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 61151 - 61175 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name UniProt ID ▼
C0151313 Sensory neuropathy SLC33A1 9197 solute carrier family 33 member 1 O00400
C0000768 Congenital Abnormality SLC33A1 9197 solute carrier family 33 member 1 O00400
C0028738 Nystagmus SLC33A1 9197 solute carrier family 33 member 1 O00400
C1857276 Trichohepatoenteric Syndrome SLC33A1 9197 solute carrier family 33 member 1 O00400
C0009319 Colitis SLC33A1 9197 solute carrier family 33 member 1 O00400
C0011849 Diabetes Mellitus PDHX 8050 pyruvate dehydrogenase complex component X O00330
C1855553 Pyruvate Dehydrogenase E3-Binding Protein Deficiency PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0037772 Spastic Paraplegia PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0346647 Malignant neoplasm of pancreas PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0027651 Neoplasms PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0740457 Malignant neoplasm of kidney PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0342276 Maturity onset diabetes mellitus in young PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0008312 Primary biliary cirrhosis PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease PDHX 8050 pyruvate dehydrogenase complex component X O00330
C1335168 Ovarian mucinous tumor PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0020459 Hyperinsulinism PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0235974 Pancreatic carcinoma PDHX 8050 pyruvate dehydrogenase complex component X O00330
C3714756 Intellectual Disability PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0020456 Hyperglycemia PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0220981 Metabolic acidosis PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0281361 Adenocarcinoma of pancreas PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0011847 Diabetes PDHX 8050 pyruvate dehydrogenase complex component X O00330
C4282128 PATENT DUCTUS ARTERIOSUS 1 PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0887833 Carcinoma, Pancreatic Ductal PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0158981 Neonatal diabetes mellitus PDHX 8050 pyruvate dehydrogenase complex component X O00330

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Last updated: August 19, 2024