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Glycan Structure Repository
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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 ▲ |
|---|---|---|---|---|---|
| C0220748 | Cartilage-hair hypoplasia | KLB | 152831 | klotho beta | Q86Z14 |
| C0342642 | Autosomal dominant hypophosphatemic rickets | KLB | 152831 | klotho beta | Q86Z14 |
| C0029928 | Ovarian Diseases | KLB | 152831 | klotho beta | Q86Z14 |
| C0400966 | Non-alcoholic Fatty Liver Disease | KLB | 152831 | klotho beta | Q86Z14 |
| C0549473 | Thyroid carcinoma | KLB | 152831 | klotho beta | Q86Z14 |
| C0023903 | Liver neoplasms | KLB | 152831 | klotho beta | Q86Z14 |
| C0011849 | Diabetes Mellitus | KLB | 152831 | klotho beta | Q86Z14 |
| C0007131 | Non-Small Cell Lung Carcinoma | KLB | 152831 | klotho beta | Q86Z14 |
| C0022104 | Irritable Bowel Syndrome | KLB | 152831 | klotho beta | Q86Z14 |
| C1704272 | Benign Prostatic Hyperplasia | KLB | 152831 | klotho beta | Q86Z14 |
| C0011847 | Diabetes | KLB | 152831 | klotho beta | Q86Z14 |
| C0035078 | Kidney Failure | KLB | 152831 | klotho beta | Q86Z14 |
| C0040136 | Thyroid Neoplasm | KLB | 152831 | klotho beta | Q86Z14 |
| C0238461 | Anaplastic thyroid carcinoma | KLB | 152831 | klotho beta | Q86Z14 |
| C0268318 | Cholestasis of pregnancy | KLB | 152831 | klotho beta | Q86Z14 |
| C0085207 | Gestational Diabetes | KLB | 152831 | klotho beta | Q86Z14 |
| C2711227 | Steatohepatitis | KLB | 152831 | klotho beta | Q86Z14 |
| C0011991 | Diarrhea | KLB | 152831 | klotho beta | Q86Z14 |
| C0025517 | Metabolic Diseases | KLB | 152831 | klotho beta | Q86Z14 |
| C3554349 | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9 | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C0079154 | Congenital Nonbullous Ichthyosiform Erythroderma | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C0020758 | Congenital ichthyosis | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C0013336 | Dwarfism | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C1384666 | hearing impairment | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
| C4551675 | Keratoderma, Palmoplantar | CERS3 | 204219 | ceramide synthase 3 | Q8IU89 |
