TBC1D20, TBC1 domain family member 20, 128637

N. diseases: 79; N. variants: 4
Disease: Freeman-Sheldon syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.200 Biomarker disease MGD Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. 24239381 2013
CUI: C0265224
Disease: Freeman-Sheldon syndrome
Freeman-Sheldon syndrome 		0.200 Biomarker disease MGD Production of fertile offspring from genetically infertile male mice. 14757819 2004