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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 |
|---|---|---|---|---|---|
| C3536741 | Discordant ventriculoarterial connection | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C3536714 | Renal dysplasia | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C3536714 | Renal dysplasia | FKTN | 2218 | fukutin | O75072 |
| C3536714 | Renal dysplasia | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C3536714 | Renal dysplasia | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C3536714 | Renal dysplasia | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3536714 | Renal dysplasia | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C3536714 | Renal dysplasia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C3536714 | Renal dysplasia | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C3536714 | Renal dysplasia | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C3536714 | Renal dysplasia | GPC3 | 2719 | glypican 3 | P51654 |
| C3501848 | Nephrosis, congenital | TREH | 11181 | trehalase | O43280 |
| C3501848 | Nephrosis, congenital | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3501848 | Nephrosis, congenital | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C3501848 | Nephrosis, congenital | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C3501848 | Nephrosis, congenital | GPC3 | 2719 | glypican 3 | P51654 |
| C3501848 | Nephrosis, congenital | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C3501848 | Nephrosis, congenital | SDC2 | 6383 | syndecan 2 | P34741 |
| C3501843 | Nonmedullary Thyroid Carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C3501843 | Nonmedullary Thyroid Carcinoma | MINPP1 | 9562 | multiple inositol-polyphosphate phosphatase 1 | Q9UNW1 |
| C3501843 | Nonmedullary Thyroid Carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3501843 | Nonmedullary Thyroid Carcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3501843 | Nonmedullary Thyroid Carcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C3501372 | Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C3496337 | Idiopathic Nephrotic Syndrome | ACE | 1636 | angiotensin I converting enzyme | P12821 |
