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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 |
|---|---|---|---|---|---|
| C2752007 | Congenital Disorder of Glycosylation, Type Io | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0016202 | Flatfoot | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0686353 | Muscular Dystrophies, Limb-Girdle | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0878544 | Cardiomyopathies | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0241005 | Creatine phosphokinase serum increased | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0026850 | Muscular Dystrophy | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0033578 | Prostatic Neoplasms | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0020501 | Primary Hyperoxaluria | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C1833683 | NEPHROLITHIASIS, CALCIUM OXALATE | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0022650 | Kidney Calculi | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0020500 | Hyperoxaluria | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0392525 | Nephrolithiasis | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0376358 | Malignant neoplasm of prostate | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C3888018 | Congenital Hyperinsulinism | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C0025521 | Inborn Errors of Metabolism | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
| C1306459 | Primary malignant neoplasm | CHPF2 | 54480 | chondroitin polymerizing factor 2 | Q9P2E5 |
| C0006826 | Malignant Neoplasms | CHPF2 | 54480 | chondroitin polymerizing factor 2 | Q9P2E5 |
| C0009402 | Colorectal Carcinoma | CHPF2 | 54480 | chondroitin polymerizing factor 2 | Q9P2E5 |
| C0001403 | Addison Disease | UGT2B28 | 54490 | UDP glucuronosyltransferase family 2 member B28 | Q9BY64 |
| C2239176 | Liver carcinoma | UGT2B28 | 54490 | UDP glucuronosyltransferase family 2 member B28 | Q9BY64 |
| C0268398 | Familial lichen amyloidosis | UGT2B28 | 54490 | UDP glucuronosyltransferase family 2 member B28 | Q9BY64 |
| C0009402 | Colorectal Carcinoma | UGT2B28 | 54490 | UDP glucuronosyltransferase family 2 member B28 | Q9BY64 |
| C0376358 | Malignant neoplasm of prostate | UGT2B28 | 54490 | UDP glucuronosyltransferase family 2 member B28 | Q9BY64 |
| C0027651 | Neoplasms | UGT2B28 | 54490 | UDP glucuronosyltransferase family 2 member B28 | Q9BY64 |
| C0600139 | Prostate carcinoma | UGT2B28 | 54490 | UDP glucuronosyltransferase family 2 member B28 | Q9BY64 |
