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
Displaying entries 48476 - 48500 of 62743 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Gene Name UniProt ID
C1853490 22q13.3 Deletion Syndrome PNPLA3 80339 patatin like phospholipase domain containing 3 Q9NST1
C0020456 Hyperglycemia PNPLA3 80339 patatin like phospholipase domain containing 3 Q9NST1
C0029408 Degenerative polyarthritis PNPLA3 80339 patatin like phospholipase domain containing 3 Q9NST1
C1306459 Primary malignant neoplasm PNPLA3 80339 patatin like phospholipase domain containing 3 Q9NST1
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

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Last updated: August 19, 2024