Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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