F Transcription Factor 2	Protein Coding	7
14	CCNE2	Cyclin E2	Protein Coding	7
15	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	6
16	CDKN1C	Cyclin Dependent Kinase Inhibitor 1C	Protein Coding	6
17	TFDP2	Transcription Factor Dp-2	Protein Coding	6
18	SKP2	S-Phase Kinase Associated Protein 2	Protein Coding	5
19	E2F4	E2F Transcription Factor 4	Protein Coding	4
20	RBL1	RB Transcriptional Corepressor Like 1	Protein Coding	4
21	RBL2	RB Transcriptional Corepressor Like 2	Protein Coding	4
22	CDK7	Cyclin Dependent Kinase 7	Protein Coding	3
23	E2F5	E2F Transcription Factor 5	Protein Coding	3
24	MNAT1	MNAT1 Component Of CDK Activating Kinase	Protein Coding	3
25	PTK6	Protein Tyrosine Kinase 6	Protein Coding	3
26	CCNH	Cyclin H	Protein Coding	3
27	ANAPC10	Anaphase Promoting Complex Subunit 10	Protein Coding	3
28	UBE2C	Ubiquitin Conjugating Enzyme E2 C	Protein Coding	3
29	ANAPC16	Anaphase Promoting Complex Subunit 16	Protein Coding	3
30	CDC26	Cell Division Cycle 26	Protein Coding	3
31	ANAPC15	Anaphase Promoting Complex Subunit 15	Protein Coding	3
32	UBE2S	Ubiquitin Conjugating Enzyme E2 S	Protein Coding	3
33	ANAPC2	Anaphase Promoting Complex Subunit 2	Protein Coding	3
34	ANAPC4	Anaphase Promoting Complex Subunit 4	Protein Coding	3
35	FZR1	Fizzy And Cell Division Cycle 20 Related 1	Protein Coding	3
36	ANAPC5	Anaphase Promoting Complex Subunit 5	Protein Coding	3
37	ANAPC7	Anaphase Promoting Complex Subunit 7	Protein Coding	3
38	ANAPC11	Anaphase Promoting Complex Subunit 11	Protein Coding	3
39	ANAPC1	Anaphase Promoting Complex Subunit 1	Protein Coding	3
40	UBE2D1	Ubiquitin Conjugating Enzyme E2 D1	Protein Coding	3
41	UBE2E1	Ubiquitin Conjugating Enzyme E2 E1	Protein Coding	3
42	CDC23	Cell Division Cycle 23	Protein Coding	3
43	CDC16	Cell Division Cycle 16	Protein Coding	3
44	CDC27	Cell Division Cycle 27	Protein Coding	3
45	CCNA2	Cyclin A2	Protein Coding	3
46	CCNA1	Cyclin A1	Protein Coding	3
47	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	2
48	CDKN2B	Cyclin Dependent Kinase Inhibitor 2B	Protein Coding	2
49	CDKN2C	Cyclin Dependent Kinase Inhibitor 2C	Protein Coding	2
50	CDKN2D	Cyclin Dependent Kinase Inhibitor 2D	Protein Coding	2
51	CKS1B	CDC28 Protein Kinase Regulatory Subunit 1B	Protein Coding	2
52	ABL1	ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase	Protein Coding	2
53	PPP2R3B	Protein Phosphatase 2 Regulatory Subunit B''''Beta~Name Same As:- HGNC:9310	Protein Coding	2
54	JAK2	Janus Kinase 2	Protein Coding	2
55	LYN	LYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	2
56	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	2
57	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	2
58	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	2
59	PPP2R1B	Protein Phosphatase 2 Scaffold Subunit Abeta	Protein Coding	2
60	PPP2R2A	Protein Phosphatase 2 Regulatory Subunit Balpha	Protein Coding	2
61	RPS27A	Ribosomal Protein S27a	Protein Coding	2
62	SKP1	S-Phase Kinase Associated Protein 1	Protein Coding	2
63	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	2
64	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	2
65	UBB	Ubiquitin B	Protein Coding	2
66	UBC	Ubiquitin C	Protein Coding	2
67	CUL1	Cullin 1	Protein Coding	2
68	DAXX	Death Domain Associated Protein	Protein Coding	1
69	ATRX	ATRX Chromatin Remodeler	Protein Coding	1
70	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
71	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	1
72	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	1
73	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
74	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	1
75	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
76	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
77	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	1
78	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	1
79	SP1	Sp1 Transcription Factor	Protein Coding	1
80	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	1
81	CCNB1	Cyclin B1	Protein Coding	1
82	CDK1	Cyclin Dependent Kinase 1	Protein Coding	1
83	CDC25A	Cell Division Cycle 25A	Protein Coding	1
84	CDC25B	Cell Division Cycle 25B	Protein Coding	1
85	CDC25C	Cell Division Cycle 25C	Protein Coding	1
86	E2F6	E2F Transcription Factor 6	Protein Coding	1
87	CCNB2	Cyclin B2	Protein Coding	1
88	CCNB3	Cyclin B3	Protein Coding	1

