Gene Report

Basic Info
Approved Symbol DFNB31
Symbol Alias CIP98, WHRN, USH2D, PDZD7B
Approved Name deafness, autosomal recessive 31
Name Alias whirlin
Location 9q32
Position chr9:114402080-114505450, -1
External Links HGNC: 16361
Entrez Gene: 25861
Ensembl: ENSG00000095397
UCSC: uc004biz.4
No. of Studies 3 (Positive: 2; Negative: 1; trend: 0)
Overlap with SZ? YES
Overlap with MDD? NO
Gene related studies (count: 3)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Moskvina, V.,2009 In BP:Smallest P-value per gene=0.0004, Product of P truncation <=0.01=0.00229, Product of P truncation <=0.001=0.0003. It showed evidence for association with BD. Positive Comment on Study
Ollila, H. M.,2009 SNP: rs10982256, rs942518 we could confirm findings for this association with BPI. Positive Comment on Study
Takata, A.,2011(a) SNP: rs2274158, rs2274159, rs35003670, rs4978584, rs942518, rs942519 No significant association was observed. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 13)

GO terms by PBA (count: 0)

GO terms by database search (count: 13)

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Related other genetic factors
Gene related SNPs (count: 67)

Literature-origin SNPs (count: 7)

LD-proxies (count: 60)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

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

Overlap with SZ from cross-disorder studies (count: 1)

Overlap with SZ from candidate gene intersection analysis (count: 0)

Gene relationship with MDD

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Region: chr9:114402080..114505450 View in gBrowse
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