SALL4, spalt like transcription factor 4, 57167

N. diseases: 245; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		1.000 GeneticVariation disease BEFREE Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. 12395297 2002
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		1.000 GeneticVariation disease UNIPROT Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. 12395297 2002
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		1.000 GeneticVariation disease UNIPROT Okihiro syndrome is caused by SALL4 mutations. 12393809 2002
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. 6426304 1984
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C1327918
Disease: Oculootoradial syndrome
Oculootoradial syndrome 		0.610 GermlineCausalMutation disease ORPHANET Since 2002, mutations in the SALL4 locus have been reported producing phenotypic features quite similar to those in IVIC syndrome; this gene was thus proposed as a candidate for the condition. 17256792 2007
CUI: C1327918
Disease: Oculootoradial syndrome
Oculootoradial syndrome 		0.610 GeneticVariation disease BEFREE Since 2002, mutations in the SALL4 locus have been reported producing phenotypic features quite similar to those in IVIC syndrome; this gene was thus proposed as a candidate for the condition. 17256792 2007
CUI: C1327918
Disease: Oculootoradial syndrome
Oculootoradial syndrome 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C1327918
Disease: Oculootoradial syndrome
Oculootoradial syndrome 		0.610 Biomarker disease CTD_human
CUI: C1327918
Disease: Oculootoradial syndrome
Oculootoradial syndrome 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 Biomarker disease CTD_human Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome. 30067223 2018
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3 		0.500 Biomarker disease CTD_human Thalidomide promotes degradation of SALL4, a transcription factor implicated in Duane Radial Ray syndrome. 30067223 2018
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 GeneticVariation disease BEFREE Haploinsufficiency for SALL4 due to nonsense or frameshift mutations has been associated with acro-renal ocular syndrome that is characterized by eye defects including Duane anomaly and coloboma, in addition to radial ray malformations and renal abnormalities. 27661448 2017
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 GeneticVariation disease BEFREE We identified a novel truncating mutation in the SALL4 gene that leads to diversified clinical features of DRS in a Chinese family. 23687435 2013
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 GeneticVariation disease BEFREE In this prospective, non-interventional study we screened for SALL4 mutations in 72 patients clinically diagnosed as having isolated DRS or DRS associated syndromes. 21405998 2011
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 Biomarker disease LHGDN Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay. 17623483 2007
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 GeneticVariation disease BEFREE In prior studies, the transcription factors SALL4 and HOXA1 were identified as the genes mutated in DRS with radial anomalies, and in DRS with deafness, vascular anomalies, and cognitive deficits, respectively. 17197532 2007
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3 		0.500 Biomarker disease MGD A Sall4 mutant mouse model useful for studying the role of Sall4 in early embryonic development and organogenesis. 17216607 2007
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 Biomarker disease CTD_human A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. 16402211 2006
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 GeneticVariation disease BEFREE Mutations in SALL4 have been identified in patients with Okihiro syndrome, which is characterized by radial ray anomalies associated with a Duane anomaly. 16411190 2006
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3 		0.500 Biomarker disease CTD_human A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. 16402211 2006
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3 		0.500 Biomarker disease MGD Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. 16380715 2006
CUI: C0751084
Disease: Duane Retraction Syndrome, Type 3
Duane Retraction Syndrome, Type 3 		0.500 Biomarker disease MGD The murine homolog of SALL4, a causative gene in Okihiro syndrome, is essential for embryonic stem cell proliferation, and cooperates with Sall1 in anorectal, heart, brain and kidney development. 16790473 2006
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		0.500 Biomarker disease LHGDN SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. 16086360 2005