Disease ID | Disease name | Source of annotation with MTTP | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
200100 | ABETALIPOPROTEINEMIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | MTTP |
PS605552 | ABDOMINAL OBESITY-METABOLIC SYNDROME | OMIM | link to OMIM | 2 | DYRK1B, MTTP |
PS108600 | SPASTIC ATAXIA | OMIM | link to OMIM | 7 | MTPAP, SACS, MTTP, AFG3L2, KIF1C, VAMP1, MARS2 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Fat digestion and absorption | hsa04975 | 7.45 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
Lipoprotein metabolism | R-HSA-174824 | 8.23 |
Metabolism | R-HSA-1430728 | 2.34 |
Chylomicron-mediated lipid transport | R-HSA-174800 | 9.18 |
Lipid digestion, mobilization, and transport | R-HSA-73923 | 7.2 |
GO term | GO ID | GO IC |
---|---|---|
phospholipid transporter activity | GO:0005548 | 5.87 |
lipid transporter activity | GO:0005319 | 5.03 |
substrate-specific transporter activity | GO:0022892 | 2.72 |
transporter activity | GO:0005215 | 2.57 |
lipid binding | GO:0008289 | 3.26 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
protein dimerization activity | GO:0046983 | 2.72 |
protein heterodimerization activity | GO:0046982 | 3.64 |
apolipoprotein binding | GO:0034185 | 6.97 |