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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 |
|---|---|---|---|---|---|
| C3489793 | 46,XY Sex Reversal 3 | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| 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 |
| C2713347 | 7-Dehydrocholesterol Reductase Deficiency | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0265425 | 9p partial monosomy syndrome | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1860224 | ABLEPHARON-MACROSTOMIA SYNDROME | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| 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 |
| 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 |
| C3809092 | ADAMS-OLIVER SYNDROME 4 | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
| C3151055 | ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C3887915 | AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0393591 | AICARDI-GOUTIERES SYNDROME | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0393591 | AICARDI-GOUTIERES SYNDROME | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0393591 | AICARDI-GOUTIERES SYNDROME | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| 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 |
| C0001857 | AIDS related complex | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0001857 | AIDS related complex | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0001857 | AIDS related complex | PLCD3 | 113026 | phospholipase C delta 3 | Q8N3E9 |
| C0001857 | AIDS related complex | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
