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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 |
|---|---|---|---|---|---|
| C0007971 | Cheilitis | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0085682 | Hypophosphatemia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0020502 | Hyperparathyroidism | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0004352 | Autistic Disorder | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0002418 | Amblyopia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0026010 | Microphthalmos | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0017168 | Gastroesophageal reflux disease | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1857276 | Trichohepatoenteric Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0004096 | Asthma | ORMDL1 | 94101 | ORMDL sphingolipid biosynthesis regulator 1 | Q9P0S3 |
| C0004096 | Asthma | ORMDL2 | 29095 | ORMDL sphingolipid biosynthesis regulator 2 | Q53FV1 |
| C0025202 | melanoma | OS9 | 10956 | OS9 endoplasmic reticulum lectin | Q13438 |
| C4551686 | Malignant neoplasm of soft tissue | OS9 | 10956 | OS9 endoplasmic reticulum lectin | Q13438 |
| C1261473 | Sarcoma | OS9 | 10956 | OS9 endoplasmic reticulum lectin | Q13438 |
| C0003873 | Rheumatoid Arthritis | OS9 | 10956 | OS9 endoplasmic reticulum lectin | Q13438 |
| C0009402 | Colorectal Carcinoma | POC1B-GALNT4 | 100528030 | POC1B-GALNT4 readthrough | Q8N4A0 |
| 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 |
