15q11q13 copy number variation

No Pathway Network information available for 15q11q13 copy number variation

Pathways in the 15q11q13 copy number variation SuperPath

#	Name	Source	Genes
1	15q11q13 copy number variation	WikiPathways	ANKRD2 APBA2 APP CALM1 CANX CCL5 CDC42BPB CGN CHRNA7 CREBBP CXADR DNMBP ENTREP2 FAN1 FANCD2 FANCI GJA1 GJC2 GJD3 GOLGA8H GOLGA8J GOLGA8Q GOLGA8R GOLGA8T HDAC1 KAT2B KLF13 LYPD6 MITF MTMR10 MYZAP NECAB3 NSMCE3 OCLN OTUD7A RELA RIC3 SERPINH1 SIN3A SPEF1 STX1A STX1B STXBP1 TJP1 TJP2 TJP3 TRPM1 TRPM3 UBN1 (see all 49) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	GOLGA8T	Golgin A8 Family Member T	Protein Coding	1
2	GOLGA8J	Golgin A8 Family Member J	Protein Coding	1
3	LYPD6	LY6/PLAUR Domain Containing 6	Protein Coding	1
4	CDC42BPB	CDC42 Binding Protein Kinase Beta	Protein Coding	1
5	TJP2	Tight Junction Protein 2	Protein Coding	1
6	SERPINH1	Serpin Family H Member 1	Protein Coding	1
7	CANX	Calnexin	Protein Coding	1
8	CALM1	Calmodulin 1	Protein Coding	1
9	TRPM3	Transient Receptor Potential Cation Channel Subfamily M Member 3	Protein Coding	1
10	TJP1	Tight Junction Protein 1	Protein Coding	1
11	STXBP1	Syntaxin Binding Protein 1	Protein Coding	1
12	STX1A	Syntaxin 1A	Protein Coding	1
13	CCL5	C-C Motif Chemokine Ligand 5	Protein Coding	1
14	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	1
15	CGN	Cingulin	Protein Coding	1
16	GJC2	Gap Junction Protein Gamma 2	Protein Coding	1
17	NSMCE3	NSE3 Component Of SMC5/6 Complex	Protein Coding	1
18	FANCI	FA Complementation Group I	Protein Coding	1
19	KLF13	KLF Transcription Factor 13	Protein Coding	1
20	TRPM1	Transient Receptor Potential Cation Channel Subfamily M Member 1	Protein Coding	1
21	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	1
22	APP	Amyloid Beta Precursor Protein	Protein Coding	1
23	APBA2	Amyloid Beta Precursor Protein Binding Family A Member 2	Protein Coding	1
24	HDAC1	Histone Deacetylase 1	Protein Coding	1
25	TJP3	Tight Junction Protein 3	Protein Coding	1
26	GJA1	Gap Junction Protein Alpha 1	Protein Coding	1
27	SIN3A	SIN3 Transcription Regulator Family Member A	Protein Coding	1
28	FAN1	FANCD2 And FANCI Associated Nuclease 1	Protein Coding	1
29	FANCD2	FA Complementation Group D2	Protein Coding	1
30	CXADR	CXADR Cell Adhesion Molecule	Protein Coding	1
31	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	1
32	CHRNA7	Cholinergic Receptor Nicotinic Alpha 7 Subunit	Protein Coding	1
33	STX1B	Syntaxin 1B	Protein Coding	1
34	MYZAP	Myocardial Zonula Adherens Protein	Protein Coding	1
35	OCLN	Occludin	Protein Coding	1
36	OTUD7A	OTU Deubiquitinase 7A	Protein Coding	1
37	KAT2B	Lysine Acetyltransferase 2B	Protein Coding	1
38	GJD3	Gap Junction Protein Delta 3	Protein Coding	1
39	GOLGA8R	Golgin A8 Family Member R	Protein Coding	1
40	RIC3	RIC3 Acetylcholine Receptor Chaperone	Protein Coding	1
41	GOLGA8H	Golgin A8 Family Member H	Protein Coding	1
42	GOLGA8Q	Golgin A8 Family Member Q	Protein Coding	1
43	NECAB3	N-Terminal EF-Hand Calcium Binding Protein 3	Protein Coding	1
44	MTMR10	Myotubularin Related Protein 10	Protein Coding	1
45	UBN1	Ubinuclein 1	Protein Coding	1
46	ANKRD2	Ankyrin Repeat Domain 2	Protein Coding	1
47	SPEF1	Sperm Flagellar 1	Protein Coding	1
48	ENTREP2	Endosomal Transmembrane Epsin Interactor 2	Protein Coding	1
49	DNMBP	Dynamin Binding Protein	Protein Coding	1

