|
| Entrez Id: |
29927 |
| Gene Symbol: |
SEC61A1 |
SEC61A1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1).
|
28782633 |
2018 |
|
| Entrez Id: |
3981 |
| Gene Symbol: |
LIG4 |
LIG4
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Extreme growth failure is a common presentation of ligase IV deficiency.
|
24123394 |
2014 |
|
| Entrez Id: |
3981 |
| Gene Symbol: |
LIG4 |
LIG4
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.
|
11779494 |
2001 |
|
| Entrez Id: |
2316 |
| Gene Symbol: |
FLNA |
FLNA
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
27040 |
| Gene Symbol: |
LAT |
LAT
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4478 |
| Gene Symbol: |
MSN |
MSN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7841 |
| Gene Symbol: |
MOGS |
MOGS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
100151683 |
| Gene Symbol: |
RNU4ATAC |
RNU4ATAC
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
TNFRSF13C
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9056 |
| Gene Symbol: |
SLC7A7 |
SLC7A7
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
TNFRSF11A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
147372 |
| Gene Symbol: |
CCBE1 |
CCBE1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1380 |
| Gene Symbol: |
CR2 |
CR2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9939 |
| Gene Symbol: |
RBM8A |
RBM8A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8915 |
| Gene Symbol: |
BCL10 |
BCL10
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6023 |
| Gene Symbol: |
RMRP |
RMRP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5295 |
| Gene Symbol: |
PIK3R1 |
PIK3R1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7852 |
| Gene Symbol: |
CXCR4 |
CXCR4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
22802 |
| Gene Symbol: |
CLCA4 |
CLCA4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
11005 |
| Gene Symbol: |
SPINK5 |
SPINK5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8742 |
| Gene Symbol: |
TNFSF12 |
TNFSF12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10320 |
| Gene Symbol: |
IKZF1 |
IKZF1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7157 |
| Gene Symbol: |
TP53 |
TP53
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9508 |
| Gene Symbol: |
ADAMTS3 |
ADAMTS3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
219285 |
| Gene Symbol: |
SAMD9L |
SAMD9L
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|