Splicing factor NOVA regulated synaptic proteins

No Pathway Network information available for Splicing factor NOVA regulated synaptic proteins

Pathways in the Splicing factor NOVA regulated synaptic proteins SuperPath

#	Name	Source	Genes
1	Splicing factor NOVA regulated synaptic proteins	WikiPathways	ANK3 APLP2 ATP2B1 CADM1 CADM3 CAMK2G CASK CAV2 CDH2 CHL1 CLASP1 CLSTN1 DAB1 EFNA5 EPB41 EPB41L1 EPB41L2 EPB41L3 GABBR2 GABRG2 GPHN GRIK2 GRIN1 GRIN2B KCNJ6 KCNMA1 KCNQ2 LOC105371348 MAPK4 MAPK9 NCDN NEO1 NTNG1 PLCB4 PRKCZ RAP1GAP SNW1 STX2 STXBP2 (see all 39) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	GABBR2	Gamma-Aminobutyric Acid Type B Receptor Subunit 2	Protein Coding	1
2	CAV2	Caveolin 2	Protein Coding	1
3	CASK	Calcium/Calmodulin Dependent Serine Protein Kinase	Protein Coding	1
4	STXBP2	Syntaxin Binding Protein 2	Protein Coding	1
5	RAP1GAP	RAP1 GTPase Activating Protein	Protein Coding	1
6	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	1
7	PRKCZ	Protein Kinase C Zeta	Protein Coding	1
8	PLCB4	Phospholipase C Beta 4	Protein Coding	1
9	ATP2B1	ATPase Plasma Membrane Ca2+ Transporting 1	Protein Coding	1
10	KCNQ2	Potassium Voltage-Gated Channel Subfamily Q Member 2	Protein Coding	1
11	KCNMA1	Potassium Calcium-Activated Channel Subfamily M Alpha 1	Protein Coding	1
12	KCNJ6	Potassium Inwardly Rectifying Channel Subfamily J Member 6	Protein Coding	1
13	APLP2	Amyloid Beta Precursor Like Protein 2	Protein Coding	1
14	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	1
15	GRIN1	Glutamate Ionotropic Receptor NMDA Type Subunit 1	Protein Coding	1
16	GRIK2	Glutamate Ionotropic Receptor Kainate Type Subunit 2	Protein Coding	1
17	ANK3	Ankyrin 3	Protein Coding	1
18	GABRG2	Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2	Protein Coding	1
19	CADM1	Cell Adhesion Molecule 1	Protein Coding	1
20	EPB41L3	Erythrocyte Membrane Protein Band 4.1 Like 3	Protein Coding	1
21	NTNG1	Netrin G1	Protein Coding	1
22	STX2	Syntaxin 2	Protein Coding	1
23	EPB41L2	Erythrocyte Membrane Protein Band 4.1 Like 2	Protein Coding	1
24	EPB41L1	Erythrocyte Membrane Protein Band 4.1 Like 1	Protein Coding	1
25	EPB41	Erythrocyte Membrane Protein Band 4.1	Protein Coding	1
26	EFNA5	Ephrin A5	Protein Coding	1
27	DAB1	DAB Adaptor Protein 1	Protein Coding	1
28	CHL1	Cell Adhesion Molecule L1 Like	Protein Coding	1
29	GPHN	Gephyrin	Protein Coding	1
30	CDH2	Cadherin 2	Protein Coding	1
31	LOC105371348	Uncharacterized LOC105371348	RNA Gene	1
32	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	1
33	CADM3	Cell Adhesion Molecule 3	Protein Coding	1
34	MAPK4	Mitogen-Activated Protein Kinase 4	Protein Coding	1
35	NEO1	Neogenin 1	Protein Coding	1
36	CLASP1	Cytoplasmic Linker Associated Protein 1	Protein Coding	1
37	NCDN	Neurochondrin	Protein Coding	1
38	SNW1	SNW Domain Containing 1	Protein Coding	1
39	CLSTN1	Calsyntenin 1	Protein Coding	1

