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 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