ADHDgene Database
  • Published Variant
  • Published Gene: 359
  • Published Region: 128
  • Pathway by PBA: 8
  • Study: 361

Gene Report

Basic Info
Approved Symbol PAFAH1B1
Previous Symbol MDCR, MDS
Symbol Alias LIS1, PAFAH
Approved Name platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
Previous Name "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)", "Miller-Dieker syndrome chromosome region", "platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa", "platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"
Location 17p13.3
Position chr17:2496504-2588909, 1
External Links HGNC: 8574
Entrez Gene: 5048
Ensembl: ENSG00000007168
UCSC: uc002fuw.4
No. of Studies 0 (significant: 0; non-significant: 0; trend: 0)
Source Mapped by PBA pathway

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 70)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 1)

GO terms by database search (count: 69)

Gene related KEGG pathways (count: 1)

Genes shared at least 5 GO terms with PAFAH1B1 (count: 121)

Genes shared at least 2 KEGG pathways with PAFAH1B1 (count: 0)

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Region: chr17:2496504..2588909 View in gBrowse
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