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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 |
|---|---|---|---|---|---|
| C4721610 | Carcinoma, Ovarian Epithelial | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0005586 | Bipolar Disorder | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C1337013 | Differentiated Thyroid Gland Carcinoma | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0036341 | Schizophrenia | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0265216 | X-linked hydrocephalus syndrome | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C1510586 | Autism Spectrum Disorders | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C3489532 | Cone-Rod Dystrophy 2 | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0019569 | Hirschsprung Disease | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C1263846 | Attention deficit hyperactivity disorder | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0006142 | Malignant neoplasm of breast | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0020255 | Hydrocephalus | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0014544 | Epilepsy | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0027651 | Neoplasms | ERLEC1 | 27248 | endoplasmic reticulum lectin 1 | Q96DZ1 |
| C0242379 | Malignant neoplasm of lung | ERLEC1 | 27248 | endoplasmic reticulum lectin 1 | Q96DZ1 |
| C0003125 | Anorexia Nervosa | ERLEC1 | 27248 | endoplasmic reticulum lectin 1 | Q96DZ1 |
| C0684249 | Carcinoma of lung | ERLEC1 | 27248 | endoplasmic reticulum lectin 1 | Q96DZ1 |
| C0039144 | Syringomyelia | ERLEC1 | 27248 | endoplasmic reticulum lectin 1 | Q96DZ1 |
| C0008370 | Cholestasis | ERLEC1 | 27248 | endoplasmic reticulum lectin 1 | Q96DZ1 |
| C0085131 | Gangliosidosis GM1 | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0086652 | Mucopolysaccharidosis type IVB | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0017638 | Glioma | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0013336 | Dwarfism | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C2718068 | beta-Galactosidase Deficiency | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0268272 | Gangliosidosis, Generalized GM1, Type 2 | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0038015 | Spondyloepiphyseal Dysplasia | GLB1 | 2720 | galactosidase beta 1 | P16278 |
