|
| 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: |
1141 |
| Gene Symbol: |
CHRNB2 |
CHRNB2
|
0.300 |
Therapeutic
|
phenotype |
CTD_human |
The β2 nicotinic acetylcholine receptor subunit differentially influences ethanol behavioral effects in the mouse.
|
23419392 |
2013 |
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment.
|
12427913 |
2002 |
|
| Entrez Id: |
7274 |
| Gene Symbol: |
TTPA |
TTPA
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Ataxia caused by mutations in the alpha-tocopherol transfer protein gene.
|
10896705 |
2000 |
|
| Entrez Id: |
18 |
| Gene Symbol: |
ABAT |
ABAT
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
|
10407778 |
1999 |
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80207 |
| Gene Symbol: |
OPA3 |
OPA3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4287 |
| Gene Symbol: |
ATXN3 |
ATXN3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9499 |
| Gene Symbol: |
MYOT |
MYOT
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55958 |
| Gene Symbol: |
KLHL9 |
KLHL9
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23204 |
| Gene Symbol: |
ARL6IP1 |
ARL6IP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10159 |
| Gene Symbol: |
ATP6AP2 |
ATP6AP2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
26278 |
| Gene Symbol: |
SACS |
SACS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1778 |
| Gene Symbol: |
DYNC1H1 |
DYNC1H1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
825 |
| Gene Symbol: |
CAPN3 |
CAPN3
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8878 |
| Gene Symbol: |
SQSTM1 |
SQSTM1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
C19orf12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4361 |
| Gene Symbol: |
MRE11 |
MRE11
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3094 |
| Gene Symbol: |
HINT1 |
HINT1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3035 |
| Gene Symbol: |
HARS1 |
HARS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
11232 |
| Gene Symbol: |
POLG2 |
POLG2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7415 |
| Gene Symbol: |
VCP |
VCP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|