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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 |
|---|---|---|---|---|---|
| C0028738 | Nystagmus | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C3887499 | Renal cyst | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C3714581 | Multicystic Dysplastic Kidney | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0023903 | Liver neoplasms | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0008780 | Ciliary Motility Disorders | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0266551 | Congenital coloboma of iris | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0006826 | Malignant Neoplasms | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C3714506 | Meckel syndrome type 1 | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0008925 | Cleft Palate | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0011849 | Diabetes Mellitus | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0018852 | Heavy Chain Disease | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0235833 | Congenital diaphragmatic hernia | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0010674 | Cystic Fibrosis | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0018854 | gamma-Chain Disease | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0023895 | Liver diseases | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0700095 | Central neuroblastoma | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0017601 | Glaucoma | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0021390 | Inflammatory Bowel Diseases | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0009404 | Colorectal Neoplasms | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0497327 | Dementia | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0021071 | Immunoproliferative Small Intestinal Disease | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0011265 | Presenile dementia | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0024314 | Lymphoproliferative Disorders | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
| C0011847 | Diabetes | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
