SBF2, SET binding factor 2, 81846

N. diseases: 77; N. variants: 78
Disease: Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858280
Disease: Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma
Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma 		0.200 Biomarker disease MGD Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice. 18349142 2008
CUI: C1858280
Disease: Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma
Charcot-Marie-Tooth Neuropathy, Type 4B2, with Early-Onset Glaucoma 		0.200 Biomarker disease MGD Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. 17855448 2007