DisGeNET - a database of gene-disease associations

KIAA1109, KIAA1109, 84162

N. diseases: 86; N. variants: 30

Disease: Arthrogryposis ×

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:	C0003886
Disease:	Arthrogryposis

Arthrogryposis

0.110

GeneticVariation

disease

BEFREE

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

2018

CUI:	C0003886
Disease:	Arthrogryposis

Arthrogryposis

0.110

Biomarker

disease

HPO