|
rs28939080
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.
|
11326338 |
2001 |
|
rs28939080
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
|
11326272 |
2001 |
|
rs28939080
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121908405
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121908406
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs267606656
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs267606657
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs267606658
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs77375493
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To determine the prevalence of JAK2 V617F mutation and its clinical correlation in patients with chronic myeloproliferative disorders (CMD): polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF).
|
19941738 |
2009 |
|
rs77375493
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In patients with CMD, the multivariate generalized linear regression model showed that the JAK2 (V617F) mutational burden (P = 0.01), serum lactate dehydrogenase level (P = 0.003), and anaemia (P < 0.001) independently correlated with MVD.
|
18028479 |
2008 |
|
rs77375493
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The recently discovered mutations in patients with CMD (V617F and exon 12 of JAK2 gene, MPL gene), and those identified in hereditary erythrocytosis and in hereditary thrombocytosis have improved our ability to discriminate these conditions.
|
18484677 |
2008 |
|
rs77375493
|
|
|
0.040 |
GeneticVariation |
BEFREE |
A substantial proportion of patients with splanchnic venous thrombosis and a small, but significant, number of patients with CVT can be recognized as carriers of the JAK2 V617F mutation in the absence of overt signs of CMD.
|
17263783 |
2007 |
|
rs104894681
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Using AAV9-mediated overexpression of mutant human FKRP bearing the P448L mutation (mhFKRP-P448L) associated with severe congenital muscular dystrophy (CMD), we demonstrate the restoration of functional glycosylation of α-DG and reduction in markers of disease progression.
|
29858056 |
2018 |
|
rs764670582
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we performed whole-exome sequencing for one subject with AR CMD and identified a novel missense mutation (c.716G>A, p.Arg239Gln) in the C-terminus of the gap junction protein alpha-1 (GJA1) coding for connexin 43 (Cx43).
|
23951358 |
2013 |