| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | PMM2 | group | C0027612 | GeneticVariation | 0.04 | disgenet |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | AGA | group | C0027612 | Biomarker | 0.01 | disgenet |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | COG6 | group | C0027612 | GeneticVariation | 0.01 | disgenet |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | ALG6 | group | C0027612 | GeneticVariation | 0.01 | disgenet |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | ALG8 | group | C0027612 | GeneticVariation | 0.01 | disgenet |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | EP300 | group | C0027612 | GeneticVariation | 0.01 | disgenet |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | ALG12 | group | C0027612 | Biomarker | 0.01 | disgenet |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | SLC35A1 | group | C0027612 | Biomarker | 0.01 | disgenet |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | STIL | group | C0027612 | GeneticVariation | 0.01 | disgenet |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | PMM1 | group | C0027612 | GeneticVariation | 0.01 | disgenet |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | ALG3 | group | C0027612 | GeneticVariation | 0.01 | disgenet |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities | COG7 | group | C0027612 | GeneticVariation | 0.01 | disgenet |
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