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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 |
|---|---|---|---|---|---|
| C3642346 | Luminal B Breast Carcinoma | PDHB | 5162 | pyruvate dehydrogenase E1 subunit beta | P11177 |
| C3642346 | Luminal B Breast Carcinoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C3642346 | Luminal B Breast Carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3642346 | Luminal B Breast Carcinoma | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C3642346 | Luminal B Breast Carcinoma | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C3642345 | Luminal A Breast Carcinoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3642345 | Luminal A Breast Carcinoma | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
| C3642345 | Luminal A Breast Carcinoma | GLCE | 26035 | glucuronic acid epimerase | O94923 |
| C3642345 | Luminal A Breast Carcinoma | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C3642345 | Luminal A Breast Carcinoma | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C3642345 | Luminal A Breast Carcinoma | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C3642345 | Luminal A Breast Carcinoma | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C3642345 | Luminal A Breast Carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3642345 | Luminal A Breast Carcinoma | CDH13 | 1012 | cadherin 13 | P55290 |
| C3642345 | Luminal A Breast Carcinoma | FASN | 2194 | fatty acid synthase | P49327 |
| C3642345 | Luminal A Breast Carcinoma | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C3642345 | Luminal A Breast Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3554691 | HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| C3554657 | LISSENCEPHALY 5 | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C3554638 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C3554524 | MICROPHTHALMIA, ISOLATED 8 | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C3554518 | COWDEN SYNDROME 5 | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | TMTC1 | 83857 | transmembrane O-mannosyltransferase targeting cadherins 1 | Q8IUR5 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