Disorders associated with Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A, CDKN1B, CDKN2B, CDKN2C	8.35
2	Lip and oral cavity carcinoma	Enrichment	ABL1, CDKN2A, RB1	5.08
3	Melanoma, cutaneous malignant 1	Enrichment	CDK4, CDKN2A, CDKN2B	4.59
4	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, CCND2	4.58
5	Trilateral retinoblastoma	Enrichment	RB1	4.13
6	Lung oat cell carcinoma	Enrichment	RB1	4.13
7	Bladder cancer	Enrichment	CDKN1A, CDKN2A, RB1	3.87
8	Chromosome 13q14 deletion syndrome	Enrichment	RB1	3.83
9	Familial retinoblastoma	Enrichment	RB1	3.83
10	Retinoblastoma	Enrichment	RB1	3.66
11	Osteogenic sarcoma	Enrichment	RB1	3.66
12	Woolly hair, autosomal recessive 3	Enrichment	RB1	3.66
13	Hypotrichosis 8	Enrichment	RB1	3.66
14	Squamous cell carcinoma	Enrichment	RB1	3.66
15	Bone osteosarcoma	Enrichment	RB1	3.66
16	Myelofibrosis	Enrichment	JAK2, SRC	3.61
17	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	ABL1, CDKN2A	3.61
18	Small cell cancer of the lung	Enrichment	RB1	3.53
19	Lynch syndrome 4	Enrichment	RB1	3.53
20	Melanoma, cutaneous malignant 3	Enrichment	CDK4	3.43
21	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	Enrichment	CCND2	3.43
22	Microcephaly 12, primary, autosomal recessive	Enrichment	CDK6	3.43
23	Neuroendocrine tumor	Enrichment	CDKN1B	3.35
24	Inherited cancer-predisposing syndrome	Enrichment	CDK4, CDKN1B, RB1	3.26
25	Multiple endocrine neoplasia, type iv	Enrichment	CDKN1B	3.05
26	Lung cancer susceptibility 3	Enrichment	RB1	2.99
27	Dedifferentiated liposarcoma	Enrichment	CDK4	2.96
28	Well-differentiated liposarcoma	Enrichment	CDK4	2.96
29	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	Enrichment	CDKN1C	2.90
30	Mantle cell lymphoma	Enrichment	CCND1	2.83
31	Ferguson-bonni neurodevelopmental syndrome	Enrichment	ANAPC7	2.83
32	Developmental and epileptic encephalopathy 109	Enrichment	FZR1	2.83
33	Rothmund-thomson syndrome, type 1	Enrichment	ANAPC1	2.83
34	Primary hyperparathyroidism	Enrichment	CDKN1B	2.75
35	Von hippel-lindau syndrome	Enrichment	CCND1	2.73
36	Brunet-wagner neurodevelopmental syndrome	Enrichment	RBL2	2.72
37	Proteus syndrome	Enrichment	AKT1	2.67
38	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	2.67
39	Fetal encasement syndrome	Enrichment	CHUK	2.67
40	Noonan syndrome 13	Enrichment	MAPK1	2.67
41	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	2.67
42	Cowden syndrome 6	Enrichment	AKT1	2.67
43	Bartsocas-papas syndrome 2	Enrichment	CHUK	2.67
44	Capillary hemangioma	Enrichment	AKT3	2.67
45	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	2.67
46	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	2.67
47	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	Enrichment	CDKN1C	2.60
48	Intellectual disability-hypotonic facies syndrome, x-linked, 1	Enrichment	ATRX	2.55
49	Gastric neuroendocrine neoplasm	Enrichment	ATRX	2.55
50	Precursor t-cell acute lymphoblastic leukemia	Enrichment	ABL1, CDKN2A	2.55
51	Houge-janssens syndrome 2	Enrichment	PPP2R1A	2.46
52	Thrombocytopenia 6	Enrichment	SRC	2.46
