2q11.2 copy number variation syndrome

No Pathway Network information available for 2q11.2 copy number variation syndrome

Pathways in the 2q11.2 copy number variation syndrome SuperPath

#	Name	Source	Genes
1	2q11.2 copy number variation syndrome	WikiPathways	ADRA2B ANKRD23 ANKRD39 ARID5A ASTL CIAO1 CNNM3 CNNM4 COL2A1 DUSP2 FAM178B FER1L5 ITPRIPL1 KANSL3 LMAN2L NCAPH NEURL3 SEMA4C SNRNP200 STARD7 TMEM127 (see all 21) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	LMAN2L	Lectin, Mannose Binding 2 Like	Protein Coding	1
2	STARD7	StAR Related Lipid Transfer Domain Containing 7	Protein Coding	1
3	TMEM127	Transmembrane Protein 127	Protein Coding	1
4	CNNM4	Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 4	Protein Coding	1
5	NCAPH	Non-SMC Condensin I Complex Subunit H	Protein Coding	1
6	SNRNP200	Small Nuclear Ribonucleoprotein U5 Subunit 200	Protein Coding	1
7	ANKRD23	Ankyrin Repeat Domain 23	Protein Coding	1
8	DUSP2	Dual Specificity Phosphatase 2	Protein Coding	1
9	ADRA2B	Adrenoceptor Alpha 2B	Protein Coding	1
10	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	1
11	ITPRIPL1	ITPRIP Like 1	Protein Coding	1
12	CIAO1	Cytosolic Iron-Sulfur Assembly Component 1	Protein Coding	1
13	FER1L5	Fer-1 Like Family Member 5	Protein Coding	1
14	ARID5A	AT-Rich Interaction Domain 5A	Protein Coding	1
15	KANSL3	KAT8 Regulatory NSL Complex Subunit 3	Protein Coding	1
16	SEMA4C	Semaphorin 4C	Protein Coding	1
17	FAM178B	Family With Sequence Similarity 178 Member B	Protein Coding	1
18	ANKRD39	Ankyrin Repeat Domain 39	Protein Coding	1
19	ASTL	Astacin Like Metalloendopeptidase	Protein Coding	1
20	NEURL3	Neuralized E3 Ubiquitin Protein Ligase 3	Protein Coding	1
21	CNNM3	Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 3	Protein Coding	1

Disorders associated with 2q11.2 copy number variation syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Stickler syndrome, type i	Enrichment	COL2A1	2.81
2	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	Enrichment	COL2A1	2.81
3	Jalili syndrome	Enrichment	CNNM4	2.81
4	Spondylometaphyseal dysplasia, algerian type	Enrichment	COL2A1	2.81
5	Epilepsy, familial adult myoclonic, 2	Enrichment	STARD7	2.81
6	Osteoarthritis with mild chondrodysplasia	Enrichment	COL2A1	2.81
7	Avascular necrosis of femoral head, primary, 1	Enrichment	COL2A1	2.81
8	Czech dysplasia	Enrichment	COL2A1	2.81
9	Kniest dysplasia	Enrichment	COL2A1	2.81
10	Platyspondylic lethal skeletal dysplasia, torrance type	Enrichment	COL2A1	2.81
11	Spondyloepiphyseal dysplasia, stanescu type	Enrichment	COL2A1	2.81
12	Intellectual developmental disorder, autosomal recessive 52	Enrichment	LMAN2L	2.81
13	Retinitis pigmentosa 33	Enrichment	SNRNP200	2.81
14	Achondrogenesis, type ii	Enrichment	COL2A1	2.81
15	Oocyte/zygote/embryo maturation arrest 11	Enrichment	ASTL	2.81
16	Intellectual developmental disorder, autosomal dominant 69	Enrichment	LMAN2L	2.81
17	Spondyloperipheral dysplasia	Enrichment	COL2A1	2.81
18	Stickler syndrome, type i, nonsyndromic ocular	Enrichment	COL2A1	2.81
19	Microcephaly 23, primary, autosomal recessive	Enrichment	NCAPH	2.81
20	Vitreoretinopathy with phalangeal epiphyseal dysplasia	Enrichment	COL2A1	2.81
21	Autosomal dominant rhegmatogenous retinal detachment	Enrichment	COL2A1	2.81
22	Multiple epiphyseal dysplasia with myopia and deafness	Enrichment	COL2A1	2.81
23	Hypochondrogenesis	Enrichment	COL2A1	2.81
24	Dysspondyloenchondromatosis	Enrichment	COL2A1	2.81
25	Type 2 collagen-related bone disorder	Enrichment	COL2A1	2.81
26	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	COL2A1	2.51
27	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	COL2A1	2.51
28	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Enrichment	COL2A1	2.51
29	Legg-calve-perthes disease	Enrichment	COL2A1	2.51
30	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Enrichment	COL2A1	2.51
31	Multiple mitochondrial dysfunctions syndrome 10	Enrichment	CIAO1	2.51
32	Familial avascular necrosis of the femoral head	Enrichment	COL2A1	2.51
33	Mccune-albright syndrome	Enrichment	COL2A1	2.33
34	Spondyloepiphyseal dysplasia congenita	Enrichment	COL2A1	2.33
35	Multiple epiphyseal dysplasia	Enrichment	COL2A1	2.33
36	Clear cell papillary renal cell carcinoma	Enrichment	TMEM127	2.21
37	Retinal detachment	Enrichment	COL2A1	2.11
38	Developmental dysplasia of the hip 1	Enrichment	COL2A1	2.03
39	Familial adult myoclonic epilepsy	Enrichment	ADRA2B	2.03
40	Hereditary retinal dystrophy	Enrichment	CNNM4, COL2A1, SNRNP200	2.01
41	Fundus dystrophy	Enrichment	CNNM4, COL2A1, SNRNP200	2.01
42	Multiple enchondromatosis, maffucci type	Enrichment	COL2A1	1.97
43	Marfan syndrome	Enrichment	COL2A1	1.81
44	Stickler syndrome	Enrichment	COL2A1	1.81
45	Pheochromocytoma	Enrichment	TMEM127	1.67
46	Myopia	Enrichment	COL2A1	1.64
47	Heart, malformation of	Enrichment	COL2A1	1.56
48	Neuromuscular disease	Enrichment	CIAO1	1.56
49	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	TMEM127	1.49
50	Scoliosis	Enrichment	COL2A1	1.44
51	Stargardt disease 1	Enrichment	COL2A1	1.34
52	Connective tissue disease	Enrichment	COL2A1	1.31
53	Autosomal recessive non-syndromic intellectual disability	Enrichment	LMAN2L	1.06
54	Ovarian cancer	Enrichment	TMEM127	0.84
55	Inherited cancer-predisposing syndrome	Enrichment	TMEM127	0.73
56	Retinitis pigmentosa	Enrichment	SNRNP200	0.55

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

2q11.2 copy number variation syndrome

Pathway Network for 2q11.2 copy number variation syndrome

Member Pathways for 2q11.2 copy number variation syndrome

Pathways in the 2q11.2 copy number variation syndrome SuperPath

Associated Genes for 2q11.2 copy number variation syndrome

Associated Disorders for 2q11.2 copy number variation syndrome

Disorders associated with 2q11.2 copy number variation syndrome SuperPath

STRING Interaction Network for 2q11.2 copy number variation syndrome

Sources for 2q11.2 copy number variation syndrome