Gene: KCNJ13 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13 		0.650 GeneticVariation disease BEFREE Pathogenic variants of the KCNJ13 gene are known to cause Leber congenital amaurosis (LCA16), an inherited pediatric blindness. 30686507 2019
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13 		0.650 GeneticVariation disease BEFREE Mutations in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD). 30846767 2019
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13 		0.650 GeneticVariation disease BEFREE Mutations in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD). 31647904 2019
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13 		0.650 GermlineCausalMutation disease ORPHANET Review and update on the molecular basis of Leber congenital amaurosis. 25685757 2015
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13 		0.650 GeneticVariation disease BEFREE Here, we utilized the CRISPR-Cas9 system to generate Kcnj13 mutant mice by zygote injection to verify the pathogenic role of human KCNJ13, mutations of which are thought to cause Leber congenital amaurosis (LCA), an early-onset form of blindness. 25666713 2015
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13 		0.650 GeneticVariation disease BEFREE A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). 25921210 2015
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13 		0.650 GermlineCausalMutation disease ORPHANET Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. 21763485 2011
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13 		0.650 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 3769
Gene Symbol: KCNJ13
KCNJ13 		0.650 CausalMutation disease CLINVAR