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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 |
|---|---|---|---|---|---|
| C0037769 | West Syndrome | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C1458140 | Bleeding tendency | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0282577 | Congenital Disorders of Glycosylation | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0011847 | Diabetes | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0027066 | Myoclonus | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0036341 | Schizophrenia | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0038379 | Strabismus | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0036857 | Severe intellectual disability | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C1384666 | hearing impairment | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0005779 | Blood Coagulation Disorders | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0010346 | Crohn Disease | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0016202 | Flatfoot | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0013336 | Dwarfism | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0235946 | Cerebral atrophy | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0282577 | Congenital Disorders of Glycosylation | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0017168 | Gastroesophageal reflux disease | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0020295 | Hydronephrosis | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0241005 | Creatine phosphokinase serum increased | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0020615 | Hypoglycemia | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C2931010 | Congenital disorder of glycosylation type 2E | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C1384666 | hearing impairment | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0007194 | Hypertrophic Cardiomyopathy | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0020555 | Hypertrichosis | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0018798 | Congenital Heart Defects | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
