17p13.3 (YWHAE) copy number variation

No Pathway Network information available for 17p13.3 (YWHAE) copy number variation

Pathways in the 17p13.3 (YWHAE) copy number variation SuperPath

#	Name	Source	Genes
1	17p13.3 (YWHAE) copy number variation	WikiPathways	CDK5 DBH DCTN1 DCTN2 DCTN3 DCTN4 DCTN5 DCTN6 DDC DISC1 DYNC1H1 NDEL1 PAFAH1B1 PPP2CA TH YWHAB YWHAE YWHAG YWHAH YWHAQ YWHAZ (see all 21) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	DISC1	DISC1 Scaffold Protein	Protein Coding	1
2	DCTN6	Dynactin Subunit 6	Protein Coding	1
3	DCTN5	Dynactin Subunit 5	Protein Coding	1
4	DCTN4	Dynactin Subunit 4	Protein Coding	1
5	DCTN1	Dynactin Subunit 1	Protein Coding	1
6	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
7	NDEL1	NudE Neurodevelopment Protein 1 Like 1	Protein Coding	1
8	TH	Tyrosine Hydroxylase	Protein Coding	1
9	DDC	Dopa Decarboxylase	Protein Coding	1
10	CDK5	Cyclin Dependent Kinase 5	Protein Coding	1
11	DCTN2	Dynactin Subunit 2	Protein Coding	1
12	DCTN3	Dynactin Subunit 3	Protein Coding	1
13	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	1
14	YWHAQ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Theta	Protein Coding	1
15	YWHAH	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Eta	Protein Coding	1
16	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	1
17	YWHAG	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Gamma	Protein Coding	1
18	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	1
19	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	1
20	DBH	Dopamine Beta-Hydroxylase	Protein Coding	1
21	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	1

Disorders associated with 17p13.3 (YWHAE) copy number variation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Miller-dieker lissencephaly syndrome	Enrichment	PAFAH1B1, YWHAE	5.16
2	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	PAFAH1B1, YWHAE	5.16
3	Lissencephaly	Enrichment	DYNC1H1, PAFAH1B1	3.33
4	Perry syndrome	Enrichment	DCTN1	2.81
5	Lissencephaly 7 with cerebellar hypoplasia	Enrichment	CDK5	2.81
6	Neuronopathy, distal hereditary motor, autosomal dominant 14	Enrichment	DCTN1	2.81
7	Developmental and epileptic encephalopathy 56	Enrichment	YWHAG	2.81
8	Dync1h1-related disorders	Enrichment	DYNC1H1	2.81
9	Lissencephaly due to lis1 mutation	Enrichment	PAFAH1B1	2.81
10	Distal 17p13.3 microdeletion syndrome	Enrichment	YWHAE	2.81
11	Charcot-marie-tooth disease	Enrichment	DCTN1, DYNC1H1	2.74
12	Autosomal dominant non-syndromic intellectual disability	Enrichment	DYNC1H1, YWHAZ	2.57
13	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	Enrichment	DYNC1H1	2.51
14	Fanconi anemia, complementation group n	Enrichment	DCTN5	2.51
15	Segawa syndrome, autosomal recessive	Enrichment	TH	2.51
16	Lissencephaly 1	Enrichment	PAFAH1B1	2.51
17	Orthostatic hypotension 1	Enrichment	DBH	2.51
18	Schizophrenia 9	Enrichment	DISC1	2.51
19	Aromatic l-amino acid decarboxylase deficiency	Enrichment	DDC	2.51
20	Pancreatic cancer 3	Enrichment	DCTN5	2.51
21	Cortical dysplasia, complex, with other brain malformations 13	Enrichment	DYNC1H1	2.51
22	Spinal muscular atrophy with lower extremity predominant	Enrichment	DYNC1H1	2.51
23	Dopamine beta-hydroxylase deficiency	Enrichment	DBH	2.51
24	Charcot-marie-tooth disease, axonal, type 2o	Enrichment	DYNC1H1	2.51
25	Houge-janssens syndrome 3	Enrichment	PPP2CA	2.51
26	Distal hereditary motor neuropathy type 7	Enrichment	DCTN1	2.51
27	Dystonia, dopa-responsive	Enrichment	TH	2.33
28	Band heterotopia	Enrichment	PAFAH1B1	2.33
29	Breast-ovarian cancer, familial 5	Enrichment	DCTN5	2.33
30	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	YWHAZ	2.21
31	Chromosome 15q11.2 deletion syndrome	Enrichment	PAFAH1B1	2.11
32	Spinal muscular atrophy	Enrichment	DYNC1H1	2.11
33	Genetic motor neuron disease	Enrichment	DCTN1	2.11
34	Endometrial stromal sarcoma	Enrichment	YWHAE	2.11
35	Kidney clear cell sarcoma	Enrichment	YWHAE	2.03
36	Microcephaly	Enrichment	DYNC1H1, YWHAG	1.82
37	Amyotrophic lateral sclerosis 1	Enrichment	DCTN1	1.81
38	Polymicrogyria	Enrichment	DYNC1H1	1.81
39	Frontotemporal dementia 1	Enrichment	DCTN1	1.77
40	Specific learning disability	Enrichment	YWHAG	1.77
41	Short-rib thoracic dysplasia 3 with or without polydactyly	Enrichment	DYNC1H1	1.73
42	Charcot-marie-tooth disease type 4	Enrichment	DYNC1H1	1.56
43	Rasopathy	Enrichment	DDC	1.40
44	Cystic fibrosis	Enrichment	DCTN4	1.31
45	Peripheral nervous system disease	Enrichment	DYNC1H1	1.31
46	Neuropathy	Enrichment	DYNC1H1	1.31
47	Dystonia	Enrichment	TH	1.28
48	Myopathy	Enrichment	DYNC1H1	1.22
49	Hereditary breast carcinoma	Enrichment	DCTN5	1.18
50	Hereditary breast ovarian cancer syndrome	Enrichment	DCTN5	1.09
51	Undetermined early-onset epileptic encephalopathy	Enrichment	YWHAG	1.08
52	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	DCTN1	1.06
53	Autism	Enrichment	DISC1	0.98
54	Breast cancer	Enrichment	DCTN5	0.96
55	Colorectal cancer	Enrichment	DCTN5	0.90
56	Congenital nervous system abnormality	Enrichment	DYNC1H1	0.82
57	Nervous system disease	Enrichment	DYNC1H1	0.82
58	Autism spectrum disorder	Enrichment	DYNC1H1	0.81
59	Complex neurodevelopmental disorder	Enrichment	PPP2CA	0.76
60	Inherited cancer-predisposing syndrome	Enrichment	DCTN5	0.73

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

17p13.3 (YWHAE) copy number variation

Pathway Network for 17p13.3 (YWHAE) copy number variation

Member Pathways for 17p13.3 (YWHAE) copy number variation

Pathways in the 17p13.3 (YWHAE) copy number variation SuperPath

Associated Genes for 17p13.3 (YWHAE) copy number variation

Associated Disorders for 17p13.3 (YWHAE) copy number variation

Disorders associated with 17p13.3 (YWHAE) copy number variation SuperPath

STRING Interaction Network for 17p13.3 (YWHAE) copy number variation

Sources for 17p13.3 (YWHAE) copy number variation