15q11.2 copy number variation syndrome

No Pathway Network information available for 15q11.2 copy number variation syndrome

#	Name	Source	Genes
1	15q11.2 copy number variation syndrome	WikiPathways	CYFIP1 FMR1 NIPA1 NIPA2 TUBGCP2 TUBGCP3 TUBGCP4 TUBGCP5 TUBGCP6 (see all 9) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	TUBGCP6	Tubulin Gamma Complex Component 6	Protein Coding	1
2	TUBGCP4	Tubulin Gamma Complex Component 4	Protein Coding	1
3	FMR1	Fragile X Messenger Ribonucleoprotein 1	Protein Coding	1
4	NIPA1	NIPA Magnesium Transporter 1	Protein Coding	1
5	TUBGCP5	Tubulin Gamma Complex Component 5	Protein Coding	1
6	TUBGCP2	Tubulin Gamma Complex Component 2	Protein Coding	1
7	TUBGCP3	Tubulin Gamma Complex Component 3	Protein Coding	1
8	NIPA2	NIPA Magnesium Transporter 2	Protein Coding	1
9	CYFIP1	Cytoplasmic FMR1 Interacting Protein 1	Protein Coding	1

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Autosomal recessive chorioretinopathy-microcephaly syndrome	Enrichment	TUBGCP4, TUBGCP6	5.63
2	Chromosome 15q11.2 deletion syndrome	Enrichment	NIPA1, NIPA2	5.41
3	Xq27.3q28 duplication syndrome	Enrichment	FMR1	3.18
4	Microcephaly and chorioretinopathy, autosomal recessive, 1	Enrichment	TUBGCP6	2.88
5	Spastic paraplegia 6, autosomal dominant	Enrichment	NIPA1	2.88
6	Cortical dysplasia, complex, with other brain malformations 15	Enrichment	TUBGCP2	2.88
7	Microcephaly and chorioretinopathy 1	Enrichment	TUBGCP6	2.88
8	Microcephaly and chorioretinopathy, autosomal recessive, 3	Enrichment	TUBGCP4	2.88
9	Microcephaly and chorioretinopathy 3	Enrichment	TUBGCP4	2.88
10	Fragile x tremor/ataxia syndrome	Enrichment	FMR1	2.58
11	Fragile x-associated tremor/ataxia syndrome	Enrichment	FMR1	2.58
12	Premature ovarian failure 1	Enrichment	FMR1	2.48
13	Fragile x syndrome	Enrichment	FMR1	2.48
14	Hereditary spastic paraplegia	Enrichment	NIPA1	1.56
15	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	NIPA1	1.42
16	Hereditary retinal dystrophy	Enrichment	TUBGCP6	0.75
17	Fundus dystrophy	Enrichment	TUBGCP6	0.75

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Pathway Network for 15q11.2 copy number variation syndrome