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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 ▲ |
|---|---|---|---|---|---|
| C1837461 | SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C1168401 | Squamous cell carcinoma of the head and neck | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0015695 | Fatty Liver | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0684249 | Carcinoma of lung | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0751606 | Adult Acute Lymphocytic Leukemia | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0751651 | Mitochondrial Diseases | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0013222 | Drug Use Disorders | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0014070 | Encephalomyelitis | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0023896 | Alcoholic Liver Diseases | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C0009319 | Colitis | CERS6 | 253782 | ceramide synthase 6 | Q6ZMG9 |
| C1853137 | BRACHYDACTYLY-SYNDACTYLY SYNDROME | MBOAT1 | 154141 | membrane bound O-acyltransferase domain containing 1 | Q6ZNC8 |
| C0008370 | Cholestasis | MBOAT1 | 154141 | membrane bound O-acyltransferase domain containing 1 | Q6ZNC8 |
| C0009402 | Colorectal Carcinoma | GCNT7 | 140687 | glucosaminyl (N-acetyl) transferase family member 7 | Q6ZNI0 |
| C1269683 | Major Depressive Disorder | DPY19L3 | 147991 | dpy-19 like C-mannosyltransferase 3 | Q6ZPD9 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | OTOG | 340990 | otogelin | Q6ZRI0 |
| C3554163 | DEAFNESS, AUTOSOMAL RECESSIVE 18B | OTOG | 340990 | otogelin | Q6ZRI0 |
| C1384666 | hearing impairment | OTOG | 340990 | otogelin | Q6ZRI0 |
| C0011053 | Deafness | OTOG | 340990 | otogelin | Q6ZRI0 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | OTOG | 340990 | otogelin | Q6ZRI0 |
| C0004096 | Asthma | OTOG | 340990 | otogelin | Q6ZRI0 |
| C0452138 | Sensorineural hearing loss, bilateral | OTOG | 340990 | otogelin | Q6ZRI0 |
| C0023434 | Chronic Lymphocytic Leukemia | CLEC17A | 388512 | C-type lectin domain containing 17A | Q6ZS10 |
| C0002395 | Alzheimer's Disease | PNPLA7 | 375775 | patatin like phospholipase domain containing 7 | Q6ZV29 |
