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 52551 - 52575 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name UniProt ID ▲
C0022354 Jaundice, Obstructive PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0013336 Dwarfism PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0751448 Polyneuropathy, Familial PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0152427 Polydactyly PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0006826 Malignant Neoplasms PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0221356 Brachycephaly PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0023804 Lipomatosis, Multiple Symmetrical PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0015695 Fatty Liver PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0018418 Gynecomastia PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0521659 Motor Neuron Disease, Upper PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0270764 Motor Neuron Disease, Lower PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0339527 Leber Congenital Amaurosis PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0023801 Lipomatosis PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0028754 Obesity PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0751449 Acquired Polyneuropathy PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C1565489 Renal Insufficiency PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0034152 Henoch-Schoenlein Purpura PNPLA6 10908 patatin like phospholipase domain containing 6 Q8IY17
C0024117 Chronic Obstructive Airway Disease SLC35F3 148641 solute carrier family 35 member F3 Q8IY50
C0005122 Beriberi SLC35F3 148641 solute carrier family 35 member F3 Q8IY50
C0020538 Hypertensive disease SLC35F3 148641 solute carrier family 35 member F3 Q8IY50
C0023467 Leukemia, Myelocytic, Acute SLC35F3 148641 solute carrier family 35 member F3 Q8IY50
C0007766 Intracranial Aneurysm SLC35F3 148641 solute carrier family 35 member F3 Q8IY50
C0039841 Thiamine Deficiency SLC35F3 148641 solute carrier family 35 member F3 Q8IY50
C0006142 Malignant neoplasm of breast COLGALT2 23127 collagen beta(1-O)galactosyltransferase 2 Q8IYK4
C0002395 Alzheimer's Disease COLGALT2 23127 collagen beta(1-O)galactosyltransferase 2 Q8IYK4

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Last updated: August 19, 2024