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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol | Gene ID | Gene Name ▼ | UniProt ID |
---|---|---|---|---|---|
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 |
C0018021 | Goiter | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C0024305 | Lymphoma, Non-Hodgkin | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C0002736 | Amyotrophic Lateral Sclerosis | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C1851585 | MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C0005859 | Bloom Syndrome | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C0242379 | Malignant neoplasm of lung | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C0027709 | Nephrocalcinosis | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C0520739 | Hereditary pyropoikilocytosis | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C1848200 | SUBCORTICAL BAND HETEROTOPIA, X-LINKED | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C0268412 | Infantile hypophosphatasia | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C0007102 | Malignant tumor of colon | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C0029456 | Osteoporosis | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C0265534 | Scaphycephaly | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
C0699790 | Colon Carcinoma | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
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Last updated: August 19, 2024