|
| Entrez Id: |
64324 |
| Gene Symbol: |
NSD1 |
NSD1
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
The best predictive parameters for a NSD1 gene alteration were frontal bossing, down-slanted palpebral fissures, pointed chin and overgrowth.
|
15452385 |
2004 |
|
| Entrez Id: |
64324 |
| Gene Symbol: |
NSD1 |
NSD1
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
89953 |
| Gene Symbol: |
KLC4 |
KLC4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |
|
| Entrez Id: |
9820 |
| Gene Symbol: |
CUL7 |
CUL7
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |
|
| Entrez Id: |
51412 |
| Gene Symbol: |
ACTL6B |
ACTL6B
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
|
| Entrez Id: |
23363 |
| Gene Symbol: |
OBSL1 |
OBSL1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |
|
| Entrez Id: |
25 |
| Gene Symbol: |
ABL1 |
ABL1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
|
28288113 |
2017 |
|
| Entrez Id: |
8942 |
| Gene Symbol: |
KYNU |
KYNU
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
|
| Entrez Id: |
8506 |
| Gene Symbol: |
CNTNAP1 |
CNTNAP1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
|
| Entrez Id: |
51053 |
| Gene Symbol: |
GMNN |
GMNN
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
|
26637980 |
2015 |
|
| Entrez Id: |
2201 |
| Gene Symbol: |
FBN2 |
FBN2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
ATP6V0A2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6905 |
| Gene Symbol: |
TBCE |
TBCE
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
1947 |
| Gene Symbol: |
EFNB1 |
EFNB1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
4841 |
| Gene Symbol: |
NONO |
NONO
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
3930 |
| Gene Symbol: |
LBR |
LBR
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
9049 |
| Gene Symbol: |
AIP |
AIP
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
9897 |
| Gene Symbol: |
WASHC5 |
WASHC5
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
672 |
| Gene Symbol: |
BRCA1 |
BRCA1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
3425 |
| Gene Symbol: |
IDUA |
IDUA
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
29887 |
| Gene Symbol: |
SNX10 |
SNX10
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5295 |
| Gene Symbol: |
PIK3R1 |
PIK3R1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
114548 |
| Gene Symbol: |
NLRP3 |
NLRP3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
5831 |
| Gene Symbol: |
PYCR1 |
PYCR1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
4882 |
| Gene Symbol: |
NPR2 |
NPR2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|