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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 |
|---|---|---|---|---|---|
| C1704321 | Nephrotic Syndrome, Minimal Change | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0024530 | Malaria | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0040136 | Thyroid Neoplasm | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0279626 | Squamous cell carcinoma of esophagus | DHDH | 27294 | dihydrodiol dehydrogenase | Q9UQ10 |
| C0684249 | Carcinoma of lung | DHDH | 27294 | dihydrodiol dehydrogenase | Q9UQ10 |
| C0376358 | Malignant neoplasm of prostate | DHDH | 27294 | dihydrodiol dehydrogenase | Q9UQ10 |
| C0279014 | Childhood Germ Cell Tumor | DHDH | 27294 | dihydrodiol dehydrogenase | Q9UQ10 |
| C0242379 | Malignant neoplasm of lung | DHDH | 27294 | dihydrodiol dehydrogenase | Q9UQ10 |
| C2239176 | Liver carcinoma | DHDH | 27294 | dihydrodiol dehydrogenase | Q9UQ10 |
| C0007097 | Carcinoma | DHDH | 27294 | dihydrodiol dehydrogenase | Q9UQ10 |
| C0007131 | Non-Small Cell Lung Carcinoma | DHDH | 27294 | dihydrodiol dehydrogenase | Q9UQ10 |
| C0205851 | Germ cell tumor | DHDH | 27294 | dihydrodiol dehydrogenase | Q9UQ10 |
| C0026654 | Moyamoya Disease | SMPDL3B | 27293 | sphingomyelin phosphodiesterase acid like 3B | Q92485 |
| C0022658 | Kidney Diseases | SMPDL3B | 27293 | sphingomyelin phosphodiesterase acid like 3B | Q92485 |
| C2931384 | Moyamoya disease 1 | SMPDL3B | 27293 | sphingomyelin phosphodiesterase acid like 3B | Q92485 |
| C0017668 | Focal glomerulosclerosis | SMPDL3B | 27293 | sphingomyelin phosphodiesterase acid like 3B | Q92485 |
| C0024141 | Lupus Erythematosus, Systemic | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0010606 | Adenoid Cystic Carcinoma | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0001973 | Alcoholic Intoxication, Chronic | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0040517 | Gilles de la Tourette syndrome | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C3714756 | Intellectual Disability | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0003125 | Anorexia Nervosa | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0004352 | Autistic Disorder | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C1868675 | PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
