Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol ▲ | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0015469 | Facial paralysis | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0344530 | Congenital keratoglobus | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0035334 | Retinitis Pigmentosa | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0010038 | Corneal Opacity | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0010417 | Cryptorchidism | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0079541 | Holoprosencephaly | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0036439 | Scoliosis, unspecified | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0036572 | Seizures | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0035305 | Retinal Detachment | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0266483 | Pachygyria | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0086543 | Cataract | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0006826 | Malignant Neoplasms | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0017601 | Glaucoma | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0020490 | Hyperopia | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C2676033 | Hepatoblastoma Caused By Somatic Mutation | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C2239176 | Liver carcinoma | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C0007134 | Renal Cell Carcinoma | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C0001973 | Alcoholic Intoxication, Chronic | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C1140680 | Malignant neoplasm of ovary | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C0006142 | Malignant neoplasm of breast | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C4721610 | Carcinoma, Ovarian Epithelial | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C0206624 | Hepatoblastoma | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C0699791 | Stomach Carcinoma | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
| C0345904 | Malignant neoplasm of liver | PPAT | 5471 | phosphoribosyl pyrophosphate amidotransferase | Q06203 |
