|
| Entrez Id: |
25880 |
| Gene Symbol: |
TMEM186 |
TMEM186
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
|
20052547 |
2010 |
|
| Entrez Id: |
6606 |
| Gene Symbol: |
SMN1 |
SMN1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Spinal muscular atrophy diagnostics.
|
17761649 |
2007 |
|
| Entrez Id: |
6607 |
| Gene Symbol: |
SMN2 |
SMN2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Spinal muscular atrophy diagnostics.
|
17761649 |
2007 |
|
| Entrez Id: |
5476 |
| Gene Symbol: |
CTSA |
CTSA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Structural and functional study of K453E mutant protective protein/cathepsin A causing the late infantile form of galactosialidosis.
|
10944848 |
2000 |
|
| Entrez Id: |
5476 |
| Gene Symbol: |
CTSA |
CTSA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Molecular and biochemical analysis of protective protein/cathepsin A mutations: correlation with clinical severity in galactosialidosis.
|
8968752 |
1996 |
|
| Entrez Id: |
339983 |
| Gene Symbol: |
NAT8L |
NAT8L
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7862 |
| Gene Symbol: |
BRPF1 |
BRPF1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
87178 |
| Gene Symbol: |
PNPT1 |
PNPT1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9928 |
| Gene Symbol: |
KIF14 |
KIF14
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54463 |
| Gene Symbol: |
RETREG1 |
RETREG1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6228 |
| Gene Symbol: |
RPS23 |
RPS23
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
ARHGAP31
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10978 |
| Gene Symbol: |
CLP1 |
CLP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
RAB3GAP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6821 |
| Gene Symbol: |
SUOX |
SUOX
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
112858 |
| Gene Symbol: |
TP53RK |
TP53RK
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
60482 |
| Gene Symbol: |
SLC5A7 |
SLC5A7
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6833 |
| Gene Symbol: |
ABCC8 |
ABCC8
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1795 |
| Gene Symbol: |
DOCK3 |
DOCK3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57520 |
| Gene Symbol: |
HECW2 |
HECW2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
158 |
| Gene Symbol: |
ADSL |
ADSL
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
171023 |
| Gene Symbol: |
ASXL1 |
ASXL1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54187 |
| Gene Symbol: |
NANS |
NANS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10765 |
| Gene Symbol: |
KDM5B |
KDM5B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|