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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 |
|---|---|---|---|---|---|
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0751884 | Congenital Myasthenic Syndromes, Presynaptic | AGRN | 375790 | agrin | O00468 |
| C0751883 | Congenital Myasthenic Syndromes, Postsynaptic | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0751883 | Congenital Myasthenic Syndromes, Postsynaptic | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751883 | Congenital Myasthenic Syndromes, Postsynaptic | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0751883 | Congenital Myasthenic Syndromes, Postsynaptic | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0751883 | Congenital Myasthenic Syndromes, Postsynaptic | AGRN | 375790 | agrin | O00468 |
| C0751882 | Myasthenic Syndromes, Congenital | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0751882 | Myasthenic Syndromes, Congenital | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0751882 | Myasthenic Syndromes, Congenital | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0751882 | Myasthenic Syndromes, Congenital | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0751882 | Myasthenic Syndromes, Congenital | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0751882 | Myasthenic Syndromes, Congenital | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0751882 | Myasthenic Syndromes, Congenital | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751882 | Myasthenic Syndromes, Congenital | AGRN | 375790 | agrin | O00468 |
| C0751882 | Myasthenic Syndromes, Congenital | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0751882 | Myasthenic Syndromes, Congenital | SEMA7A | 8482 | semaphorin 7A (John Milton Hagen blood group) | O75326 |
| C0751785 | Unverricht-Lundborg Syndrome | ARSA | 410 | arylsulfatase A | P15289 |
| C0751785 | Unverricht-Lundborg Syndrome | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0751785 | Unverricht-Lundborg Syndrome | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0751785 | Unverricht-Lundborg Syndrome | PFKL | 5211 | phosphofructokinase, liver type | P17858 |
| C0751785 | Unverricht-Lundborg Syndrome | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0751785 | Unverricht-Lundborg Syndrome | TMED9 | 54732 | transmembrane p24 trafficking protein 9 | Q9BVK6 |
| C0751785 | Unverricht-Lundborg Syndrome | PRNP | 5621 | prion protein | P04156 |
| C0751785 | Unverricht-Lundborg Syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
