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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 |
|---|---|---|---|---|---|
| C0029422 | Osteochondrodysplasias | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0034068 | Pulmonary Eosinophilia | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C2673477 | Hypophosphatasia, Perinatal Lethal | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0013336 | Dwarfism | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0585442 | Osteosarcoma of bone | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C1704328 | Osteoblastic Osteosarcoma | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0029410 | Osteoarthritis of hip | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0029434 | Osteogenesis Imperfecta | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| 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 |
| C0002170 | Alopecia | ACER1 | 125981 | alkaline ceramidase 1 | Q8TDN7 |
| C0036341 | Schizophrenia | ALDOC | 230 | aldolase, fructose-bisphosphate C | P09972 |
| C2239176 | Liver carcinoma | ALDOC | 230 | aldolase, fructose-bisphosphate C | P09972 |
