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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 |
|---|---|---|---|---|---|
| C0020555 | Hypertrichosis | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0018798 | Congenital Heart Defects | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0018802 | Congestive heart failure | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0015934 | Fetal Growth Retardation | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0025958 | Microcephaly | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0005697 | Neurogenic Urinary Bladder | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C4317295 | Congenital disorder of glycosylation type 1s | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0036572 | Seizures | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0018784 | Sensorineural Hearing Loss (disorder) | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0011849 | Diabetes Mellitus | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0025958 | Microcephaly | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0013336 | Dwarfism | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C2677590 | Congenital Disorder Of Glycosylation, Type In | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C3665347 | Visual Impairment | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| 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 |
