AMMECR1, AMMECR nuclear protein 1, 9949

N. diseases: 64; N. variants: 4
Disease: Nephrocalcinosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.110 GeneticVariation disease BEFREE Recently, mutations in AMMECR1 were reported in two maternal half-brothers, presenting with nephrocalcinosis, midface hypoplasia and, in one of the siblings, deafness and elliptocytosis. 28089922 2017
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		0.110 Biomarker disease HPO