PAFAH1B1 copy number variation

No Pathway Network information available for PAFAH1B1 copy number variation

Pathways in the PAFAH1B1 copy number variation SuperPath

#	Name	Source	Genes
1	PAFAH1B1 copy number variation	WikiPathways	CLIP1 DCX DYNC1H1 NDEL1 NUDC PAFAH1B1 RELN TUBA1A VLDLR (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	NDEL1	NudE Neurodevelopment Protein 1 Like 1	Protein Coding	1
2	TUBA1A	Tubulin Alpha 1a	Protein Coding	1
3	VLDLR	Very Low Density Lipoprotein Receptor	Protein Coding	1
4	RELN	Reelin	Protein Coding	1
5	PAFAH1B1	Platelet Activating Factor Acetylhydrolase 1b Regulatory Subunit 1	Protein Coding	1
6	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	1
7	DCX	Doublecortin	Protein Coding	1
8	NUDC	Nuclear Distribution C, Dynein Complex Regulator	Protein Coding	1
9	CLIP1	CAP-Gly Domain Containing Linker Protein 1	Protein Coding	1

Disorders associated with PAFAH1B1 copy number variation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Lissencephaly	Enrichment	DCX, DYNC1H1, PAFAH1B1, RELN, TUBA1A	10.72
2	Congenital nervous system abnormality	Enrichment	DCX, DYNC1H1, TUBA1A, VLDLR	6.37
3	Nervous system disease	Enrichment	DCX, DYNC1H1, TUBA1A, VLDLR	6.37
4	Band heterotopia	Enrichment	DCX, PAFAH1B1	5.93
5	Arthritis, sacroiliac	Enrichment	RELN	3.18
6	Lissencephaly, x-linked, 1	Enrichment	DCX	3.18
7	Synovitis	Enrichment	RELN	3.18
8	Dync1h1-related disorders	Enrichment	DYNC1H1	3.18
9	Lissencephaly due to tuba1a mutation	Enrichment	TUBA1A	3.18
10	Cerebellar hypoplasia	Enrichment	VLDLR	3.18
11	Dcx-related disorders	Enrichment	DCX	3.18
12	Lissencephaly due to lis1 mutation	Enrichment	PAFAH1B1	3.18
13	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	Enrichment	DYNC1H1	2.88
14	Lissencephaly 1	Enrichment	PAFAH1B1	2.88
15	Muscular dystrophy, limb-girdle, autosomal recessive 3	Enrichment	TUBA1A	2.88
16	Cortical dysplasia, complex, with other brain malformations 13	Enrichment	DYNC1H1	2.88
17	Autosomal recessive limb-girdle muscular dystrophy type 2d	Enrichment	TUBA1A	2.88
18	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome	Enrichment	VLDLR	2.88
19	Lissencephaly 3	Enrichment	TUBA1A	2.88
20	Spinal muscular atrophy with lower extremity predominant	Enrichment	DYNC1H1	2.88
21	Charcot-marie-tooth disease, axonal, type 2o	Enrichment	DYNC1H1	2.88
22	Arthritis	Enrichment	RELN	2.88
23	Continuous spikes and waves during sleep	Enrichment	TUBA1A	2.88
24	Epilepsy, familial temporal lobe, 7	Enrichment	RELN	2.70
25	Miller-dieker lissencephaly syndrome	Enrichment	PAFAH1B1	2.70
26	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	PAFAH1B1	2.70
27	Kyphosis	Enrichment	RELN	2.70
28	Tubulinopathy-associated dysgyria	Enrichment	TUBA1A	2.70
29	Epilepsy with auditory features	Enrichment	RELN	2.70
30	Fucosidosis	Enrichment	DCX	2.58
31	Tubulinopathy	Enrichment	TUBA1A	2.58
32	Chromosome 15q11.2 deletion syndrome	Enrichment	PAFAH1B1	2.48
33	Lissencephaly 2	Enrichment	RELN	2.48
34	Spinal muscular atrophy	Enrichment	DYNC1H1	2.48
35	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	Enrichment	VLDLR	2.40
36	Congenital fibrosis of the extraocular muscles	Enrichment	TUBA1A	2.40
37	Early myoclonic encephalopathy	Enrichment	TUBA1A	2.40
38	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	TUBA1A	2.33
39	Cryptorchidism	Enrichment	TUBA1A	2.28
40	Cryptorchidism, unilateral or bilateral	Enrichment	TUBA1A	2.22
41	Bilateral perisylvian polymicrogyria	Enrichment	TUBA1A	2.22
42	Polymicrogyria	Enrichment	DYNC1H1	2.18
43	Short-rib thoracic dysplasia 3 with or without polydactyly	Enrichment	DYNC1H1	2.10
44	Corpus callosum, agenesis of	Enrichment	TUBA1A	2.00
45	Isolated corpus callosum agenesis	Enrichment	TUBA1A	2.00
46	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	TUBA1A	2.00
47	Dandy-walker syndrome	Enrichment	TUBA1A	1.95
48	Charcot-marie-tooth disease type 4	Enrichment	DYNC1H1	1.93
49	Scoliosis	Enrichment	RELN	1.80
50	Peripheral nervous system disease	Enrichment	DYNC1H1	1.68
51	Neuropathy	Enrichment	DYNC1H1	1.68
52	Fetal akinesia deformation sequence 1	Enrichment	TUBA1A	1.61
53	Cerebral palsy	Enrichment	TUBA1A	1.59
54	Myopathy	Enrichment	DYNC1H1	1.58
55	Charcot-marie-tooth disease	Enrichment	DYNC1H1	1.57
56	Benign epilepsy with centrotemporal spikes	Enrichment	RELN	1.57
57	Centralopathic epilepsy	Enrichment	RELN	1.55
58	West syndrome	Enrichment	TUBA1A	1.54
59	Body mass index quantitative trait locus 11	Enrichment	NUDC	1.49
60	Autosomal dominant non-syndromic intellectual disability	Enrichment	DYNC1H1	1.49
61	Autosomal recessive non-syndromic intellectual disability	Enrichment	CLIP1	1.42
62	Schizophrenia	Enrichment	RELN	1.41
63	Autism spectrum disorder	Enrichment	DYNC1H1	1.15
64	Microcephaly	Enrichment	DYNC1H1	1.10

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

PAFAH1B1 copy number variation

Pathway Network for PAFAH1B1 copy number variation

Member Pathways for PAFAH1B1 copy number variation

Pathways in the PAFAH1B1 copy number variation SuperPath

Associated Genes for PAFAH1B1 copy number variation

Associated Disorders for PAFAH1B1 copy number variation

Disorders associated with PAFAH1B1 copy number variation SuperPath

STRING Interaction Network for PAFAH1B1 copy number variation

Sources for PAFAH1B1 copy number variation