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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 |
|---|---|---|---|---|---|
| C3887639 | Autoimmune gastritis | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C3887641 | Recurrent hepatitis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3887645 | Job Syndrome | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C3887645 | Job Syndrome | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C3887645 | Job Syndrome | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C3887650 | Adult Rickets | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C3887650 | Adult Rickets | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C3887650 | Adult Rickets | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C3887650 | Adult Rickets | PHOSPHO1 | 162466 | phosphoethanolamine/phosphocholine phosphatase 1 | Q8TCT1 |
| C3887650 | Adult Rickets | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
| C3887650 | Adult Rickets | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C3887650 | Adult Rickets | RGN | 9104 | regucalcin | Q15493 |
| C3887650 | Adult Rickets | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C3887650 | Adult Rickets | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C3887662 | Intraspinal Neoplasm | ARSA | 410 | arylsulfatase A | P15289 |
| C3887662 | Intraspinal Neoplasm | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C3887662 | Intraspinal Neoplasm | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C3887662 | Intraspinal Neoplasm | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| 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 |
| C3887892 | Aortic Valve Disease 1 | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C3887915 | AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
