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Table 1 Disease enrichment analysis of the genes assigned to the MHs before and after addition of MH-gene pairs from SCR and non-MeSH groups

From: pyMeSHSim: an integrative python package for biomedical named entity recognition, normalization, and comparison of MeSH terms

OMIM diseases1MH-gene pairs (MH group / all)2Enriched UMLS diseases with DOSEP value (MH group / all)4
MH IDMH descriptionUMLS IDUMLS descriptionMH ID3
D057130Leber Congenital Amaurosis17/22C0339527Leber Congenital AmaurosisD0571303.43E-33 /
D020754Spinocerebellar Ataxias23/28C0087012Ataxia, SpinocerebellarD0207541.93E-30 /
D052177Kidney Diseases, Cystic19/25C1691228Cystic Kidney DiseasesD0521778.05E-19 /
D010009Osteochondrodysplasias14/64C0029422OsteochondrodysplasiasD0100098.87E-19 /
D002925Ciliary Motility Disorders26/31C0008780Ciliary Motility DisordersD0029251.60E-23 /
D015419Spastic Paraplegia, Hereditary28/36C0037773Spastic Paraplegia, HereditaryD0154191.22E-37 /
D007938Leukemia18/51C0085669Acute leukemiaD0079383.26E-10 /
  1. 1 The OMIM diseases were collected from the database disease-connect (34) with at least five MH-gene pairs outside the MH group.
  2. 2 (Number of MH-gene pairs in MH group) / (number of MH-gene pairs in all the three groups including MH, SCR and non-MeSH group).
  3. 3 The MH ID was mapped from the UMLS ID by pyMeSHSim.
  4. 4 (The enrichment P value of genes in MH group) / (The enrichment P value of genes in all the three groups).