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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 |
|---|---|---|---|---|---|
| C0018784 | Sensorineural Hearing Loss (disorder) | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0205700 | Asymmetric Septal Hypertrophy | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0233794 | Memory impairment | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0020505 | Hyperphagia | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0086795 | Pfaundler-Hurler Syndrome | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0022578 | Keratoconus | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0020459 | Hyperinsulinism | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0038273 | Stereotypic Movement Disorder | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0028077 | Nyctalopia | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0020619 | Hypogonadism | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0521694 | Atrophic retina | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C0086648 | MPS III B | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
| C1306459 | Primary malignant neoplasm | PIP5KL1 | 138429 | phosphatidylinositol-4-phosphate 5-kinase like 1 | Q5T9C9 |
| C0154060 | Carcinoma in situ of stomach | PIP5KL1 | 138429 | phosphatidylinositol-4-phosphate 5-kinase like 1 | Q5T9C9 |
| C0006826 | Malignant Neoplasms | PIP5KL1 | 138429 | phosphatidylinositol-4-phosphate 5-kinase like 1 | Q5T9C9 |
| C0007847 | Malignant tumor of cervix | PIP5KL1 | 138429 | phosphatidylinositol-4-phosphate 5-kinase like 1 | Q5T9C9 |
| C0027651 | Neoplasms | PIP5KL1 | 138429 | phosphatidylinositol-4-phosphate 5-kinase like 1 | Q5T9C9 |
| C0699791 | Stomach Carcinoma | PIP5KL1 | 138429 | phosphatidylinositol-4-phosphate 5-kinase like 1 | Q5T9C9 |
| C0848558 | Hypospadias | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0520947 | Clumsiness - motor delay | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0004930 | Behavior Disorders | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0600139 | Prostate carcinoma | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0016667 | Fragile X Syndrome | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C2239176 | Liver carcinoma | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0000768 | Congenital Abnormality | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
