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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 |
|---|---|---|---|---|---|
| C0042870 | Vitamin D Deficiency | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C0042870 | Vitamin D Deficiency | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0042870 | Vitamin D Deficiency | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0042870 | Vitamin D Deficiency | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0042870 | Vitamin D Deficiency | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0042870 | Vitamin D Deficiency | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0042870 | Vitamin D Deficiency | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0042870 | Vitamin D Deficiency | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0042870 | Vitamin D Deficiency | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0042870 | Vitamin D Deficiency | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0042870 | Vitamin D Deficiency | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0042850 | Vitamin B Deficiency | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0936215 | Vitamin B 6 Deficiency | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0270824 | Visual seizure | PIGM | 93183 | phosphatidylinositol glycan anchor biosynthesis class M | Q9H3S5 |
| C0270824 | Visual seizure | ENO2 | 2026 | enolase 2 | P09104 |
| C0270824 | Visual seizure | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0270824 | Visual seizure | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0270824 | Visual seizure | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0270824 | Visual seizure | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0270824 | Visual seizure | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C0270824 | Visual seizure | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0270824 | Visual seizure | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0270824 | Visual seizure | CAT | 847 | catalase | P04040 |
| C0270824 | Visual seizure | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0270824 | Visual seizure | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
