13q12.12 copy number variation

No Pathway Network information available for 13q12.12 copy number variation

Pathways in the 13q12.12 copy number variation SuperPath

#	Name	Source	Genes
1	13q12.12 copy number variation	WikiPathways	ADIPOQ ATXN1 C1QTNF9 C1QTNF9B CDC42 DAG1 DMD DTNA FLNC LINGO1 MAG MAPK8 MAPK9 MIPEP RAC1 RHOA RTN4 RTN4R SACS SGCA SGCB SGCD SGCG SNTA1 SNTB1 SPATA13 SSPN TNFRSF19 TRAF1 TRAF2 TRAF3 TRAF5 (see all 32) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	CDC42	Cell Division Cycle 42	Protein Coding	1
2	ADIPOQ	Adiponectin, C1Q And Collagen Domain Containing	Protein Coding	1
3	LINGO1	Leucine Rich Repeat And Ig Domain Containing 1	Protein Coding	1
4	SSPN	Sarcospan	Protein Coding	1
5	TRAF3	TNF Receptor Associated Factor 3	Protein Coding	1
6	TRAF1	TNF Receptor Associated Factor 1	Protein Coding	1
7	SNTA1	Syntrophin Alpha 1	Protein Coding	1
8	RTN4R	Reticulon 4 Receptor	Protein Coding	1
9	SGCG	Sarcoglycan Gamma	Protein Coding	1
10	SGCD	Sarcoglycan Delta	Protein Coding	1
11	SGCB	Sarcoglycan Beta	Protein Coding	1
12	SGCA	Sarcoglycan Alpha	Protein Coding	1
13	ATXN1	Ataxin 1	Protein Coding	1
14	RAC1	Rac Family Small GTPase 1	Protein Coding	1
15	RTN4	Reticulon 4	Protein Coding	1
16	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	1
17	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	1
18	TNFRSF19	TNF Receptor Superfamily Member 19	Protein Coding	1
19	MIPEP	Mitochondrial Intermediate Peptidase	Protein Coding	1
20	MAG	Myelin Associated Glycoprotein	Protein Coding	1
21	RHOA	Ras Homolog Family Member A	Protein Coding	1
22	SACS	Sacsin Molecular Chaperone	Protein Coding	1
23	FLNC	Filamin C	Protein Coding	1
24	DTNA	Dystrobrevin Alpha	Protein Coding	1
25	DMD	Dystrophin	Protein Coding	1
26	DAG1	Dystroglycan 1	Protein Coding	1
27	TRAF5	TNF Receptor Associated Factor 5	Protein Coding	1
28	TRAF2	TNF Receptor Associated Factor 2	Protein Coding	1
29	SNTB1	Syntrophin Beta 1	Protein Coding	1
30	C1QTNF9B	C1q And TNF Related 9B	Protein Coding	1
31	C1QTNF9	C1q And TNF Related 9	Protein Coding	1
32	SPATA13	Spermatogenesis Associated 13	Protein Coding	1

