rs118204456
F12;GRK6;SLC34A1
Hereditary Angioedema Type III
0.830
GeneticVariation
BEFREE
Consistent with this, mutant fXII (fXII-Thr309Lys ) from patients with hereditary angioedema type III (HAEIII ) is protected from CpaA inactivation.
30563903 2018
rs118204456
F12;GRK6;SLC34A1
Hereditary Angioedema Type III
0.830
GeneticVariation
BEFREE
Intravital laser-scanning microscopy revealed that, compared with control animals, both F12-/- mice reconstituted with recombinant mutant forms of FXII and humanized HAEIII mouse models with inducible liver-specific expression of Thr309Lys -mutated FXII exhibited increased contact-driven microvascular leakage.
26193639 2015
rs118204456
F12;GRK6;SLC34A1
Hereditary Angioedema Type III
0.830
GeneticVariation
BEFREE
Missense mutation Thr309Lys in the coagulation factor XII gene in a Spanish family with hereditary angioedema type III .
19178407 2009
rs118204456
F12;GRK6;SLC34A1
Hereditary Angioedema Type III
0.830
GeneticVariation
UNIPROT
rs118204456
F12;GRK6;SLC34A1
Hereditary Angioedema Type III
C
0.830
CausalMutation
CLINVAR
rs118204456
F12;GRK6;SLC34A1
Hereditary Angioedema Type III
T
0.830
CausalMutation
CLINVAR
rs1801020
F12;GRK6;SLC34A1
Activated Partial Thromboplastin Time measurement
0.800
GeneticVariation
GWASCAT
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
29403010 2018
rs6420094
×
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
Glomerular Filtration Rate
A
0.800
GeneticVariation
GWASCAT
Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.
26831199 2016
rs769409705
×
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
Hypercalcemia, infantile, 2
0.800
GeneticVariation
UNIPROT
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
26047794 2016
rs876661338
×
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
Hypercalcemia, infantile, 2
0.800
GeneticVariation
UNIPROT
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
26047794 2016
rs1801020
F12;GRK6;SLC34A1
Activated Partial Thromboplastin Time measurement
0.800
GeneticVariation
GWASDB
A gene-centric analysis of activated partial thromboplastin time and activated protein C resistance using the HumanCVD focused genotyping array.
23188048 2013
rs6420094
×
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
Glomerular Filtration Rate
0.800
GeneticVariation
GWASDB
Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate.
23535967 2013
rs121918610
×
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
0.800
GeneticVariation
UNIPROT
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.
12324554 2002
rs121918611
×
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
0.800
GeneticVariation
UNIPROT
Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter.
12324554 2002
rs121918610
×
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
TT
0.800
CausalMutation
CLINVAR
rs121918611
×
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
A
0.800
CausalMutation
CLINVAR
rs769409705
×
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
Hypercalcemia, infantile, 2
C
0.800
CausalMutation
CLINVAR
rs769409705
×
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
Hypercalcemia, infantile, 2
T
0.800
CausalMutation
CLINVAR
rs876661338
×
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
Hypercalcemia, infantile, 2
G
0.800
CausalMutation
CLINVAR
rs118204456
F12;GRK6;SLC34A1
Angioedemas, Hereditary
0.750
GeneticVariation
BEFREE
We expressed wild type FXII (FXII-WT), FXII-W268R and FXII-T309R (which causes HAE ), as well as other FXII variants in HEK293 freestyle cells.
31771982 2020
rs118204456
F12;GRK6;SLC34A1
Angioedemas, Hereditary
0.750
GeneticVariation
BEFREE
The c.983C>A (p.Thr328Lys ) mutation was identified in 16 subjects, from 4 of the 5 families studied, including 8 patients with symptoms of HAE with normal C1-INH (87.5% women) and 8 subjects asymptomatic for HAE (25% women).
25790805 2015
rs118204456
F12;GRK6;SLC34A1
Angioedemas, Hereditary
T
0.750
CausalMutation
CLINVAR
The c.983C>A (p.Thr328Lys ) mutation was identified in 16 subjects, from 4 of the 5 families studied, including 8 patients with symptoms of HAE with normal C1-INH (87.5% women) and 8 subjects asymptomatic for HAE (25% women).
25790805 2015
rs118204456
F12;GRK6;SLC34A1
Angioedemas, Hereditary
T
0.750
CausalMutation
CLINVAR
Characterization of patients with angioedema without wheals: the importance of F12 gene screening.
25744496 2015
rs118204456
F12;GRK6;SLC34A1
Angioedemas, Hereditary
0.750
GeneticVariation
BEFREE
Hereditary angioedema (HAE ) with normal C1 inhibitor (C1Inh) associated with the c.983C>A and c.983C>G mutations of the F12 gene (FXII-HAE) is a rare condition, and presents with highly variable clinical expression.25134986 2014
rs118204456
F12;GRK6;SLC34A1
Angioedemas, Hereditary
T
0.750
CausalMutation
CLINVAR
Obstetrical Complications and Outcome in Two Families with Hereditary Angioedema due to Mutation in the F12 Gene.
20490261 2010