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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 ▲ |
|---|---|---|---|---|---|
| C0006826 | Malignant Neoplasms | TIPARP | 25976 | TCDD inducible poly(ADP-ribose) polymerase | Q7Z3E1 |
| C0025286 | Meningioma | TIPARP | 25976 | TCDD inducible poly(ADP-ribose) polymerase | Q7Z3E1 |
| C0007847 | Malignant tumor of cervix | TIPARP | 25976 | TCDD inducible poly(ADP-ribose) polymerase | Q7Z3E1 |
| C0001973 | Alcoholic Intoxication, Chronic | TIPARP | 25976 | TCDD inducible poly(ADP-ribose) polymerase | Q7Z3E1 |
| C0019159 | Hepatitis A | TIPARP | 25976 | TCDD inducible poly(ADP-ribose) polymerase | Q7Z3E1 |
| C3665347 | Visual Impairment | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0006012 | Borderline Personality Disorder | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0038379 | Strabismus | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0019693 | HIV Infections | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0085636 | Photophobia | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0028077 | Nyctalopia | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0015397 | Disorder of eye | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0009398 | Color vision defect | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C3489532 | Cone-Rod Dystrophy 2 | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0004936 | Mental disorders | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0004238 | Atrial Fibrillation | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0028738 | Nystagmus | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C1864849 | RETINAL CONE DYSTROPHY 4 | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0003850 | Arteriosclerosis | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0009402 | Colorectal Carcinoma | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C3280795 | HYPOPLASTIC LEFT HEART SYNDROME 2 | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C0022680 | Polycystic Kidney Diseases | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C4551854 | HYPOPLASTIC LEFT HEART SYNDROME 1 | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C0027868 | Neuromuscular Diseases | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
| C0026848 | Myopathy | PKD1L2 | 114780 | polycystin 1 like 2 (gene/pseudogene) | Q7Z442 |
