Disease ID | Disease name | Source of annotation with PGM1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS212065 | CONGENITAL DISORDERS OF GLYCOSYLATION, TYPE I | ClinVar, OMIM, HUMSAVAR | link to OMIM | 25 | ALG2, ALG1, ALG13, ALG3, CAD, STT3A, SRD5A3, ALG12, ALG8, DPAGT1, DDOST, ALG6, MPI, PMM2, STT3B, DOLK, MPDU1, RFT1, PGM1, ALG9, DPM1, DPM3, ALG11, DPM2, SSR4 |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Purine metabolism | hsa00230 | 5.28 |
Pentose phosphate pathway | hsa00030 | 7.86 |
Starch and sucrose metabolism | hsa00500 | 6.91 |
Galactose metabolism | hsa00052 | 7.72 |
Glycolysis / Gluconeogenesis | hsa00010 | 6.64 |
Amino sugar and nucleotide sugar metabolism | hsa00520 | 7.15 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
Diseases associated with glycosylation precursor biosynthesis | R-HSA-5609975 | 9.08 |
Defective PGM1 causes PGM1-CDG (CDG1t) | R-HSA-5609974 | 12.98 |
Glycogen synthesis | R-HSA-3322077 | 9.08 |
Metabolism | R-HSA-1430728 | 2.34 |
Glycogen breakdown (glycogenolysis) | R-HSA-70221 | 9.08 |
Diseases of glycosylation | R-HSA-3781865 | 6.89 |
Galactose catabolism | R-HSA-70370 | 10.66 |
Disease | R-HSA-1643685 | 3.33 |
Glucose metabolism | R-HSA-70326 | 6.77 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
isomerase activity | GO:0016853 | 4.62 |
magnesium ion binding | GO:0000287 | 4.41 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
phosphoglucomutase activity | GO:0004614 | 8.35 |
intramolecular transferase activity, phosphotransferases | GO:0016868 | 7.34 |
intramolecular transferase activity | GO:0016866 | 6.44 |
metal ion binding | GO:0046872 | 1.41 |