|
| Entrez Id: |
60 |
| Gene Symbol: |
ACTB |
ACTB
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
7436 |
| Gene Symbol: |
VLDLR |
VLDLR
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
1778 |
| Gene Symbol: |
DYNC1H1 |
DYNC1H1
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
71 |
| Gene Symbol: |
ACTG1 |
ACTG1
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
3796 |
| Gene Symbol: |
KIF2A |
KIF2A
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
284403 |
| Gene Symbol: |
WDR62 |
WDR62
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
3796 |
| Gene Symbol: |
KIF2A |
KIF2A
|
0.110 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
7283 |
| Gene Symbol: |
TUBG1 |
TUBG1
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
81689 |
| Gene Symbol: |
ISCA1 |
ISCA1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome.
|
28356563 |
2017 |
|
| Entrez Id: |
8417 |
| Gene Symbol: |
STX7 |
STX7
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mosaic parental germline mutations causing recurrent forms of malformations of cortical development.
|
26395554 |
2016 |
|
| Entrez Id: |
55624 |
| Gene Symbol: |
POMGNT1 |
POMGNT1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
| Entrez Id: |
22995 |
| Gene Symbol: |
CEP152 |
CEP152
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
9289 |
| Gene Symbol: |
ADGRG1 |
ADGRG1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
27292 |
| Gene Symbol: |
DIMT1 |
DIMT1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
6812 |
| Gene Symbol: |
STXBP1 |
STXBP1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
9091 |
| Gene Symbol: |
PIGQ |
PIGQ
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
50814 |
| Gene Symbol: |
NSDHL |
NSDHL
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
729920 |
| Gene Symbol: |
CRPPA |
CRPPA
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
26128 |
| Gene Symbol: |
KIFBP |
KIFBP
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
147372 |
| Gene Symbol: |
CCBE1 |
CCBE1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
RAB3GAP2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
23141 |
| Gene Symbol: |
ANKLE2 |
ANKLE2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
112858 |
| Gene Symbol: |
TP53RK |
TP53RK
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6326 |
| Gene Symbol: |
SCN2A |
SCN2A
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
22931 |
| Gene Symbol: |
RAB18 |
RAB18
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|