TBX3, T-box transcription factor 3, 6926

N. diseases: 179; N. variants: 12
Disease: Hypogonadism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.010 Biomarker disease BEFREE The results are consistent with the previous finding that UMS is caused by haploinsufficiency of TBX3, and imply that mild gonadotropin deficiency may be the primary cause for underdeveloped external genitalia in males with UMS. 12116211 2002