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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 |
|---|---|---|---|---|---|
| C3714756 | Intellectual Disability | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0036337 | Schizoaffective Disorder | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0025958 | Microcephaly | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0341106 | Eosinophilic esophagitis | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0036572 | Seizures | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0007102 | Malignant tumor of colon | AFMID | 125061 | arylformamidase | Q63HM1 |
| C1458155 | Mammary Neoplasms | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0235946 | Cerebral atrophy | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C3714756 | Intellectual Disability | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0029089 | Ophthalmoplegia | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C1863512 | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0524851 | Neurodegenerative Disorders | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0038379 | Strabismus | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0006142 | Malignant neoplasm of breast | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0005745 | Blepharoptosis | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0036572 | Seizures | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0007785 | Cerebral Infarction | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0028738 | Nystagmus | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0027651 | Neoplasms | ADPRH | 141 | ADP-ribosylarginine hydrolase | P54922 |
| C0745103 | Hyperlipoproteinemia Type IIa | ADPRH | 141 | ADP-ribosylarginine hydrolase | P54922 |
| C0878544 | Cardiomyopathies | ADPRH | 141 | ADP-ribosylarginine hydrolase | P54922 |
| C1863512 | HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE | ADPRH | 141 | ADP-ribosylarginine hydrolase | P54922 |
| C0008354 | Cholera | ADPRH | 141 | ADP-ribosylarginine hydrolase | P54922 |
| C0020445 | Hypercholesterolemia, Familial | ADPRH | 141 | ADP-ribosylarginine hydrolase | P54922 |
| C0677886 | Epithelial ovarian cancer | ADPRH | 141 | ADP-ribosylarginine hydrolase | P54922 |
