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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 ▼ |
|---|---|---|---|---|---|
| C0524620 | Metabolic Syndrome X | COLEC12 | 81035 | collectin subfamily member 12 | Q5KU26 |
| C0740858 | Substance abuse problem | COLEC12 | 81035 | collectin subfamily member 12 | Q5KU26 |
| C0038580 | Substance Dependence | COLEC12 | 81035 | collectin subfamily member 12 | Q5KU26 |
| C0026848 | Myopathy | COLEC12 | 81035 | collectin subfamily member 12 | Q5KU26 |
| C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | COLEC12 | 81035 | collectin subfamily member 12 | Q5KU26 |
| C0038586 | Substance Use Disorders | COLEC12 | 81035 | collectin subfamily member 12 | Q5KU26 |
| C0003850 | Arteriosclerosis | COLEC12 | 81035 | collectin subfamily member 12 | Q5KU26 |
| C0013222 | Drug Use Disorders | COLEC12 | 81035 | collectin subfamily member 12 | Q5KU26 |
| 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 |
| C0010068 | Coronary heart disease | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0036857 | Severe intellectual disability | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0220597 | Adult Hodgkin Lymphoma | HABP4 | 22927 | hyaluronan binding protein 4 | Q5JVS0 |
| C0019829 | Hodgkin Disease | HABP4 | 22927 | hyaluronan binding protein 4 | Q5JVS0 |
| C0023976 | Long QT Syndrome | ALG10B | 144245 | ALG10 alpha-1,2-glucosyltransferase B | Q5I7T1 |
| C0003811 | Cardiac Arrhythmia | ALG10B | 144245 | ALG10 alpha-1,2-glucosyltransferase B | Q5I7T1 |
| C3150943 | Long Qt Syndrome 2 | ALG10B | 144245 | ALG10 alpha-1,2-glucosyltransferase B | Q5I7T1 |
| C4551902 | Craniosynostosis, Type 1 | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0795830 | CHROMOSOME 9p DELETION SYNDROME | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0265425 | 9p partial monosomy syndrome | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
