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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 ▲ |
|---|---|---|---|---|---|
| C0243026 | Sepsis | SPTLC3 | 55304 | serine palmitoyltransferase long chain base subunit 3 | Q9NUV7 |
| C0149931 | Migraine Disorders | OLAH | 55301 | oleoyl-ACP hydrolase | Q9NV23 |
| C0302362 | Brucella melitensis infection | OXSM | 54995 | 3-oxoacyl-ACP synthase, mitochondrial | Q9NWU1 |
| C0041296 | Tuberculosis | OXSM | 54995 | 3-oxoacyl-ACP synthase, mitochondrial | Q9NWU1 |
| C0006142 | Malignant neoplasm of breast | OXSM | 54995 | 3-oxoacyl-ACP synthase, mitochondrial | Q9NWU1 |
| 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 |
| C4721532 | Lymphoma, Non-Hodgkin, Familial | TMEM260 | 54916 | transmembrane protein 260 | Q9NX78 |
| C0018818 | Ventricular Septal Defects | TMEM260 | 54916 | transmembrane protein 260 | Q9NX78 |
| C0041207 | Truncus Arteriosus, Persistent | TMEM260 | 54916 | transmembrane protein 260 | Q9NX78 |
| C0024305 | Lymphoma, Non-Hodgkin | TMEM260 | 54916 | transmembrane protein 260 | Q9NX78 |
| C1306459 | Primary malignant neoplasm | TMEM260 | 54916 | transmembrane protein 260 | Q9NX78 |
| C0006826 | Malignant Neoplasms | TMEM260 | 54916 | transmembrane protein 260 | Q9NX78 |
| C0001973 | Alcoholic Intoxication, Chronic | TMEM260 | 54916 | transmembrane protein 260 | Q9NX78 |
| C1565489 | Renal Insufficiency | TMEM260 | 54916 | transmembrane protein 260 | Q9NX78 |
