KIAA1109, KIAA1109, 84162

N. diseases: 86; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME
0.600 Biomarker disease GENOMICS_ENGLAND Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants. 30906834 2019
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME
0.600 Biomarker disease GENOMICS_ENGLAND Endosomal trafficking defects in patient cells with KIAA1109 biallelic variants. 30906834 2019
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME
0.600 Biomarker disease GENOMICS_ENGLAND KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. 29290337 2018
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME
0.600 Biomarker disease GENOMICS_ENGLAND Molecular autopsy in maternal-fetal medicine. 28749478 2018
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME
0.600 GeneticVariation disease UNIPROT KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis. 29290337 2018
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME
0.600 GeneticVariation disease UNIPROT Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 25558065 2015
CUI: C4693347
Disease: ALKURAYA-KUCINSKAS SYNDROME
ALKURAYA-KUCINSKAS SYNDROME
0.600 CausalMutation disease CLINVAR