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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 ▲ |
|---|---|---|---|---|---|
| C0019196 | Hepatitis C | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0265252 | Coffin-Lowry syndrome | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0027708 | Nephroblastoma | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0036341 | Schizophrenia | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0016034 | Breast Fibrocystic Disease | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0281267 | bilateral breast cancer | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C3495439 | Inflammatory disorder of breast | CRLS1 | 54675 | cardiolipin synthase 1 | Q9UJA2 |
| C1854896 | Mucolipidosis III Gamma | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0085078 | Lysosomal Storage Diseases | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0036439 | Scoliosis, unspecified | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0038506 | Stuttering | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0026697 | Mucolipidoses | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0033788 | Pseudo-Hurler Polydystrophy | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0003504 | Aortic Valve Insufficiency | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0027092 | Myopia | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0020725 | Type II Mucolipidosis | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0026707 | Mucopolysaccharidosis IV | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0013336 | Dwarfism | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0035334 | Retinitis Pigmentosa | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0476254 | Dyslexia | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C2673377 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0003507 | Aortic Valve Stenosis | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0086795 | Pfaundler-Hurler Syndrome | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0033578 | Prostatic Neoplasms | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
