ZFHX4, zinc finger homeobox 4, 79776

N. diseases: 19; N. variants: 5
Disease: Congenital ptosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266573
Disease: Congenital ptosis
Congenital ptosis 		0.410 GeneticVariation disease BEFREE In addition, in a sporadic case with a balanced chromosomal translocation t(1;8) (p34.3;q21.12), the ZFHX4 (zinc finger homeodomain 4) gene was found to be disrupted at the 8q21.12 breakpoint, but there was no gene at the 1p34.3 breakpoint, suggesting the existence of the third PTOS locus (PTOS1) at 8q21.12. 17987257 2008
CUI: C0266573
Disease: Congenital ptosis
Congenital ptosis 		0.410 GeneticVariation disease ORPHANET Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family. 17987257 2008
CUI: C0266573
Disease: Congenital ptosis
Congenital ptosis 		0.410 GeneticVariation disease ORPHANET A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation. 11935336 2002
CUI: C0266573
Disease: Congenital ptosis
Congenital ptosis 		0.410 Biomarker disease HPO