ZSWIM6, zinc finger SWIM-type containing 6, 57688

N. diseases: 95; N. variants: 15
Disease: Acromelic frontonasal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796182
Disease: Acromelic frontonasal dysplasia
Acromelic frontonasal dysplasia 		0.300 GermlineCausalMutation disease ORPHANET Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. 25105228 2014