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 |
---|---|---|---|---|---|
C1306459 | Primary malignant neoplasm | LARGE2 | 120071 | LARGE xylosyl- and glucuronyltransferase 2 | Q8N3Y3 |
C1853296 | SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C1458155 | Mammary Neoplasms | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0013393 | Dysostoses | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0235833 | Congenital diaphragmatic hernia | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0346647 | Malignant neoplasm of pancreas | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0010417 | Cryptorchidism | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C4551905 | Pulmonary Venous Return Anomaly | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0235974 | Pancreatic carcinoma | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0265343 | Jarcho-Levin syndrome | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0008925 | Cleft Palate | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0342788 | Renal carnitine transport defect | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0000768 | Congenital Abnormality | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0025958 | Microcephaly | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0015934 | Fetal Growth Retardation | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0019294 | Hernia, Inguinal | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C1261470 | Congenital meningocele | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C1837549 | SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2 | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0036439 | Scoliosis, unspecified | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0013336 | Dwarfism | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0029422 | Osteochondrodysplasias | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0080174 | Spina Bifida Occulta | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0848558 | Hypospadias | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C3714756 | Intellectual Disability | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
C0265677 | Congenital hemivertebra | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
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Last updated: August 19, 2024