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 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 GeneticVariation disease BEFREE Novel SBF2 mutations and clinical spectrum of Charcot-Marie-Tooth neuropathy type 4B2. 30028002 2018
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: 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 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
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 BEFREE 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: 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 SBF2 is a member of the pseudo-phosphatase branch of myotubularins and was an obvious candidate for CMT4B2 by virtue of its striking homology to myotubularin-related protein 2 (MTMR2), causing another form of autosomal recessive CMT with outfoldings of the myelin sheaths. 12554688 2003
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 GeneticVariation disease LHGDN 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: 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 LHGDN A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). 15477569 2004
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 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: C0017601
Disease: Glaucoma
Glaucoma 		0.140 GeneticVariation disease BEFREE Consequently, SBF2 mutation analysis should not be restricted to individuals with coincident neuropathy and glaucoma, and CMT4B2 patients without glaucoma should be followed for increased intraocular pressure. 30028002 2018
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.140 GeneticVariation disease BEFREE The consistent phenotypic features associated with SBF2 mutations are early-onset demyelinating neuropathy, myelin folding, and markedly decreased motor nerve conduction velocities; glaucoma associates with SBF2 nonsense mutations. 15304601 2004
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.140 GeneticVariation disease LHGDN 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.110 GeneticVariation disease GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.110 GeneticVariation disease BEFREE The aim of this research was to study whether polymorphisms of CHCHD3P1-HSP90AB7P, GRID1, HSPA12A, PRLHR, SBF2, POLD3 and C11orf93-C11orf92 genes are associated with the risk of gastric and colorectal cancers in the Chinese Han population. 26302849 2015
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.110 GeneticVariation disease GWASCAT Genome-wide association study of survival in patients with pancreatic adenocarcinoma. 23180869 2014
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.110 GeneticVariation disease GWASCAT Genetic polymorphisms associated with pancreatic cancer survival: a genome-wide association study. 28470677 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.110 GeneticVariation disease GWASDB Genome-wide association study of survival in patients with pancreatic adenocarcinoma. 23180869 2014
CUI: C0001925
Disease: Albuminuria
Albuminuria 		0.100 GeneticVariation phenotype GWASCAT Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure. 30220432 2018
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.100 GeneticVariation disease GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019