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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▲ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C3536714 | Renal dysplasia | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
C3536714 | Renal dysplasia | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C3536714 | Renal dysplasia | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
C3536714 | Renal dysplasia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C3536714 | Renal dysplasia | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
C3536714 | Renal dysplasia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
C3536714 | Renal dysplasia | GPC3 | 2719 | glypican 3 | P51654 |
C0403553 | Renal dysplasia and retinal aplasia (disorder) | UMOD | 7369 | uromodulin | P07911 |
C0403553 | Renal dysplasia and retinal aplasia (disorder) | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
C0268731 | Renal glomerular disease | GLA | 2717 | galactosidase alpha | P06280 |
C0268731 | Renal glomerular disease | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
C0268731 | Renal glomerular disease | OGA | 10724 | O-GlcNAcase | O60502 |
C0268731 | Renal glomerular disease | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
C0268731 | Renal glomerular disease | LYZ | 4069 | lysozyme | P61626 |
C0268731 | Renal glomerular disease | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
C0268731 | Renal glomerular disease | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
C0268731 | Renal glomerular disease | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
C0268731 | Renal glomerular disease | DCN | 1634 | decorin | P07585 |
C0268731 | Renal glomerular disease | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0268731 | Renal glomerular disease | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
C0268731 | Renal glomerular disease | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
C0268731 | Renal glomerular disease | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
C0268731 | Renal glomerular disease | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
C0268731 | Renal glomerular disease | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
C0268731 | Renal glomerular disease | UMOD | 7369 | uromodulin | P07911 |
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Last updated: August 19, 2024