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 751 - 775 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name UniProt ID ▼
C0011849 Diabetes Mellitus INPP5F 22876 inositol polyphosphate-5-phosphatase F Q9Y2H2
C0020456 Hyperglycemia INPP5F 22876 inositol polyphosphate-5-phosphatase F Q9Y2H2
C0011847 Diabetes INPP5F 22876 inositol polyphosphate-5-phosphatase F Q9Y2H2
C0030567 Parkinson Disease INPP5F 22876 inositol polyphosphate-5-phosphatase F Q9Y2H2
C0796012 Krause-Kivlin syndrome POFUT2 23275 protein O-fucosyltransferase 2 Q9Y2G5
C0036341 Schizophrenia POFUT2 23275 protein O-fucosyltransferase 2 Q9Y2G5
C0024530 Malaria POFUT2 23275 protein O-fucosyltransferase 2 Q9Y2G5
C0282577 Congenital Disorders of Glycosylation POFUT2 23275 protein O-fucosyltransferase 2 Q9Y2G5
C0265259 Popliteal pterygium syndrome POFUT2 23275 protein O-fucosyltransferase 2 Q9Y2G5
C0038454 Cerebrovascular accident MAN2B2 23324 mannosidase alpha class 2B member 2 Q9Y2E5
C0021051 Immunologic Deficiency Syndromes MAN2B2 23324 mannosidase alpha class 2B member 2 Q9Y2E5
C0265343 Jarcho-Levin syndrome SLC35A3 23443 solute carrier family 35 member A3 Q9Y2D2
C0036572 Seizures SLC35A3 23443 solute carrier family 35 member A3 Q9Y2D2
C0036439 Scoliosis, unspecified SLC35A3 23443 solute carrier family 35 member A3 Q9Y2D2
C3714756 Intellectual Disability SLC35A3 23443 solute carrier family 35 member A3 Q9Y2D2
C0025958 Microcephaly SLC35A3 23443 solute carrier family 35 member A3 Q9Y2D2
C0000768 Congenital Abnormality SLC35A3 23443 solute carrier family 35 member A3 Q9Y2D2
C0085136 Central Nervous System Neoplasms SLC35A3 23443 solute carrier family 35 member A3 Q9Y2D2
C0004352 Autistic Disorder SLC35A3 23443 solute carrier family 35 member A3 Q9Y2D2
C0029422 Osteochondrodysplasias SLC35A3 23443 solute carrier family 35 member A3 Q9Y2D2
C0282577 Congenital Disorders of Glycosylation SLC35A3 23443 solute carrier family 35 member A3 Q9Y2D2
C1510586 Autism Spectrum Disorders SLC35A3 23443 solute carrier family 35 member A3 Q9Y2D2
C0017638 Glioma SLC35A3 23443 solute carrier family 35 member A3 Q9Y2D2
C0036857 Severe intellectual disability SLC35A3 23443 solute carrier family 35 member A3 Q9Y2D2
C0014544 Epilepsy SLC35A3 23443 solute carrier family 35 member A3 Q9Y2D2

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Last updated: August 19, 2024