Disease ID | Disease name | Source of annotation with COG6 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS212066 | CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE II | ClinVar, OMIM, HUMSAVAR | link to OMIM | 16 | B4GALT1, MOGS, SLC35C1, COG4, SLC39A8, TMEM199, COG5, SLC35A2, TMEM165, COG8, COG1, SLC35A1, COG6, MGAT2, CCDC115, COG7 |
615328 | SHAHEEN SYNDROME | ClinVar, OMIM | link to OMIM | 1 | COG6 |
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