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 41826 - 41850 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Gene Name UniProt ID
C0575158 Kyphoscoliosis deformity of spine PMM2 5373 phosphomannomutase 2 O15305
C0007786 Brain Ischemia PMM2 5373 phosphomannomutase 2 O15305
C3887499 Renal cyst PMM2 5373 phosphomannomutase 2 O15305
C0031046 Pericarditis PMM2 5373 phosphomannomutase 2 O15305
C0010964 Dandy-Walker Syndrome PMM2 5373 phosphomannomutase 2 O15305
C1956257 Pulmonary Stenosis PMM2 5373 phosphomannomutase 2 O15305
C0031117 Peripheral Neuropathy PMM2 5373 phosphomannomutase 2 O15305
C0003469 Anxiety Disorders PMM2 5373 phosphomannomutase 2 O15305
C0024236 Lymphedema PMM2 5373 phosphomannomutase 2 O15305
C0948896 Primary hypogonadism PMM2 5373 phosphomannomutase 2 O15305
C0002395 Alzheimer's Disease PMM2 5373 phosphomannomutase 2 O15305
C0015695 Fatty Liver PMM2 5373 phosphomannomutase 2 O15305
C4317224 Congenital disorder of glycosylation type 1q PMM2 5373 phosphomannomutase 2 O15305
C0010417 Cryptorchidism PMM2 5373 phosphomannomutase 2 O15305
C0025517 Metabolic Diseases PMM2 5373 phosphomannomutase 2 O15305
C0036341 Schizophrenia PMM2 5373 phosphomannomutase 2 O15305
C0020676 Hypothyroidism PMM2 5373 phosphomannomutase 2 O15305
C0027726 Nephrotic Syndrome PMM2 5373 phosphomannomutase 2 O15305
C0018802 Congestive heart failure CNTN5 53942 contactin 5 O94779
C0019569 Hirschsprung Disease CNTN5 53942 contactin 5 O94779
C0003125 Anorexia Nervosa CNTN5 53942 contactin 5 O94779
C0003868 Arthritis, Gouty CNTN5 53942 contactin 5 O94779
C0005586 Bipolar Disorder CNTN5 53942 contactin 5 O94779
C0036341 Schizophrenia CNTN5 53942 contactin 5 O94779
C1510586 Autism Spectrum Disorders CNTN5 53942 contactin 5 O94779

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Last updated: August 19, 2024