CALD1, caldesmon 1, 800

N. diseases: 94; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13247106
rs13247106
Entrez Id: 800
Gene Symbol: CALD1
CALD1
CUI: C4317009
Disease:
Diverticular Diseases 		G 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease. 30177863 2018
dbSNP: rs1869260
rs1869260
Entrez Id: 800
Gene Symbol: CALD1
CALD1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs3800748
rs3800748
Entrez Id: 800
Gene Symbol: CALD1
CALD1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs4732064
rs4732064
Entrez Id: 800
Gene Symbol: CALD1
CALD1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs4732064
rs4732064
Entrez Id: 800
Gene Symbol: CALD1
CALD1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		T 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs3807337
rs3807337
Entrez Id: 800
Gene Symbol: CALD1
CALD1
CUI: C0011881
Disease:
Diabetic Nephropathy 		0.010 GeneticVariation BEFREE The aim of the study was to investigate the influence of rs3807337 polymorphism of the caldesmon 1 (CALD1) gene located on the long arm of chromosome 7 encoding for protein that is connected with physiological kidney function on development of diabetic nephropathy. 28255976 2017
dbSNP: rs756573441
rs756573441
Entrez Id: 800
Gene Symbol: CALD1
CALD1
CUI: C0020179
Disease:
Huntington Disease 		0.010 GeneticVariation BEFREE In the present investigation, we studied two single nucleotide polymorphisms (SNPs), namely, R72P in TP53 gene coding for transcription factor p53, which interacts with Htt protein and R196K in human caspase activated DNase (hCAD) gene involved in apoptosis to investigate their role as genetic modifiers of the AO of HD. 15644269 2005