SOX3, SRY-box transcription factor 3, 6658

N. diseases: 151; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.130 Biomarker disease BEFREE SOX3 involvement should be considered in a male with short stature due to GH deficiency associated with intellectual disability. 25402377 2015
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.130 Biomarker disease BEFREE Our findings further suggest that a dosage effect of SOX3 may to be responsible for a speech disorder in addition to short stature secondary to hypopituitarism. 16097007 2005
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.130 Biomarker disease BEFREE Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, obesity, round face, brachydactyly, and subcutaneous ossification. 11450852 2001
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.130 Biomarker disease HPO