SBF1, SET binding factor 1, 6305

N. diseases: 34; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3695063
Disease: Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4B3 		0.720 GeneticVariation disease BEFREE Our findings suggest that SBF1 mutations may cause a syndromic form of autosomal recessive axonal neuropathy (AR-CMT2) in addition to CMT4B3. 28005197 2017
CUI: C3695063
Disease: Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4B3 		0.720 Biomarker disease GENOMICS_ENGLAND Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies. 28902413 2017
CUI: C3695063
Disease: Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4B3 		0.720 Biomarker disease GENOMICS_ENGLAND SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3. 24799518 2014
CUI: C3695063
Disease: Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4B3 		0.720 GeneticVariation disease BEFREE SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. 23749797 2013
CUI: C3695063
Disease: Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4B3 		0.720 GeneticVariation disease UNIPROT SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. 23749797 2013
CUI: C3695063
Disease: Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4B3 		0.720 GermlineCausalMutation disease ORPHANET SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. 23749797 2013
CUI: C3695063
Disease: Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4B3 		0.720 CausalMutation disease CLINVAR
CUI: C3695063
Disease: Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4B3 		0.720 Biomarker disease CTD_human
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.140 GeneticVariation disease BEFREE SBF1 missense mutations were shown to underlie Charcot-Marie-Tooth (CMT) type 4B3 disease, a rare autosomal recessive subtype of CMT4. 30039846 2018
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.140 GeneticVariation disease BEFREE Biallelic mutations in the SBF1 gene have been identified in one family with demyelinating Charcot-Marie-Tooth disease (CMT4B3) and two families with axonal neuropathy and additional neurological and skeletal features. 28005197 2017
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.140 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 		0.140 GeneticVariation disease BEFREE It defines a family of at least nine genes in man, including the antiphosphatase hMTMR5/Sbf1 and hMTMR2, recently found mutated in a recessive form of Charcot-Marie-Tooth disease. 11001925 2000
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.140 GeneticVariation disease CLINVAR
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.100 GeneticVariation disease CLINVAR Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations. 30763456 2019
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 GeneticVariation disease GWASDB Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations. 21211798 2011
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		0.100 Biomarker phenotype HPO
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		0.100 Biomarker phenotype HPO
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		0.100 Biomarker phenotype HPO
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		0.100 Biomarker phenotype HPO