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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 |
|---|---|---|---|---|---|
| C0004936 | Mental disorders | DEGS2 | 123099 | delta 4-desaturase, sphingolipid 2 | Q6QHC5 |
| C0019693 | HIV Infections | DEGS2 | 123099 | delta 4-desaturase, sphingolipid 2 | Q6QHC5 |
| C0011849 | Diabetes Mellitus | DEGS2 | 123099 | delta 4-desaturase, sphingolipid 2 | Q6QHC5 |
| C0009402 | Colorectal Carcinoma | DEGS2 | 123099 | delta 4-desaturase, sphingolipid 2 | Q6QHC5 |
| C0011847 | Diabetes | DEGS2 | 123099 | delta 4-desaturase, sphingolipid 2 | Q6QHC5 |
| C0036341 | Schizophrenia | DEGS2 | 123099 | delta 4-desaturase, sphingolipid 2 | Q6QHC5 |
| C0948008 | Ischemic stroke | ACOT4 | 122970 | acyl-CoA thioesterase 4 | Q8N9L9 |
| C0007102 | Malignant tumor of colon | PLD4 | 122618 | phospholipase D family member 4 | Q96BZ4 |
| C0699790 | Colon Carcinoma | PLD4 | 122618 | phospholipase D family member 4 | Q96BZ4 |
| C0003873 | Rheumatoid Arthritis | PLD4 | 122618 | phospholipase D family member 4 | Q96BZ4 |
| C0019158 | Hepatitis | PLD4 | 122618 | phospholipase D family member 4 | Q96BZ4 |
| C0036421 | Systemic Scleroderma | PLD4 | 122618 | phospholipase D family member 4 | Q96BZ4 |
| C0271097 | Usher Syndrome | PLD4 | 122618 | phospholipase D family member 4 | Q96BZ4 |
| C0027877 | Neuronal Ceroid-Lipofuscinoses | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0751783 | Lafora Disease | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1850442 | CEROID LIPOFUSCINOSIS, NEURONAL, 5 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1838571 | Ceroid Lipofuscinosis, Neuronal, 7 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0235946 | Cerebral atrophy | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0022340 | Late-Infantile Neuronal Ceroid Lipfuscinosis | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1864923 | Northern epilepsy syndrome | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0751383 | Juvenile Neuronal Ceroid Lipofuscinosis | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1866282 | CEROID LIPOFUSCINOSIS, NEURONAL, 6 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0162672 | MERRF Syndrome | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1838570 | CEROID LIPOFUSCINOSIS, NEURONAL, 8 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0233844 | Clumsiness | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
