Source: ALL
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 phenotype CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671 2017
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 158293
Gene Symbol: FAM120AOS
FAM120AOS 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7703
Gene Symbol: PCGF2
PCGF2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8701
Gene Symbol: DNAH11
DNAH11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.100 GeneticVariation phenotype CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 84294
Gene Symbol: UTP23
UTP23 		0.100 GeneticVariation phenotype CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Entrez Id: 23221
Gene Symbol: RHOBTB2
RHOBTB2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5885
Gene Symbol: RAD21
RAD21 		0.100 GeneticVariation phenotype CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1 		0.100 GeneticVariation phenotype CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898 2017
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		0.100 GeneticVariation phenotype CLINVAR