|
| 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 |
GENOMICS_ENGLAND |
Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
|
24697911 |
2014 |
|
| Entrez Id: |
26090 |
| Gene Symbol: |
ABHD12 |
ABHD12
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57716 |
| Gene Symbol: |
PRX |
PRX
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
SERPINI1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
26278 |
| Gene Symbol: |
SACS |
SACS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6663 |
| Gene Symbol: |
SOX10 |
SOX10
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8565 |
| Gene Symbol: |
YARS1 |
YARS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
857 |
| Gene Symbol: |
CAV1 |
CAV1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
59345 |
| Gene Symbol: |
GNB4 |
GNB4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7084 |
| Gene Symbol: |
TK2 |
TK2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
56704 |
| Gene Symbol: |
JPH1 |
JPH1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23095 |
| Gene Symbol: |
KIF1B |
KIF1B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80821 |
| Gene Symbol: |
DDHD1 |
DDHD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55699 |
| Gene Symbol: |
IARS2 |
IARS2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
26353 |
| Gene Symbol: |
HSPB8 |
HSPB8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3798 |
| Gene Symbol: |
KIF5A |
KIF5A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54332 |
| Gene Symbol: |
GDAP1 |
GDAP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8139 |
| Gene Symbol: |
GAN |
GAN
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
57165 |
| Gene Symbol: |
GJC2 |
GJC2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79628 |
| Gene Symbol: |
SH3TC2 |
SH3TC2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1337 |
| Gene Symbol: |
COX6A1 |
COX6A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
C12orf65
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
65260 |
| Gene Symbol: |
COA7 |
COA7
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2617 |
| Gene Symbol: |
GARS1 |
GARS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|