Disorders of Nervous System Development

Pathway network for the Disorders of Nervous System Development SuperPath

Sources:

Reactome

Pathways in the Disorders of Nervous System Development SuperPath

#	Name	Source	Genes
1	Disorders of Nervous System Development	Reactome	CALM1 CALM2 CALM3 CAMK4 GPS2 HDAC1 HDAC3 MECP2 NCOR1 NCOR2 PRKACA SIN3A TBL1X TBL1XR1 (see all 14) (see less)
2	Disorders of Developmental Biology	Reactome	ASH2L CALM1 CALM2 CALM3 CAMK4 DPY30 GPS2 HDAC1 HDAC3 KMT2D MECP2 NCOR1 NCOR2 PRKACA RBBP5 SIN3A TBL1X TBL1XR1 WDR5 (see all 19) (see less)
3	Loss of function of MECP2 in Rett syndrome	Reactome	CALM1 CALM2 CALM3 CAMK4 GPS2 HDAC1 HDAC3 MECP2 NCOR1 NCOR2 PRKACA SIN3A TBL1X TBL1XR1 (see all 14) (see less)
4	Pervasive developmental disorders	Reactome	CALM1 CALM2 CALM3 CAMK4 GPS2 HDAC1 HDAC3 MECP2 NCOR1 NCOR2 PRKACA SIN3A TBL1X TBL1XR1 (see all 14) (see less)
5	Loss of MECP2 binding ability to the NCoR/SMRT complex	Reactome	GPS2 HDAC3 MECP2 NCOR1 NCOR2 TBL1X TBL1XR1 (see all 7) (see less)
6	Loss of phosphorylation of MECP2 at T308	Reactome	CALM1 CALM2 CALM3 CAMK4 MECP2 PRKACA (see all 6) (see less)

Gene overlap in member pathways for Disorders of Nervous System Development SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	6
2	GPS2	G Protein Pathway Suppressor 2	Protein Coding	5
3	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	5
4	TBL1X	Transducin Beta Like 1 X-Linked	Protein Coding	5
5	TBL1XR1	TBL1X/Y Related 1	Protein Coding	5
6	CALM1	Calmodulin 1	Protein Coding	5
7	CALM2	Calmodulin 2	Protein Coding	5
8	CALM3	Calmodulin 3	Protein Coding	5
9	CAMK4	Calcium/Calmodulin Dependent Protein Kinase IV	Protein Coding	5
10	HDAC3	Histone Deacetylase 3	Protein Coding	5
11	NCOR1	Nuclear Receptor Corepressor 1	Protein Coding	5
12	NCOR2	Nuclear Receptor Corepressor 2	Protein Coding	5
13	SIN3A	SIN3 Transcription Regulator Family Member A	Protein Coding	4
14	HDAC1	Histone Deacetylase 1	Protein Coding	4
15	WDR5	WD Repeat Domain 5	Protein Coding	1
16	RBBP5	RB Binding Protein 5, Histone Lysine Methyltransferase Complex Subunit	Protein Coding	1
17	KMT2D	Lysine Methyltransferase 2D	Protein Coding	1
18	DPY30	Dpy-30 Histone Methyltransferase Complex Regulatory Subunit	Protein Coding	1
19	ASH2L	ASH2 Like, Histone Lysine Methyltransferase Complex Subunit	Protein Coding	1

