|
| Entrez Id: |
7355 |
| Gene Symbol: |
SLC35A2 |
SLC35A2
|
Hyperopia
|
0.100 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
|
| Entrez Id: |
5290 |
| Gene Symbol: |
PIK3CA |
PIK3CA
|
Orbital separation excessive
|
0.100 |
CausalMutation |
CLINVAR |
Novel features of PIK3CA-Related Overgrowth Spectrum: Lesson from an aborted fetus presenting a de novo constitutional PIK3CA mutation.
|
31568861 |
2019 |
|
| Entrez Id: |
7355 |
| Gene Symbol: |
SLC35A2 |
SLC35A2
|
Hypoglycemia
|
0.100 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
|
| Entrez Id: |
9820 |
| Gene Symbol: |
CUL7 |
CUL7
|
Lordosis
|
0.100 |
GeneticVariation |
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |
|
| Entrez Id: |
23363 |
| Gene Symbol: |
OBSL1 |
OBSL1
|
Lordosis
|
0.100 |
GeneticVariation |
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |
|
| Entrez Id: |
89953 |
| Gene Symbol: |
KLC4 |
KLC4
|
Lordosis
|
0.100 |
GeneticVariation |
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |
|
| Entrez Id: |
6659 |
| Gene Symbol: |
SOX4 |
SOX4
|
Macrostomia
|
0.100 |
GeneticVariation |
CLINVAR |
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
|
30661772 |
2019 |
|
| Entrez Id: |
84294 |
| Gene Symbol: |
UTP23 |
UTP23
|
Micrognathism
|
0.100 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
|
| Entrez Id: |
5885 |
| Gene Symbol: |
RAD21 |
RAD21
|
Micrognathism
|
0.100 |
GeneticVariation |
CLINVAR |
A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature.
|
30125677 |
2019 |
|
| Entrez Id: |
9024 |
| Gene Symbol: |
BRSK2 |
BRSK2
|
Moderate intellectual disability
|
0.100 |
GeneticVariation |
CLINVAR |
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
|
30879638 |
2019 |
|
| Entrez Id: |
4851 |
| Gene Symbol: |
NOTCH1 |
NOTCH1
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.
|
25914885 |
2019 |
|
| Entrez Id: |
2775 |
| Gene Symbol: |
GNAO1 |
GNAO1
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.
|
28503590 |
2019 |
|
| Entrez Id: |
7355 |
| Gene Symbol: |
SLC35A2 |
SLC35A2
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
|
| Entrez Id: |
23164 |
| Gene Symbol: |
MPRIP |
MPRIP
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.
|
26581862 |
2019 |
|
| Entrez Id: |
11200 |
| Gene Symbol: |
CHEK2 |
CHEK2
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Characterization of the c.793-1G > A splicing variant in CHEK2 gene as pathogenic: a case report.
|
31349801 |
2019 |
|
| Entrez Id: |
201163 |
| Gene Symbol: |
FLCN |
FLCN
|
Neoplastic Syndromes, Hereditary
|
0.100 |
CausalMutation |
CLINVAR |
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome.
|
26581862 |
2019 |
|
| Entrez Id: |
49855 |
| Gene Symbol: |
SCAPER |
SCAPER
|
Obesity
|
0.100 |
CausalMutation |
CLINVAR |
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
|
30723319 |
2019 |
|
| Entrez Id: |
7355 |
| Gene Symbol: |
SLC35A2 |
SLC35A2
|
Osteopenia
|
0.100 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
|
| Entrez Id: |
7355 |
| Gene Symbol: |
SLC35A2 |
SLC35A2
|
Pyloric Stenosis
|
0.100 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
|
| Entrez Id: |
254359 |
| Gene Symbol: |
ZDHHC24 |
ZDHHC24
|
Retinitis Pigmentosa
|
0.100 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
23469 |
| Gene Symbol: |
PHF3 |
PHF3
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
152519 |
| Gene Symbol: |
NIPAL1 |
NIPAL1
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
CDH23-AS1
|
Retinitis Pigmentosa
|
0.100 |
GeneticVariation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
23469 |
| Gene Symbol: |
PHF3 |
PHF3
|
Retinitis Pigmentosa
|
0.100 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
| Entrez Id: |
54714 |
| Gene Symbol: |
CNGB3 |
CNGB3
|
Retinitis Pigmentosa
|
0.100 |
CausalMutation |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |