|
| Entrez Id: |
538 |
| Gene Symbol: |
ATP7A |
ATP7A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23476 |
| Gene Symbol: |
BRD4 |
BRD4
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome.
|
30302754 |
2019 |
|
| Entrez Id: |
815 |
| Gene Symbol: |
CAMK2A |
CAMK2A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
| Entrez Id: |
815 |
| Gene Symbol: |
CAMK2A |
CAMK2A
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
| Entrez Id: |
816 |
| Gene Symbol: |
CAMK2B |
CAMK2B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
|
| Entrez Id: |
857 |
| Gene Symbol: |
CAV1 |
CAV1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1593 |
| Gene Symbol: |
CYP27A1 |
CYP27A1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
1644 |
| Gene Symbol: |
DDC |
DDC
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2006 |
| Gene Symbol: |
ELN |
ELN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
FAM160B1
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
FAM160B1 deficit associated with microcephaly, severe intellectual disability, ataxia, behavioral abnormalities and speech problems.
|
31353455 |
2019 |
|
| Entrez Id: |
10516 |
| Gene Symbol: |
FBLN5 |
FBLN5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2222 |
| Gene Symbol: |
FDFT1 |
FDFT1
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
|
29909962 |
2018 |
|
| Entrez Id: |
93986 |
| Gene Symbol: |
FOXP2 |
FOXP2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2688 |
| Gene Symbol: |
GH1 |
GH1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2720 |
| Gene Symbol: |
GLB1 |
GLB1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55869 |
| Gene Symbol: |
HDAC8 |
HDAC8
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
170474 |
| Gene Symbol: |
HFM |
HFM
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate.
|
22750194 |
2010 |
|
| Entrez Id: |
170474 |
| Gene Symbol: |
HFM |
HFM
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Hemifacial microsomia (HFM) is the second most common facial anomaly after cleft lip and palate.
|
24816892 |
2014 |
|
| Entrez Id: |
64327 |
| Gene Symbol: |
LMBR1 |
LMBR1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4330 |
| Gene Symbol: |
MN1 |
MN1
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton.
|
15870292 |
2005 |
|
| Entrez Id: |
79728 |
| Gene Symbol: |
PALB2 |
PALB2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5468 |
| Gene Symbol: |
PPARG |
PPARG
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
112476 |
| Gene Symbol: |
PRRT2 |
PRRT2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5727 |
| Gene Symbol: |
PTCH1 |
PTCH1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|