|
| Entrez Id: |
26090 |
| Gene Symbol: |
ABHD12 |
ABHD12
|
0.400 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
|
24697911 |
2014 |
|
| 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: |
26090 |
| Gene Symbol: |
ABHD12 |
ABHD12
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
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: |
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: |
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: |
51763 |
| Gene Symbol: |
INPP5K |
INPP5K
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4747 |
| Gene Symbol: |
NEFL |
NEFL
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23114 |
| Gene Symbol: |
NFASC |
NFASC
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
367 |
| Gene Symbol: |
AR |
AR
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1795 |
| Gene Symbol: |
DOCK3 |
DOCK3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79947 |
| Gene Symbol: |
DHDDS |
DHDDS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
25814 |
| Gene Symbol: |
ATXN10 |
ATXN10
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3098 |
| Gene Symbol: |
HK1 |
HK1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
774 |
| Gene Symbol: |
CACNA1B |
CACNA1B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
58 |
| Gene Symbol: |
ACTA1 |
ACTA1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3752 |
| Gene Symbol: |
KCND3 |
KCND3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
390594 |
| Gene Symbol: |
KBTBD13 |
KBTBD13
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1959 |
| Gene Symbol: |
EGR2 |
EGR2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
523 |
| Gene Symbol: |
ATP6V1A |
ATP6V1A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
404672 |
| Gene Symbol: |
GTF2H5 |
GTF2H5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8292 |
| Gene Symbol: |
COLQ |
COLQ
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
87178 |
| Gene Symbol: |
PNPT1 |
PNPT1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|