Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
0.500 GeneticVariation disease LHGDN SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. 15342710 2004
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
0.500 Biomarker disease BEFREE SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development. 12395297 2002
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
0.500 GeneticVariation disease LHGDN Okihiro syndrome is caused by SALL4 mutations. 12393809 2002
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
0.500 GeneticVariation disease LHGDN SALL4 represents the first identified Duane syndrome gene and the second malformation syndrome resulting from mutations in SAL genes and likely plays a critical role in abducens motoneuron development. 12395297 2002
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome
0.500 Biomarker disease HPO