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 |
---|---|---|---|---|---|
C0020473 | Hyperlipidemia | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
C0566602 | Primary sclerosing cholangitis | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
C0019158 | Hepatitis | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
C0001973 | Alcoholic Intoxication, Chronic | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
C0392514 | Hereditary hemochromatosis | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
C0338480 | Common Migraine | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0038505 | Sturge-Weber Syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0271623 | Hypogonadotropic hypogonadism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0344315 | Depressed mood | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C1859093 | Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0035334 | Retinitis Pigmentosa | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0002170 | Alopecia | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0028738 | Nystagmus | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0524851 | Neurodegenerative Disorders | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0700095 | Central neuroblastoma | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C2677586 | Spastic Paraplegia 39, Autosomal Recessive | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0027819 | Neuroblastoma | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0027765 | nervous system disorder | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0037773 | Spastic Paraplegia, Hereditary | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0154681 | Anterior Horn Cell Disease | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C1848745 | Oliver-McFarlane syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0442874 | Neuropathy | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C0011882 | Diabetic Neuropathies | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
C3714756 | Intellectual Disability | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
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Last updated: August 19, 2024