Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

doi:10.1002/humu.23233

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Article

Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.

Human mutation - 1 Jul 2017

Astuti Dewi, Sabir Ataf, Fulton Piers, Zatyka Malgorzata, Williams Denise, Hardy Carol, Milan Gabriella, Favaretto Francesca, Yu-Wai-Man Patrick, Rohayem Julia, López de Heredia Miguel, Hershey Tamara, Tranebjaerg Lisbeth, Chen Jian-Hua, Chaussenot Annabel, Nunes Virginia, Marshall Bess, McAfferty Susan, Tillmann Vallo, Maffei Pietro, Paquis-Flucklinger Veronique, Geberhiwot Tarekign, Mlynarski Wojciech, Parkinson Kay, Picard Virginie, Bueno Gema Esteban, Dias Renuka, Arnold Amy, Richens Caitlin, Paisey Richard, Urano Fumihiko, Semple Robert, Sinnott Richard, Barrett Timothy G

Abstract excerpt

We developed a variant database for diabetes syndrome genes, using the Leiden Open Variation Database platform, containing observed phenotypes matched to the genetic variations. We populated it with 628 published disease-associated variants (December 2016) for: WFS1 (n = 309), CISD2 (n = 3), ALMS1 (n = 268), and SLC19A2 (n = 48) for Wolfram type 1, Wolfram type 2, Alström, and Thiamine-responsive megaloblastic...

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Identifiers

PMID: 28432734
DOI: 10.1002/humu.23233
PMCID: PMC5535005

Genes

WFS1
ALMS1
CISD2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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