|
| Entrez Id: |
259232 |
| Gene Symbol: |
NALCN |
NALCN
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
| Entrez Id: |
4285 |
| Gene Symbol: |
MIPEP |
MIPEP
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.
|
27799064 |
2016 |
|
| Entrez Id: |
10522 |
| Gene Symbol: |
DEAF1 |
DEAF1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
|
24668509 |
2014 |
|
| Entrez Id: |
5476 |
| Gene Symbol: |
CTSA |
CTSA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
|
24769197 |
2014 |
|
| 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: |
18 |
| Gene Symbol: |
ABAT |
ABAT
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy.
|
20052547 |
2010 |
|
| 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 |
|
|
|