15q25 copy number variation

No Pathway Network information available for 15q25 copy number variation

Pathways in the 15q25 copy number variation SuperPath

#	Name	Source	Genes
1	15q25 copy number variation	WikiPathways	ADAMTSL3 AGAP2 ALPK3 AP3B2 BNC1 BTBD1 C15orf40 CPEB1 DNM3 EGF FSD2 GOLGA6L4 GRM1 GRM5 HOMER2 HTT ITPR1 NMB NMBR PDE8A RAF1 RAMAC RNMT RYR1 RYR2 SEC11A SH3GL3 SHANK1 SHANK3 SLC28A1 SLC2A1 SPCS1 SPCS2 SPCS3 SYNJ1 TENT4B TM6SF1 TOP1 WDR73 WHAMM ZNF592 ZSCAN2 (see all 42) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	PDE8A	Phosphodiesterase 8A	Protein Coding	1
2	ZNF592	Zinc Finger Protein 592	Protein Coding	1
3	HOMER2	Homer Scaffold Protein 2	Protein Coding	1
4	SLC28A1	Solute Carrier Family 28 Member 1	Protein Coding	1
5	SYNJ1	Synaptojanin 1	Protein Coding	1
6	SHANK3	SH3 And Multiple Ankyrin Repeat Domains 3	Protein Coding	1
7	WDR73	WD Repeat Domain 73	Protein Coding	1
8	AP3B2	Adaptor Related Protein Complex 3 Subunit Beta 2	Protein Coding	1
9	TOP1	DNA Topoisomerase I	Protein Coding	1
10	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	1
11	CPEB1	Cytoplasmic Polyadenylation Element Binding Protein 1	Protein Coding	1
12	RYR2	Ryanodine Receptor 2	Protein Coding	1
13	RYR1	Ryanodine Receptor 1	Protein Coding	1
14	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
15	TM6SF1	Transmembrane 6 Superfamily Member 1	Protein Coding	1
16	BTBD1	BTB Domain Containing 1	Protein Coding	1
17	SHANK1	SH3 And Multiple Ankyrin Repeat Domains 1	Protein Coding	1
18	NMBR	Neuromedin B Receptor	Protein Coding	1
19	NMB	Neuromedin B	Protein Coding	1
20	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	1
21	HTT	Huntingtin	Protein Coding	1
22	GRM5	Glutamate Metabotropic Receptor 5	Protein Coding	1
23	GRM1	Glutamate Metabotropic Receptor 1	Protein Coding	1
24	DNM3	Dynamin 3	Protein Coding	1
25	EGF	Epidermal Growth Factor	Protein Coding	1
26	SPCS2	Signal Peptidase Complex Subunit 2	Protein Coding	1
27	RNMT	RNA Guanine-7 Methyltransferase	Protein Coding	1
28	FSD2	Fibronectin Type III And SPRY Domain Containing 2	Protein Coding	1
29	WHAMM	WASP Homolog Associated With Actin, Golgi Membranes And Microtubules	Protein Coding	1
30	C15orf40	Chromosome 15 Open Reading Frame 40	Protein Coding	1
31	AGAP2	ArfGAP With GTPase Domain, Ankyrin Repeat And PH Domain 2	Protein Coding	1
32	RAMAC	RNA Guanine-7 Methyltransferase Activating Subunit	Protein Coding	1
33	BNC1	Basonuclin Zinc Finger Protein 1	Protein Coding	1
34	SH3GL3	SH3 Domain Containing GRB2 Like 3, Endophilin A3	Protein Coding	1
35	GOLGA6L4	Golgin A6 Family Like 4	Protein Coding	1
36	TENT4B	Terminal Nucleotidyltransferase 4B	Protein Coding	1
37	SPCS3	Signal Peptidase Complex Subunit 3	Protein Coding	1
38	ALPK3	Alpha Kinase 3	Protein Coding	1
39	ADAMTSL3	ADAMTS Like 3	Protein Coding	1
40	ZSCAN2	Zinc Finger And SCAN Domain Containing 2	Protein Coding	1
41	SPCS1	Signal Peptidase Complex Subunit 1	Protein Coding	1
42	SEC11A	SEC11 Homolog A, Signal Peptidase Complex Subunit	Protein Coding	1

