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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0699791 | Stomach Carcinoma | TKTL1 | 8277 | transketolase like 1 | P51854 |
C0699791 | Stomach Carcinoma | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
C0699791 | Stomach Carcinoma | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
C0699791 | Stomach Carcinoma | ACYP2 | 98 | acylphosphatase 2 | P14621 |
C0699791 | Stomach Carcinoma | MTMR3 | 8897 | myotubularin related protein 3 | Q13615 |
C1859126 | Stippled epiphyses | GUSB | 2990 | glucuronidase beta | P08236 |
C1859126 | Stippled epiphyses | NEU1 | 4758 | neuraminidase 1 | Q99519 |
C1859126 | Stippled epiphyses | AGPS | 8540 | alkylglycerone phosphate synthase | O00116 |
C1859126 | Stippled epiphyses | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C1859126 | Stippled epiphyses | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
C0085292 | Stiff-Person Syndrome | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
C0085292 | Stiff-Person Syndrome | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
C0085292 | Stiff-Person Syndrome | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
C0085292 | Stiff-Person Syndrome | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
C0085292 | Stiff-Person Syndrome | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
C0085292 | Stiff-Person Syndrome | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
C2020284 | Stickler syndrome, type 1 | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
C2020284 | Stickler syndrome, type 1 | TECTA | 7007 | tectorin alpha | O75443 |
C2020284 | Stickler syndrome, type 1 | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
C2020284 | Stickler syndrome, type 1 | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
C2020284 | Stickler syndrome, type 1 | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | PTGIS | 5740 | prostaglandin I2 synthase | Q16647 |
C3658302 | Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
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Last updated: August 19, 2024