|
| Entrez Id: |
50 |
| Gene Symbol: |
ACO2 |
ACO2
|
Downward slant of palpebral fissure
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
23394 |
| Gene Symbol: |
ADNP |
ADNP
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
|
22426309 |
2012 |
|
| Entrez Id: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
|
| Entrez Id: |
196528 |
| Gene Symbol: |
ARID2 |
ARID2
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
55252 |
| Gene Symbol: |
ASXL2 |
ASXL2
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
26053 |
| Gene Symbol: |
AUTS2 |
AUTS2
|
Downward slant of palpebral fissure
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
673 |
| Gene Symbol: |
BRAF |
BRAF
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.
|
16439621 |
2006 |
|
| Entrez Id: |
673 |
| Gene Symbol: |
BRAF |
BRAF
|
Downward slant of palpebral fissure
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
673 |
| Gene Symbol: |
BRAF |
BRAF
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
|
16474404 |
2006 |
|
| Entrez Id: |
8506 |
| Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
Downward slant of palpebral fissure
|
0.100 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
|
| Entrez Id: |
1277 |
| Gene Symbol: |
COL1A1 |
COL1A1
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
1287 |
| Gene Symbol: |
COL4A5 |
COL4A5
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
1654 |
| Gene Symbol: |
DDX3X |
DDX3X
|
Downward slant of palpebral fissure
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
1654 |
| Gene Symbol: |
DDX3X |
DDX3X
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
388650 |
| Gene Symbol: |
DIPK1A |
DIPK1A
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
9427 |
| Gene Symbol: |
ECEL1 |
ECEL1
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
2200 |
| Gene Symbol: |
FBN1 |
FBN1
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
Downward slant of palpebral fissure
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
51053 |
| Gene Symbol: |
GMNN |
GMNN
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
|
26637980 |
2015 |
|
| Entrez Id: |
3020 |
| Gene Symbol: |
H3-3A |
H3-3A
|
Downward slant of palpebral fissure
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
10075 |
| Gene Symbol: |
HUWE1 |
HUWE1
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|
|
| Entrez Id: |
154881 |
| Gene Symbol: |
KCTD7 |
KCTD7
|
Downward slant of palpebral fissure
|
0.100 |
GeneticVariation |
CLINVAR |
|
|
|
|
| Entrez Id: |
374654 |
| Gene Symbol: |
KIF7 |
KIF7
|
Downward slant of palpebral fissure
|
0.100 |
CausalMutation |
CLINVAR |
|
|
|