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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 |
|---|---|---|---|---|---|
| C0525045 | Mood Disorders | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0525045 | Mood Disorders | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0525045 | Mood Disorders | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C0525045 | Mood Disorders | PRNP | 5621 | prion protein | F7VJQ1 |
| C0525045 | Mood Disorders | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0525045 | Mood Disorders | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0542519 | Congenital absence of kidney | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0542519 | Congenital absence of kidney | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0543697 | Mixed cryoglobulinemia | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0543697 | Mixed cryoglobulinemia | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0543697 | Mixed cryoglobulinemia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| 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 |
| C0543874 | Apraxia, oculomotor, Cogan type | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0543874 | Apraxia, oculomotor, Cogan type | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
| C0543918 | SCHIZOPHRENIA 10 | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0543918 | SCHIZOPHRENIA 10 | CERK | 64781 | ceramide kinase | Q8TCT0 |
| C0544755 | Genu varum | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0544755 | Genu varum | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0544755 | Genu varum | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0544755 | Genu varum | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0544755 | Genu varum | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0544755 | Genu varum | ACAN | 176 | aggrecan | P16112 |
| C0544755 | Genu varum | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0544755 | Genu varum | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
