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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 |
|---|---|---|---|---|---|
| C0005779 | Blood Coagulation Disorders | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0010346 | Crohn Disease | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0016202 | Flatfoot | RFT1 | 91869 | RFT1 homolog | Q96AA3 |
| C0009402 | Colorectal Carcinoma | POC1B-GALNT4 | 100528030 | POC1B-GALNT4 readthrough | Q8N4A0 |
| 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 |
| C0004096 | Asthma | ORMDL2 | 29095 | ORMDL sphingolipid biosynthesis regulator 2 | Q53FV1 |
| C0004096 | Asthma | ORMDL1 | 94101 | ORMDL sphingolipid biosynthesis regulator 1 | Q9P0S3 |
| C0028860 | Oculocerebrorenal Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0009691 | Congenital cataract | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0341703 | Adult Fanconi syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0015624 | Fanconi Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0878681 | Dent's disease | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0392525 | Nephrolithiasis | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1561643 | Chronic Kidney Diseases | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0004509 | Azoospermia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0009806 | Constipation | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0013336 | Dwarfism | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0038379 | Strabismus | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1306503 | Congenital exomphalos | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0015625 | Fanconi Anemia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1531647 | Cerebral ventriculomegaly | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
