|
| Entrez Id: |
6329 |
| Gene Symbol: |
SCN4A |
SCN4A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
|
15596759 |
2004 |
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
4534 |
| Gene Symbol: |
MTM1 |
MTM1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
6872 |
| Gene Symbol: |
TAF1 |
TAF1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
154881 |
| Gene Symbol: |
KCTD7 |
KCTD7
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
2263 |
| Gene Symbol: |
FGFR2 |
FGFR2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
8701 |
| Gene Symbol: |
DNAH11 |
DNAH11
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
171023 |
| Gene Symbol: |
ASXL1 |
ASXL1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
9772 |
| Gene Symbol: |
TMEM94 |
TMEM94
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
7355 |
| Gene Symbol: |
SLC35A2 |
SLC35A2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
|
| Entrez Id: |
746 |
| Gene Symbol: |
TMEM258 |
TMEM258
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
51633 |
| Gene Symbol: |
OTUD6B |
OTUD6B
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
8701 |
| Gene Symbol: |
DNAH11 |
DNAH11
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
745 |
| Gene Symbol: |
MYRF |
MYRF
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
5885 |
| Gene Symbol: |
RAD21 |
RAD21
|
0.100 |
GeneticVariation
|
disease |
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: |
6598 |
| Gene Symbol: |
SMARCB1 |
SMARCB1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
84294 |
| Gene Symbol: |
UTP23 |
UTP23
|
0.100 |
GeneticVariation
|
disease |
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: |
2201 |
| Gene Symbol: |
FBN2 |
FBN2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
7046 |
| Gene Symbol: |
TGFBR1 |
TGFBR1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
2200 |
| Gene Symbol: |
FBN1 |
FBN1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
9757 |
| Gene Symbol: |
KMT2B |
KMT2B
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
93627 |
| Gene Symbol: |
TBCK |
TBCK
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
5351 |
| Gene Symbol: |
PLOD1 |
PLOD1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
58538 |
| Gene Symbol: |
MPP4 |
MPP4
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|