Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
0.620 GeneticVariation disease BEFREE We discuss the genetic abnormality that causes Liebenberg syndrome, the genomic rearrangement at the PITX1 locus on chromosome 5.The structural variations seem to result in an ectopic expression of paired-like homeodomain transcription factor 1 (PITX1) in the forelimb causing a partial arm-to-leg transformation in these patients. 23940102 2014
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
0.620 Biomarker disease GENOMICS_ENGLAND We therefore re-define the phenotype of Liebenberg syndrome as a transformation of the upper limbs to reflect lower limb characteristics and speculate that the area of deletion contains a regulatory sequence that suppresses the expression of PITX1 in the upper limb buds. 23587911 2013
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
0.620 AlteredExpression disease BEFREE We therefore re-define the phenotype of Liebenberg syndrome as a transformation of the upper limbs to reflect lower limb characteristics and speculate that the area of deletion contains a regulatory sequence that suppresses the expression of PITX1 in the upper limb buds. 23587911 2013
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
0.620 Biomarker disease GENOMICS_ENGLAND Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. 23022097 2012
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
0.620 GermlineCausalMutation disease ORPHANET Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. 23022097 2012
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
0.620 Biomarker disease CTD_human
Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly
0.620 Biomarker disease GENOMICS_ENGLAND