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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 |
|---|---|---|---|---|---|
| C3887980 | Protanomaly | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C3887964 | POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | GANAB | 23193 | glucosidase II alpha subunit | Q14697 |
| C3887964 | POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | FASN | 2194 | fatty acid synthase | P49327 |
| C3887964 | POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | ACLY | 47 | ATP citrate lyase | P53396 |
| C3887964 | POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C3887949 | Apparent mineralocorticoid excess | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C3887949 | Apparent mineralocorticoid excess | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C3887949 | Apparent mineralocorticoid excess | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3887949 | Apparent mineralocorticoid excess | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C3887938 | Deuteranomaly | ARSA | 410 | arylsulfatase A | P15289 |
| C3887938 | Deuteranomaly | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C3887938 | Deuteranomaly | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C3887938 | Deuteranomaly | CEL | 1056 | carboxyl ester lipase | P19835 |
| C3887938 | Deuteranomaly | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3887938 | Deuteranomaly | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C3887938 | Deuteranomaly | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C3887938 | Deuteranomaly | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C3887938 | Deuteranomaly | GLDC | 2731 | glycine decarboxylase | P23378 |
| C3887915 | AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C3887892 | Aortic Valve Disease 1 | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C3887709 | Optic Neuropathy | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C3887709 | Optic Neuropathy | ACO2 | 50 | aconitase 2 | Q99798 |
| C3887709 | Optic Neuropathy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3887709 | Optic Neuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C3887709 | Optic Neuropathy | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