53	Autoinflammatory disease, systemic, with vasculitis	Enrichment	LYN	2.46
54	Cdkn2a cancer predisposition	Enrichment	CDKN2A	2.46
55	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	2.46
56	Leukemia, chronic lymphocytic	Enrichment	CCND1	2.43
57	Autoinflammatory disease, familial, behcet-like 3	Enrichment	RELA	2.37
58	Rela fusion-positive ependymoma	Enrichment	RELA	2.37
59	Senior-loken syndrome 7	Enrichment	AKT3	2.37
60	Bardet-biedl syndrome 16	Enrichment	AKT3	2.37
61	Silver-russell syndrome due to a point mutation	Enrichment	CDKN1C	2.30
62	Ovarian cancer	Enrichment	CDKN1B, CDKN2A, RB1	2.29
63	Alpha-thalassemia myelodysplasia syndrome	Enrichment	ATRX	2.25
64	Alpha-thalassemia/impaired intellectual development syndrome, x-linked	Enrichment	ATRX	2.25
65	Alpha thalassemia-x-linked intellectual disability syndrome	Enrichment	ATRX	2.25
66	Wieacker-wolff syndrome	Enrichment	CCNH	2.19
67	Melanoma-astrocytoma syndrome	Enrichment	CDKN2A	2.16
68	Melanoma, cutaneous malignant 2	Enrichment	CDKN2A	2.16
69	Thrombocythemia 3	Enrichment	JAK2	2.16
70	Congenital heart defects and skeletal malformations syndrome	Enrichment	ABL1	2.16
71	Melanoma-pancreatic cancer syndrome	Enrichment	CDKN2A	2.16
72	Polycythemia	Enrichment	JAK2	2.16
73	Houge-janssens syndrome 3	Enrichment	PPP2CA	2.16
74	Hypereosinophilic syndrome	Enrichment	JAK2	2.16
75	Submucosal cleft palate	Enrichment	UBB	2.16
76	Cleft hard palate	Enrichment	UBB	2.16
77	Deafness, autosomal recessive 63	Enrichment	ANAPC15	2.13
78	Pregnancy loss, recurrent 1	Enrichment	CCNB3	2.12
79	Alpha thalassemia-intellectual disability syndrome type 1	Enrichment	ATRX	2.08
80	Atypical teratoid rhabdoid tumor	Enrichment	ATRX	2.08
81	Anaplastic astrocytoma	Enrichment	ATRX	2.08
82	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3	2.07
83	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	2.07
84	Congenital generalized lipodystrophy	Enrichment	FOS	2.07
85	Ciliary dyskinesia, primary, 40	Enrichment	E2F6	2.02
86	Gastric cancer	Enrichment	CDK4, CDKN2A	2.01
87	Polycythemia vera	Enrichment	JAK2	1.98
88	Uvula, bifid	Enrichment	UBB	1.98
89	Cleft soft palate	Enrichment	UBB	1.98
90	Breast implant-associated anaplastic large cell lymphoma	Enrichment	JAK2	1.98
91	T-cell acute lymphoblastic leukemia	Enrichment	ABL1	1.98
92	Capillary malformations, congenital	Enrichment	CCNH	1.97
93	Histiocytoid hemangioma	Enrichment	FOS	1.97
94	Hemimegalencephaly	Enrichment	AKT3	1.97
95	Breast cancer	Enrichment	AKT1, JUN	1.95
96	Primary autosomal recessive microcephaly	Enrichment	CDK6	1.93
97	Klippel-trenaunay-weber syndrome	Enrichment	CCNH	1.89
98	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	CCNH	1.89
99	Hemangioma, capillary infantile	Enrichment	CCNH	1.89
100	Basal cell carcinoma 1	Enrichment	CCNH	1.89
101	Breast adenocarcinoma	Enrichment	AKT1	1.89
102	Erythrocytosis, familial, 1	Enrichment	JAK2	1.86
103	Budd-chiari syndrome	Enrichment	JAK2	1.86
104	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	ABL1	1.86
105	Colorectal cancer	Enrichment	AKT1, CCND1	1.83
