15q13.3 copy number variation syndrome

No Pathway Network information available for 15q13.3 copy number variation syndrome

Pathways in the 15q13.3 copy number variation syndrome SuperPath

#	Name	Source	Genes
1	15q13.3 copy number variation syndrome	WikiPathways	ARHGAP11B CCL5 CHRFAM7A CHRNA7 CREBBP FAN1 FANCD2 FYN GOLGA8H GOLGA8Q GOLGA8R GPR75 GRM6 KAT2B KLF13 MTMR10 OTUD7A SERPINH1 TRPM1 (see all 19) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	SERPINH1	Serpin Family H Member 1	Protein Coding	1
2	CCL5	C-C Motif Chemokine Ligand 5	Protein Coding	1
3	KLF13	KLF Transcription Factor 13	Protein Coding	1
4	TRPM1	Transient Receptor Potential Cation Channel Subfamily M Member 1	Protein Coding	1
5	GRM6	Glutamate Metabotropic Receptor 6	Protein Coding	1
6	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
7	FAN1	FANCD2 And FANCI Associated Nuclease 1	Protein Coding	1
8	FANCD2	FA Complementation Group D2	Protein Coding	1
9	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	1
10	CHRNA7	Cholinergic Receptor Nicotinic Alpha 7 Subunit	Protein Coding	1
11	OTUD7A	OTU Deubiquitinase 7A	Protein Coding	1
12	ARHGAP11B	Rho GTPase Activating Protein 11B	Protein Coding	1
13	CHRFAM7A	CHRNA7 (Exons 5-10) And FAM7A (Exons A-E) Fusion	Protein Coding	1
14	KAT2B	Lysine Acetyltransferase 2B	Protein Coding	1
15	GPR75	G Protein-Coupled Receptor 75	Protein Coding	1
16	GOLGA8R	Golgin A8 Family Member R	Protein Coding	1
17	GOLGA8H	Golgin A8 Family Member H	Protein Coding	1
18	GOLGA8Q	Golgin A8 Family Member Q	Protein Coding	1
19	MTMR10	Myotubularin Related Protein 10	Protein Coding	1

Disorders associated with 15q13.3 copy number variation syndrome SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Interstitial nephritis, karyomegalic	Enrichment	FAN1, MTMR10	5.73
2	Night blindness, congenital stationary, type 1c	Enrichment	GRM6, TRPM1	4.73
3	Congenital stationary night blindness	Enrichment	GRM6, TRPM1	3.34
4	Osteogenesis imperfecta, type x	Enrichment	SERPINH1	2.85
5	Menke-hennekam syndrome 1	Enrichment	CREBBP	2.85
6	Neurodevelopmental disorder with hypotonia and seizures	Enrichment	OTUD7A	2.85
7	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	2.85
8	Menke-hennekam syndrome	Enrichment	CREBBP	2.85
9	Thumb deformity	Enrichment	CREBBP	2.55
10	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	2.55
11	Preterm premature rupture of the membranes	Enrichment	SERPINH1	2.55
12	Chromosome 15q13.3 deletion syndrome	Enrichment	CHRNA7	2.55
13	Night blindness, congenital stationary, type 1b	Enrichment	GRM6	2.38
14	Tethered spinal cord syndrome	Enrichment	CREBBP	2.38
15	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	2.38
16	Erythrocytosis, familial, 2	Enrichment	FANCD2	2.25
17	Fanconi anemia, complementation group d2	Enrichment	FANCD2	2.16
18	Von hippel-lindau syndrome	Enrichment	FANCD2	2.16
19	Night blindness	Enrichment	TRPM1	2.16
20	Rubinstein-taybi syndrome 1	Enrichment	CREBBP	2.08
21	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP	2.08
22	Hypertrichosis	Enrichment	CREBBP	2.08
23	Heart disease	Enrichment	CREBBP	1.71
24	Corpus callosum, agenesis of	Enrichment	CREBBP	1.68
25	Osteogenesis imperfecta, type iii	Enrichment	SERPINH1	1.68
26	Isolated corpus callosum agenesis	Enrichment	CREBBP	1.68
27	Rare genetic intellectual disability	Enrichment	CREBBP	1.68
28	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	1.68
29	Human immunodeficiency virus type 1	Enrichment	CCL5	1.60
30	Diffuse large b-cell lymphoma	Enrichment	CREBBP	1.58
31	Scoliosis	Enrichment	CREBBP	1.48
32	Fanconi anemia, complementation group a	Enrichment	FANCD2	1.32
33	Leukemia, acute myeloid	Enrichment	FANCD2	1.26
34	Hereditary retinal dystrophy	Enrichment	GRM6, TRPM1	1.21
35	Fundus dystrophy	Enrichment	GRM6, TRPM1	1.21
36	Myeloma, multiple	Enrichment	CREBBP	1.12
37	Autism	Enrichment	CREBBP	1.02
38	Leber plus disease	Enrichment	GRM6	0.90
39	Ovarian cancer	Enrichment	FANCD2	0.88
40	Congenital nervous system abnormality	Enrichment	CREBBP	0.86
41	Nervous system disease	Enrichment	CREBBP	0.86

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

15q13.3 copy number variation syndrome

Pathway Network for 15q13.3 copy number variation syndrome

Member Pathways for 15q13.3 copy number variation syndrome

Pathways in the 15q13.3 copy number variation syndrome SuperPath

Associated Genes for 15q13.3 copy number variation syndrome

Associated Disorders for 15q13.3 copy number variation syndrome

Disorders associated with 15q13.3 copy number variation syndrome SuperPath

STRING Interaction Network for 15q13.3 copy number variation syndrome

Sources for 15q13.3 copy number variation syndrome