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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 |
|---|---|---|---|---|---|
| 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 |
| C0751494 | Convulsive Seizures | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0220743 | Childhood hypophosphatasia (disorder) | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0020630 | Hypophosphatasia | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0520739 | Hereditary pyropoikilocytosis | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0001787 | Osteoporosis, Age-Related | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0268413 | Adult hypophosphatasia (disorder) | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0004153 | Atherosclerosis | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0268412 | Infantile hypophosphatasia | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0494475 | Tonic - clonic seizures | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0751495 | Seizures, Focal | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0011334 | Dental caries | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0010054 | Coronary Arteriosclerosis | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0029456 | Osteoporosis | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0010278 | Craniosynostosis | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0553730 | Calcium pyrophosphate deposition disease | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
