monarch-initiative / owlsim-v3

Ontology Based Profile Matching
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Low phenodigm scores for disease matching #90

Open kshefchek opened 6 years ago

kshefchek commented 6 years ago

In this notebook: https://github.com/NCATS-Tangerine/cq-notebooks/blob/master/Orange_QB2_Other_CQs/Drug_Repurpose_By_Pheno/drug_repurposing.ipynb

I input the phenotypes for Amyotrophic lateral sclerosis type 1, expecting other subtypes would show high similarity; however, many related diseases are receiving somewhat low scores.

For example. Spastic Paraplegia 2, X-Linked (OMIM:312920) is the top ranked disease in owlsim 2 and has a score of 82, where as in owlsim 3 the score is 60.19. Is this an IC issue from adding human gene phenotype annotations?