10q22q23 copy number variation

No Pathway Network information available for 10q22q23 copy number variation

Pathways in the 10q22q23 copy number variation SuperPath

#	Name	Source	Genes
1	10q22q23 copy number variation	WikiPathways	ACTN2 ADAM10 ADIRF AFG3L2 BMP2 BMPR1A BUB1B CCSER2 CDHR1 CEBPA DYDC1 DYDC2 ERBB4 FAM25A GHITM GLUD1 GPR15 GPR15LG GRID1 LDB3 LRIT1 LRIT2 MAD2L2 MAS1 MAT1A MMRN2 NFKB1 NRG3 OPN4 PDS5A PDS5B PPARG PRXL2A RAD21 RGR SF3B4 SH2D4B SH3GL3 SHLD1 SHLD2 SHLD3 SIRT4 SMC1A SMC3 SNCG STAG1 SUSD2 TNFSF11 TSPAN14 VEGFA WAPL ZMYND11 (see all 52) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	CDHR1	Cadherin Related Family Member 1	Protein Coding	1
2	SMC3	Structural Maintenance Of Chromosomes 3	Protein Coding	1
3	ACTN2	Actinin Alpha 2	Protein Coding	1
4	TNFSF11	TNF Superfamily Member 11	Protein Coding	1
5	SMC1A	Structural Maintenance Of Chromosomes 1A	Protein Coding	1
6	TSPAN14	Tetraspanin 14	Protein Coding	1
7	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	1
8	BUB1B	BUB1 Mitotic Checkpoint Serine/Threonine Kinase B	Protein Coding	1
9	SNCG	Synuclein Gamma	Protein Coding	1
10	BMPR1A	Bone Morphogenetic Protein Receptor Type 1A	Protein Coding	1
11	BMP2	Bone Morphogenetic Protein 2	Protein Coding	1
12	RGR	Retinal G Protein Coupled Receptor	Protein Coding	1
13	RAD21	RAD21 Cohesin Complex Component	Protein Coding	1
14	PPARG	Peroxisome Proliferator Activated Receptor Gamma	Protein Coding	1
15	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
16	MAT1A	Methionine Adenosyltransferase 1A	Protein Coding	1
17	MAS1	MAS1 Proto-Oncogene, G Protein-Coupled Receptor	Protein Coding	1
18	GRID1	Glutamate Ionotropic Receptor Delta Type Subunit 1	Protein Coding	1
19	GLUD1	Glutamate Dehydrogenase 1	Protein Coding	1
20	SIRT4	Sirtuin 4	Protein Coding	1
21	PDS5A	PDS5 Cohesin Associated Factor A	Protein Coding	1
22	ERBB4	Erb-B2 Receptor Tyrosine Kinase 4	Protein Coding	1
23	LDB3	LIM Domain Binding 3	Protein Coding	1
24	AFG3L2	AFG3 Like Matrix AAA Peptidase Subunit 2	Protein Coding	1
25	ZMYND11	Zinc Finger MYND-Type Containing 11	Protein Coding	1
26	NRG3	Neuregulin 3	Protein Coding	1
27	CEBPA	CCAAT Enhancer Binding Protein Alpha	Protein Coding	1
28	MAD2L2	Mitotic Arrest Deficient 2 Like 2	Protein Coding	1
29	STAG1	STAG1 Cohesin Complex Component	Protein Coding	1
30	SF3B4	Splicing Factor 3b Subunit 4	Protein Coding	1
31	ADAM10	ADAM Metallopeptidase Domain 10	Protein Coding	1
32	SHLD1	Shieldin Complex Subunit 1	Protein Coding	1
33	OPN4	Opsin 4	Protein Coding	1
34	DYDC2	DPY30 Domain Containing 2	Protein Coding	1
35	PRXL2A	Peroxiredoxin Like 2A	Protein Coding	1
36	DYDC1	DPY30 Domain Containing 1	Protein Coding	1
37	SHLD3	Shieldin Complex Subunit 3	Protein Coding	1
38	ADIRF	Adipogenesis Regulatory Factor	Protein Coding	1
39	MMRN2	Multimerin 2	Protein Coding	1
40	SH3GL3	SH3 Domain Containing GRB2 Like 3, Endophilin A3	Protein Coding	1
41	FAM25A	Family With Sequence Similarity 25 Member A	Protein Coding	1
42	SUSD2	Sushi Domain Containing 2	Protein Coding	1
43	SHLD2	Shieldin Complex Subunit 2	Protein Coding	1
44	CCSER2	Coiled-Coil Serine Rich Protein 2	Protein Coding	1
45	GPR15LG	G Protein-Coupled Receptor 15 Ligand	Protein Coding	1
46	SH2D4B	SH2 Domain Containing 4B	Protein Coding	1
47	LRIT2	Leucine Rich Repeat, Ig-Like And Transmembrane Domains 2	Protein Coding	1
48	GPR15	G Protein-Coupled Receptor 15	Protein Coding	1
49	GHITM	Growth Hormone Inducible Transmembrane Protein	Protein Coding	1
50	LRIT1	Leucine Rich Repeat, Ig-Like And Transmembrane Domains 1	Protein Coding	1
51	WAPL	WAPL Cohesin Release Factor	Protein Coding	1
52	PDS5B	PDS5 Cohesin Associated Factor B	Protein Coding	1

