|
| Entrez Id: |
2186 |
| Gene Symbol: |
BPTF |
BPTF
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
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: |
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: |
1991 |
| Gene Symbol: |
ELANE |
ELANE
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
KIAA1109
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
6536 |
| Gene Symbol: |
SLC6A9 |
SLC6A9
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
10075 |
| Gene Symbol: |
HUWE1 |
HUWE1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
171023 |
| Gene Symbol: |
ASXL1 |
ASXL1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
79053 |
| Gene Symbol: |
ALG8 |
ALG8
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
3796 |
| Gene Symbol: |
KIF2A |
KIF2A
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
10262 |
| Gene Symbol: |
SF3B4 |
SF3B4
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
26040 |
| Gene Symbol: |
SETBP1 |
SETBP1
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
26100 |
| Gene Symbol: |
WIPI2 |
WIPI2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
51633 |
| Gene Symbol: |
OTUD6B |
OTUD6B
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
57003 |
| Gene Symbol: |
CCDC47 |
CCDC47
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2737 |
| Gene Symbol: |
GLI3 |
GLI3
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
2132 |
| Gene Symbol: |
EXT2 |
EXT2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
7874 |
| Gene Symbol: |
USP7 |
USP7
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
7703 |
| Gene Symbol: |
PCGF2 |
PCGF2
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
1717 |
| Gene Symbol: |
DHCR7 |
DHCR7
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
93627 |
| Gene Symbol: |
TBCK |
TBCK
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
8239 |
| Gene Symbol: |
USP9X |
USP9X
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
9230 |
| Gene Symbol: |
RAB11B |
RAB11B
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
170302 |
| Gene Symbol: |
ARX |
ARX
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
| Entrez Id: |
27292 |
| Gene Symbol: |
DIMT1 |
DIMT1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|