SKIV2L, Ski2 like RNA helicase, 6499

N. diseases: 96; N. variants: 24
Disease: Diarrhea ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.110 Biomarker phenotype BEFREE We therefore suggest that SKIV2L testing should be considered in cases otherwise suggestive of THES, but without the characteristic diarrhoea. 30844479 2019
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.110 Biomarker phenotype HPO