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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 |
|---|---|---|---|---|---|
| C0002736 | Amyotrophic Lateral Sclerosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0002736 | Amyotrophic Lateral Sclerosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0002736 | Amyotrophic Lateral Sclerosis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0002736 | Amyotrophic Lateral Sclerosis | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0002736 | Amyotrophic Lateral Sclerosis | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C0393554 | Amyotrophic Lateral Sclerosis With Dementia | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0393554 | Amyotrophic Lateral Sclerosis With Dementia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0543859 | Amyotrophic Lateral Sclerosis, Guam Form | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0543859 | Amyotrophic Lateral Sclerosis, Guam Form | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | SARM1 | 23098 | sterile alpha and TIR motif containing 1 | Q6SZW1 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | OTOG | 340990 | otogelin | Q6ZRI0 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | CNTN4 | 152330 | contactin 4 | Q8IWV2 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | RTN4R | 65078 | reticulon 4 receptor | Q9BZR6 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | CAT | 847 | catalase | P04040 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0279637 | Anal carcinoma | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0279637 | Anal carcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0279637 | Anal carcinoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0279637 | Anal carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