Disorders associated with Disorders of Nervous System Development SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Nervous system disease	Direct
2	Rett syndrome	Direct
3	Pervasive developmental disorder	Direct
4	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	6.89
5	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3	5.03
6	Long qt syndrome	Enrichment	CALM1, CALM2	3.07
7	Hypothyroidism, congenital, nongoitrous, 8	Enrichment	TBL1X	2.85
8	Branchial cleft anomalies	Enrichment	KMT2D	2.85
9	Facial hypertrichosis	Enrichment	MECP2	2.85
10	Intellectual developmental disorder, x-linked, syndromic, lubs type	Enrichment	MECP2	2.85
11	Autism x-linked 3	Enrichment	MECP2	2.85
12	Long qt syndrome 16	Enrichment	CALM3	2.85
13	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.85
14	Syndromic x-linked intellectual disability lubs type	Enrichment	MECP2	2.85
15	Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome	Enrichment	KMT2D	2.85
16	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.85
17	Long qt syndrome 15	Enrichment	CALM2	2.85
18	Chromosome 15q24 deletion syndrome	Enrichment	SIN3A	2.85
19	Myeloma, multiple	Enrichment	KMT2D, NCOR2	2.56
20	Encephalopathy, neonatal severe, due to mecp2 mutations	Enrichment	MECP2	2.55
21	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	2.55
22	Complement component c1s deficiency	Enrichment	KMT2D	2.55
23	Choanal atresia, posterior	Enrichment	KMT2D	2.55
24	Long qt syndrome 14	Enrichment	CALM1	2.55
25	Intellectual developmental disorder, x-linked, syndromic 13	Enrichment	MECP2	2.55
26	X-linked intellectual disability-psychosis-macroorchidism syndrome	Enrichment	MECP2	2.55
27	Witteveen-kolk syndrome	Enrichment	SIN3A	2.55
28	Fibrolamellar carcinoma	Enrichment	PRKACA	2.55
29	Progressive bulbar palsy	Enrichment	MECP2	2.55
30	Bruxism	Enrichment	MECP2	2.55
31	Laryngomalacia	Enrichment	MECP2	2.38
32	Pierpont syndrome	Enrichment	TBL1XR1	2.38
33	Intellectual developmental disorder, autosomal dominant 41	Enrichment	TBL1XR1	2.38
34	Autism	Enrichment	KMT2D, MECP2	2.35
35	Microtia-anotia	Enrichment	KMT2D	2.25
36	Intellectual developmental disorder, autosomal dominant 26	Enrichment	KMT2D	2.25
37	Sick sinus syndrome	Enrichment	MECP2	2.25
38	Amblyopia	Enrichment	KMT2D	2.16
39	Lymphoma	Enrichment	KMT2D	2.16
40	Angelman syndrome	Enrichment	MECP2	2.08
41	Kabuki syndrome 1	Enrichment	KMT2D	2.08
42	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	2.08
43	Congenital nervous system abnormality	Enrichment	KMT2D, MECP2	2.02
44	Focal epilepsy	Enrichment	MECP2	2.01
45	Rett syndrome, congenital variant	Enrichment	MECP2	1.95
46	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	1.95
47	Charge syndrome	Enrichment	KMT2D	1.90
48	Ellis-van creveld syndrome	Enrichment	PRKACA	1.90
49	Microcephaly	Enrichment	KMT2D, MECP2	1.90
50	Acute promyelocytic leukemia	Enrichment	TBL1XR1	1.74
51	Stereotypic movement disorder	Enrichment	MECP2	1.74
52	Male infertility with spermatogenesis disorder	Enrichment	KMT2D	1.68
53	Dandy-walker syndrome	Enrichment	KMT2D	1.63
54	Sudden infant death syndrome	Enrichment	CALM2	1.63
55	Diffuse large b-cell lymphoma	Enrichment	TBL1XR1	1.58
56	Attention deficit-hyperactivity disorder	Enrichment	MECP2	1.52
57	Strabismus	Enrichment	KMT2D	1.43
58	Lung cancer	Enrichment	KMT2D	1.36
59	Dystonia	Enrichment	MECP2	1.32
60	Non-syndromic x-linked intellectual disability	Enrichment	MECP2	1.31
61	Systemic lupus erythematosus	Enrichment	MECP2	1.27
62	Epilepsy	Enrichment	MECP2	1.26
63	Autism spectrum disorder	Enrichment	MECP2	0.85

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

Disorders of Nervous System Development

Pathway Network for Disorders of Nervous System Development

Pathway network for the Disorders of Nervous System Development SuperPath

Member Pathways for Disorders of Nervous System Development

Pathways in the Disorders of Nervous System Development SuperPath

Gene overlap in member pathways for Disorders of Nervous System Development SuperPath

Associated Genes for Disorders of Nervous System Development

Associated Disorders for Disorders of Nervous System Development

Disorders associated with Disorders of Nervous System Development SuperPath

STRING Interaction Network for Disorders of Nervous System Development

Sources for Disorders of Nervous System Development