Prader-Willi-like syndrome
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
|
24076603 |
2013 |
Prader-Willi Syndrome
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Prader-Willi-like syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
|
24076603 |
2013 |
Prader-Willi-like syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
Global developmental delay
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Clinical phenotypes of MAGEL2 mutations and deletions.
|
24661356 |
2014 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice.
|
21248145 |
2011 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.
|
19066619 |
2009 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
|
25473036 |
2014 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Prader-Willi syndrome: consensus diagnostic criteria.
|
8424017 |
1993 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
|
26365340 |
2015 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice.
|
19172181 |
2009 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
|
24076603 |
2013 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.
|
17728320 |
2007 |
Dysmorphic features
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease.
|
11891783 |
2002 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.
|
17728320 |
2007 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
|
25473036 |
2014 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Clinical phenotypes of MAGEL2 mutations and deletions.
|
24661356 |
2014 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease.
|
11891783 |
2002 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
|
24076603 |
2013 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Prader-Willi syndrome: consensus diagnostic criteria.
|
8424017 |
1993 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.
|
26365340 |
2015 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice.
|
21248145 |
2011 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice.
|
19172181 |
2009 |
Multiple congenital anomalies
|
0.100 |
CausalMutation
|
group |
CLINVAR |
A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.
|
19066619 |
2009 |