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
Displaying entries 47426 - 47450 of 62743 in total
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