Entrez Id: |
10060 |
Gene Symbol: |
ABCC9 |
ABCC9
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
Entrez Id: |
55975 |
Gene Symbol: |
KLHL7 |
KLHL7
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
2200 |
Gene Symbol: |
FBN1 |
FBN1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
6598 |
Gene Symbol: |
SMARCB1 |
SMARCB1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
8831 |
Gene Symbol: |
SYNGAP1 |
SYNGAP1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
23036 |
Gene Symbol: |
ZNF292 |
ZNF292
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
171023 |
Gene Symbol: |
ASXL1 |
ASXL1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
84231 |
Gene Symbol: |
TRAF7 |
TRAF7
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
8289 |
Gene Symbol: |
ARID1A |
ARID1A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
2200 |
Gene Symbol: |
FBN1 |
FBN1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
27086 |
Gene Symbol: |
FOXP1 |
FOXP1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
8239 |
Gene Symbol: |
USP9X |
USP9X
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
6334 |
Gene Symbol: |
SCN8A |
SCN8A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
51322 |
Gene Symbol: |
WAC |
WAC
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
9839 |
Gene Symbol: |
ZEB2 |
ZEB2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
2737 |
Gene Symbol: |
GLI3 |
GLI3
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
79813 |
Gene Symbol: |
EHMT1 |
EHMT1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
10075 |
Gene Symbol: |
HUWE1 |
HUWE1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
100506866 |
Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
7273 |
Gene Symbol: |
TTN |
TTN
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
3190 |
Gene Symbol: |
HNRNPK |
HNRNPK
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
6654 |
Gene Symbol: |
SOS1 |
SOS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
58538 |
Gene Symbol: |
MPP4 |
MPP4
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
79659 |
Gene Symbol: |
DYNC2H1 |
DYNC2H1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
29123 |
Gene Symbol: |
ANKRD11 |
ANKRD11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|