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: C1955861
Disease: T-Cell Large Granular Lymphocyte Leukemia
T-Cell Large Granular Lymphocyte Leukemia 		0.010 Biomarker disease BEFREE Two novel fusion transcripts were identified: CASP8-ERBB4 in MOTN-1 and SBF1-PKHD1L1 in T-LGL patient. 24649974 2014
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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.010 Biomarker phenotype BEFREE The novel SBF1 null mutation highlights distinct severe phenotypic manifestations, broadening the clinical spectrum of SBF1-related neuropathies: cerebellar and pyramidal signs evident in the first months of life with peripheral polyneuropathy emerging only toward the end of the first decade, together with unique MRI findings. 30039846 2018
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.010 Biomarker disease BEFREE The novel SBF1 null mutation highlights distinct severe phenotypic manifestations, broadening the clinical spectrum of SBF1-related neuropathies: cerebellar and pyramidal signs evident in the first months of life with peripheral polyneuropathy emerging only toward the end of the first decade, together with unique MRI findings. 30039846 2018
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		0.010 GeneticVariation group BEFREE It is striking to note that mutations in MTMR13 also cause peripheral neuropathy with myelin outfoldings, although it belongs to a pseudophosphatase subgroup, since its closest homologue is MTMR5/Sbf1. 12687498 2003
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.010 GeneticVariation group BEFREE It is striking to note that mutations in MTMR13 also cause peripheral neuropathy with myelin outfoldings, although it belongs to a pseudophosphatase subgroup, since its closest homologue is MTMR5/Sbf1. 12687498 2003
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation 		0.100 Biomarker phenotype HPO
CUI: C0442874
Disease: Neuropathy
Neuropathy 		0.010 GeneticVariation group BEFREE The novel SBF1 null mutation highlights distinct severe phenotypic manifestations, broadening the clinical spectrum of SBF1-related neuropathies: cerebellar and pyramidal signs evident in the first months of life with peripheral polyneuropathy emerging only toward the end of the first decade, together with unique MRI findings. 30039846 2018
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: 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: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0025202
Disease: melanoma
melanoma 		0.010 Biomarker disease BEFREE In a mouse model of spontaneous metastasis, SBF-1 at very low doses of 1 and 3 μg/kg enormously inhibited melanoma metastasis into draining popliteal lymph nodes. 22525724 2012
CUI: C0023827
Disease: liposarcoma
liposarcoma 		0.010 Biomarker disease BEFREE In the present study, we reported that SBF-1, a steroidal glycoside, inhibited the growth of cultured highly malignant human liposarcoma SW872-S cells in vitro and in vivo. 30415825 2018
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.100 GeneticVariation disease GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.100 Biomarker group HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0427055
Disease: Facial Paresis
Facial Paresis 		0.010 GeneticVariation phenotype BEFREE Here we describe novel sequence variants in SBF1 (c.1168C>G and c.2209_2210del) as the potential causative mutations in two siblings with severe axonal neuropathy, hearing loss, facial weakness and bulbar features. 28005197 2017
CUI: C3711383
Disease: Early-Onset Glaucoma
Early-Onset Glaucoma 		0.010 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: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		0.100 Biomarker phenotype HPO
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		0.100 Biomarker phenotype HPO
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE We also provided a novel HIBCH inhibitor SBF-1, which highlighted the combined therapy using valine catabolic inhibitor along with anti-VEGF drugs, to control progression of CRC. 31409769 2019
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma 		0.010 Biomarker disease BEFREE In the present study, we reported that SBF-1, a steroidal glycoside, inhibited the growth of cultured highly malignant human liposarcoma SW872-S cells in vitro and in vivo. 30415825 2018