Disorders associated with 10q22q23 copy number variation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Cornelia de lange syndrome 1	Enrichment	RAD21, SMC1A, SMC3	5.36
2	Cornelia de lange syndrome	Enrichment	RAD21, SMC1A, SMC3	5.36
3	Wiedemann-steiner syndrome	Enrichment	SMC1A, SMC3	3.67
4	Acrofacial dysostosis syndrome of rodriguez	Enrichment	SF3B4	2.42
5	Developmental and epileptic encephalopathy 85 with or without midline brain defects	Enrichment	SMC1A	2.42
6	Cornelia de lange syndrome 3 with or without midline brain defects	Enrichment	SMC3	2.42
7	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	Enrichment	ACTN2	2.42
8	Polyposis syndrome, hereditary mixed, 2	Enrichment	BMPR1A	2.42
9	Cone-rod dystrophy 15	Enrichment	CDHR1	2.42
10	Spastic ataxia 5, autosomal recessive	Enrichment	AFG3L2	2.42
11	Premature chromatid separation trait	Enrichment	BUB1B	2.42
12	Cornelia de lange syndrome 4 with or without midline brain defects	Enrichment	RAD21	2.42
13	Fanconi anemia, complementation group v	Enrichment	MAD2L2	2.42
14	Congenital myopathy 8	Enrichment	ACTN2	2.42
15	Cardiomyopathy, dilated, 2l	Enrichment	LDB3	2.42
16	Spinocerebellar ataxia 28	Enrichment	AFG3L2	2.42
17	Alzheimer disease 18	Enrichment	ADAM10	2.42
18	Microvascular complications of diabetes 1	Enrichment	VEGFA	2.42
19	Hyperinsulinemic hypoglycemia, familial, 6	Enrichment	GLUD1	2.42
20	Intellectual developmental disorder, autosomal dominant 47	Enrichment	STAG1	2.42
21	Mungan syndrome	Enrichment	RAD21	2.42
22	Retinitis pigmentosa 44	Enrichment	RGR	2.42
23	Amyotrophic lateral sclerosis 19	Enrichment	ERBB4	2.42
24	Reticulate acropigmentation of kitamura	Enrichment	ADAM10	2.42
25	Spastic ataxia 5	Enrichment	AFG3L2	2.42
26	20p12.3 microdeletion syndrome	Enrichment	BMP2	2.42
27	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	Enrichment	BMP2	2.42
28	Myopathy, distal, 6, adult-onset, autosomal dominant	Enrichment	ACTN2	2.42
29	Pparg-associated congenital generalized lipodystrophy	Enrichment	PPARG	2.42
30	Acute myeloid leukemia with mutated cebpa	Enrichment	CEBPA	2.42
31	Familial hypertrophic cardiomyopathy	Enrichment	ACTN2, LDB3	2.15
32	Acrofacial dysostosis 1, nager type	Enrichment	SF3B4	2.12
33	Carotid intimal medial thickness 1	Enrichment	PPARG	2.12
34	Cornelia de lange syndrome 2	Enrichment	SMC1A	2.12
35	Myopathy, myofibrillar, 4	Enrichment	LDB3	2.12
36	Methionine adenosyltransferase i/iii deficiency	Enrichment	MAT1A	2.12
37	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	2.12
38	Osteopetrosis, autosomal recessive 2	Enrichment	TNFSF11	2.12
39	Glycogen storage disease iii	Enrichment	AFG3L2	2.12
40	Optic atrophy 12	Enrichment	AFG3L2	2.12
41	Craniosynostosis 7	Enrichment	BMP2	2.12
42	Hereditary mixed polyposis syndrome	Enrichment	BMPR1A	2.12
43	Familial partial lipodystrophy	Enrichment	PPARG	2.12
44	Common variable immunodeficiency 12	Enrichment	NFKB1	2.12
45	Juvenile polyposis of infancy	Enrichment	BMPR1A	2.12
46	Methionine adenosyltransferase deficiency	Enrichment	MAT1A	2.12
47	Left ventricular noncompaction	Enrichment	ACTN2, LDB3	2.10
48	Juvenile polyposis syndrome	Enrichment	BMPR1A	1.94
49	Cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction	Enrichment	LDB3	1.94
50	Transposition of the great arteries, dextro-looped	Enrichment	BMP2	1.94
51	Cone-rod dystrophy 12	Enrichment	CDHR1	1.94
52	Renu syndrome	Enrichment	SIRT4	1.94
53	Intrinsic cardiomyopathy	Enrichment	ACTN2	1.94
54	Cerebellar disease	Enrichment	AFG3L2	1.94
55	Intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities	Enrichment	ZMYND11	1.94
56	Optic atrophy plus syndrome	Enrichment	AFG3L2, CDHR1	1.91
57	Trichorhinophalangeal syndrome, type ii	Enrichment	RAD21	1.82
58	Brachydactyly, type a2	Enrichment	BMP2	1.82
