|
| Entrez Id: |
10522 |
| Gene Symbol: |
DEAF1 |
DEAF1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
|
| Entrez Id: |
23498 |
| Gene Symbol: |
HAAO |
HAAO
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
|
| Entrez Id: |
10522 |
| Gene Symbol: |
DEAF1 |
DEAF1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
|
28213671 |
2017 |
|
| Entrez Id: |
29072 |
| Gene Symbol: |
SETD2 |
SETD2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
100151683 |
| Gene Symbol: |
RNU4ATAC |
RNU4ATAC
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
51364 |
| Gene Symbol: |
ZMYND10 |
ZMYND10
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
93233 |
| Gene Symbol: |
CCDC114 |
CCDC114
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
86 |
| Gene Symbol: |
ACTL6A |
ACTL6A
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
2261 |
| Gene Symbol: |
FGFR3 |
FGFR3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
85478 |
| Gene Symbol: |
CCDC65 |
CCDC65
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
987 |
| Gene Symbol: |
LRBA |
LRBA
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
113179 |
| Gene Symbol: |
ADAT3 |
ADAT3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10847 |
| Gene Symbol: |
SRCAP |
SRCAP
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
973 |
| Gene Symbol: |
CD79A |
CD79A
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10806 |
| Gene Symbol: |
SDCCAG8 |
SDCCAG8
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
916 |
| Gene Symbol: |
CD3E |
CD3E
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
3373 |
| Gene Symbol: |
HYAL1 |
HYAL1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
54768 |
| Gene Symbol: |
HYDIN |
HYDIN
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
55036 |
| Gene Symbol: |
CCDC40 |
CCDC40
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
60468 |
| Gene Symbol: |
BACH2 |
BACH2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2006 |
| Gene Symbol: |
ELN |
ELN
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
55343 |
| Gene Symbol: |
SLC35C1 |
SLC35C1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
79813 |
| Gene Symbol: |
EHMT1 |
EHMT1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
6929 |
| Gene Symbol: |
TCF3 |
TCF3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
84905 |
| Gene Symbol: |
ZNF341 |
ZNF341
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|