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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 ▲ |
|---|---|---|---|---|---|
| C1864100 | PSEUDOHYPOPARATHYROIDISM, TYPE IB | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0085084 | Motor Neuron Disease | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C1851584 | Childhood Ependymoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0023521 | Globoid cell leukodystrophy | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0037822 | Speech Disorders | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0032285 | Pneumonia | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0158981 | Neonatal diabetes mellitus | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0004903 | Beckwith-Wiedemann Syndrome | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C1458155 | Mammary Neoplasms | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0558356 | Malignant melanoma of eye | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0014474 | Ependymoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0029456 | Osteoporosis | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0007113 | Rectal Carcinoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0699790 | Colon Carcinoma | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0020456 | Hyperglycemia | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0002395 | Alzheimer's Disease | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0041408 | Turner Syndrome | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0020538 | Hypertensive disease | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0085413 | Polycystic Kidney, Autosomal Dominant | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0022661 | Kidney Failure, Chronic | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C2751306 | Polycystic kidney disease, type 2 | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C4552000 | Episodic Kinesigenic Dyskinesia 1 | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C3887499 | Renal cyst | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0022680 | Polycystic Kidney Diseases | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C0006826 | Malignant Neoplasms | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
