SF3B4, splicing factor 3b subunit 4, 10262

N. diseases: 110; N. variants: 22
Disease: Congenital small ears ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease GENOMICS_ENGLAND Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. 24003905 2014
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease HPO