SALL1, spalt like transcription factor 1, 6299

N. diseases: 156; N. variants: 16
Disease: Townes-Brocks-Branchiootorenal-Like Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1862683
Disease: Townes-Brocks-Branchiootorenal-Like Syndrome
Townes-Brocks-Branchiootorenal-Like Syndrome 		0.300 Biomarker disease MGD SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. 18470945 2008
CUI: C1862683
Disease: Townes-Brocks-Branchiootorenal-Like Syndrome
Townes-Brocks-Branchiootorenal-Like Syndrome 		0.300 Biomarker disease MGD Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. 12915476 2003
CUI: C1862683
Disease: Townes-Brocks-Branchiootorenal-Like Syndrome
Townes-Brocks-Branchiootorenal-Like Syndrome 		0.300 CausalMutation disease CLINVAR