Rare diseases may individually be rare but collectively are a common problem.
Information on pathogenic variants is vital for disease diagnosis as well as research on therapeutic
approaches. Despite being published in the literature, pathogenicity data on patient variants may
not be accessible through a public resource. Our researchers have read peer reviewed manuscripts
indexed in MEDLINE and PubMed to create a curated list of published variants. The curated details
are reported as a highly annotated dataset of variants with clinical context and functional details.
The feature is intended to aid researchers in the identification of the mechanism of action of
pathogenic variants, and is not for clinical use.
Manual Curation Workflow
Rare Disease Information
X-linked Creatine Deficiency
X-linked creatine deficiency is a rare disease whose symptoms include mental
disability. It can be caused by variants in the SLC6A8 gene that impair creatine
To curate information about SLC6A8, the curator collected 216 published peer
manuscripts including reports of individual X-Linked Creatine Deficiency
modeling of protein folding topology and the impact of genetic variants on
pathways, and reviews, dating from 1975 to 2019.
Farber's disease and Spinal muscular atrophy-progressive myoclonic epilepsy are
diseases that can be caused by variants in the ASAH1 gene that impair acid
ceramidase enzyme activity.
To curate information about ASAH1, the curator collected 563 published peer
manuscripts including reports of individual Farber and SMA-PME patients,
protein folding topology and the impact of genetic variants on signaling
and reviews, dating from 1952 to 2019.