|
| Entrez Id: |
2548 |
| Gene Symbol: |
GAA |
GAA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.
|
26160551 |
2015 |
|
| Entrez Id: |
6606 |
| Gene Symbol: |
SMN1 |
SMN1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.
|
24498607 |
2013 |
|
| Entrez Id: |
6607 |
| Gene Symbol: |
SMN2 |
SMN2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A homozygous double mutation in SMN1: a complicated genetic diagnosis of SMA.
|
24498607 |
2013 |
|
| Entrez Id: |
85365 |
| Gene Symbol: |
ALG2 |
ALG2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
50717 |
| Gene Symbol: |
DCAF8 |
DCAF8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
200205 |
| Gene Symbol: |
IBA57 |
IBA57
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3508 |
| Gene Symbol: |
IGHMBP2 |
IGHMBP2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8566 |
| Gene Symbol: |
PDXK |
PDXK
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
56052 |
| Gene Symbol: |
ALG1 |
ALG1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6572 |
| Gene Symbol: |
SLC18A3 |
SLC18A3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1291 |
| Gene Symbol: |
COL6A1 |
COL6A1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
9325 |
| Gene Symbol: |
TRIP4 |
TRIP4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51305 |
| Gene Symbol: |
KCNK9 |
KCNK9
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51763 |
| Gene Symbol: |
INPP5K |
INPP5K
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
667 |
| Gene Symbol: |
DST |
DST
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
63895 |
| Gene Symbol: |
PIEZO2 |
PIEZO2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
10558 |
| Gene Symbol: |
SPTLC1 |
SPTLC1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51099 |
| Gene Symbol: |
ABHD5 |
ABHD5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5828 |
| Gene Symbol: |
PEX2 |
PEX2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23064 |
| Gene Symbol: |
SETX |
SETX
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80208 |
| Gene Symbol: |
SPG11 |
SPG11
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23590 |
| Gene Symbol: |
PDSS1 |
PDSS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5981 |
| Gene Symbol: |
RFC1 |
RFC1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
182 |
| Gene Symbol: |
JAG1 |
JAG1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
81857 |
| Gene Symbol: |
MED25 |
MED25
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|