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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 ▼ |
|---|---|---|---|---|---|
| C0017601 | Glaucoma | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C3714581 | Multicystic Dysplastic Kidney | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0005745 | Blepharoptosis | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0036439 | Scoliosis, unspecified | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0152101 | Hypoplastic Left Heart Syndrome | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0027092 | Myopia | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0266551 | Congenital coloboma of iris | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1531647 | Cerebral ventriculomegaly | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0265677 | Congenital hemivertebra | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0015934 | Fetal Growth Retardation | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1384666 | hearing impairment | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0020224 | Polyhydramnios | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0036572 | Seizures | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C3714756 | Intellectual Disability | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1510586 | Autism Spectrum Disorders | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0010038 | Corneal Opacity | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0266544 | Microcornea | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0018818 | Ventricular Septal Defects | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0029124 | Optic Atrophy | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0699790 | Colon Carcinoma | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0004096 | Asthma | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0042870 | Vitamin D Deficiency | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0239946 | Fibrosis, Liver | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0238463 | Papillary thyroid carcinoma | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0001418 | Adenocarcinoma | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
