Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1839564
Disease: Jensen syndrome
Jensen syndrome
0.510 Biomarker disease CTD_human We identified a stop mutation (E24X) in the TIMM8a gene segregating with the disease in the original Danish family with the Jensen syndrome, which confirms that the two disorders are allelic conditions. 11803487 2001
CUI: C1839564
Disease: Jensen syndrome
Jensen syndrome
0.510 GeneticVariation disease BEFREE We identified a stop mutation (E24X) in the TIMM8a gene segregating with the disease in the original Danish family with the Jensen syndrome, which confirms that the two disorders are allelic conditions. 11803487 2001
CUI: C1839564
Disease: Jensen syndrome
Jensen syndrome
0.510 Biomarker disease GENOMICS_ENGLAND