DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Generalized hypotonia ×

Gene: KIF1A ×

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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

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

CausalMutation

CLINVAR

De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

26486474

2016

Entrez Id:	547
Gene Symbol:	KIF1A

KIF1A

CUI:	C1858120
Disease:	Generalized hypotonia

Generalized hypotonia

0.100

Biomarker

HPO