|
| Entrez Id: |
8216 |
| Gene Symbol: |
LZTR1 |
LZTR1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
|
29469822 |
2018 |
|
| 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: |
80816 |
| Gene Symbol: |
ASXL3 |
ASXL3
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
|
| Entrez Id: |
7518 |
| Gene Symbol: |
XRCC4 |
XRCC4
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Genomic analysis of primordial dwarfism reveals novel disease genes.
|
24389050 |
2014 |
|
| Entrez Id: |
4983 |
| Gene Symbol: |
OPHN1 |
OPHN1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4208 |
| Gene Symbol: |
MEF2C |
MEF2C
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4920 |
| Gene Symbol: |
ROR2 |
ROR2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23118 |
| Gene Symbol: |
TAB2 |
TAB2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23258 |
| Gene Symbol: |
DENND5A |
DENND5A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
998 |
| Gene Symbol: |
CDC42 |
CDC42
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10717 |
| Gene Symbol: |
AP4B1 |
AP4B1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
150468 |
| Gene Symbol: |
CKAP2L |
CKAP2L
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23431 |
| Gene Symbol: |
AP4E1 |
AP4E1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5308 |
| Gene Symbol: |
PITX2 |
PITX2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23096 |
| Gene Symbol: |
IQSEC2 |
IQSEC2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6597 |
| Gene Symbol: |
SMARCA4 |
SMARCA4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10815 |
| Gene Symbol: |
CPLX1 |
CPLX1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
SH3PXD2B
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8621 |
| Gene Symbol: |
CDK13 |
CDK13
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9508 |
| Gene Symbol: |
ADAMTS3 |
ADAMTS3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10716 |
| Gene Symbol: |
TBR1 |
TBR1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6792 |
| Gene Symbol: |
CDKL5 |
CDKL5
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4212 |
| Gene Symbol: |
MEIS2 |
MEIS2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55697 |
| Gene Symbol: |
VAC14 |
VAC14
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55023 |
| Gene Symbol: |
PHIP |
PHIP
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|