Disorders associated with 15q11q13 copy number variation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Lung disease, immunodeficiency, and chromosome breakage syndrome	Enrichment	ENTREP2, NSMCE3	4.89
2	Interstitial nephritis, karyomegalic	Enrichment	FAN1, MTMR10	4.89
3	Autism	Enrichment	CREBBP, STX1A, STXBP1	2.65
4	Palmoplantar keratoderma and congenital alopecia 1	Enrichment	GJA1	2.44
5	Pseudo-torch syndrome 1	Enrichment	OCLN	2.44
6	Hypoplastic left heart syndrome 1	Enrichment	GJA1	2.44
7	Lymphatic malformation 3	Enrichment	GJC2	2.44
8	Deafness, autosomal dominant 51	Enrichment	TJP2	2.44
9	Oculodentodigital dysplasia	Enrichment	GJA1	2.44
10	Heterochromia iridis	Enrichment	MITF	2.44
11	Tietz albinism-deafness syndrome	Enrichment	MITF	2.44
12	Osteogenesis imperfecta, type x	Enrichment	SERPINH1	2.44
13	Craniometaphyseal dysplasia, autosomal recessive	Enrichment	GJA1	2.44
14	Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skeletal anomalies, with or without seizures	Enrichment	TRPM3	2.44
15	Oculodentodigital dysplasia, autosomal recessive	Enrichment	GJA1	2.44
16	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	Enrichment	MITF	2.44
17	Cerebral amyloid angiopathy, app-related	Enrichment	APP	2.44
18	Spastic paraplegia 44, autosomal recessive	Enrichment	GJC2	2.44
19	Erythrokeratodermia variabilis et progressiva 3	Enrichment	GJA1	2.44
20	Chilton-okur-chung neurodevelopmental syndrome	Enrichment	CDC42BPB	2.44
21	Gjc2-related late-onset primary lymphedema	Enrichment	GJC2	2.44
22	Menke-hennekam syndrome 1	Enrichment	CREBBP	2.44
23	Neurodevelopmental disorder with hypotonia and seizures	Enrichment	OTUD7A	2.44
24	Generalized epilepsy with febrile seizures plus, type 9	Enrichment	STX1B	2.44
25	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	2.44
26	Cataract 50 with or without glaucoma	Enrichment	TRPM3	2.44
27	Chromosome 15q24 deletion syndrome	Enrichment	SIN3A	2.44
28	Menke-hennekam syndrome	Enrichment	CREBBP	2.44
29	Fanconi anemia, complementation group a	Enrichment	FANCD2, FANCI	2.15
30	Cerebral amyloid angiopathy, cst3-related	Enrichment	APP	2.14
31	Thumb deformity	Enrichment	CREBBP	2.14
32	Fanconi anemia, complementation group i	Enrichment	FANCI	2.14
33	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	2.14
34	Birk-barel syndrome	Enrichment	TRPM3	2.14
35	Hallermann-streiff syndrome	Enrichment	GJA1	2.14
36	Retinal dystrophy and iris coloboma with or without cataract	Enrichment	TRPM3	2.14
37	Cholestasis, progressive familial intrahepatic, 4	Enrichment	TJP2	2.14
38	Syndactyly, type iii	Enrichment	GJA1	2.14
39	Syndactyly, type v	Enrichment	GJA1	2.14
40	Long qt syndrome 14	Enrichment	CALM1	2.14
41	Autoinflammatory disease, familial, behcet-like 3	Enrichment	RELA	2.14
42	Melanoma, cutaneous malignant 8	Enrichment	MITF	2.14
43	Cardiomyopathy, dilated, 2k	Enrichment	MYZAP	2.14
44	Craniometaphyseal dysplasia	Enrichment	GJA1	2.14
