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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 |
|---|---|---|---|---|---|
| C0263628 | Tumoral calcinosis | KL | 9365 | klotho | Q9UEF7 |
| C0263628 | Tumoral calcinosis | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0263666 | Dermatomyositis, Childhood Type | LGALS9 | 3965 | galectin 9 | O00182 |
| C0263666 | Dermatomyositis, Childhood Type | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0263666 | Dermatomyositis, Childhood Type | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0263666 | Dermatomyositis, Childhood Type | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0263746 | Osteoarthritis of the hand | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0263746 | Osteoarthritis of the hand | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0263746 | Osteoarthritis of the hand | KL | 9365 | klotho | Q9UEF7 |
| C0263746 | Osteoarthritis of the hand | ACAN | 176 | aggrecan | P16112 |
| C0263746 | Osteoarthritis of the hand | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0263859 | Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0263859 | Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0263859 | Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0263912 | Rotator cuff syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0263912 | Rotator cuff syndrome | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0263912 | Rotator cuff syndrome | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0263912 | Rotator cuff syndrome | PRNP | 5621 | prion protein | P04156 |
| C0263912 | Rotator cuff syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
| C0264009 | Osteodystrophy | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0264324 | Calcification of trachea | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0264408 | Childhood asthma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0264408 | Childhood asthma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0264408 | Childhood asthma | PSAP | 5660 | prosaposin | P07602 |
| C0264408 | Childhood asthma | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
