Entrez Id: |
6833 |
Gene Symbol: |
ABCC8 |
ABCC8
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
513 |
Gene Symbol: |
ATP5F1D |
ATP5F1D
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
|
29478781 |
2018 |
Entrez Id: |
1593 |
Gene Symbol: |
CYP27A1 |
CYP27A1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
SCN1A-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
91949 |
Gene Symbol: |
COG7 |
COG7
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
2720 |
Gene Symbol: |
GLB1 |
GLB1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
2706 |
Gene Symbol: |
GJB2 |
GJB2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
23522 |
Gene Symbol: |
KAT6B |
KAT6B
|
0.100 |
CausalMutation
|
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: |
6326 |
Gene Symbol: |
SCN2A |
SCN2A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
55904 |
Gene Symbol: |
KMT2E |
KMT2E
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
22983 |
Gene Symbol: |
MAST1 |
MAST1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
284217 |
Gene Symbol: |
LAMA1 |
LAMA1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
5518 |
Gene Symbol: |
PPP2R1A |
PPP2R1A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
55636 |
Gene Symbol: |
CHD7 |
CHD7
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
57479 |
Gene Symbol: |
PRR12 |
PRR12
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
3508 |
Gene Symbol: |
IGHMBP2 |
IGHMBP2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
5538 |
Gene Symbol: |
PPT1 |
PPT1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
5530 |
Gene Symbol: |
PPP3CA |
PPP3CA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
4534 |
Gene Symbol: |
MTM1 |
MTM1
|
0.100 |
CausalMutation
|
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: |
6606 |
Gene Symbol: |
SMN1 |
SMN1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Spinal muscular atrophy diagnostics.
|
17761649 |
2007 |
Entrez Id: |
54870 |
Gene Symbol: |
QRICH1 |
QRICH1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
8398 |
Gene Symbol: |
PLA2G6 |
PLA2G6
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
6942 |
Gene Symbol: |
TCF20 |
TCF20
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
5190 |
Gene Symbol: |
PEX6 |
PEX6
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
58538 |
Gene Symbol: |
MPP4 |
MPP4
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|