Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 2896
Gene Symbol: GRN
GRN
0.100 Biomarker disease HPO
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
0.100 Biomarker disease HPO
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
0.100 CausalMutation disease CLINVAR
Entrez Id: 131118
Gene Symbol: DNAJC19
DNAJC19
0.100 Biomarker disease HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.100 CausalMutation disease CLINVAR