SBF2, SET binding factor 2, 81846

N. diseases: 77; N. variants: 78
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
CUI: C1858279
Disease: Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma 		0.310 GeneticVariation disease BEFREE Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma (CMT4B2, OMIM 604563) is a genetically-heterogeneous childhood-onset neuromuscular disorder. 25462154 2014
CUI: C1858279
Disease: Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma 		0.310 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: C1858279
Disease: Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma 		0.310 Biomarker disease MGD Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. 17855448 2007
CUI: C1858279
Disease: Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma
Charcot-Marie-Tooth disease, Type 4B2, with early-onset glaucoma 		0.310 CausalMutation disease CLINVAR
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 GeneticVariation disease BEFREE Although the signal was not of genome-wide significance due to the small number of cases, the <i>SBF2</i> (also known as <i>MTMR13)</i> gene within the region of shared case homozygosity was a strong positional candidate, as 22 genetic variants in the gene have been associated with demyelinating forms of Charcot-Marie-Tooth disease in humans. 31772832 2019
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 GeneticVariation disease BEFREE CMT4B1 patients had significantly more-severe disease than CMT4B2, with earlier onset, more-frequent motor milestones delay, wheelchair use, and respiratory involvement as well as worse MRC scores and motor CMT Examination Score components despite younger age at examination. 31070812 2019
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 GeneticVariation disease BEFREE Inherited mutations in SBF2 have previously been associated with autosomal recessive, Type 4B2 Charcot-Marie-Tooth (CMT) disease. 27732968 2016
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 GeneticVariation disease BEFREE The fact that this mutation is found in SBF2 gene may indicate that the underlying cause of thrombocytopenia in our patient is either a new variant form of Griscelli syndrome (through the Rab GTPases action) or a variant Charcot-Marie-Tooth type 4 disease as SBF2 truncating mutations were previously identified in sufferers of this disease. 23334996 2013
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 Biomarker disease BEFREE The PtdIns3P and PtdIns(3,5)P(2) 3-phosphatase myotubularin gene is mutated in X-linked centronuclear myopathy, whereas its homologs MTMR2 and MTMR13 and the PtdIns(3,5)P(2) 5-phosphatase SAC3/FIG4 are implicated in Charcot-Marie-Tooth peripheral neuropathies. 18429927 2008
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 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: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 Biomarker disease BEFREE Loss of either MTMR2 or MTMR13 causes Charcot-Marie-Tooth type 4B1 and B2 neuropathy, respectively, characterized by demyelination and redundant loops of myelin known as myelin outfoldings. 17917119 2007
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 Biomarker disease MGD Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. 17855448 2007
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 GeneticVariation disease BEFREE Mutations in myotubularin-related protein-2 (MTMR2) or MTMR13/set-binding factor-2 (SBF2) genes are responsible for the severe autosomal recessive hereditary neuropathies, Charcot-Marie-Tooth disease (CMT) types 4B1 and 4B2, both characterized by reduced nerve conduction velocities, focally folded myelin sheaths and demyelination. 16399794 2006
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 GeneticVariation disease LHGDN The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. 15998640 2005
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 GeneticVariation disease BEFREE The authors report a Japanese family segregating autosomal recessive Charcot-Marie-Tooth disease (CMT) with focally folded myelin, juvenile-onset glaucoma, and a nonsense mutation of SET binding factor 2 (SBF2). 15304601 2004