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: 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: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		0.010 Biomarker phenotype BEFREE Recently, we reported a newly recognised inborn error due to deficiency of P5CS in two sibs, one presenting at birth with hypotonia, dysmorphic signs, pes planus and clonic seizures. 15517380 2005
Entrez Id: 10630
Gene Symbol: PDPN
PDPN 		0.010 Biomarker phenotype BEFREE Podoplanin was identified as a protein associated with the transformation of arborized foot processes of glomerular epithelial cells (podocytes) to flat feet. 25920588 2015
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: 4204
Gene Symbol: MECP2
MECP2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		0.100 CausalMutation phenotype CLINVAR
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: 5189
Gene Symbol: PEX1
PEX1 		0.100 CausalMutation 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: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation 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: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1103
Gene Symbol: CHAT
CHAT 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		0.100 CausalMutation phenotype CLINVAR
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