AMMECR1, AMMECR nuclear protein 1, 9949

N. diseases: 64; N. variants: 4
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.700 GeneticVariation disease UNIPROT X-linked elliptocytosis with impaired growth is related to mutated AMMECR1. 28089922 2017
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.700 GeneticVariation disease UNIPROT AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.700 Biomarker disease GENOMICS_ENGLAND AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis. 27811305 2017
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.700 Biomarker disease CTD_human
CUI: C4310810
Disease: MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 		0.700 CausalMutation disease CLINVAR