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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 |
|---|---|---|---|---|---|
| C2047886 | (Idiopathic) normal pressure hydrocephalus | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0015230 | Exanthema | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0949541 | Hurthle Cell Tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0334618 | Malignant granular cell tumor | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0948008 | Ischemic stroke | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0334276 | Adenocarcinoma in Situ | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0162429 | Malnutrition | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0206732 | Epithelioid hemangioendothelioma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0033975 | Psychotic Disorders | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1298681 | Oxalosis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| 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 |
| C0269102 | Endometrioma | SMPDL3A | 10924 | sphingomyelin phosphodiesterase acid like 3A | Q92484 |
| C0028064 | Niemann-Pick Diseases | SMPDL3A | 10924 | sphingomyelin phosphodiesterase acid like 3A | Q92484 |
| C0014175 | Endometriosis | SMPDL3A | 10924 | sphingomyelin phosphodiesterase acid like 3A | Q92484 |
| C0005695 | Bladder Neoplasm | SMPDL3A | 10924 | sphingomyelin phosphodiesterase acid like 3A | Q92484 |
| C0025958 | Microcephaly | SMPD4 | 55627 | sphingomyelin phosphodiesterase 4 | Q9NXE4 |
| C0027051 | Myocardial Infarction | SMPD4 | 55627 | sphingomyelin phosphodiesterase 4 | Q9NXE4 |
| C0027651 | Neoplasms | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0013336 | Dwarfism | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C2239176 | Liver carcinoma | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0006826 | Malignant Neoplasms | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0023418 | leukemia | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