Disorders associated with Splicing factor NOVA regulated synaptic proteins SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Autosomal dominant non-syndromic intellectual disability	Enrichment	EPB41L1, GRIN1, GRIN2B, KCNQ2	4.91
2	Rett syndrome, congenital variant	Enrichment	GABBR2, NTNG1	3.65
3	West syndrome	Enrichment	GRIN1, GRIN2B, KCNQ2	3.57
4	Complex neurodevelopmental disorder	Enrichment	ATP2B1, GRIK2, GRIN2B, NTNG1	3.37
5	Autosomal recessive non-syndromic intellectual disability	Enrichment	GRIK2, GRIN1, NCDN	3.22
6	Early infantile developmental and epileptic encephalopathy	Enrichment	CASK, GRIN1	2.92
7	Developmental and epileptic encephalopathy 1	Enrichment	GRIN1, KCNQ2	2.63
8	Febrile seizures, familial, 8	Enrichment	GABRG2	2.54
9	Chromosome 20q11-q12 deletion syndrome	Enrichment	EPB41L1	2.54
10	Intellectual developmental disorder, autosomal recessive 37	Enrichment	ANK3	2.54
11	Developmental and epileptic encephalopathy 7	Enrichment	KCNQ2	2.54
12	Developmental and epileptic encephalopathy 27	Enrichment	GRIN2B	2.54
13	Elliptocytosis 1	Enrichment	EPB41	2.54
14	Neurodevelopmental disorder with infantile epileptic spasms	Enrichment	NCDN	2.54
15	Intellectual developmental disorder, autosomal dominant 66	Enrichment	ATP2B1	2.54
16	Neurodevelopmental disorder with impaired language and ataxia and with or without seizures	Enrichment	GRIK2	2.54
17	Developmental and epileptic encephalopathy 74	Enrichment	GABRG2	2.54
18	Neurodevelopmental disorder with poor language and loss of hand skills	Enrichment	GABBR2	2.54
19	Developmental and epileptic encephalopathy 59	Enrichment	GABBR2	2.54
20	Auriculocondylar syndrome 2a	Enrichment	PLCB4	2.54
21	Agenesis of corpus callosum, cardiac, ocular, and genital syndrome	Enrichment	CDH2	2.54
22	Intellectual developmental disorder, autosomal recessive 6	Enrichment	GRIK2	2.54
23	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	Enrichment	GRIN1	2.54
24	Familial hemophagocytic lymphohistiocytosis 5	Enrichment	STXBP2	2.54
25	Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease	Enrichment	STXBP2	2.54
26	Arrhythmogenic right ventricular dysplasia, familial, 14	Enrichment	CDH2	2.54
27	Intellectual developmental disorder, autosomal dominant 6, with or without seizures	Enrichment	GRIN2B	2.54
28	Spinocerebellar ataxia 37	Enrichment	DAB1	2.54
29	Charcot-marie-tooth disease, axonal, type 2ff	Enrichment	CADM3	2.54
30	Developmental and epileptic encephalopathy 101	Enrichment	GRIN1	2.54
31	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	Enrichment	GRIN1	2.54
32	Epilepsy, idiopathic generalized 16	Enrichment	KCNMA1	2.54
33	Cerebellar atrophy, developmental delay, and seizures	Enrichment	KCNMA1	2.54
34	Auriculocondylar syndrome 2b	Enrichment	PLCB4	2.54
35	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	2.54
36	Attention deficit-hyperactivity disorder 8	Enrichment	CDH2	2.54
37	Grin2b-related neurodevelopmental disorder	Enrichment	GRIN2B	2.54
38	Cask-related intellectual disability	Enrichment	CASK	2.54
39	Intellectual disability, autosomal dominant 8	Enrichment	GRIN1	2.54
40	Kcnq2-related disorders	Enrichment	KCNQ2	2.54
41	Cerebral palsy	Enrichment	GPHN, GRIN2B	2.25
42	Seizures, benign familial neonatal, 1	Enrichment	KCNQ2	2.24
43	Seizures, benign familial neonatal, 2	Enrichment	KCNQ2	2.24
44	Hyperekplexia 1	Enrichment	GPHN	2.24
45	Microcephalic osteodysplastic primordial dwarfism, type i	Enrichment	CLASP1	2.24
46	Lowry-wood syndrome	Enrichment	CLASP1	2.24
47	Fg syndrome 4	Enrichment	CASK	2.24
48	Seizures, benign familial infantile, 3	Enrichment	KCNQ2	2.24
49	Keppen-lubinsky syndrome	Enrichment	KCNJ6	2.24
50	Retinal dystrophy, juvenile cataracts, and short stature syndrome	Enrichment	GPHN	2.24
51	Roifman syndrome	Enrichment	CLASP1	2.24
52	Bilateral generalized polymicrogyria	Enrichment	GRIN1	2.24
53	Molybdenum cofactor deficiency, type c	Enrichment	GPHN	2.24
54	Syndromic x-linked intellectual disability	Enrichment	CASK	2.24
55	Ocular melanoma	Enrichment	PLCB4	2.24
56	Ichthyosis, congenital, autosomal recessive 10	Enrichment	KCNQ2	2.24
57	Mitochondrial complex iv deficiency, nuclear type 12	Enrichment	STXBP2	2.24
58	Rnu4atac-opathy	Enrichment	CLASP1	2.24
59	Liang-wang syndrome	Enrichment	KCNMA1	2.24
60	Self-limited neonatal epilepsy	Enrichment	KCNQ2	2.24
61	Cerebral visual impairment	Enrichment	GRIK2	2.24
62	Benign epilepsy with centrotemporal spikes	Enrichment	GABRG2, GRIN1	2.21