59	Dowling-degos disease 1	Enrichment	ADAM10	1.82
60	Lipodystrophy, familial partial, type 3	Enrichment	PPARG	1.82
61	Leptin deficiency or dysfunction	Enrichment	PPARG	1.82
62	Congenital generalized lipodystrophy	Enrichment	PPARG	1.82
63	Autosomal recessive osteopetrosis	Enrichment	TNFSF11	1.82
64	Familial isolated dilated cardiomyopathy	Enrichment	ACTN2, LDB3	1.76
65	Mosaic variegated aneuploidy syndrome 1	Enrichment	BUB1B	1.72
66	Ventricular septal defect 1	Enrichment	BMP2	1.72
67	Inherited acute myeloid leukemia	Enrichment	CEBPA	1.72
68	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	CEBPA	1.72
69	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	BMPR1A	1.72
70	Atrial septal defect 1	Enrichment	BMP2	1.64
71	Hyperinsulinemic hypoglycemia, familial, 1	Enrichment	GLUD1	1.64
72	Nonsyndromic genetic hyperinsulinism	Enrichment	GLUD1	1.64
73	Common variable immunodeficiency	Enrichment	NFKB1	1.58
74	Myofibrillar myopathy	Enrichment	LDB3	1.58
75	Hemochromatosis, type 1	Enrichment	BMP2	1.52
76	Rett syndrome, congenital variant	Enrichment	SMC1A	1.52
77	Mosaic variegated aneuploidy syndrome	Enrichment	BUB1B	1.52
78	Choreatic disease	Enrichment	AFG3L2	1.52
79	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	1.42
80	Familial colorectal cancer type x	Enrichment	BMPR1A	1.38
81	Colorectal cancer	Enrichment	BUB1B, PPARG	1.36
82	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	LDB3	1.35
83	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	LDB3	1.35
84	Nk-cell enteropathy	Enrichment	ERBB4	1.31
85	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	LDB3	1.28
86	Ovarian cancer	Enrichment	BMPR1A, BUB1B	1.24
87	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	ACTN2	1.22
88	Gliosarcoma	Enrichment	PPARG	1.22
89	Giant cell glioblastoma	Enrichment	PPARG	1.20
90	Neuromuscular disease	Enrichment	LDB3	1.17
91	Semilobar holoprosencephaly	Enrichment	SMC1A	1.17
92	Inherited cancer-predisposing syndrome	Enrichment	BMPR1A, CEBPA	1.04
93	Hirschsprung disease 1	Enrichment	NRG3	0.98
94	Differentiated thyroid carcinoma	Enrichment	PPARG	0.98
95	Fanconi anemia, complementation group a	Enrichment	MAD2L2	0.90
96	Dystonia	Enrichment	AFG3L2	0.90
97	Leukemia, acute myeloid	Enrichment	CEBPA	0.85
98	Type 2 diabetes mellitus	Enrichment	PPARG	0.83
99	Hypertrophic cardiomyopathy	Enrichment	ACTN2	0.82
100	Sensorineural hearing loss	Enrichment	AFG3L2	0.77
101	Body mass index quantitative trait locus 11	Enrichment	PPARG	0.76
102	Autosomal dominant non-syndromic intellectual disability	Enrichment	ERBB4	0.76
103	Spastic ataxia	Enrichment	AFG3L2	0.73
104	Retinitis pigmentosa	Enrichment	CDHR1, RGR	0.71
105	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	ERBB4	0.70
106	Cone-rod dystrophy 2	Enrichment	CDHR1	0.64
107	Dilated cardiomyopathy	Enrichment	ACTN2	0.58
108	Hereditary retinal dystrophy	Enrichment	CDHR1, RGR	0.51
109	Fundus dystrophy	Enrichment	CDHR1, RGR	0.51
110	Leber plus disease	Enrichment	CDHR1	0.51
111	Congenital nervous system abnormality	Enrichment	SMC1A	0.47
112	Nervous system disease	Enrichment	SMC1A	0.47
113	Autism spectrum disorder	Enrichment	SMC3	0.46
114	Microcephaly	Enrichment	SMC1A	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

10q22q23 copy number variation

Pathway Network for 10q22q23 copy number variation

Member Pathways for 10q22q23 copy number variation

Pathways in the 10q22q23 copy number variation SuperPath

Associated Genes for 10q22q23 copy number variation

Associated Disorders for 10q22q23 copy number variation

Disorders associated with 10q22q23 copy number variation SuperPath

STRING Interaction Network for 10q22q23 copy number variation

Sources for 10q22q23 copy number variation