45	Rela fusion-positive ependymoma	Enrichment	RELA	2.14
46	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	2.14
47	Preterm premature rupture of the membranes	Enrichment	SERPINH1	2.14
48	Papillary renal cell carcinoma	Enrichment	MITF	2.14
49	Chromosome 15q13.3 deletion syndrome	Enrichment	CHRNA7	2.14
50	Witteveen-kolk syndrome	Enrichment	SIN3A	2.14
51	Retinal dystrophy and obesity	Enrichment	RIC3	2.14
52	9q33.3q34.11 microdeletion syndrome	Enrichment	STXBP1	2.14
53	Cataract 48	Enrichment	DNMBP	2.14
54	Waardenburg syndrome, type 2a	Enrichment	MITF	1.97
55	Pelizaeus-merzbacher disease	Enrichment	GJC2	1.97
56	Hypercholanemia, familial 1	Enrichment	TJP2	1.97
57	Leukodystrophy, hypomyelinating, 2	Enrichment	GJC2	1.97
58	Tethered spinal cord syndrome	Enrichment	CREBBP	1.97
59	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	1.97
60	Pelizeaus-merzbacher spectrum disorder	Enrichment	GJC2	1.97
61	Mulibrey nanism	Enrichment	TRPM3	1.84
62	Erythrocytosis, familial, 2	Enrichment	FANCD2	1.84
63	Developmental and epileptic encephalopathy 4	Enrichment	STXBP1	1.84
64	Imerslund-grasbeck syndrome 2	Enrichment	CDC42BPB	1.84
65	Generalized epilepsy	Enrichment	STX1B	1.84
66	Clear cell papillary renal cell carcinoma	Enrichment	MITF	1.84
67	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	MITF, TJP2	1.82
68	Spastic ataxia	Enrichment	GJC2, STXBP1	1.81
69	Fanconi anemia, complementation group d2	Enrichment	FANCD2	1.75
70	Von hippel-lindau syndrome	Enrichment	FANCD2	1.75
71	Night blindness, congenital stationary, type 1c	Enrichment	TRPM1	1.75
72	Night blindness	Enrichment	TRPM1	1.75
73	Cleft upper lip	Enrichment	GJA1	1.75
74	Branchiootorenal syndrome 1	Enrichment	TJP2	1.67
75	Rubinstein-taybi syndrome 1	Enrichment	CREBBP	1.67
76	Waardenburg syndrome, type 4a	Enrichment	MITF	1.67
77	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP	1.67
78	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	1.67
79	Megaloblastic anemia	Enrichment	CDC42BPB	1.67
80	Hypertrichosis	Enrichment	CREBBP	1.67
81	Waardenburg syndrome	Enrichment	MITF	1.67
82	Familial hypercholanemia	Enrichment	TJP2	1.67
83	Waardenburg syndrome, type 1	Enrichment	MITF	1.60
84	Mitochondrial dna depletion syndrome 4a	Enrichment	FANCI	1.60
85	Imerslund-grasbeck syndrome 1	Enrichment	CDC42BPB	1.60
86	Waardenburg syndrome, type 2e	Enrichment	MITF	1.60
87	Alzheimer's disease 1	Enrichment	APP	1.60
88	Branchiootorenal syndrome	Enrichment	TJP2	1.60
89	Early-onset autosomal dominant alzheimer disease	Enrichment	APP	1.60
90	Erythrokeratodermia variabilis et progressiva 1	Enrichment	GJA1	1.54
91	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	1.54
92	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1	1.54
93	Hypoplastic left heart syndrome	Enrichment	GJA1	1.54
94	Primary biliary cholangitis	Enrichment	TJP2	1.49
95	Melanoma	Enrichment	MITF	1.45
96	Alzheimer's disease	Enrichment	APP	1.34
