ENAM, enamelin, 10117

N. diseases: 30; N. variants: 11
Disease: Amelogenesis Imperfecta, Type IB ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0399368
Disease: Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type IB 		0.910 Biomarker disease GENOMICS_ENGLAND Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress. 28334996 2017
CUI: C0399368
Disease: Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type IB 		0.910 GeneticVariation disease CLINVAR Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress. 28334996 2017
CUI: C0399368
Disease: Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type IB 		0.910 GeneticVariation disease UNIPROT A secretory kinase complex regulates extracellular protein phosphorylation. 25789606 2015
CUI: C0399368
Disease: Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type IB 		0.910 Biomarker disease MGD Enamelin is critical for ameloblast integrity and enamel ultrastructure formation. 24603688 2014
CUI: C0399368
Disease: Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type IB 		0.910 GeneticVariation disease UNIPROT Altered enamelin phosphorylation site causes amelogenesis imperfecta. 20439930 2010
CUI: C0399368
Disease: Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type IB 		0.910 Biomarker disease MGD Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI). 15649948 2005
CUI: C0399368
Disease: Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type IB 		0.910 GeneticVariation disease BEFREE The enamelin gene (ENAM ), has been mapped to chromosome 4q21, to the same region as AIH2, and was recently shown to be mutated in patients with smooth and thin hypoplastic autosomal dominant AI (ADAI). 11978766 2002
CUI: C0399368
Disease: Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type IB 		0.910 GeneticVariation disease UNIPROT The enamelin gene (ENAM ), has been mapped to chromosome 4q21, to the same region as AIH2, and was recently shown to be mutated in patients with smooth and thin hypoplastic autosomal dominant AI (ADAI). 11978766 2002
CUI: C0399368
Disease: Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type IB 		0.910 GeneticVariation disease UNIPROT Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. 11487571 2001
CUI: C0399368
Disease: Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type IB 		0.910 Biomarker disease CTD_human
CUI: C0399368
Disease: Amelogenesis Imperfecta, Type IB
Amelogenesis Imperfecta, Type IB 		0.910 CausalMutation disease CLINVAR