Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3236
Gene Symbol: HOXD10
HOXD10 		0.300 Biomarker phenotype CTD_human Human HOX gene disorders. 24239177 2014
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: 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: 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: 26053
Gene Symbol: AUTS2
AUTS2 		0.110 GeneticVariation phenotype CLINVAR
Entrez Id: 2006
Gene Symbol: ELN
ELN 		0.110 Biomarker phenotype HPO
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.100 CausalMutation phenotype CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
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: 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: 80816
Gene Symbol: ASXL3
ASXL3 		0.100 CausalMutation phenotype CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
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
Entrez Id: 2617
Gene Symbol: GARS1
GARS1 		0.100 Biomarker phenotype HPO
Entrez Id: 60675
Gene Symbol: PROK2
PROK2 		0.100 Biomarker phenotype HPO
Entrez Id: 9394
Gene Symbol: HS6ST1
HS6ST1 		0.100 Biomarker phenotype HPO
Entrez Id: 2673
Gene Symbol: GFPT1
GFPT1 		0.100 Biomarker phenotype HPO
Entrez Id: 7204
Gene Symbol: TRIO
TRIO 		0.100 Biomarker phenotype HPO
Entrez Id: 55023
Gene Symbol: PHIP
PHIP 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 57190
Gene Symbol: SELENON
SELENON 		0.100 Biomarker phenotype HPO
Entrez Id: 26229
Gene Symbol: B3GAT3
B3GAT3 		0.100 Biomarker phenotype HPO
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A 		0.100 Biomarker phenotype HPO