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

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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.

There are no manually curated annotations for SER1.

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.

There are no high-throughput annotations for SER1.

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).

There are no computational annotations for SER1.

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).

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