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Table 1 H3K4 methylation machinery implicated in cognitive disease

From: Histone H3 lysine K4 methylation and its role in learning and memory

Enzyme

Associated cognitive disease

OMIM #

Mutation type

References

KMT2A

Wiedemann–Steiner syndrome

605130

Predicted LOF

[12, 97,98,99]

KMT2B

Dystonia 28

617284

Predicted LOF

[13, 100]

KMT2C

Kleefstra syndrome 2

617768

Predicted LOF

[14, 98, 101,102,103]

KMT2D

Kabuki syndrome 1

147920

Predicted LOF

[15, 104]

KMT2E

ASD

n/a

Predicted LOF

[16]

KMT2F

Schizophrenia

n/a

Predicted LOF

[19, 105]

KDM1A

CPRF

616728

Unknown

[17, 106]

KDM5A

ID

n/a

Predicted LOF

[107]

KDM5B

ASD, ID

n/a

Unknown

[97, 102, 103, 108]

KDM5C

Claes–Jensen syndrome, ASD

300534

Predicted LOF

[18, 109]

  1. Associated disease(s) are listed in the second column. Online Mendelian Inheritance in Man (OMIM) # reported for each disease in the third column. Mutation type, if predicted or unknown, reported in the fourth column (LOF loss of function). References contributing significantly to an understanding of disease etiology or clinical manifestations are listed in the fifth column