63	Centralopathic epilepsy	Enrichment	GABRG2, GRIN1	2.17
64	Spondyloepiphyseal dysplasia congenita	Enrichment	CLASP1	2.07
65	Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia	Enrichment	CASK	2.07
66	Paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy	Enrichment	KCNMA1	2.07
67	Leber congenital amaurosis 13	Enrichment	GPHN	2.07
68	Glycosylphosphatidylinositol biosynthesis defect 17	Enrichment	GPHN	2.07
69	Syndromic x-linked intellectual disability najm type	Enrichment	CASK	2.07
70	Cerebellar disease	Enrichment	CASK	2.07
71	Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities	Enrichment	ATP2B1	2.07
72	Arachnoid cyst	Enrichment	GPHN	2.07
73	Undetermined early-onset epileptic encephalopathy	Enrichment	GABBR2, GABRG2	1.95
74	Astigmatism	Enrichment	GRIN2B	1.94
75	Auriculocondylar syndrome 1	Enrichment	PLCB4	1.94
76	Tobacco addiction	Enrichment	GABBR2	1.94
77	Macular dystrophy with or without cone dysfunction	Enrichment	GPHN	1.94
78	Autosomal dominant nocturnal frontal lobe epilepsy	Enrichment	GABRG2	1.94
79	Hereditary elliptocytosis	Enrichment	EPB41	1.94
80	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	CASK	1.84
81	Hemophagocytic lymphohistiocytosis, familial, 1	Enrichment	STXBP2	1.84
82	Hyperekplexia	Enrichment	GPHN	1.84
83	Self-limited infantile epilepsy	Enrichment	KCNQ2	1.84
84	Sleep disorder	Enrichment	GRIN2B	1.84
85	Melanoma, uveal	Enrichment	PLCB4	1.77
86	Pierre robin syndrome	Enrichment	ATP2B1	1.77
87	Anxiety	Enrichment	GPHN	1.77
88	Childhood absence epilepsy	Enrichment	GABRG2	1.77
89	Autism	Enrichment	ATP2B1, CAMK2G	1.74
90	Rett syndrome	Enrichment	GABBR2	1.70
91	Lennox-gastaut syndrome	Enrichment	GABRG2	1.64
92	Developmental and epileptic encephalopathy 14	Enrichment	KCNQ2	1.59
93	Dravet syndrome	Enrichment	GABRG2	1.55
94	Epicanthus	Enrichment	KCNQ2	1.47
95	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	ATP2B1	1.43
96	Clubfoot	Enrichment	ATP2B1	1.43
97	Chromosome 1p36 deletion syndrome	Enrichment	PRKCZ	1.43
98	Congenital nervous system abnormality	Enrichment	ANK3, CASK	1.43
99	Nervous system disease	Enrichment	ANK3, CASK	1.43
100	Autism spectrum disorder	Enrichment	GRIN2B, KCNMA1	1.41
101	Medulloblastoma	Enrichment	ANK3	1.40
102	Periventricular nodular heterotopia	Enrichment	ATP2B1	1.40
103	Generalized epilepsy with febrile seizures plus	Enrichment	GABRG2	1.40
104	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	CDH2	1.40
105	Corpus callosum, agenesis of	Enrichment	CDH2	1.37
106	Isolated corpus callosum agenesis	Enrichment	CDH2	1.37
107	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CDH2	1.37
108	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Enrichment	CASK	1.35
109	Isolated congenital microcephaly	Enrichment	CASK	1.35
110	Microcephaly	Enrichment	CASK, GRIN2B	1.31
111	Arteriovenous malformations of the brain	Enrichment	CDH2	1.27
112	Craniosynostosis	Enrichment	GRIN2B	1.25
113	Mitochondrial complex iv deficiency, nuclear type 1	Enrichment	STXBP2	1.21
114	Autoinflammatory disease	Enrichment	STXBP2	1.18
115	Scoliosis	Enrichment	GRIN2B	1.18
116	Auditory neuropathy	Enrichment	CDH2	1.14
117	Stargardt disease 1	Enrichment	GPHN	1.08
118	Dystonia	Enrichment	CASK	1.02
119	Eye disease	Enrichment	GPHN	1.02
120	Non-syndromic x-linked intellectual disability	Enrichment	CASK	1.01
121	Developmental and epileptic encephalopathy	Enrichment	KCNQ2	1.01
122	Epilepsy	Enrichment	GRIN2B	0.96
123	Spastic ataxia	Enrichment	DAB1	0.85
124	Cone-rod dystrophy 2	Enrichment	GPHN	0.75
125	Leber plus disease	Enrichment	GPHN	0.62
126	Retinitis pigmentosa	Enrichment	GPHN	0.34
127	Hereditary retinal dystrophy	Enrichment	GPHN	0.24
128	Fundus dystrophy	Enrichment	GPHN	0.24

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

Splicing factor NOVA regulated synaptic proteins

Pathway Network for Splicing factor NOVA regulated synaptic proteins

Member Pathways for Splicing factor NOVA regulated synaptic proteins

Pathways in the Splicing factor NOVA regulated synaptic proteins SuperPath

Associated Genes for Splicing factor NOVA regulated synaptic proteins

Associated Disorders for Splicing factor NOVA regulated synaptic proteins

Disorders associated with Splicing factor NOVA regulated synaptic proteins SuperPath

STRING Interaction Network for Splicing factor NOVA regulated synaptic proteins

Sources for Splicing factor NOVA regulated synaptic proteins