|
| Entrez Id: |
6638 |
| Gene Symbol: |
SNRPN |
SNRPN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57539 |
| Gene Symbol: |
WDR35 |
WDR35
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8642 |
| Gene Symbol: |
DCHS1 |
DCHS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
791114 |
| Gene Symbol: |
PWRN1 |
PWRN1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4692 |
| Gene Symbol: |
NDN |
NDN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3832 |
| Gene Symbol: |
KIF11 |
KIF11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
|
25115524 |
2014 |
|
| Entrez Id: |
1822 |
| Gene Symbol: |
ATN1 |
ATN1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
22827 |
| Gene Symbol: |
PUF60 |
PUF60
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9990 |
| Gene Symbol: |
SLC12A6 |
SLC12A6
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
259266 |
| Gene Symbol: |
ASPM |
ASPM
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23556 |
| Gene Symbol: |
PIGN |
PIGN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2006 |
| Gene Symbol: |
ELN |
ELN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
11342 |
| Gene Symbol: |
RNF13 |
RNF13
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
|
20683980 |
2010 |
|
| Entrez Id: |
7355 |
| Gene Symbol: |
SLC35A2 |
SLC35A2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
|
| Entrez Id: |
55644 |
| Gene Symbol: |
OSGEP |
OSGEP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
650 |
| Gene Symbol: |
BMP2 |
BMP2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
53616 |
| Gene Symbol: |
ADAM22 |
ADAM22
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8243 |
| Gene Symbol: |
SMC1A |
SMC1A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
26040 |
| Gene Symbol: |
SETBP1 |
SETBP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8506 |
| Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
|
| Entrez Id: |
7681 |
| Gene Symbol: |
MKRN3 |
MKRN3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5528 |
| Gene Symbol: |
PPP2R5D |
PPP2R5D
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8260 |
| Gene Symbol: |
NAA10 |
NAA10
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55704 |
| Gene Symbol: |
CCDC88A |
CCDC88A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|