Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.020 GeneticVariation disease BEFREE Microdeletions in the 1q44 region encompassing the HNRNPU gene have been associated with infantile spasms and hemiconvulsion-hemiplegia-epilepsy syndrome. 29858110 2018
CUI: C0037769
Disease: West Syndrome
West Syndrome
0.020 GeneticVariation disease BEFREE In particular, our study implicates the HNRNPU and MBD5 genes in Chinese children with IS. 24885232 2014