×
Entrez Id:
1656
Gene Symbol:
DDX6
DDX6
0.300
Biomarker
phenotype
GENOMICS_ENGLAND
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
31422817
2019
×
Entrez Id:
6647
Gene Symbol:
SOD1
SOD1
0.300
Biomarker
phenotype
CTD_human
Bromocriptine methylate suppresses glial inflammation and moderates disease progression in a mouse model of amyotrophic lateral sclerosis.
21867702
2011
×
Entrez Id:
54902
Gene Symbol:
TTC19
TTC19
0.300
Biomarker
phenotype
CTD_human
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
21278747
2011
×
Entrez Id:
3897
Gene Symbol:
L1CAM
L1CAM
0.300
Biomarker
phenotype
CTD_human
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
7920660
1994
×
Entrez Id:
10943
Gene Symbol:
MSL3
MSL3
0.300
Biomarker
phenotype
CTD_human
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
30224647
2018
×
Entrez Id:
8893
Gene Symbol:
EIF2B5
EIF2B5
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1725
Gene Symbol:
DHPS
DHPS
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2706
Gene Symbol:
GJB2
GJB2
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
2132
Gene Symbol:
EXT2
EXT2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
7167
Gene Symbol:
TPI1
TPI1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
55163
Gene Symbol:
PNPO
PNPO
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2566
Gene Symbol:
GABRG2
GABRG2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2561
Gene Symbol:
GABRB2
GABRB2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
26580
Gene Symbol:
BSCL2
BSCL2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
26999
Gene Symbol:
CYFIP2
CYFIP2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
113612
Gene Symbol:
CYP2U1
CYP2U1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
523
Gene Symbol:
ATP6V1A
ATP6V1A
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6812
Gene Symbol:
STXBP1
STXBP1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
116150
Gene Symbol:
NUS1
NUS1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
157680
Gene Symbol:
VPS13B
VPS13B
0.100
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
10846
Gene Symbol:
PDE10A
PDE10A
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
3064
Gene Symbol:
HTT
HTT
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6442
Gene Symbol:
SGCA
SGCA
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
8888
Gene Symbol:
MCM3AP
MCM3AP
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
2033
Gene Symbol:
EP300
EP300
0.100
Biomarker
phenotype
HPO