FIG4, FIG4 phosphoinositide 5-phosphatase, 9896

N. diseases: 223; N. variants: 32
Disease: Thumb aplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		0.400 Biomarker disease GENOMICS_ENGLAND Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase. 23623387 2013
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia 		0.400 Biomarker disease HPO