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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 |
|---|---|---|---|---|---|
| C0265261 | Multiple pterygium syndrome | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1561643 | Chronic Kidney Diseases | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0009946 | Conversion disorder | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0010674 | Cystic Fibrosis | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0025149 | Medulloblastoma | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0206664 | Teratocarcinoma | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0023895 | Liver diseases | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0028756 | Obesity, Morbid | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0149925 | Small cell carcinoma of lung | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0022665 | Kidney Neoplasm | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0457334 | Acute monoblastic leukemia | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| 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 |
| C0027651 | Neoplasms | ACER2 | 340485 | alkaline ceramidase 2 | Q5QJU3 |
| C0003850 | Arteriosclerosis | ACER2 | 340485 | alkaline ceramidase 2 | Q5QJU3 |
| C0006826 | Malignant Neoplasms | ACER2 | 340485 | alkaline ceramidase 2 | Q5QJU3 |
