Table 1.

Age-dependent disease	Protein	References
Alzheimer’s	Presinilin	Familial Alzheimer’s disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer’s disease type 3 gene25
	λ-secretase	Pathogenic APP mutations near the γ-secretase cleavage site differentially affect Aβ secretion and APP C-terminal fragment stability26
	APP	The significance of the Swedish APP670/671 mutation for the development of Alzheimer’s disease amyloidosis27
Amyloid angiopathy	APP	Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692)28
Parkinson’s	SNCA, PARK2, PINK1, PARK7, and LRRK2	Genetic etiology of Parkinson Disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 Genes: A Mutation Update29
Frontotemporal dementia	Tau -microtubule associated protein	Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism30
ALS	SOD1	Amyotrophic lateral sclerosis: a new missense mutation in the SOD1 gene31
Retinitis pigmentosa	Rhodopsin	Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa32; Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa33
Late-onset fundus flavimaculatus (FFM)	photoreceptor ATP binding transporter gene	Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies34
Emphysema	1 Alpha anti-trypsin	Retarded protein folding of deficient human alpha 1-antitrypsin D256V and L41P variants35