Disorders associated with 15q25 copy number variation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Galloway-mowat syndrome 1	Enrichment	WDR73, ZNF592	4.03
2	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	RYR1, RYR2	2.96
3	Developmental and epileptic encephalopathy 1	Enrichment	SLC2A1, SYNJ1	2.57
4	Noonan syndrome 5	Enrichment	RAF1	2.51
5	Hypomagnesemia 4, renal	Enrichment	EGF	2.51
6	Stomatin-deficient cryohydrocytosis with neurologic defects	Enrichment	SLC2A1	2.51
7	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	2.51
8	Deafness, autosomal dominant 68	Enrichment	HOMER2	2.51
9	Developmental and epileptic encephalopathy 53	Enrichment	SYNJ1	2.51
10	Spinocerebellar ataxia, autosomal recessive 13	Enrichment	GRM1	2.51
11	Leopard syndrome 2	Enrichment	RAF1	2.51
12	Epilepsy, idiopathic generalized 12	Enrichment	SLC2A1	2.51
13	Schizophrenia 15	Enrichment	SHANK3	2.51
14	Lopes-maciel-rodan syndrome	Enrichment	HTT	2.51
15	Spinocerebellar ataxia 44	Enrichment	GRM1	2.51
16	Uridine-cytidineuria	Enrichment	SLC28A1	2.51
17	Trigonitis	Enrichment	RAF1	2.51
18	Congenital myopathy with myasthenic-like onset	Enrichment	RYR1	2.51
19	Premature ovarian failure 16	Enrichment	BNC1	2.51
20	Mutism	Enrichment	SHANK3	2.51
21	Epilepsy with myoclonic absences	Enrichment	SLC2A1	2.51
22	Juvenile huntington disease	Enrichment	HTT	2.51
23	Chondromyxoid fibroma	Enrichment	GRM1	2.51
24	Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy	Enrichment	RYR1	2.51
25	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	2.51
26	Hereditary cryohydrocytosis with reduced stomatin	Enrichment	SLC2A1	2.51
27	Benign samaritan congenital myopathy	Enrichment	RYR1	2.51
28	Left ventricular noncompaction	Enrichment	RAF1, RYR2	2.28
29	Spinocerebellar ataxia 29	Enrichment	ITPR1	2.21
30	Malignant hyperthermia 1	Enrichment	RYR1	2.21
31	Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	Enrichment	RYR2	2.21
32	Dystonia 9	Enrichment	SLC2A1	2.21
33	Glut1 deficiency syndrome 1	Enrichment	SLC2A1	2.21
34	Parkinson disease 20, early-onset	Enrichment	SYNJ1	2.21
35	Cardiomyopathy, familial hypertrophic, 27	Enrichment	ALPK3	2.21
36	Glucose transporter type 1 deficiency syndrome	Enrichment	SLC2A1	2.21
37	Ventricular tachycardia, catecholaminergic polymorphic, 2	Enrichment	RYR2	2.21
38	King-denborough syndrome	Enrichment	RYR1	2.21
39	Phelan-mcdermid syndrome	Enrichment	SHANK3	2.21
40	Psychotic disorder	Enrichment	SHANK3	2.21
41	Exercise-induced malignant hyperthermia	Enrichment	RYR1	2.21
42	West syndrome	Enrichment	SLC2A1, SYNJ1	2.09
43	Gillespie syndrome	Enrichment	ITPR1	2.03
44	Glut1 deficiency syndrome 2	Enrichment	SLC2A1	2.03
45	Lynch syndrome 5	Enrichment	RYR1	2.03
46	Bronchopulmonary dysplasia	Enrichment	RYR1	2.03
47	Chromosome 17q23.1-q23.2 deletion syndrome	Enrichment	SLC2A1	2.03
48	Atypical juvenile parkinsonism	Enrichment	SYNJ1	2.03
49	Congenital myopathy 1a, autosomal dominant, with malignant hyperthermia	Enrichment	RYR1	1.91
50	Huntington disease	Enrichment	HTT	1.91
51	Myopathy, centronuclear, 2	Enrichment	RYR1	1.91
52	Sacral defect with anterior meningocele	Enrichment	RYR1	1.91
53	Ventricular fibrillation, paroxysmal familial, 1	Enrichment	RYR2	1.91
54	Spinocerebellar ataxia 15	Enrichment	ITPR1	1.91
55	Developmental and epileptic encephalopathy 48	Enrichment	AP3B2	1.91
56	Intellectual developmental disorder, autosomal dominant 26	Enrichment	RYR1	1.91
57	Congenital myopathy 1a	Enrichment	RYR1	1.91
58	Noonan syndrome with multiple lentigines	Enrichment	RAF1	1.91
59	Malignant hyperthermia	Enrichment	RYR1	1.91
60	Paroxysmal familial ventricular fibrillation	Enrichment	RYR2	1.91
61	Undetermined early-onset epileptic encephalopathy	Enrichment	AP3B2, SYNJ1	1.89
