SALL1, spalt like transcription factor 1, 6299

N. diseases: 156; N. variants: 16
Disease: TOWNES-BROCKS SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 CausalMutation disease CLINVAR Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders. 26380986 2015
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 Biomarker disease MGD SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes. 18470945 2008
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 Biomarker disease MGD Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. 12915476 2003
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 CausalMutation disease CLINVAR High incidence of the R276X SALL1 mutation in sporadic but not familial Townes-Brocks syndrome and report of the first familial case. 14627694 2003
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient. 10533063 1999
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND Molecular analysis of SALL1 mutations in Townes-Brocks syndrome. 9973281 1999
CUI: C4551481
Disease: TOWNES-BROCKS SYNDROME 1
TOWNES-BROCKS SYNDROME 1 		0.600 Biomarker disease GENOMICS_ENGLAND