Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		0.110 GeneticVariation phenotype BEFREE Here we report a 62 kb de novo deletion encompassing exon 6 of AUTS2 detected by chromosomal microarray analysis (CMA) in a 4.5 year-old female patient with severe speech and language disorder, history of tonic-clonic movements, and pes planus with eversion of the feet. 24459036 2014
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		0.110 GeneticVariation phenotype CLINVAR
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		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: 1292
Gene Symbol: COL6A2
COL6A2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		0.100 GeneticVariation phenotype CLINVAR
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: 5813
Gene Symbol: PURA
PURA 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1376
Gene Symbol: CPT2
CPT2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3236
Gene Symbol: HOXD10
HOXD10 		0.300 Biomarker phenotype CTD_human HOXD10 M319K mutation in a family with isolated congenital vertical talus. 16450407 2006
Entrez Id: 3236
Gene Symbol: HOXD10
HOXD10 		0.300 Biomarker phenotype CTD_human A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. 15146389 2004
Entrez Id: 3236
Gene Symbol: HOXD10
HOXD10 		0.300 Biomarker phenotype CTD_human Human HOX gene disorders. 24239177 2014
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.110 Biomarker phenotype HPO
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.110 Biomarker phenotype BEFREE An associated connective-tissue disorder involving elastin accounts for the most frequent musculoskeletal manifestations, which include severe flexible flat feet, excessive laxity of the joints, and scoliosis. 2195034 1990
Entrez Id: 545
Gene Symbol: ATR
ATR 		0.100 Biomarker phenotype HPO
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		0.100 Biomarker phenotype HPO
Entrez Id: 8822
Gene Symbol: FGF17
FGF17 		0.100 Biomarker phenotype HPO
Entrez Id: 2563
Gene Symbol: GABRD
GABRD 		0.100 Biomarker phenotype HPO
Entrez Id: 4841
Gene Symbol: NONO
NONO 		0.100 Biomarker phenotype HPO