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Due to system maintenance, the application system, application review by the Data Access Committee will be unavailable during the following period.
Schedule: October 5th (Mon), 2026, 9:00 - October 7th (Wed), 2026, 15:00 (JST)
We apologize for any inconvenience this may cause and appreciate your understanding.

We are currently receiving a large number of applications for data submission, and the review process is taking longer than usual.We sincerely apologize for the delay and kindly ask for your understanding. When submitting an application, we would greatly appreciate it if you could allow sufficient time for the processing.

Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0070-v1Release info

Latest

Research title

Molecular analysis of Birt-Hogg-Dube syndrome: Identification of new diagnostic marker and therapeutic target

Research overview

Aims
Identification of gene mutations in Birt-Hogg-Dube (BHD) associated kidney cancer
Methods
Whole exome sequencing
Participants/materials
15 BHD-associated kidney cancers
URL
N/A

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000125NGS (Exome)
  • WES
Controlled-access (Type I)2020-09-28

Data provider

Principal investigator
Masahiro Yao
Affiliation
Department of Urology, Yokohama City University Graduate School of Medicine

Research projects

No research projects.

Grants

NameTitleProject number
Project for Development of Innovative Research on Cancer Therapeutics (P-DIRECT), Japan Agency for Medical Research and Development (AMED)
Elucidation of molecular pathogenesis and exploration for novel diagnostic marker and therapeutic target of Birt-Hogg-Dubé (BHD) syndrome-associated kidney cancer
N/A

Related publications

TitleDOIDataset ID
BHD-associated kidney cancer exhibits unique molecular characteristics and a wide variety of variants in chromatin remodeling genes.
https://doi.org/10.1093/hmg/ddy181 (opens in a new tab)

Controlled access users

Principal investigatorAffiliationCountry/RegionResearch titlePeriod of data useDataset ID
Eamonn MaherMaher Department of Medical Genetics, University of CambridgeUnited KingdomMolecular Pathology of Human Genetic Disease (HumGenDis) (https://medgen.medschl.cam.ac.uk/research/molecular-pathology-of-human-genetic-disease-humgendis-study/)2023-04-06 – 2024-07-20