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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 |
|---|---|---|---|---|---|
| C0002726 | Amyloidosis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0002726 | Amyloidosis | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0002726 | Amyloidosis | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0236733 | Amphetamine-Related Disorders | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0236733 | Amphetamine-Related Disorders | HS3ST4 | 9951 | heparan sulfate-glucosamine 3-sulfotransferase 4 | Q9Y661 |
| C0236733 | Amphetamine-Related Disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0236733 | Amphetamine-Related Disorders | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0236733 | Amphetamine-Related Disorders | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0236733 | Amphetamine-Related Disorders | CDH13 | 1012 | cadherin 13 | P55290 |
| C0236733 | Amphetamine-Related Disorders | ACSL6 | 23305 | acyl-CoA synthetase long chain family member 6 | Q9UKU0 |
| C0002622 | Amnesia | FUT10 | 84750 | fucosyltransferase 10 | Q6P4F1 |
| C0002622 | Amnesia | NEU3 | 10825 | neuraminidase 3 | Q9UQ49 |
| C0002622 | Amnesia | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0002622 | Amnesia | CD38 | 952 | CD38 molecule | P28907 |
| C0002622 | Amnesia | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0002622 | Amnesia | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0002622 | Amnesia | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0002622 | Amnesia | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0002622 | Amnesia | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C0002622 | Amnesia | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0002622 | Amnesia | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0002622 | Amnesia | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0002622 | Amnesia | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0002514 | Amino Acid Metabolism, Inborn Errors | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0002514 | Amino Acid Metabolism, Inborn Errors | ALDH6A1 | 4329 | aldehyde dehydrogenase 6 family member A1 | Q02252 |
