AMMECR1, AMMECR nuclear protein 1, 9949

N. diseases: 64; N. variants: 4
Disease: Short stature ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker phenotype GENOMICS_ENGLAND AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C0349588
Disease: Short stature
Short stature 		0.400 CausalMutation phenotype CLINVAR
CUI: C0349588
Disease: Short stature
Short stature 		0.400 Biomarker phenotype HPO