2q13 copy number variation syndrome

No Pathway Network information available for 2q13 copy number variation syndrome

Pathways in the 2q13 copy number variation syndrome SuperPath

#	Name	Source	Genes
1	2q13 copy number variation syndrome	WikiPathways	ACOXL ANAPC1 BCL2L11 CHCHD5 CKAP2L FBLN7 IL1A IL1B IL1F10 IL1RN IL36A IL36B IL36G IL36RN IL37 MERTK NT5DC4 PLCG2 POLR1A POLR1B POLR1C POLR1D POLR1E POLR1F POLR1G POLR1H POLR2E POLR2F POLR2H POLR2K POLR2L PSD4 RGPD8 RN7SL297P RNU6-1180P SLC20A1 STAT1 TMEM87B TTL ZC3H6 ZC3H8 (see all 41) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	POLR1C	RNA Polymerase I And III Subunit C	Protein Coding	1
2	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	1
3	SLC20A1	Solute Carrier Family 20 Member 1	Protein Coding	1
4	ACOXL	Acyl-CoA Oxidase Like	Protein Coding	1
5	PLCG2	Phospholipase C Gamma 2	Protein Coding	1
6	POLR1D	RNA Polymerase I And III Subunit D	Protein Coding	1
7	IL1RN	Interleukin 1 Receptor Antagonist	Protein Coding	1
8	IL1B	Interleukin 1 Beta	Protein Coding	1
9	IL1A	Interleukin 1 Alpha	Protein Coding	1
10	POLR1H	RNA Polymerase I Subunit H	Protein Coding	1
11	IL36RN	Interleukin 36 Receptor Antagonist	Protein Coding	1
12	POLR1A	RNA Polymerase I Subunit A	Protein Coding	1
13	CKAP2L	Cytoskeleton Associated Protein 2 Like	Protein Coding	1
14	MERTK	MER Proto-Oncogene, Tyrosine Kinase	Protein Coding	1
15	BCL2L11	BCL2 Like 11	Protein Coding	1
16	TTL	Tubulin Tyrosine Ligase	Protein Coding	1
17	TMEM87B	Transmembrane Protein 87B	Protein Coding	1
18	IL1F10	Interleukin 1 Family Member 10	Protein Coding	1
19	ZC3H8	Zinc Finger CCCH-Type Containing 8	Protein Coding	1
20	CHCHD5	Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 5	Protein Coding	1
21	POLR1B	RNA Polymerase I Subunit B	Protein Coding	1
22	FBLN7	Fibulin 7	Protein Coding	1
23	POLR1G	RNA Polymerase I Subunit G	Protein Coding	1
24	RNU6-1180P	RNA, U6 Small Nuclear 1180, Pseudogene	Pseudogene	1
25	RN7SL297P	RNA, 7SL, Cytoplasmic 297, Pseudogene	Pseudogene	1
26	RGPD8	RANBP2 Like And GRIP Domain Containing 8	Protein Coding	1
27	ANAPC1	Anaphase Promoting Complex Subunit 1	Protein Coding	1
28	POLR1E	RNA Polymerase I Subunit E	Protein Coding	1
29	IL36G	Interleukin 36 Gamma	Protein Coding	1
30	POLR2L	RNA Polymerase II, I And III Subunit L	Protein Coding	1
31	POLR2K	RNA Polymerase II, I And III Subunit K	Protein Coding	1
32	POLR2H	RNA Polymerase II, I And III Subunit H	Protein Coding	1
33	POLR2F	RNA Polymerase II, I And III Subunit F	Protein Coding	1
34	POLR2E	RNA Polymerase II, I And III Subunit E	Protein Coding	1
35	ZC3H6	Zinc Finger CCCH-Type Containing 6	Protein Coding	1
36	NT5DC4	5''-Nucleotidase Domain Containing 4	Protein Coding	1
37	IL36A	Interleukin 36 Alpha	Protein Coding	1
38	IL37	Interleukin 37	Protein Coding	1
39	IL36B	Interleukin 36 Beta	Protein Coding	1
40	PSD4	Pleckstrin And Sec7 Domain Containing 4	Protein Coding	1
41	POLR1F	RNA Polymerase I Subunit F	Protein Coding	1

