|
| Entrez Id: |
1291 |
| Gene Symbol: |
COL6A1 |
COL6A1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
63895 |
| Gene Symbol: |
PIEZO2 |
PIEZO2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6607 |
| Gene Symbol: |
SMN2 |
SMN2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4358 |
| Gene Symbol: |
MPV17 |
MPV17
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6606 |
| Gene Symbol: |
SMN1 |
SMN1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3020 |
| Gene Symbol: |
H3-3A |
H3-3A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3508 |
| Gene Symbol: |
IGHMBP2 |
IGHMBP2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
64207 |
| Gene Symbol: |
IRF2BPL |
IRF2BPL
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment.
|
12427913 |
2002 |
|
| Entrez Id: |
7274 |
| Gene Symbol: |
TTPA |
TTPA
|
0.400 |
Biomarker
|
phenotype |
CTD_human |
Ataxia caused by mutations in the alpha-tocopherol transfer protein gene.
|
10896705 |
2000 |
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7274 |
| Gene Symbol: |
TTPA |
TTPA
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6314 |
| Gene Symbol: |
ATXN7 |
ATXN7
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.
|
25664129 |
2014 |
|
| Entrez Id: |
18 |
| Gene Symbol: |
ABAT |
ABAT
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
|
10407778 |
1999 |
|
| 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: |
9325 |
| Gene Symbol: |
TRIP4 |
TRIP4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51305 |
| Gene Symbol: |
KCNK9 |
KCNK9
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|