|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2186 |
| Gene Symbol: |
BPTF |
BPTF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
|
| Entrez Id: |
9839 |
| Gene Symbol: |
ZEB2 |
ZEB2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1280 |
| Gene Symbol: |
COL2A1 |
COL2A1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23522 |
| Gene Symbol: |
KAT6B |
KAT6B
|
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: |
51412 |
| Gene Symbol: |
ACTL6B |
ACTL6B
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
|
| Entrez Id: |
7994 |
| Gene Symbol: |
KAT6A |
KAT6A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
|
25728777 |
2015 |
|
| Entrez Id: |
1778 |
| Gene Symbol: |
DYNC1H1 |
DYNC1H1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
89953 |
| Gene Symbol: |
KLC4 |
KLC4
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
|
30980518 |
2019 |
|
| Entrez Id: |
1654 |
| Gene Symbol: |
DDX3X |
DDX3X
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
10075 |
| Gene Symbol: |
HUWE1 |
HUWE1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23522 |
| Gene Symbol: |
KAT6B |
KAT6B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
| Entrez Id: |
10084 |
| Gene Symbol: |
PQBP1 |
PQBP1
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
11154 |
| Gene Symbol: |
AP4S1 |
AP4S1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
83932 |
| Gene Symbol: |
SPRTN |
SPRTN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
92002 |
| Gene Symbol: |
CCNQ |
CCNQ
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
117581 |
| Gene Symbol: |
TWIST2 |
TWIST2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10717 |
| Gene Symbol: |
AP4B1 |
AP4B1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
11113 |
| Gene Symbol: |
CIT |
CIT
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23363 |
| Gene Symbol: |
OBSL1 |
OBSL1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
29920 |
| Gene Symbol: |
PYCR2 |
PYCR2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8214 |
| Gene Symbol: |
DGCR6 |
DGCR6
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
100151683 |
| Gene Symbol: |
RNU4ATAC |
RNU4ATAC
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55343 |
| Gene Symbol: |
SLC35C1 |
SLC35C1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|