Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NOTCH2 have also recently been connected to Hajdu-Cheney syndrome, a dominant disorder causing focal bone destruction, osteoporosis, craniofacial morphology and renal cysts.
|
22306179 |
2012 |
Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Conditional ablation of the Notch2 receptor in the ocular lens.
|
22173065 |
2012 |
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in NOTCH2 cause Hajdu-Cheney syndrome, which is characterized by skeletal defects and fractures, and JAG1 polymorphisms, are associated with variations in bone mineral density.
|
22002679 |
2012 |
Hajdu-Cheney Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
|
21378989 |
2011 |
Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
|
21681853 |
2011 |
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These findings demonstrate that SFPKS and HCS are both conditions caused by NOTCH2 mutations.
|
21793104 |
2011 |
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
|
21378989 |
2011 |
Hajdu-Cheney Syndrome
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.
|
21378985 |
2011 |
Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.
|
21378985 |
2011 |
Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
CTD_human |
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
|
21378989 |
2011 |
Hajdu-Cheney Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.
|
21378985 |
2011 |
Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.
|
21378985 |
2011 |
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Hajdu-Cheney syndrome mutations are predicted to lead to the premature truncation of NOTCH2 with either disruption or loss of the C-terminal proline-glutamate-serine-threonine-rich proteolytic recognition sequence, the absence of which has previously been shown to increase Notch signaling.
|
21378985 |
2011 |
Hajdu-Cheney Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.
|
21681853 |
2011 |
Hajdu-Cheney Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
PEST sequences and regulation by proteolysis.
|
8755249 |
1996 |
Hajdu-Cheney Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Alagille Syndrome 2
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Alagille syndrome: pathogenesis, diagnosis and management.
|
21934706 |
2012 |
Alagille Syndrome 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Conditional ablation of the Notch2 receptor in the ocular lens.
|
22173065 |
2012 |
Alagille Syndrome 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Renal anomalies in Alagille syndrome: a disease-defining feature.
|
22105858 |
2012 |
Alagille Syndrome 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
NOTCH2 mutations in Alagille syndrome.
|
22209762 |
2012 |
Alagille Syndrome 2
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
|
16773578 |
2006 |
Alagille Syndrome 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.
|
16773578 |
2006 |
Alagille Syndrome 2
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Alagille Syndrome 2
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Alagille Syndrome 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|