DisGeNET - a database of gene-disease associations

ATP1A3, ATPase Na+/K+ transporting subunit alpha 3, 478

N. diseases: 174; N. variants: 61

Disease: Clumsiness - motor delay ×

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:	C0520947
Disease:	Clumsiness - motor delay

Clumsiness - motor delay

0.110

GeneticVariation

disease

BEFREE

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

22924536

2012

CUI:	C0520947
Disease:	Clumsiness - motor delay

Clumsiness - motor delay

0.110

Biomarker

disease

HPO