KIAA0319L, KIAA0319 like, 79932

N. diseases: 29; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2275247
rs2275247
Entrez Id: 79932
Gene Symbol: KIAA0319L
KIAA0319L
CUI: C0036421
Disease:
Systemic Scleroderma 		0.800 GeneticVariation GWASDB A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937 2013
dbSNP: rs2275247
rs2275247
Entrez Id: 79932
Gene Symbol: KIAA0319L
KIAA0319L
CUI: C0036421
Disease:
Systemic Scleroderma 		0.800 GeneticVariation GWASCAT A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937 2013
dbSNP: rs2275247
rs2275247
Entrez Id: 79932
Gene Symbol: KIAA0319L
KIAA0319L
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.700 GeneticVariation GWASCAT A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937 2013
dbSNP: rs28366021
rs28366021
Entrez Id: 23154;79932
Gene Symbol: NCDN;KIAA0319L
NCDN;KIAA0319L
CUI: C0920296
Disease:
Developmental reading disorder 		0.010 GeneticVariation BEFREE Compared with the lowest risk carriers of the combination of rs2074130 CC, rs4504469 CC, and rs2274305 GG genotype, individuals carrying the combined genotypes of rs2074130 CC, rs4504469 CT or TT, and rs28366021 GG had a significantly increased risk for DD (OR = 2.492, 95 % CI = 1.447-4.290, P = 0.001); individuals with the combination of rs2074130 CT or TT and rs28366021 GG genotype exhibited the highest risk for DD (OR = 2.770, 95 % CI = 2.265-6.276, P = 0.000). 26184631 2016
dbSNP: rs7523017
rs7523017
Entrez Id: 79932
Gene Symbol: KIAA0319L
KIAA0319L
CUI: C0920296
Disease:
Developmental reading disorder 		0.010 GeneticVariation BEFREE Previous research has shown that a single marker, rs7523017 (P = 0.042) has been associated with developmental dyslexia by a Canadian group. 20697954 2011
dbSNP: rs7523017
rs7523017
Entrez Id: 79932
Gene Symbol: KIAA0319L
KIAA0319L
CUI: C0871215
Disease:
Reading Disabilities 		0.010 GeneticVariation BEFREE Evidence of association was found for a single marker (rs7523017; P=0.042) and a haplotype (P=0.031), with RD defined as a categorical trait in a subset of the sample (n=156 families) with a proband that made our criteria for RD. 19085271 2008