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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 ▲ |
|---|---|---|---|---|---|
| C0006142 | Malignant neoplasm of breast | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C0025202 | melanoma | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C0005695 | Bladder Neoplasm | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C0678222 | Breast Carcinoma | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C0919267 | ovarian neoplasm | ECHDC1 | 55862 | ethylmalonyl-CoA decarboxylase 1 | Q9NTX5 |
| C0027051 | Myocardial Infarction | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C0007134 | Renal Cell Carcinoma | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C0005695 | Bladder Neoplasm | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C0027651 | Neoplasms | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C0006826 | Malignant Neoplasms | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C1306459 | Primary malignant neoplasm | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C0007131 | Non-Small Cell Lung Carcinoma | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C0005684 | Malignant neoplasm of urinary bladder | ACSS1 | 84532 | acyl-CoA synthetase short chain family member 1 | Q9NUB1 |
| C0018798 | Congenital Heart Defects | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0025362 | Mental Retardation | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0039446 | Telangiectasis | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0020295 | Hydronephrosis | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0019569 | Hirschsprung Disease | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0018784 | Sensorineural Hearing Loss (disorder) | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C3714756 | Intellectual Disability | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0271270 | Oculovestibuloauditory syndrome | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0027066 | Myoclonus | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0020490 | Hyperopia | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0079924 | Oligohydramnios | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C3495676 | Anorectal Malformations | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
