|
| 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: |
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: |
18 |
| Gene Symbol: |
ABAT |
ABAT
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
4-Aminobutyrate aminotransferase (GABA-transaminase) deficiency.
|
10407778 |
1999 |
|
| 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 |
|
|
|