BDgene

Gene Report

Basic Info
Approved Symbol NF1
Approved Name neurofibromin 1
Name Alias neurofibromatosis, "von Recklinghausen disease", "Watson disease"
Location 17q11.2
Position chr17:31094927-31382116, 1
External Links HGNC: 7765
Entrez Gene: 4763
Ensembl: ENSG00000196712
UCSC: uc002hgg.3
No. of Studies 1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ? NO
Overlap with MDD? NO
Gene related studies (count: 1)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Forero, D. A., 2016 P-value=0.01. HapMap based haplotype block analysis as well as sliding window haplotype analysis revealed significant associations with NF1 (p=0,01), PPP3CB (p=0005) and PRKAR1A (p=0,03) in the total BP and SZ samples. Positive Comment on Study
Gene functional annotation
Gene related GO terms (count: 74)

GO terms by PBA (count: 4)

GO terms by database search (count: 70)


Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

KEGG pathways by database search (count: 0)


Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 7)

Related other genetic factors
Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 7)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Gene relationship with MDD

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Region: chr17:31094927..31382116 View in gBrowse
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