|
| Entrez Id: |
29123 |
| Gene Symbol: |
ANKRD11 |
ANKRD11
|
0.100 |
GeneticVariation
|
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: |
6654 |
| Gene Symbol: |
SOS1 |
SOS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6664 |
| Gene Symbol: |
SOX11 |
SOX11
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1387 |
| Gene Symbol: |
CREBBP |
CREBBP
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
9321 |
| Gene Symbol: |
TRIP11 |
TRIP11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
7227 |
| Gene Symbol: |
TRPS1 |
TRPS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2033 |
| Gene Symbol: |
EP300 |
EP300
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
55023 |
| Gene Symbol: |
PHIP |
PHIP
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5781 |
| Gene Symbol: |
PTPN11 |
PTPN11
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
57459 |
| Gene Symbol: |
GATAD2B |
GATAD2B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
55650 |
| Gene Symbol: |
PIGV |
PIGV
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
51633 |
| Gene Symbol: |
OTUD6B |
OTUD6B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
9126 |
| Gene Symbol: |
SMC3 |
SMC3
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
|
22426309 |
2012 |
|
| Entrez Id: |
2200 |
| Gene Symbol: |
FBN1 |
FBN1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4204 |
| Gene Symbol: |
MECP2 |
MECP2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
|
| Entrez Id: |
71 |
| Gene Symbol: |
ACTG1 |
ACTG1
|
0.400 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
11113 |
| Gene Symbol: |
CIT |
CIT
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
284403 |
| Gene Symbol: |
WDR62 |
WDR62
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57082 |
| Gene Symbol: |
KNL1 |
KNL1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
84188 |
| Gene Symbol: |
FAR1 |
FAR1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5718 |
| Gene Symbol: |
PSMD12 |
PSMD12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|