SFMBT1, Scm like with four mbt domains 1, 51460

N. diseases: 24; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.100 GeneticVariation phenotype GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
CUI: C0206644
Disease: Histiocytoma, Benign Fibrous
Histiocytoma, Benign Fibrous 		0.010 Biomarker disease BEFREE The data support a neoplastic genesis of aneurysmal benign fibrous histiocytoma and indicate a pathogenetic role for LAMTOR1-PRKCD and NUMA1-SFMBT1. 26432191 2015
CUI: C1955760
Disease: Idiopathic normal pressure hydrocephalus (INPH)
Idiopathic normal pressure hydrocephalus (INPH) 		0.010 GeneticVariation disease BEFREE The present study demonstrates that a copy number loss within intron 2 of the SFMBT1 gene may be a genetic risk factor for shunt-responsive definite iNPH. 27861535 2016
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 PosttranslationalModification group BEFREE These results highlight a critical role of SFMBT1 in epigenetic regulation, EMT, and cancer. 23928305 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 PosttranslationalModification group BEFREE These results highlight a critical role of SFMBT1 in epigenetic regulation, EMT, and cancer. 23928305 2013
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		0.010 Biomarker disease BEFREE Unlike other mammalian MBT domain proteins characterized to date that selectively recognize mono- and dimethylated lysines, SFMBT1 binds di- and trimethyl H3K4, both of which are enriched at active promoters. 23928305 2013
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017