Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.060 AlteredExpression disease BEFREE TFEB is a member of the microphthalmia family of bHLH-LZ transcription factors that includes other members such as micropthalmia-associated transcription factor (MITF), TFE3, and TFEC. 31160892 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.060 Biomarker disease BEFREE Microphthalmia Transcription Factor (MITF)family translocation renal cell carcinoma (tRCC) is a rare RCC subtype harboring TFE3/TFEB translocations. 30591082 2018
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.060 Biomarker disease BEFREE TFE3 and TFEB are members of the microphthalmia transcription factor (MiT) family, which regulates differentiation in melanocytes and osteoclasts, and MiT family gene fusions activate unique molecular programs that can be detected immunohistochemically. 26414466 2015
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.060 Biomarker disease BEFREE Both TFE3 and TFEB are closely related members of the microphthalmia transcription factor/TFE-family, which also includes TFEC and microphthalmia transcription factor. 19396149 2009
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.060 Biomarker disease BEFREE Among the transcription factors of the bHLH-Zip family, TFE3 and TFEB show a remarkably elevated homology with Microphthalmia. 10707962 2000
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
0.060 AlteredExpression disease BEFREE In addition TFE3, a b-HLH-ZIP transcription factor related to Mi, was found to be expressed in osteoclasts, but not osteoblasts, and to coimmunoprecipitate with Mi. 9480987 1998