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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 |
| Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0752355 | Myotonia Fluctuans (disorder) | QTRT1 | 81890 | queuine tRNA-ribosyltransferase catalytic subunit 1 | Q9BXR0 |
| C0795690 | Congenital omphalocele | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0795690 | Congenital omphalocele | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0795690 | Congenital omphalocele | GPC3 | 2719 | glypican 3 | P51654 |
| C0795690 | Congenital omphalocele | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0795690 | Congenital omphalocele | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0795830 | CHROMOSOME 9p DELETION SYNDROME | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0795830 | CHROMOSOME 9p DELETION SYNDROME | AMT | 275 | aminomethyltransferase | P48728 |
| C0795830 | CHROMOSOME 9p DELETION SYNDROME | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0795864 | Smith-Magenis syndrome | STS | 412 | steroid sulfatase | P08842 |
| C0795864 | Smith-Magenis syndrome | NT5M | 56953 | 5',3'-nucleotidase, mitochondrial | Q9NPB1 |
| C0795864 | Smith-Magenis syndrome | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0795887 | Complex Glycerol Kinase Deficiency | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0795887 | Complex Glycerol Kinase Deficiency | GK | 2710 | glycerol kinase | P32189 |
| C0795907 | CONOTRUNCAL ANOMALY FACE SYNDROME | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0795907 | CONOTRUNCAL ANOMALY FACE SYNDROME | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0795950 | Corpus callosum agenesis neuronopathy | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0795953 | MASA SYNDROME (disorder) | CANX | 821 | calnexin | P27824 |
| C0795953 | MASA SYNDROME (disorder) | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0795956 | Chylomicron retention disease | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0796004 | Kabuki make-up syndrome | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C0796012 | Krause-Kivlin syndrome | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0796012 | Krause-Kivlin syndrome | POFUT2 | 23275 | protein O-fucosyltransferase 2 | Q9Y2G5 |
| C0796012 | Krause-Kivlin syndrome | B3GALT1 | 8708 | beta-1,3-galactosyltransferase 1 | Q9Y5Z6 |
| C0796028 | ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
