Diseases of carbohydrate metabolism
Pathways in the Diseases of carbohydrate metabolism SuperPath
| # | Name | Source | Genes |
|---|---|---|---|
| 1 | Diseases of carbohydrate metabolism | Reactome | |
| 2 | Glycogen storage diseases | Reactome | |
| 3 | Glycogen storage disease type II (GAA) | Reactome | |
| 4 | Severe congenital neutropenia type 4 (G6PC3) | Reactome | |
| 5 | Glycogen storage disease type Ib (SLC37A4) | Reactome |
Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways
| # | Symbol | Description | Category | # Related Pathways |
|---|---|---|---|---|
| 1 | SLC37A4 | Solute Carrier Family 37 Member 4 | Protein Coding | 3 |
| 2 | GAA | Alpha Glucosidase | Protein Coding | 3 |
| 3 | GYG1 | Glycogenin 1 | Protein Coding | 3 |
| 4 | G6PC3 | Glucose-6-Phosphatase Catalytic Subunit 3 | Protein Coding | 3 |
| 5 | G6PC1 | Glucose-6-Phosphatase Catalytic Subunit 1 | Protein Coding | 2 |
| 6 | GBE1 | 1,4-Alpha-Glucan Branching Enzyme 1 | Protein Coding | 2 |
| 7 | GYS1 | Glycogen Synthase 1 | Protein Coding | 2 |
| 8 | GYS2 | Glycogen Synthase 2 | Protein Coding | 2 |
| 9 | NHLRC1 | NHL Repeat Containing E3 Ubiquitin Protein Ligase 1 | Protein Coding | 2 |
| 10 | PPP1R3C | Protein Phosphatase 1 Regulatory Subunit 3C | Protein Coding | 2 |
| 11 | RPS27A | Ribosomal Protein S27a | Protein Coding | 2 |
| 12 | UBA52 | Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1 | Protein Coding | 2 |
| 13 | UBB | Ubiquitin B | Protein Coding | 2 |
| 14 | UBC | Ubiquitin C | Protein Coding | 2 |
| 15 | EPM2A | EPM2A Glucan Phosphatase, Laforin | Protein Coding | 2 |
| 16 | GYG2 | Glycogenin 2 | Protein Coding | 2 |
| 17 | HGSNAT | Heparan-Alpha-Glucosaminide N-Acetyltransferase | Protein Coding | 1 |
| 18 | ALDOB | Aldolase, Fructose-Bisphosphate B | Protein Coding | 1 |
| 19 | RPIA | Ribose 5-Phosphate Isomerase A | Protein Coding | 1 |
| 20 | GALNS | Galactosamine (N-Acetyl)-6-Sulfatase | Protein Coding | 1 |
| 21 | GLB1 | Galactosidase Beta 1 | Protein Coding | 1 |
| 22 | GNS | Glucosamine (N-Acetyl)-6-Sulfatase | Protein Coding | 1 |
| 23 | GUSB | Glucuronidase Beta | Protein Coding | 1 |
| 24 | HYAL1 | Hyaluronidase 1 | Protein Coding | 1 |
| 25 | IDS | Iduronate 2-Sulfatase | Protein Coding | 1 |
| 26 | IDUA | Alpha-L-Iduronidase | Protein Coding | 1 |
| 27 | KHK | Ketohexokinase | Protein Coding | 1 |
| 28 | LCT | Lactase | Protein Coding | 1 |
| 29 | ARSB | Arylsulfatase B | Protein Coding | 1 |
| 30 | NAGLU | N-Acetyl-Alpha-Glucosaminidase | Protein Coding | 1 |
| 31 | DCXR | Dicarbonyl And L-Xylulose Reductase | Protein Coding | 1 |
| 32 | SGSH | N-Sulfoglucosamine Sulfohydrolase | Protein Coding | 1 |
| 33 | SI | Sucrase-Isomaltase | Protein Coding | 1 |
| 34 | TALDO1 | Transaldolase 1 | Protein Coding | 1 |
Disorders associated with Diseases of carbohydrate metabolism SuperPath
according to GeneCards Suite gene sharing
| # | Disorder | Type | Genes | Score |
|---|---|---|---|---|
| 1 | Carbohydrate metabolic disorder | Direct | ||
| 2 | Glycogen storage disease | Direct | ||
| 3 | Pompe disease, infantile-onset | Direct | ||
| 4 | Severe congenital neutropenia | Direct | ||
| 5 | Glycogen storage disease ia | Direct |