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 44401 - 44425 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Gene Name UniProt ID
C0017601 Glaucoma PRNP 5621 prion protein F7VJQ1
C0001889 Akinetic Mutism PRNP 5621 prion protein F7VJQ1
C0002895 Anemia, Sickle Cell PRNP 5621 prion protein F7VJQ1
C0027051 Myocardial Infarction PRNP 5621 prion protein F7VJQ1
C0028738 Nystagmus PRNP 5621 prion protein F7VJQ1
C0038454 Cerebrovascular accident PRNP 5621 prion protein F7VJQ1
C1332986 Childhood Osteosarcoma PRNP 5621 prion protein F7VJQ1
C0162311 Androgenetic Alopecia PRNP 5621 prion protein F7VJQ1
C0017609 Glaucoma, Neovascular PRNP 5621 prion protein F7VJQ1
C0009806 Constipation PRNP 5621 prion protein F7VJQ1
C1969957 Creutzfeldt-Jakob Disease, Heidenhain Variant PRNP 5621 prion protein F7VJQ1
C0002170 Alopecia PRNP 5621 prion protein F7VJQ1
C0751772 REM Sleep Behavior Disorder PRNP 5621 prion protein F7VJQ1
C4083212 Alopecia, Male Pattern PRNP 5621 prion protein F7VJQ1
C0013473 Eating Disorders GPCPD1 56261 glycerophosphocholine phosphodiesterase 1 Q9NPB8
C0028754 Obesity GPCPD1 56261 glycerophosphocholine phosphodiesterase 1 Q9NPB8
C0476089 Endometrial Carcinoma GPCPD1 56261 glycerophosphocholine phosphodiesterase 1 Q9NPB8
C0018784 Sensorineural Hearing Loss (disorder) PRPS1 5631 phosphoribosyl pyrophosphate synthetase 1 P60891
C1384666 hearing impairment PRPS1 5631 phosphoribosyl pyrophosphate synthetase 1 P60891
C0267952 Fibrosis of pancreas PRPS1 5631 phosphoribosyl pyrophosphate synthetase 1 P60891
C0029124 Optic Atrophy PRPS1 5631 phosphoribosyl pyrophosphate synthetase 1 P60891
C0221166 Paraparesis PRPS1 5631 phosphoribosyl pyrophosphate synthetase 1 P60891
C1839566 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 PRPS1 5631 phosphoribosyl pyrophosphate synthetase 1 P60891
C0796028 ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION PRPS1 5631 phosphoribosyl pyrophosphate synthetase 1 P60891
C0015934 Fetal Growth Retardation PRPS1 5631 phosphoribosyl pyrophosphate synthetase 1 P60891

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Last updated: August 19, 2024