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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 |
|---|---|---|---|---|---|
| C0264611 | Apraxia of Phonation | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0264611 | Apraxia of Phonation | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0264611 | Apraxia of Phonation | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0750927 | Apraxia, Developmental Verbal | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0750927 | Apraxia, Developmental Verbal | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0750927 | Apraxia, Developmental Verbal | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0750927 | Apraxia, Developmental Verbal | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0750927 | Apraxia, Developmental Verbal | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0750927 | Apraxia, Developmental Verbal | LGALS1 | 3956 | galectin 1 | P09382 |
| C0750927 | Apraxia, Developmental Verbal | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0750927 | Apraxia, Developmental Verbal | FASN | 2194 | fatty acid synthase | P49327 |
| C0543874 | Apraxia, oculomotor, Cogan type | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0543874 | Apraxia, oculomotor, Cogan type | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0003635 | Apraxias | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0003635 | Apraxias | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C0003635 | Apraxias | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0003635 | Apraxias | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
| C0003635 | Apraxias | PRNP | 5621 | prion protein | P04156 |
| C0003635 | Apraxias | GCK | 2645 | glucokinase | P35557 |
| C0003635 | Apraxias | PRNP | 5621 | prion protein | F7VJQ1 |
| C2936786 | Aqueductal Stenosis | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C2936786 | Aqueductal Stenosis | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C2936786 | Aqueductal Stenosis | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0003742 | Arcus Senilis | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0003742 | Arcus Senilis | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
