Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome
0.020 Biomarker disease BEFREE Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome. 17431898 2007
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome
0.020 Biomarker disease BEFREE Since both LMX1B and TBX4 are involved in a common molecular pathway, it is likely that the causative gene of genitopatellar syndrome functions within the same developmental process. 16761293 2006