Disease Help

SER1 / YOR184W Disease

Disease Annotations consist of three mandatory components: a gene product, a term from the Disease Ontology (DO) controlled vocabulary and an evidence code. SGD provides manually curated DO Annotations derived from the literature.


Summary
Yeast SER1 is homologous to human PSAT1 and has been used to study mutations implicated in serine deficiencies, from PSAT deficiency on the mild end to the more severe Neu-Laxova syndrome 2, characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia

Manually Curated

Manually curated DO annotations reflect our best understanding of disease association for this gene product. Manually curated annotations are assigned by SGD curators based on published papers when available, or by curatorial statements if necessary. Curators periodically review all manually curated Disease annotations for accuracy and completeness.


Increase the total number of rows showing on this page using the pull-down located below the table, or use the page scroll at the table's top right to browse through the table's pages; use the arrows to the right of a column header to sort by that column; filter the table using the "Filter" box at the top of the table.

Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference

High-throughput

DO annotations from high-throughput experiments are based on a variety of large scale high-throughput experiments, including genome-wide experiments. Many of these annotations are made based on DO annotations (or mappings to DO annotations) assigned by the authors, rather than SGD curators. While SGD curators read these publications and often work closely with authors to incorporate the information, each individual annotation may not necessarily be reviewed by a curator.


Increase the total number of rows showing on this page using the pull-down located below the table, or use the page scroll at the table's top right to browse through the table's pages; use the arrows to the right of a column header to sort by that column; filter the table using the "Filter" box at the top of the table.

Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference

Computational

Computational DO Annotations are predictions. These annotations are NOT reviewed by a curator. Currently, all computational DO annotations for S. cerevisiae are assigned by an external source (for example, the Alliance of Genome Resources (Alliance).


Increase the total number of rows showing on this page using the pull-down located below the table, or use the page scroll at the table's top right to browse through the table's pages; use the arrows to the right of a column header to sort by that column; filter the table using the "Filter" box at the top of the table.

Gene Disease Ontology Term Qualifier Evidence Method Source Assigned On Reference

Shared Annotations

This diagram displays manually curated and high-throughput DO terms (orange circles) that are shared between the given gene (black circle), other yeast genes (dark blue circles), and human genes (light blue circles).