Entrez Id: |
215 |
Gene Symbol: |
ABCD1 |
ABCD1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
25 |
Gene Symbol: |
ABL1 |
ABL1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations.
|
28288113 |
2017 |
ALDH18A1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
56052 |
Gene Symbol: |
ALG1 |
ALG1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
171023 |
Gene Symbol: |
ASXL1 |
ASXL1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
55636 |
Gene Symbol: |
CHD7 |
CHD7
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
23332 |
Gene Symbol: |
CLASP1 |
CLASP1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
23332 |
Gene Symbol: |
CLASP1 |
CLASP1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
1188 |
Gene Symbol: |
CLCNKB |
CLCNKB
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
25839 |
Gene Symbol: |
COG4 |
COG4
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
91949 |
Gene Symbol: |
COG7 |
COG7
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
91949 |
Gene Symbol: |
COG7 |
COG7
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
1499 |
Gene Symbol: |
CTNNB1 |
CTNNB1
|
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: |
1615 |
Gene Symbol: |
DARS1 |
DARS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
1717 |
Gene Symbol: |
DHCR7 |
DHCR7
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
79659 |
Gene Symbol: |
DYNC2H1 |
DYNC2H1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
1859 |
Gene Symbol: |
DYRK1A |
DYRK1A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
Entrez Id: |
1859 |
Gene Symbol: |
DYRK1A |
DYRK1A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
Entrez Id: |
9343 |
Gene Symbol: |
EFTUD2 |
EFTUD2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
2581 |
Gene Symbol: |
GALC |
GALC
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
51053 |
Gene Symbol: |
GMNN |
GMNN
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
|
26637980 |
2015 |
Entrez Id: |
2778 |
Gene Symbol: |
GNAS |
GNAS
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
2904 |
Gene Symbol: |
GRIN2B |
GRIN2B
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
Entrez Id: |
55869 |
Gene Symbol: |
HDAC8 |
HDAC8
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|