rs397515453
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase.
|
28632845 |
2017 |
rs397515453
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
PI3-kinase mutation linked to insulin and growth factor resistance in vivo.
|
26974159 |
2016 |
rs397515453
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Insulin resistance uncoupled from dyslipidemia due to C-terminal PIK3R1 mutations.
|
27766312 |
2016 |
rs587777709
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
De novo PIK3R1 gain-of-function with recurrent sinopulmonary infections, long-lasting chronic CMV-lymphadenitis and microcephaly.
|
26529633 |
2016 |
rs1561299903
|
|
CT |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
|
24886349 |
2014 |
rs397515453
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
PIK3R1 mutations in SHORT syndrome.
|
23980586 |
2014 |
rs397515453
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Clinical exome sequencing for genetic identification of rare Mendelian disorders.
|
25326637 |
2014 |
rs397515453
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
|
24886349 |
2014 |
rs587777709
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A human immunodeficiency caused by mutations in the PIK3R1 gene.
|
25133428 |
2014 |
rs587777709
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A human immunodeficiency caused by mutations in the PIK3R1 gene.
|
25133428 |
2014 |
rs587777709
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.
|
25488983 |
2014 |
rs1561299903
|
|
CT |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PIK3R1 cause SHORT syndrome.
|
23810382 |
2013 |
rs1561299903
|
|
CT |
0.700 |
CausalMutation |
CLINVAR |
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
|
23810378 |
2013 |
rs397515453
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
|
23810378 |
2013 |
rs397515453
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PIK3R1 cause SHORT syndrome.
|
23810382 |
2013 |
rs397515453
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
SHORT syndrome with partial lipodystrophy due to impaired phosphatidylinositol 3 kinase signaling.
|
23810379 |
2013 |
rs587777709
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.
|
22351933 |
2012 |
rs1057519838
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs397509384
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|