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 |
---|---|---|---|---|---|
C0155379 | Nystagmus associated with disorder of the vestibular system | PRNP | 5621 | prion protein | F7VJQ1 |
C0028738 | Nystagmus | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
C0028738 | Nystagmus | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
C0028738 | Nystagmus | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
C0028738 | Nystagmus | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
C0028738 | Nystagmus | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
C0028738 | Nystagmus | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
C0028738 | Nystagmus | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
C0028738 | Nystagmus | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
C0028738 | Nystagmus | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
C0028738 | Nystagmus | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
C0028738 | Nystagmus | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
C0028738 | Nystagmus | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
C0028738 | Nystagmus | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
C0028738 | Nystagmus | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
C0028738 | Nystagmus | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
C0028738 | Nystagmus | PIGS | 94005 | phosphatidylinositol glycan anchor biosynthesis class S | Q96S52 |
C0028738 | Nystagmus | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
C0028738 | Nystagmus | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
C0028738 | Nystagmus | GALC | 2581 | galactosylceramidase | P54803 |
C0028738 | Nystagmus | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
C0028738 | Nystagmus | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
C0028738 | Nystagmus | MANBA | 4126 | mannosidase beta | O00462 |
C0028738 | Nystagmus | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
C0028738 | Nystagmus | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
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Last updated: August 19, 2024