Disease: Tibial aplasia and ectrodactyly syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551989
Disease: Tibial aplasia and ectrodactyly syndrome
Tibial aplasia and ectrodactyly syndrome 		0.050 GeneticVariation disease BEFREE Gene dosage effect of the extra copies of BHLHA9 gene at this locus has been implicated in the pathogenesis of SHFLD. 31200655 2019
CUI: C4551989
Disease: Tibial aplasia and ectrodactyly syndrome
Tibial aplasia and ectrodactyly syndrome 		0.050 GeneticVariation disease BEFREE Additionally, conditions like Split-hand/foot malformation with long-bone deficiency secondary to duplication of BHLHA9 gene have been ruled out by the array-CGH and MLPA analysis. 24874887 2014
CUI: C4551989
Disease: Tibial aplasia and ectrodactyly syndrome
Tibial aplasia and ectrodactyly syndrome 		0.050 Biomarker disease BEFREE Split hand/foot malformation with long-bone deficiency and BHLHA9 duplication: report of 13 new families. 23790188 2014
CUI: C4551989
Disease: Tibial aplasia and ectrodactyly syndrome
Tibial aplasia and ectrodactyly syndrome 		0.050 Biomarker disease BEFREE Split-hand/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis. 23202277 2013
CUI: C4551989
Disease: Tibial aplasia and ectrodactyly syndrome
Tibial aplasia and ectrodactyly syndrome 		0.050 Biomarker disease BEFREE The duplications in patients with clefts appear to disrupt ABR, while the SHFLD phenotype was associated with duplication of BHLHA9 as noted in two recent reports. 23813913 2013