The similarity of inherited diseases (I): clinical similarity within the phenotypic series.

ABSTRACT:

Background

Mutations of different genes often result in clinically similar diseases. Among the datasets of similar diseases, we analyzed the 'phenotypic series' from Online Mendelian Inheritance in Man and examined the similarity of the diseases that belong to the same phenotypic series, because we hypothesize that clinical similarity may unveil shared pathogenic mechanisms.

Methods

Specifically, for each pair of diseases, we quantified their similarity, based on both number and information content of the shared clinical phenotypes. Then, we assembled the disease similarity network, in which nodes represent diseases and edges represent clinical similarities.

Results

On average, diseases have high similarity with other diseases of their own phenotypic series, even thou

SUBMITTER: Gamba A 

PROVIDER: S-EPMC7903653 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature