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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 |
|---|---|---|---|---|---|
| C3554691 | HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES | ACADM | 34 | acyl-CoA dehydrogenase medium chain | P11310 |
| 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 |
| C3642346 | Luminal B Breast Carcinoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C3642346 | Luminal B Breast Carcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| 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 |
| C3645536 | Autosomal Recessive Centronuclear Myopathy | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C3645536 | Autosomal Recessive Centronuclear Myopathy | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C3658299 | Zellweger Spectrum | ACAA1 | 30 | acetyl-CoA acyltransferase 1 | P09110 |
| C3658299 | Zellweger Spectrum | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C3658301 | Mycoplasma-Induced Stevens-Johnson Syndrome | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
