Table 1 Genes of interest, selected from previous genome-wide studies.

From: Locus specific epigenetic modalities of random allelic expression imbalance

Gene

Name

Disease association

A2m

Alpha-2-macroglobulin

Alzheimer’s disease, alpha-2-macroglobulin deficiency

Acyp2

Acylphosphatase 2

Cancer

App

Amyloid beta precursor protein

Alzheimer’s disease (dominant)

Bag3

BCL2-binding athanogene 3

Myopathy, cardiomyopathy, neuropathy (dominant)

Cnrip1

Cannabinoid receptor-interacting protein 1

 

Eya1

Eyes absent homologue 1

Branchio-otic & branchio-oto-renal syndromes (dominant)

Eya2

Eyes absent homologue 2

 

Eya3

Eyes absent homologue 3

(biallelic control)

Eya4

Eyes absent homologue 4

Cardiomyopathy, deafness (dominant)

Grik2

Glutamate receptor GluR6

Mental retardation, epilepsy (recessive)

Kcnq2

Potassium channel Kv7.2

Epilepsy, myokymia (dominant)

Ptk2b

Protein-tyrosine kinase 2 Beta

Osteoporosis, Alzheimer’s disease

Snca

Alpha-synuclein

Parkinson’s disease (dominant)