|
| Entrez Id: |
16 |
| Gene Symbol: |
AARS1 |
AARS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
26090 |
| Gene Symbol: |
ABHD12 |
ABHD12
|
0.400 |
CausalMutation
|
phenotype |
CLINVAR |
Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene.
|
29571850 |
2018 |
|
| Entrez Id: |
26090 |
| Gene Symbol: |
ABHD12 |
ABHD12
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| 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: |
9131 |
| Gene Symbol: |
AIFM1 |
AIFM1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54840 |
| Gene Symbol: |
APTX |
APTX
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51062 |
| Gene Symbol: |
ATL1 |
ATL1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
51062 |
| Gene Symbol: |
ATL1 |
ATL1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23400 |
| Gene Symbol: |
ATP13A2 |
ATP13A2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9531 |
| Gene Symbol: |
BAG3 |
BAG3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
26580 |
| Gene Symbol: |
BSCL2 |
BSCL2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
C12orf65
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
C19orf12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
857 |
| Gene Symbol: |
CAV1 |
CAV1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
22948 |
| Gene Symbol: |
CCT5 |
CCT5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
65260 |
| Gene Symbol: |
COA7 |
COA7
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1337 |
| Gene Symbol: |
COX6A1 |
COX6A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80821 |
| Gene Symbol: |
DDHD1 |
DDHD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3300 |
| Gene Symbol: |
DNAJB2 |
DNAJB2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1785 |
| Gene Symbol: |
DNM2 |
DNM2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1778 |
| Gene Symbol: |
DYNC1H1 |
DYNC1H1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1959 |
| Gene Symbol: |
EGR2 |
EGR2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10516 |
| Gene Symbol: |
FBLN5 |
FBLN5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
121512 |
| Gene Symbol: |
FGD4 |
FGD4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9896 |
| Gene Symbol: |
FIG4 |
FIG4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|