Pathophysiological roles of DUX4 in FSHD1

No Pathway Network information available for Pathophysiological roles of DUX4 in FSHD1

Pathways in the Pathophysiological roles of DUX4 in FSHD1 SuperPath

#	Name	Source	Genes
1	Pathophysiological roles of DUX4 in FSHD1	WikiPathways	ADRB2 CDKN1A DUX4 EP300 ESR2 FBXO32 H3Y1 H3Y2 MYC MYF5 MYOD1 MYOG PAX7 PPARGC1A RET TRIM63 UPF1 VEGFA (see all 18) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	TRIM63	Tripartite Motif Containing 63	Protein Coding	1
2	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	1
3	RET	Ret Proto-Oncogene	Protein Coding	1
4	PAX7	Paired Box 7	Protein Coding	1
5	MYOD1	Myogenic Differentiation 1	Protein Coding	1
6	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	1
7	ESR2	Estrogen Receptor 2	Protein Coding	1
8	EP300	EP300 Lysine Acetyltransferase	Protein Coding	1
9	ADRB2	Adrenoceptor Beta 2	Protein Coding	1
10	FBXO32	F-Box Protein 32	Protein Coding	1
11	PPARGC1A	PPARG Coactivator 1 Alpha	Protein Coding	1
12	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	1
13	DUX4	Double Homeobox 4	Protein Coding	1
14	UPF1	UPF1 RNA Helicase And ATPase	Protein Coding	1
15	MYOG	Myogenin	Protein Coding	1
16	MYF5	Myogenic Factor 5	Protein Coding	1
17	H3Y1	H3.Y Histone 1	Protein Coding	1
18	H3Y2	H3.Y Histone 2	Protein Coding	1

Disorders associated with Pathophysiological roles of DUX4 in FSHD1 SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Thyroid carcinoma, familial medullary	Enrichment	ESR2, RET	5.30
2	Multiple endocrine neoplasia, type iib	Enrichment	RET	2.88
3	Cardiomyopathy, familial hypertrophic, 31	Enrichment	TRIM63	2.88
4	Microvascular complications of diabetes 1	Enrichment	VEGFA	2.88
5	Ophthalmoplegia, external, with rib and vertebral anomalies	Enrichment	MYF5	2.88
6	Ovarian dysgenesis 8	Enrichment	ESR2	2.88
7	Congenital myopathy 19	Enrichment	PAX7	2.88
8	Congenital myopathy 17	Enrichment	MYOD1	2.88
9	Thyroid cancer	Enrichment	RET	2.88
10	Gastrointestinal system disease	Enrichment	RET	2.88
11	Multiple endocrine neoplasia	Enrichment	RET	2.88
12	Hypertelorism	Enrichment	RET, UPF1	2.67
13	Burkitt lymphoma	Enrichment	MYC	2.58
14	Menke-hennekam syndrome 2	Enrichment	EP300	2.58
15	Medullary thyroid carcinoma	Enrichment	RET	2.58
16	Right atrial isomerism	Enrichment	UPF1	2.40
17	Congenital heart defects, multiple types, 6	Enrichment	UPF1	2.40
18	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	2.40
19	Gingival overgrowth	Enrichment	RET	2.40
20	Central hypoventilation syndrome, congenital, 1	Enrichment	RET	2.28
21	Transposition of the great arteries	Enrichment	UPF1	2.28
22	Haddad syndrome	Enrichment	RET	2.28
23	Colorectal cancer	Enrichment	EP300, RET	2.24
24	Multiple endocrine neoplasia, type iia	Enrichment	RET	2.18
25	Rhabdomyosarcoma 2	Enrichment	PAX7	2.18
26	Rubinstein-taybi syndrome 2	Enrichment	EP300	2.18
27	Myopathy, centronuclear, 1	Enrichment	MYOD1	2.10
28	Facioscapulohumeral muscular dystrophy 1	Enrichment	DUX4	2.10
29	Rubinstein-taybi syndrome 1	Enrichment	EP300	2.10
30	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	EP300	2.10
31	Sporadic pheochromocytoma/secreting paraganglioma	Enrichment	RET	2.10
32	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A	2.03
33	Renal hypodysplasia/aplasia 1	Enrichment	RET	1.98
34	Hypothyroidism	Enrichment	RET	1.98
35	Charge syndrome	Enrichment	EP300	1.93
36	Congenital central hypoventilation syndrome	Enrichment	RET	1.93
37	Renal agenesis, bilateral	Enrichment	RET	1.93
38	Renal hypodysplasia/aplasia 3	Enrichment	RET	1.80
39	Pheochromocytoma	Enrichment	RET	1.73
40	Polydactyly, postaxial, type a1	Enrichment	EP300	1.70
41	Rare genetic intellectual disability	Enrichment	EP300	1.70
42	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	RET	1.56
43	Hepatocellular carcinoma	Enrichment	RET	1.54
44	Precursor t-cell acute lymphoblastic leukemia	Enrichment	MYC	1.52
45	Scoliosis	Enrichment	MYF5	1.50
46	Tetralogy of fallot	Enrichment	RET	1.47
47	Strabismus	Enrichment	UPF1	1.45
48	Bladder cancer	Enrichment	CDKN1A	1.42
49	Hirschsprung disease 1	Enrichment	RET	1.42
50	Differentiated thyroid carcinoma	Enrichment	RET	1.42
51	Fetal akinesia deformation sequence 1	Enrichment	MYOD1	1.32
52	Distal arthrogryposis	Enrichment	MYOD1	1.27
53	Hypertrophic cardiomyopathy	Enrichment	TRIM63	1.26
54	Hereditary breast carcinoma	Enrichment	RET	1.25
55	Sensorineural hearing loss	Enrichment	RET	1.21
56	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	PPARGC1A	1.13
57	Breast cancer	Enrichment	RET	1.02
58	Ovarian cancer	Enrichment	RET	0.90
59	Microcephaly	Enrichment	EP300	0.82
60	Complex neurodevelopmental disorder	Enrichment	UPF1	0.82
61	Inherited cancer-predisposing syndrome	Enrichment	RET	0.79

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

Pathophysiological roles of DUX4 in FSHD1

Pathway Network for Pathophysiological roles of DUX4 in FSHD1

Member Pathways for Pathophysiological roles of DUX4 in FSHD1

Pathways in the Pathophysiological roles of DUX4 in FSHD1 SuperPath

Associated Genes for Pathophysiological roles of DUX4 in FSHD1

Associated Disorders for Pathophysiological roles of DUX4 in FSHD1

Disorders associated with Pathophysiological roles of DUX4 in FSHD1 SuperPath

STRING Interaction Network for Pathophysiological roles of DUX4 in FSHD1

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