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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 ▲ |
|---|---|---|---|---|---|
| C0271270 | Oculovestibuloauditory syndrome | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0014877 | Esotropia | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0039446 | Telangiectasis | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0036439 | Scoliosis, unspecified | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0020295 | Hydronephrosis | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0019294 | Hernia, Inguinal | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0027066 | Myoclonus | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0036857 | Severe intellectual disability | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0494475 | Tonic - clonic seizures | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0025958 | Microcephaly | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0038379 | Strabismus | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0009402 | Colorectal Carcinoma | UGT3A2 | 167127 | UDP glycosyltransferase family 3 member A2 | Q3SY77 |
| C0025517 | Metabolic Diseases | MOGAT2 | 80168 | monoacylglycerol O-acyltransferase 2 | Q3SYC2 |
| C0271650 | Impaired glucose tolerance | MOGAT2 | 80168 | monoacylglycerol O-acyltransferase 2 | Q3SYC2 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | MOGAT2 | 80168 | monoacylglycerol O-acyltransferase 2 | Q3SYC2 |
| C0011849 | Diabetes Mellitus | MOGAT2 | 80168 | monoacylglycerol O-acyltransferase 2 | Q3SYC2 |
| C0011847 | Diabetes | MOGAT2 | 80168 | monoacylglycerol O-acyltransferase 2 | Q3SYC2 |
| C2239176 | Liver carcinoma | MOGAT2 | 80168 | monoacylglycerol O-acyltransferase 2 | Q3SYC2 |
| C0020725 | Type II Mucolipidosis | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0033788 | Pseudo-Hurler Polydystrophy | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0878544 | Cardiomyopathies | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C2673377 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0019270 | Hernia | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0085078 | Lysosomal Storage Diseases | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C1306503 | Congenital exomphalos | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
