SBF2, SET binding factor 2, 81846

N. diseases: 77; N. variants: 78
Disease: Charcot-Marie-Tooth disease, Type 4B2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1858278
Disease: Charcot-Marie-Tooth disease, Type 4B2
Charcot-Marie-Tooth disease, Type 4B2 		0.740 Biomarker disease BEFREE An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination. 30419760 2019
CUI: C1858278
Disease: Charcot-Marie-Tooth disease, Type 4B2
Charcot-Marie-Tooth disease, Type 4B2 		0.740 GeneticVariation disease BEFREE Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2. 30028002 2018
CUI: C1858278
Disease: Charcot-Marie-Tooth disease, Type 4B2
Charcot-Marie-Tooth disease, Type 4B2 		0.740 GeneticVariation disease BEFREE Identification of a novel SBF2 frameshift mutation in charcot-marie-tooth disease type 4B2 using whole-exome sequencing. 25462154 2014
CUI: C1858278
Disease: Charcot-Marie-Tooth disease, Type 4B2
Charcot-Marie-Tooth disease, Type 4B2 		0.740 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: C1858278
Disease: Charcot-Marie-Tooth disease, Type 4B2
Charcot-Marie-Tooth disease, Type 4B2 		0.740 Biomarker disease MGD Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. 17855448 2007
CUI: C1858278
Disease: Charcot-Marie-Tooth disease, Type 4B2
Charcot-Marie-Tooth disease, Type 4B2 		0.740 Biomarker disease BEFREE Loss of MTMR13 function in CMT4B2 patients may lead to alterations in MTMR2 function and subsequent alterations in 3-phosphoinositide signaling. 15998640 2005
CUI: C1858278
Disease: Charcot-Marie-Tooth disease, Type 4B2
Charcot-Marie-Tooth disease, Type 4B2 		0.740 Biomarker disease GENOMICS_ENGLAND Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. 12554688 2003
CUI: C1858278
Disease: Charcot-Marie-Tooth disease, Type 4B2
Charcot-Marie-Tooth disease, Type 4B2 		0.740 Biomarker disease GENOMICS_ENGLAND Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. 12687498 2003
CUI: C1858278
Disease: Charcot-Marie-Tooth disease, Type 4B2
Charcot-Marie-Tooth disease, Type 4B2 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1858278
Disease: Charcot-Marie-Tooth disease, Type 4B2
Charcot-Marie-Tooth disease, Type 4B2 		0.740 Biomarker disease CTD_human