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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 |
|---|---|---|---|---|---|
| C0220668 | Congenital contractural arachnodactyly | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0699885 | Carcinoma of bladder | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0085078 | Lysosomal Storage Diseases | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0026470 | Monoclonal Gammopathy of Undetermined Significance | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0006118 | Brain Neoplasms | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0014175 | Endometriosis | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0024790 | Paroxysmal nocturnal hemoglobinuria | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C0600139 | Prostate carcinoma | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C0376358 | Malignant neoplasm of prostate | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C0002874 | Aplastic Anemia | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C0271907 | Acquired aplastic anemia | ECI2 | 10455 | enoyl-CoA delta isomerase 2 | O75521 |
| C1536500 | Deficiency of acetyl-CoA acetyltransferase | ACAA2 | 10449 | acetyl-CoA acyltransferase 2 | P42765 |
| C0035222 | Respiratory Distress Syndrome, Adult | ACAA2 | 10449 | acetyl-CoA acyltransferase 2 | P42765 |
| C0029408 | Degenerative polyarthritis | ACAA2 | 10449 | acetyl-CoA acyltransferase 2 | P42765 |
| C2239176 | Liver carcinoma | ACAA2 | 10449 | acetyl-CoA acyltransferase 2 | P42765 |
| C0006826 | Malignant Neoplasms | LYPLA1 | 10434 | lysophospholipase 1 | O75608 |
| C0011847 | Diabetes | LYPLA1 | 10434 | lysophospholipase 1 | O75608 |
| C0025202 | melanoma | LYPLA1 | 10434 | lysophospholipase 1 | O75608 |
| C0027651 | Neoplasms | LYPLA1 | 10434 | lysophospholipase 1 | O75608 |
| C0007131 | Non-Small Cell Lung Carcinoma | LYPLA1 | 10434 | lysophospholipase 1 | O75608 |
| C0007097 | Carcinoma | LYPLA1 | 10434 | lysophospholipase 1 | O75608 |
| C1306459 | Primary malignant neoplasm | LYPLA1 | 10434 | lysophospholipase 1 | O75608 |
| C0003850 | Arteriosclerosis | LYPLA1 | 10434 | lysophospholipase 1 | O75608 |
| C1328840 | Autoimmune Lymphoproliferative Syndrome | LYPLA1 | 10434 | lysophospholipase 1 | O75608 |
| C0030297 | Pancreatic Neoplasm | LYPLA1 | 10434 | lysophospholipase 1 | O75608 |
