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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 |
|---|---|---|---|---|---|
| C0243026 | Sepsis | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
| C0025202 | melanoma | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0013336 | Dwarfism | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0023520 | Leukodystrophy | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0005697 | Neurogenic Urinary Bladder | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0235946 | Cerebral atrophy | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C3714756 | Intellectual Disability | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0013421 | Dystonia | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C2239176 | Liver carcinoma | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0023467 | Leukemia, Myelocytic, Acute | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C4721453 | Peripheral Nervous System Diseases | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0007758 | Cerebellar Ataxia | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0398739 | Congenital disorder of glycosylation, type 2C | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
| C0003467 | Anxiety | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
| C0025958 | Microcephaly | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
| C0013336 | Dwarfism | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
| C0007642 | Cellulitis | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
| C0013528 | Echolalia | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
| C2239176 | Liver carcinoma | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
| C1306459 | Primary malignant neoplasm | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C0006826 | Malignant Neoplasms | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C0006142 | Malignant neoplasm of breast | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C0079504 | Hermanski-Pudlak Syndrome | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C0017636 | Glioblastoma | PI4K2A | 55361 | phosphatidylinositol 4-kinase type 2 alpha | Q9BTU6 |
| C1850451 | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