Disorders associated with 2q13 copy number variation syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Treacher collins syndrome 1	Enrichment	POLR1B, POLR1C, POLR1D	6.05
2	Filippi syndrome	Enrichment	CKAP2L, NT5DC4	5.05
3	2q13 microdeletion syndrome	Enrichment	FBLN7, TMEM87B	5.05
4	Autoinflammatory disease	Enrichment	IL1RN, IL36RN	2.63
5	Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis	Enrichment	IL1RN	2.52
6	Leukodystrophy, hypomyelinating, 27	Enrichment	POLR1A	2.52
7	Treacher collins syndrome 4	Enrichment	POLR1B	2.52
8	Microvascular complications of diabetes 4	Enrichment	IL1RN	2.52
9	Rothmund-thomson syndrome, type 1	Enrichment	ANAPC1	2.52
10	Treacher collins syndrome 2	Enrichment	POLR1D	2.52
11	Immunodeficiency 31a	Enrichment	STAT1	2.52
12	Autoinflammation, antibody deficiency, and immune dysregulation	Enrichment	PLCG2	2.52
13	Immunodeficiency 31b	Enrichment	STAT1	2.52
14	Familial cold autoinflammatory syndrome 3	Enrichment	PLCG2	2.52
15	Inflammatory bowel disease 31, autosomal recessive	Enrichment	IL37	2.52
16	Hypogonadism	Enrichment	CKAP2L	2.52
17	Inflammatory bowel disease	Enrichment	IL37	2.52
18	Treacher collins syndrome 3	Enrichment	POLR1C	2.22
19	Waardenburg syndrome, type 4c	Enrichment	POLR2F	2.22
20	Immunodeficiency 31c	Enrichment	STAT1	2.22
21	Psoriasis 14, pustular	Enrichment	IL36RN	2.22
22	Leukoencephalopathy, progressive, with ovarian failure	Enrichment	POLR1C	2.22
23	Leukodystrophy, hypomyelinating, 11	Enrichment	POLR1C	2.22
24	Peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	Enrichment	POLR2F	2.22
25	Acrofacial dysostosis, cincinnati type	Enrichment	POLR1A	2.22
26	Retinitis pigmentosa 38	Enrichment	MERTK	2.22
27	Gastric cancer	Enrichment	IL1B, IL1RN	2.13
28	Waardenburg syndrome, type 2a	Enrichment	POLR2F	2.04
29	Burn-mckeown syndrome	Enrichment	POLR1A	2.04
30	Hypogonadotropic hypogonadism 1 with or without anosmia	Enrichment	POLR2F	1.82
31	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism	Enrichment	POLR1C	1.82
32	Waardenburg syndrome, type 4a	Enrichment	POLR2F	1.74
33	Chronic mucocutaneous candidiasis	Enrichment	STAT1	1.74
34	Waardenburg syndrome	Enrichment	POLR2F	1.74
35	Waardenburg syndrome, type 1	Enrichment	POLR2F	1.68
36	Waardenburg syndrome, type 2e	Enrichment	POLR2F	1.68
37	Kallmann syndrome	Enrichment	POLR2F	1.17
38	Hirschsprung disease 1	Enrichment	POLR2F	1.08
39	Rare genetic deafness	Enrichment	POLR2F	0.67
40	Retinitis pigmentosa	Enrichment	MERTK	0.32
41	Hereditary retinal dystrophy	Enrichment	MERTK	0.23
42	Fundus dystrophy	Enrichment	MERTK	0.23

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

2q13 copy number variation syndrome

Pathway Network for 2q13 copy number variation syndrome

Member Pathways for 2q13 copy number variation syndrome

Pathways in the 2q13 copy number variation syndrome SuperPath

Associated Genes for 2q13 copy number variation syndrome

Associated Disorders for 2q13 copy number variation syndrome

Disorders associated with 2q13 copy number variation syndrome SuperPath

STRING Interaction Network for 2q13 copy number variation syndrome

Sources for 2q13 copy number variation syndrome