62	Congenital myopathy 1b, autosomal recessive	Enrichment	RYR1	1.81
63	Heart conduction disease	Enrichment	RYR2	1.81
64	Myopathy, centronuclear, 1	Enrichment	RYR1	1.73
65	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	RYR2	1.73
66	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	1.73
67	Noonan syndrome 3	Enrichment	RAF1	1.67
68	Pilomyxoid astrocytoma	Enrichment	RAF1	1.67
69	Paroxysmal dystonia	Enrichment	SLC2A1	1.67
70	Melanocytic nevus syndrome, congenital	Enrichment	RAF1	1.61
71	Multiple pterygium syndrome, lethal type	Enrichment	RYR1	1.61
72	Alternating hemiplegia of childhood	Enrichment	SLC2A1	1.61
73	Congenital muscular dystrophy	Enrichment	RYR1	1.61
74	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	RYR2	1.61
75	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	RYR2	1.61
76	Myoclonic-atonic epilepsy	Enrichment	SLC2A1	1.56
77	Adult hepatocellular carcinoma	Enrichment	EGF	1.56
78	Hydrops fetalis	Enrichment	RYR1	1.56
79	Galloway-mowat syndrome	Enrichment	WDR73	1.52
80	Cardiac conduction defect	Enrichment	RYR2	1.44
81	Early-onset parkinson's disease	Enrichment	SYNJ1	1.44
82	46 xx gonadal dysgenesis	Enrichment	BNC1	1.44
83	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	RYR2	1.44
84	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	RYR2	1.44
85	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	RYR1	1.40
86	Clubfoot	Enrichment	RYR1	1.40
87	Multiple sclerosis	Enrichment	ITPR1	1.37
88	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	RYR2	1.37
89	Congenital myopathy 4a, autosomal dominant	Enrichment	RYR1	1.34
90	Anterior segment dysgenesis	Enrichment	ITPR1	1.34
91	Noonan syndrome and noonan-related syndrome	Enrichment	RAF1	1.34
92	Beckwith-wiedemann syndrome	Enrichment	RYR1	1.27
93	Neuromuscular disease	Enrichment	RYR1	1.27
94	Congenital myopathy	Enrichment	RYR1	1.24
95	Centronuclear myopathy	Enrichment	RYR1	1.20
96	Noonan syndrome 1	Enrichment	RAF1	1.16
97	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	1.14
98	Scoliosis	Enrichment	RYR1	1.14
99	Rasopathy	Enrichment	RAF1	1.11
100	Strabismus	Enrichment	SLC2A1	1.09
101	Long qt syndrome	Enrichment	RYR2	1.04
102	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	1.01
103	Dystonia	Enrichment	WDR73	0.99
104	Fetal akinesia deformation sequence 1	Enrichment	RYR1	0.96
105	Epilepsy	Enrichment	SLC2A1	0.93
106	Myopathy	Enrichment	RYR1	0.93
107	Benign epilepsy with centrotemporal spikes	Enrichment	SLC2A1	0.92
108	Distal arthrogryposis	Enrichment	RYR1	0.91
109	Centralopathic epilepsy	Enrichment	SLC2A1	0.90
110	Nephrotic syndrome	Enrichment	WDR73	0.90
111	Hypertrophic cardiomyopathy	Enrichment	ALPK3	0.90
112	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	HOMER2	0.83
113	Spastic ataxia	Enrichment	ITPR1	0.82
114	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.82
115	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	BNC1	0.80
116	Primary ovarian insufficiency	Enrichment	BNC1	0.78
117	Dilated cardiomyopathy	Enrichment	RAF1	0.66
118	Congenital nervous system abnormality	Enrichment	WDR73	0.55
119	Nervous system disease	Enrichment	WDR73	0.55
120	Autism spectrum disorder	Enrichment	SHANK3	0.54
121	Microcephaly	Enrichment	SLC2A1	0.50
122	Complex neurodevelopmental disorder	Enrichment	HTT	0.49

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

15q25 copy number variation

Pathway Network for 15q25 copy number variation

Member Pathways for 15q25 copy number variation

Pathways in the 15q25 copy number variation SuperPath

Associated Genes for 15q25 copy number variation

Associated Disorders for 15q25 copy number variation

Disorders associated with 15q25 copy number variation SuperPath

STRING Interaction Network for 15q25 copy number variation

Sources for 15q25 copy number variation