NKX2-5, NK2 homeobox 5, 1482

N. diseases: 165; N. variants: 55
Disease: Splenic Hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0685889
Disease: Splenic Hypoplasia
Splenic Hypoplasia 		0.310 GeneticVariation disease BEFREE By whole-exome sequencing of a multiplex kindred with ICA, we identify a heterozygous missense mutation (P236H) in NKX2-5 showing reduced transactivation in vitro. 22560297 2012
CUI: C0685889
Disease: Splenic Hypoplasia
Splenic Hypoplasia 		0.310 GermlineCausalMutation disease ORPHANET Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module. 22560297 2012