|
| Entrez Id: |
57688 |
| Gene Symbol: |
ZSWIM6 |
ZSWIM6
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
|
29198722 |
2017 |
|
| Entrez Id: |
57688 |
| Gene Symbol: |
ZSWIM6 |
ZSWIM6
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
|
26706854 |
2016 |
|
| Entrez Id: |
57688 |
| Gene Symbol: |
ZSWIM6 |
ZSWIM6
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
|
25105228 |
2014 |
|
| Entrez Id: |
63925 |
| Gene Symbol: |
ZNF335 |
ZNF335
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation.
|
19131338 |
2009 |
|
| Entrez Id: |
63925 |
| Gene Symbol: |
ZNF335 |
ZNF335
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report.
|
27540107 |
2016 |
|
| Entrez Id: |
63925 |
| Gene Symbol: |
ZNF335 |
ZNF335
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.
|
23178126 |
2012 |
|
| Entrez Id: |
63925 |
| Gene Symbol: |
ZNF335 |
ZNF335
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
|
22495306 |
2012 |
|
| Entrez Id: |
63925 |
| Gene Symbol: |
ZNF335 |
ZNF335
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
|
| Entrez Id: |
10771 |
| Gene Symbol: |
ZMYND11 |
ZMYND11
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
ZMYND11 links histone H3.3K36me3 to transcription elongation and tumour suppression.
|
24590075 |
2014 |
|
| Entrez Id: |
10771 |
| Gene Symbol: |
ZMYND11 |
ZMYND11
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.
|
25281490 |
2015 |
|
| Entrez Id: |
10771 |
| Gene Symbol: |
ZMYND11 |
ZMYND11
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
New insights into BS69 functions.
|
16565076 |
2006 |
|
| Entrez Id: |
10771 |
| Gene Symbol: |
ZMYND11 |
ZMYND11
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
|
25217958 |
2014 |
|
| Entrez Id: |
10771 |
| Gene Symbol: |
ZMYND11 |
ZMYND11
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
|
| Entrez Id: |
10771 |
| Gene Symbol: |
ZMYND11 |
ZMYND11
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Structural and functional analysis of the DEAF-1 and BS69 MYND domains.
|
23372760 |
2013 |
|
| Entrez Id: |
10771 |
| Gene Symbol: |
ZMYND11 |
ZMYND11
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
ZMYND11: an H3.3-specific reader of H3K36me3.
|
24963723 |
2014 |
|
| Entrez Id: |
10771 |
| Gene Symbol: |
ZMYND11 |
ZMYND11
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.
|
22847950 |
2012 |
|
| Entrez Id: |
9839 |
| Gene Symbol: |
ZEB2 |
ZEB2
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
|
27831545 |
2017 |
|
| Entrez Id: |
9839 |
| Gene Symbol: |
ZEB2 |
ZEB2
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
|
26721324 |
2016 |
|
| Entrez Id: |
9839 |
| Gene Symbol: |
ZEB2 |
ZEB2
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.
|
19842203 |
2009 |
|
| Entrez Id: |
9839 |
| Gene Symbol: |
ZEB2 |
ZEB2
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Mowat-Wilson syndrome.
|
17958891 |
2007 |
|
| Entrez Id: |
9839 |
| Gene Symbol: |
ZEB2 |
ZEB2
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.
|
26809768 |
2016 |
|
| Entrez Id: |
9839 |
| Gene Symbol: |
ZEB2 |
ZEB2
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Mandibuloacral dysplasia type A in childhood.
|
19764019 |
2009 |
|
| Entrez Id: |
9839 |
| Gene Symbol: |
ZEB2 |
ZEB2
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Clinical utility gene card for: Mowat-Wilson syndrome.
|
21343952 |
2011 |
|
| Entrez Id: |
9839 |
| Gene Symbol: |
ZEB2 |
ZEB2
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Clinical and mutational spectrum of Mowat-Wilson syndrome.
|
16053902 |
2005 |
|
| Entrez Id: |
51114 |
| Gene Symbol: |
ZDHHC9 |
ZDHHC9
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |