|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorder.
|
25284784 |
2014 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
|
20120035 |
2010 |
|
| Entrez Id: |
3192 |
| Gene Symbol: |
HNRNPU |
HNRNPU
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
De novo mutations in epileptic encephalopathies.
|
23934111 |
2013 |
|
| Entrez Id: |
5290 |
| Gene Symbol: |
PIK3CA |
PIK3CA
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer.
|
26301495 |
2015 |
|
| Entrez Id: |
4647 |
| Gene Symbol: |
MYO7A |
MYO7A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.
|
20132242 |
2010 |
|
| Entrez Id: |
10060 |
| Gene Symbol: |
ABCC9 |
ABCC9
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
|
23307537 |
2013 |
|
| Entrez Id: |
1499 |
| Gene Symbol: |
CTNNB1 |
CTNNB1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
|
| Entrez Id: |
7399 |
| Gene Symbol: |
USH2A |
USH2A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
The USH2A c.2299delG mutation: dating its common origin in a Southern European population.
|
20145675 |
2010 |
|
| Entrez Id: |
4647 |
| Gene Symbol: |
MYO7A |
MYO7A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.
|
9171833 |
1997 |
|
| Entrez Id: |
2200 |
| Gene Symbol: |
FBN1 |
FBN1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.
|
3536967 |
1986 |
|
| Entrez Id: |
191 |
| Gene Symbol: |
AHCY |
AHCY
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.
|
22959829 |
2012 |
|
| Entrez Id: |
3020 |
| Gene Symbol: |
H3-3A |
H3-3A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Characterising and predicting haploinsufficiency in the human genome.
|
20976243 |
2010 |
|
| Entrez Id: |
1499 |
| Gene Symbol: |
CTNNB1 |
CTNNB1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
|
11719191 |
2001 |
|
| Entrez Id: |
894 |
| Gene Symbol: |
CCND2 |
CCND2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
|
24705253 |
2014 |
|
| Entrez Id: |
2778 |
| Gene Symbol: |
GNAS |
GNAS
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.
|
23281139 |
2013 |
|
| Entrez Id: |
2146 |
| Gene Symbol: |
EZH2 |
EZH2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
|
22190405 |
2011 |
|
| Entrez Id: |
7319 |
| Gene Symbol: |
UBE2A |
UBE2A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutations in the intellectual disability gene Ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy.
|
23685073 |
2013 |
|
| Entrez Id: |
1106 |
| Gene Symbol: |
CHD2 |
CHD2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
The Chd family of chromatin remodelers.
|
17350655 |
2007 |
|
| Entrez Id: |
3192 |
| Gene Symbol: |
HNRNPU |
HNRNPU
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
|
| Entrez Id: |
3756 |
| Gene Symbol: |
KCNH1 |
KCNH1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.
|
26818738 |
2016 |
|
| Entrez Id: |
3756 |
| Gene Symbol: |
KCNH1 |
KCNH1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.
|
25711872 |
2015 |
|
| Entrez Id: |
79738 |
| Gene Symbol: |
BBS10 |
BBS10
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
|
20805367 |
2010 |
|
| Entrez Id: |
26137 |
| Gene Symbol: |
ZBTB20 |
ZBTB20
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Zinc finger protein Zbtb20 is essential for postnatal survival and glucose homeostasis.
|
19273596 |
2009 |
|
| Entrez Id: |
1499 |
| Gene Symbol: |
CTNNB1 |
CTNNB1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction.
|
8227220 |
1993 |
|
| Entrez Id: |
91461 |
| Gene Symbol: |
PKDCC |
PKDCC
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
The hedgehog target Vlk genetically interacts with Gli3 to regulate chondrocyte differentiation during mouse long bone development.
|
23792766 |
2013 |