|
PTCHD1-AS
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
84265 |
| Gene Symbol: |
POLR3GL |
POLR3GL
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8036 |
| Gene Symbol: |
SHOC2 |
SHOC2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
|
19684605 |
2009 |
|
| Entrez Id: |
1047 |
| Gene Symbol: |
CLGN |
CLGN
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23352 |
| Gene Symbol: |
UBR4 |
UBR4
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
56984 |
| Gene Symbol: |
PSMG2 |
PSMG2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3911 |
| Gene Symbol: |
LAMA5 |
LAMA5
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8216 |
| Gene Symbol: |
LZTR1 |
LZTR1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8036 |
| Gene Symbol: |
SHOC2 |
SHOC2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
|
22528146 |
2012 |
|
| Entrez Id: |
25932 |
| Gene Symbol: |
CLIC4 |
CLIC4
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
80201 |
| Gene Symbol: |
HKDC1 |
HKDC1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
57187 |
| Gene Symbol: |
THOC2 |
THOC2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
9820 |
| Gene Symbol: |
CUL7 |
CUL7
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |
|
| Entrez Id: |
23024 |
| Gene Symbol: |
PDZRN3 |
PDZRN3
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
79813 |
| Gene Symbol: |
EHMT1 |
EHMT1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8406 |
| Gene Symbol: |
SRPX |
SRPX
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
80152 |
| Gene Symbol: |
CENPT |
CENPT
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6786 |
| Gene Symbol: |
STIM1 |
STIM1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
84376 |
| Gene Symbol: |
HOOK3 |
HOOK3
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
196441 |
| Gene Symbol: |
ZFC3H1 |
ZFC3H1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
773 |
| Gene Symbol: |
CACNA1A |
CACNA1A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1778 |
| Gene Symbol: |
DYNC1H1 |
DYNC1H1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
79631 |
| Gene Symbol: |
EFL1 |
EFL1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
8817 |
| Gene Symbol: |
FGF18 |
FGF18
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
7486 |
| Gene Symbol: |
WRN |
WRN
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|