97	Heart disease	Enrichment	CREBBP	1.31
98	Generalized epilepsy with febrile seizures plus	Enrichment	STX1B	1.31
99	Corpus callosum, agenesis of	Enrichment	CREBBP	1.28
100	Osteogenesis imperfecta, type iii	Enrichment	SERPINH1	1.28
101	Isolated corpus callosum agenesis	Enrichment	CREBBP	1.28
102	Rare genetic intellectual disability	Enrichment	CREBBP	1.28
103	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	1.28
104	Congenital nervous system abnormality	Enrichment	CREBBP, GJC2	1.25
105	Nervous system disease	Enrichment	CREBBP, GJC2	1.25
106	Isolated congenital microcephaly	Enrichment	OCLN	1.25
107	Autism spectrum disorder	Enrichment	CDC42BPB, STXBP1	1.23
108	Alzheimer disease, familial, 1	Enrichment	APP	1.22
109	Melanoma, cutaneous malignant 1	Enrichment	MITF	1.22
110	Cataract 44	Enrichment	DNMBP	1.22
111	Human immunodeficiency virus type 1	Enrichment	CCL5	1.20
112	Diffuse large b-cell lymphoma	Enrichment	CREBBP	1.18
113	Williams-beuren syndrome	Enrichment	STX1A	1.16
114	Congenital stationary night blindness	Enrichment	TRPM1	1.10
115	Ear malformation	Enrichment	MITF	1.08
116	Scoliosis	Enrichment	CREBBP	1.08
117	Strabismus	Enrichment	STXBP1	1.03
118	Long qt syndrome 1	Enrichment	CALM1	0.99
119	Long qt syndrome	Enrichment	CALM1	0.97
120	Non-immune hydrops fetalis	Enrichment	UBN1	0.97
121	Cystic fibrosis	Enrichment	STX1A	0.96
122	Dystonia	Enrichment	GJC2	0.92
123	Developmental and epileptic encephalopathy	Enrichment	STXBP1	0.91
124	Non-syndromic genetic deafness	Enrichment	MITF	0.91
125	Leukemia, acute myeloid	Enrichment	FANCD2	0.87
126	Nonsyndromic hearing loss	Enrichment	MITF	0.85
127	Gastric cancer	Enrichment	FANCI	0.84
128	West syndrome	Enrichment	STXBP1	0.83
129	Autosomal dominant non-syndromic intellectual disability	Enrichment	TRPM3	0.78
130	Hereditary breast ovarian cancer syndrome	Enrichment	MITF	0.74
131	Myeloma, multiple	Enrichment	CREBBP	0.74
132	Rare genetic deafness	Enrichment	MITF	0.60
133	Dilated cardiomyopathy	Enrichment	MYZAP	0.60
134	Colorectal cancer	Enrichment	FANCI	0.57
135	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	GJA1	0.56
136	Hereditary retinal dystrophy	Enrichment	RIC3, TRPM1	0.55
137	Fundus dystrophy	Enrichment	RIC3, TRPM1	0.55
138	Ovarian cancer	Enrichment	FANCD2	0.51
139	Microcephaly	Enrichment	STXBP1	0.44
140	Inherited cancer-predisposing syndrome	Enrichment	MITF	0.42

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

15q11q13 copy number variation

Pathway Network for 15q11q13 copy number variation

Member Pathways for 15q11q13 copy number variation

Pathways in the 15q11q13 copy number variation SuperPath

Associated Genes for 15q11q13 copy number variation

Associated Disorders for 15q11q13 copy number variation

Disorders associated with 15q11q13 copy number variation SuperPath

STRING Interaction Network for 15q11q13 copy number variation

Sources for 15q11q13 copy number variation