SLC12A4, solute carrier family 12 member 4, 6560

N. diseases: 23; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908051
rs121908051
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0342895
Disease:
Fish-Eye Disease 		A 0.800 CausalMutation CLINVAR
dbSNP: rs748427834
rs748427834
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0342895
Disease:
Fish-Eye Disease 		0.700 GeneticVariation UNIPROT
dbSNP: rs971887742
rs971887742
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele. 2370048 1990
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene. 1859405 1991
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency. 1681161 1991
dbSNP: rs121908051
rs121908051
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0342895
Disease:
Fish-Eye Disease 		0.800 GeneticVariation UNIPROT The genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency families. 1516702 1992
dbSNP: rs121908051
rs121908051
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0342895
Disease:
Fish-Eye Disease 		0.800 GeneticVariation UNIPROT Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met). 1737840 1992
dbSNP: rs121908051
rs121908051
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0342895
Disease:
Fish-Eye Disease 		0.800 GeneticVariation UNIPROT An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease. 1571050 1992
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease. 8432868 1993
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT Lecithin:cholesterol acyltransferase deficiency: identification of a causative gene mutation and a co-inherited protein polymorphism. 8318557 1993
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT Deficiency of lecithin:cholesterol acyltransferase due to compound heterozygosity of two novel mutations (Gly33Arg and 30 bp ins) in the LCAT gene. 7711728 1995
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT A single G to A nucleotide transition in exon IV of the lecithin: cholesterol acyltransferase (LCAT) gene results in an Arg140 to His substitution and causes LCAT-deficiency. 7607641 1995
dbSNP: rs121908051
rs121908051
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0342895
Disease:
Fish-Eye Disease 		0.800 GeneticVariation UNIPROT Two novel molecular defects in the LCAT gene are associated with fish eye disease. 8620346 1996
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT Complete deficiency of plasma lecithin-cholesterol acyltransferase (LCAT) activity due to a novel homozygous mutation (Gly-30-Ser) in the LCAT gene. 8807342 1996
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency. 9007616 1996
dbSNP: rs121908051
rs121908051
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0342895
Disease:
Fish-Eye Disease 		0.800 GeneticVariation UNIPROT Molecular basis of fish-eye disease in a patient from Spain. Characterization of a novel mutation in the LCAT gene and lipid analysis of the cornea. 9261271 1997
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT Transmission of two novel mutations in a pedigree with familial lecithin:cholesterol acyltransferase deficiency: structure-function relationships and studies in a compound heterozygous proband. 9741700 1998
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT Hypocomplementemic type II membranoproliferative glomerulonephritis in a male patient with familial lecithin-cholesterol acyltransferase deficiency due to two different allelic mutations. 11423760 2001
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT A novel LCAT mutation (Phe382-->Val) in a kindred with familial LCAT deficiency and defective apolipoprotein B-100. 12957688 2003
dbSNP: rs560140762
rs560140762
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0342895
Disease:
Fish-Eye Disease 		0.010 GeneticVariation BEFREE T13M mutation of LCAT gene causes FED. 15115696 2004
dbSNP: rs121908051
rs121908051
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0342895
Disease:
Fish-Eye Disease 		0.800 GeneticVariation UNIPROT The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. 15994445 2005
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families. 15994445 2005
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease. 16216249 2006
dbSNP: rs1461145750
rs1461145750
Entrez Id: 3931;6560
Gene Symbol: LCAT;SLC12A4
LCAT;SLC12A4
CUI: C0023195
Disease:
Lecithin Acyltransferase Deficiency 		0.700 GeneticVariation UNIPROT Familial lecithin-cholesterol acyltransferase deficiency: biochemical characteristics and molecular analysis of a new LCAT mutation in a Polish family. 16051254 2006