106	Capillary malformation-arteriovenous malformation 1	Enrichment	CCNH	1.83
107	Hereditary hemorrhagic telangiectasia	Enrichment	CCNH	1.83
108	Megacolon	Enrichment	AKT3	1.83
109	Myeloma, multiple	Enrichment	CCND1, CDKN2C	1.79
110	Myeloproliferative neoplasm	Enrichment	JAK2	1.76
111	Arteriovenous malformation	Enrichment	CCNH	1.72
112	Cowden syndrome	Enrichment	AKT1	1.72
113	Li-fraumeni syndrome	Enrichment	CDKN2A	1.69
114	Adrenocortical carcinoma	Enrichment	CDKN2A	1.69
115	Lung squamous cell carcinoma	Enrichment	CDKN2A	1.69
116	Myopathy, x-linked, with excessive autophagy	Enrichment	CCNH	1.67
117	Polymicrogyria	Enrichment	AKT3	1.67
118	Beckwith-wiedemann syndrome	Enrichment	CDKN1C	1.65
119	Specific learning disability	Enrichment	MAPK1	1.63
120	Leukemia, chronic myeloid	Enrichment	ABL1	1.62
121	Essential thrombocythemia	Enrichment	JAK2	1.62
122	Moyamoya angiopathy	Enrichment	ABL1	1.62
123	Williams-beuren syndrome	Enrichment	CDKN1C	1.61
124	Primary hyperaldosteronism	Enrichment	ATRX	1.60
125	Meningioma	Enrichment	AKT1	1.60
126	Leukemia, acute lymphoblastic 3	Enrichment	JAK2	1.51
127	Polycystic liver disease	Enrichment	CDC25A	1.49
128	Autosomal dominant polycystic liver disease	Enrichment	CDC25A	1.49
129	Melanoma	Enrichment	CDKN2A	1.47
130	Leukemia, acute lymphoblastic	Enrichment	CDKN2A	1.43
131	Heart, malformation of	Enrichment	MAPK1	1.42
132	Osteoporosis	Enrichment	SRC	1.32
133	Heart disease	Enrichment	ABL1	1.32
134	Undetermined early-onset epileptic encephalopathy	Enrichment	FZR1	1.10
135	Pancreatic cancer	Enrichment	CDKN2A	1.08
136	Type 2 diabetes mellitus	Enrichment	AKT2	1.07
137	Hereditary breast carcinoma	Enrichment	AKT1	1.05
138	Lung cancer	Enrichment	PPP2R1B	0.98
139	Leukemia, acute myeloid	Enrichment	JAK2	0.89
140	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	ATRX	0.84
141	Thrombocytopenia	Enrichment	SRC	0.81
142	Primary ovarian insufficiency	Enrichment	JAK2	0.73
143	Microcephaly	Enrichment	MAPK1	0.63
144	Congenital nervous system abnormality	Enrichment	ATRX	0.59
145	Nervous system disease	Enrichment	ATRX	0.59
146	Complex neurodevelopmental disorder	Enrichment	PPP2CA	0.45

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

Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)

Pathway Network for Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)

Pathway network for the Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) SuperPath

Member Pathways for Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)

Pathways in the Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) SuperPath

Gene overlap in member pathways for Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) SuperPath

Associated Genes for Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)

Associated Disorders for Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)

Disorders associated with Defective binding of RB1 mutants to E2F1,(E2F2, E2F3) SuperPath

STRING Interaction Network for Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)

Sources for Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)