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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 |
|---|---|---|---|---|---|
| C0022541 | Kearns-Sayre syndrome | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C1384666 | hearing impairment | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0002395 | Alzheimer's Disease | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0268263 | Multiple Sulfatase Deficiency Disease | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0011880 | Diabetic Ketoacidosis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0019572 | Hirsutism | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0014518 | Toxic Epidermal Necrolysis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0028738 | Nystagmus | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0011991 | Diarrhea | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0270707 | Kluver-Bucy Syndrome | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C4048196 | beta-Mannosidosis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0205700 | Asymmetric Septal Hypertrophy | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0086649 | MPS III C | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0036572 | Seizures | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0003125 | Anorexia Nervosa | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C2931845 | Neurodegeneration with brain iron accumulation (NBIA) | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0038013 | Ankylosing spondylitis | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0007682 | CNS disorder | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C0020295 | Hydronephrosis | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0018816 | Heart Septal Defects | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0021171 | Bloch Sulzberger syndrome | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0282102 | Chondrodysplasia punctata, X-linked dominant type | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1168401 | Squamous cell carcinoma of the head and neck | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0008924 | Cleft upper lip | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0008445 | Chondrodysplasia Punctata | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
