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: |
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: |
25836 |
Gene Symbol: |
NIPBL |
NIPBL
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
Entrez Id: |
6663 |
Gene Symbol: |
SOX10 |
SOX10
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
3313 |
Gene Symbol: |
HSPA9 |
HSPA9
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
3192 |
Gene Symbol: |
HNRNPU |
HNRNPU
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
54361 |
Gene Symbol: |
WNT4 |
WNT4
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
23461 |
Gene Symbol: |
ABCA5 |
ABCA5
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
8243 |
Gene Symbol: |
SMC1A |
SMC1A
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6448 |
Gene Symbol: |
SGSH |
SGSH
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
5518 |
Gene Symbol: |
PPP2R1A |
PPP2R1A
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
5373 |
Gene Symbol: |
PMM2 |
PMM2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
5885 |
Gene Symbol: |
RAD21 |
RAD21
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
11160 |
Gene Symbol: |
ERLIN2 |
ERLIN2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
84300 |
Gene Symbol: |
UQCC2 |
UQCC2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
10087 |
Gene Symbol: |
CERT1 |
CERT1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
54888 |
Gene Symbol: |
NSUN2 |
NSUN2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
55209 |
Gene Symbol: |
SETD5 |
SETD5
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
171023 |
Gene Symbol: |
ASXL1 |
ASXL1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
79228 |
Gene Symbol: |
THOC6 |
THOC6
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
55869 |
Gene Symbol: |
HDAC8 |
HDAC8
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
4853 |
Gene Symbol: |
NOTCH2 |
NOTCH2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
5077 |
Gene Symbol: |
PAX3 |
PAX3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
4669 |
Gene Symbol: |
NAGLU |
NAGLU
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Entrez Id: |
55777 |
Gene Symbol: |
MBD5 |
MBD5
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|