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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 |
|---|---|---|---|---|---|
| C0393591 | AICARDI-GOUTIERES SYNDROME | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0393591 | AICARDI-GOUTIERES SYNDROME | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0393591 | AICARDI-GOUTIERES SYNDROME | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C3887915 | AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C3151055 | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C3809092 | ADAMS-OLIVER SYNDROME 4 | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C1306214 | ACTH-Secreting Pituitary Adenoma | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C1306214 | ACTH-Secreting Pituitary Adenoma | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0001231 | ACTH Syndrome, Ectopic | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0001231 | ACTH Syndrome, Ectopic | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C1860224 | ABLEPHARON-MACROSTOMIA SYNDROME | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0265425 | 9p partial monosomy syndrome | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C2713347 | 7-Dehydrocholesterol Reductase Deficiency | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0740302 | 5q-syndrome | ANXA5 | 308 | annexin A5 | P08758 |
| C0740302 | 5q-syndrome | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C0740302 | 5q-syndrome | CD14 | 929 | CD14 molecule | P08571 |
| C0740302 | 5q-syndrome | CD74 | 972 | CD74 molecule | P04233 |
| C3489793 | 46,XY Sex Reversal 3 | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C0574084 | 3-Methylglutaconic aciduria type 3 | ATRN | 8455 | attractin | O75882 |
| C0574083 | 3-Methylglutaconic aciduria type 2 | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0574083 | 3-Methylglutaconic aciduria type 2 | ATRN | 8455 | attractin | O75882 |
| C0574083 | 3-Methylglutaconic aciduria type 2 | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C1855126 | 3-Methylglutaconic Aciduria Type IV | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C3696376 | 3-Methylglutaconic Aciduria | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C3696376 | 3-Methylglutaconic Aciduria | AGK | 55750 | acylglycerol kinase | Q53H12 |
