Entrez Id: |
9862 |
Gene Symbol: |
MED24 |
MED24
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
6833 |
Gene Symbol: |
ABCC8 |
ABCC8
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
8532 |
Gene Symbol: |
CPZ |
CPZ
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
57504 |
Gene Symbol: |
MTA3 |
MTA3
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
1294 |
Gene Symbol: |
COL7A1 |
COL7A1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
8467 |
Gene Symbol: |
SMARCA5 |
SMARCA5
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
154881 |
Gene Symbol: |
KCTD7 |
KCTD7
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
2778 |
Gene Symbol: |
GNAS |
GNAS
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
5888 |
Gene Symbol: |
RAD51 |
RAD51
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
23476 |
Gene Symbol: |
BRD4 |
BRD4
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
51119 |
Gene Symbol: |
SBDS |
SBDS
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
64319 |
Gene Symbol: |
FBRS |
FBRS
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
546 |
Gene Symbol: |
ATRX |
ATRX
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
23358 |
Gene Symbol: |
USP24 |
USP24
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
23363 |
Gene Symbol: |
OBSL1 |
OBSL1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |
Entrez Id: |
23499 |
Gene Symbol: |
MACF1 |
MACF1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
79876 |
Gene Symbol: |
UBA5 |
UBA5
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
23233 |
Gene Symbol: |
EXOC6B |
EXOC6B
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation.
|
23422942 |
2013 |
Entrez Id: |
361 |
Gene Symbol: |
AQP4 |
AQP4
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
NPHP3-ACAD11
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
473 |
Gene Symbol: |
RERE |
RERE
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
55558 |
Gene Symbol: |
PLXNA3 |
PLXNA3
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
84033 |
Gene Symbol: |
OBSCN |
OBSCN
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
11180 |
Gene Symbol: |
WDR6 |
WDR6
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
8632 |
Gene Symbol: |
DNAH17 |
DNAH17
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|