Disorders associated with 13q12.12 copy number variation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Autosomal recessive limb-girdle muscular dystrophy	Enrichment	SGCA, SGCB, SGCD, SGCG	7.02
2	Dilated cardiomyopathy	Enrichment	DMD, DTNA, FLNC, SGCB, SGCD	5.95
3	Muscular dystrophy	Enrichment	DMD, SGCA, SGCD	4.63
4	Creatine phosphokinase, elevated serum	Enrichment	DAG1, DMD	3.20
5	Isolated elevated serum creatine phosphokinase levels	Enrichment	DAG1, DMD	3.20
6	Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and impaired intellectual development	Enrichment	SACS	2.63
7	Muscular dystrophy, limb-girdle, autosomal recessive 6	Enrichment	SGCD	2.63
8	Muscular dystrophy, becker type	Enrichment	DMD	2.63
9	Muscular dystrophy-dystroglycanopathy , type a, 9	Enrichment	DAG1	2.63
10	Muscular dystrophy, limb-girdle, autosomal recessive 5	Enrichment	SGCG	2.63
11	Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2	Enrichment	DTNA	2.63
12	Cardiomyopathy, dilated, 3b	Enrichment	DMD	2.63
13	Cardiomyopathy, dilated, 1l	Enrichment	SGCD	2.63
14	Immunodeficiency 132a	Enrichment	TRAF3	2.63
15	Immunodeficiency 132b	Enrichment	TRAF3	2.63
16	Left ventricular noncompaction 1	Enrichment	DTNA	2.63
17	Autosomal recessive limb-girdle muscular dystrophy type 2c	Enrichment	SGCG	2.63
18	Long qt syndrome 12	Enrichment	SNTA1	2.63
19	Muscular dystrophy-dystroglycanopathy , type c, 9	Enrichment	DAG1	2.63
20	Intellectual developmental disorder, autosomal recessive 64	Enrichment	LINGO1	2.63
21	Combined oxidative phosphorylation deficiency 31	Enrichment	MIPEP	2.63
22	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	2.63
23	Spastic paraplegia 75, autosomal recessive	Enrichment	MAG	2.63
24	Takenouchi-kosaki syndrome	Enrichment	CDC42	2.63
25	Autosomal recessive limb-girdle muscular dystrophy type 2f	Enrichment	SGCD	2.63
26	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	2.63
27	Symptomatic form of muscular dystrophy of duchenne and becker in female carriers	Enrichment	DMD	2.63
28	Qualitative or quantitative defects of sarcoglycan	Enrichment	SGCA	2.63
29	Nocarh syndrome	Enrichment	CDC42	2.63
30	Duchenne and becker muscular dystrophy	Enrichment	DMD	2.63
31	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	Enrichment	DAG1	2.63
32	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	2.63
33	Qualitative or quantitative defects of dystrophin	Enrichment	DMD	2.63
34	Autosomal recessive spastic ataxia	Enrichment	SACS	2.63
35	Familial hypertrophic cardiomyopathy	Enrichment	DMD, FLNC	2.57
36	Left ventricular noncompaction	Enrichment	DTNA, MIPEP	2.51
37	Spinocerebellar ataxia 1	Enrichment	ATXN1	2.33
38	Muscular dystrophy, limb-girdle, autosomal recessive 4	Enrichment	SGCB	2.33
39	Muscular dystrophy, limb-girdle, autosomal recessive 3	Enrichment	SGCA	2.33
40	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	2.33
41	Autosomal recessive limb-girdle muscular dystrophy type 2d	Enrichment	SGCA	2.33
42	Cardiovascular system disease	Enrichment	FLNC	2.33
43	Immune system disease	Enrichment	CDC42	2.33
44	Qualitative or quantitative defects of beta-sarcoglycan	Enrichment	SGCB	2.33
45	Glycoproteinosis	Enrichment	SGCB	2.33
46	Familial isolated dilated cardiomyopathy	Enrichment	DMD, SGCD	2.16
47	Spastic ataxia, charlevoix-saguenay type	Enrichment	SACS	2.15
48	Myopathy, myofibrillar, 5	Enrichment	FLNC	2.15
49	Muscular dystrophy, duchenne type	Enrichment	DMD	2.15
50	Charcot-marie-tooth disease, x-linked dominant, 1	Enrichment	SACS	2.15
51	Adiponectin deficiency	Enrichment	ADIPOQ	2.15
52	Myopathy, distal, 4	Enrichment	FLNC	2.15
53	Schizophrenia	Enrichment	DMD, RTN4R	2.07
54	Cardiomyopathy, familial hypertrophic, 26	Enrichment	FLNC	2.03
55	Atrial fibrillation	Enrichment	SNTA1	2.03
56	Hereditary ataxia	Enrichment	SACS	2.03
57	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42	2.03
58	Hemifacial hyperplasia	Enrichment	FLNC	1.93
59	Heart conduction disease	Enrichment	FLNC	1.93
60	Herpes simplex virus encephalitis	Enrichment	TRAF3	1.93
61	Hemihyperplasia, isolated	Enrichment	RHOA	1.85
62	Inherited arrhythmogenic cardiomyopathy	Enrichment	FLNC	1.85
63	Meniere disease	Enrichment	DTNA	1.79
64	Myofibrillar myopathy	Enrichment	FLNC	1.79
65	Congenital hydrocephalus	Enrichment	SGCD	1.79
66	Familial isolated restrictive cardiomyopathy	Enrichment	FLNC	1.79
67	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	1.68
68	Nemaline myopathy	Enrichment	FLNC	1.63
69	Pectus excavatum	Enrichment	DMD	1.59
70	Atrial heart septal defect	Enrichment	DMD	1.59
71	Interatrial communication	Enrichment	DMD	1.59
72	Cardiac conduction defect	Enrichment	FLNC	1.55
73	Muscular dystrophy, limb-girdle, autosomal recessive 2	Enrichment	SGCB	1.55
74	Restrictive cardiomyopathy	Enrichment	FLNC	1.55
75	Walker-warburg syndrome	Enrichment	DAG1	1.49
76	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	FLNC	1.43
77	Beckwith-wiedemann syndrome	Enrichment	DMD	1.38
78	Neuromuscular disease	Enrichment	SGCD	1.38
79	Patent foramen ovale	Enrichment	FLNC	1.38
80	Cardiomyopathy, dilated, 1a	Enrichment	FLNC	1.31
81	Multisystem inflammatory syndrome in children	Enrichment	TRAF3	1.30
82	Cardiomyopathy, familial hypertrophic, 1	Enrichment	FLNC	1.26
83	Tetralogy of fallot	Enrichment	FLNC	1.22
84	Long qt syndrome 1	Enrichment	SNTA1	1.16
85	Long qt syndrome	Enrichment	SNTA1	1.15
86	Fanconi anemia, complementation group a	Enrichment	DMD	1.10
87	Non-syndromic x-linked intellectual disability	Enrichment	DMD	1.09
88	Myopathy	Enrichment	DMD	1.04
89	Hereditary spastic paraplegia	Enrichment	SACS	1.02
90	Spastic ataxia	Enrichment	FLNC	0.93
91	Myeloma, multiple	Enrichment	TRAF5	0.91
92	Autism	Enrichment	DMD	0.80
93	Colorectal cancer	Enrichment	DMD	0.73

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

13q12.12 copy number variation

Pathway Network for 13q12.12 copy number variation

Member Pathways for 13q12.12 copy number variation

Pathways in the 13q12.12 copy number variation SuperPath

Associated Genes for 13q12.12 copy number variation

Associated Disorders for 13q12.12 copy number variation

Disorders associated with 13q12.12 copy number variation SuperPath

STRING Interaction Network for 13q12.12 copy number variation

Sources for 13q12.12 copy number variation