DisGeNET - a database of gene-disease associations

NAA10, N-alpha-acetyltransferase 10, NatA catalytic subunit, 8260

N. diseases: 199; N. variants: 15

Disease: Microcephaly ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.110

GeneticVariation

disease

BEFREE

A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly.

31174490

2019

CUI:	C0025958
Disease:	Microcephaly

Microcephaly

0.110

Biomarker

disease

HPO