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 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 CLINVAR
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
CUI: C4082197
Disease: Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease type 4 		0.100 GeneticVariation disease CLINVAR
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE SBF-1, a synthetic steroidal glycoside, inhibits melanoma growth and metastasis through blocking interaction between PDK1 and AKT3. 22525724 2012
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 Biomarker disease GENOMICS_ENGLAND SET binding factor 1 (SBF1) mutation causes Charcot-Marie-tooth disease type 4B3. 24799518 2014
CUI: C1854510
Disease: Abnormality of the cranial nerves
Abnormality of the cranial nerves 		0.010 GeneticVariation disease BEFREE SBF1 mutations associated with autosomal recessive axonal neuropathy with cranial nerve involvement. 28005197 2017
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: 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: 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: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.010 Biomarker disease BEFREE DNA microarray reveals ZNF195 and SBF1 are potential biomarkers for gemcitabine sensitivity in head and neck squamous cell carcinoma cell lines. 24817947 2014
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