Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1968294
rs1968294
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C0005938
Disease:
Bone Density
T 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018
dbSNP: rs137853086
rs137853086
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
A 0.700 CausalMutation CLINVAR A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive. 15687324 2005
dbSNP: rs137853086
rs137853086
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
A 0.700 CausalMutation CLINVAR Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. 15133511 2004
dbSNP: rs137853087
rs137853087
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs137853088
rs137853088
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs137853089
rs137853089
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs137853090
rs137853090
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs137853091
rs137853091
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs267606841
rs267606841
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
C 0.700 CausalMutation CLINVAR
dbSNP: rs375879489
rs375879489
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs745655924
rs745655924
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs760830864
rs760830864
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs761396172
rs761396172
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs766750282
rs766750282
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TG 0.700 CausalMutation CLINVAR
dbSNP: rs775341386
rs775341386
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs786205250
rs786205250
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs13427924
rs13427924
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE Two GALNT3 markers, rs13427924 and rs4621175, were significantly associated with CAD (odds ratio [OR] = 0.87, p = 1.01 × 10<sup>-3</sup> and OR = 0.75, p = 2.51 × 10<sup>-4</sup>, respectively), and the risk A allele of rs4621175 was associated with lower GALNT3 expression in both mRNA and protein level; also, A allele showed decreased reporter activity. 28453302 2017
dbSNP: rs4621175
rs4621175
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE This study identified GALNT3 as a novel gene that rendered patients susceptible to CAD, and the A allele of a disease-associated variant rs4621175 linked reduced CAD risk through decreased GALNT3 expression. 28453302 2017
dbSNP: rs137853090
rs137853090
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE From intriguing findings, T359K-GALNT3 was simulated with high contribution for disease susceptibility (tumor calcinosis) as compared to its partner variant T272K (Ichikawa et al.[2006] J. Clin.Endocrinol.Metab.91:4472-4475). 24038392 2014
dbSNP: rs137853091
rs137853091
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE From intriguing findings, T359K-GALNT3 was simulated with high contribution for disease susceptibility (tumor calcinosis) as compared to its partner variant T272K (Ichikawa et al.[2006] J. Clin.Endocrinol.Metab.91:4472-4475). 24038392 2014
dbSNP: rs267606841
rs267606841
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Similarly, the prediction of high damaging behavior, evolutionary conservation and structural destabilization for C574G were proposed as major contributing factors to regulate metabolic disorder underlying tumor calcinosis and hyperostosis-hyperphosphatemia syndrome. 24038392 2014
dbSNP: rs267606841
rs267606841
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C1853256
Disease:
Hyperostosis-hyperphosphatemia syndrome
0.010 GeneticVariation BEFREE Similarly, the prediction of high damaging behavior, evolutionary conservation and structural destabilization for C574G were proposed as major contributing factors to regulate metabolic disorder underlying tumor calcinosis and hyperostosis-hyperphosphatemia syndrome. 24038392 2014
dbSNP: rs267606841
rs267606841
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C1876187
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
0.010 GeneticVariation BEFREE Similarly, the prediction of high damaging behavior, evolutionary conservation and structural destabilization for C574G were proposed as major contributing factors to regulate metabolic disorder underlying tumor calcinosis and hyperostosis-hyperphosphatemia syndrome. 24038392 2014
dbSNP: rs267606841
rs267606841
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C0025517
Disease:
Metabolic Diseases
0.010 GeneticVariation BEFREE Similarly, the prediction of high damaging behavior, evolutionary conservation and structural destabilization for C574G were proposed as major contributing factors to regulate metabolic disorder underlying tumor calcinosis and hyperostosis-hyperphosphatemia syndrome. 24038392 2014
dbSNP: rs1159208891
rs1159208891
Entrez Id: 2591
Gene Symbol: GALNT3
GALNT3
CUI: C0085681
Disease:
Hyperphosphatemia (disorder)
0.010 GeneticVariation BEFREE The R438H substitution likely abrogates GALNT3 activity, in turn causing enhanced FGF23 degradation and subsequent hyperostosis/hyperphosphataemia. 18322299 2008