TBX4, T-box transcription factor 4, 9496

N. diseases: 127; N. variants: 12
Disease: Familial primary pulmonary hypertension ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.500 GermlineCausalMutation disease ORPHANET TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension. 23592887 2013
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.500 GermlineCausalMutation disease ORPHANET Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension. 23502781 2013
CUI: C0340543
Disease: Familial primary pulmonary hypertension
Familial primary pulmonary hypertension 		0.500 Biomarker disease GENOMICS_ENGLAND Towards a molecular classification of pulmonary arterial hypertension. 27694411 2016