Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26040
Gene Symbol: SETBP1
SETBP1 		0.010 GeneticVariation phenotype BEFREE In correlation with the exclusive deletion of SETBP1, this study delimits a milder phenotype distinct from SGS overlapping with the previously described phenotype of del(18)(q12.2q21.1) syndrome including global developmental, expressive language delay and distinctive facial features. 21037274 2011
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1 		0.020 GeneticVariation phenotype BEFREE (2014) De Novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.Am.J. Hum.Genet., 94, 784-789]. 25574029 2015
Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1 		0.020 GeneticVariation phenotype BEFREE De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 24791903 2014
Entrez Id: 2186
Gene Symbol: BPTF
BPTF 		0.100 GeneticVariation phenotype CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
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: 253738
Gene Symbol: EBF3
EBF3 		0.100 CausalMutation phenotype CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.100 CausalMutation phenotype CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 93986
Gene Symbol: FOXP2
FOXP2 		0.100 Biomarker phenotype HPO
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 201163
Gene Symbol: FLCN
FLCN 		0.100 Biomarker phenotype HPO
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10381
Gene Symbol: TUBB3
TUBB3 		0.100 Biomarker phenotype HPO
Entrez Id: 6389
Gene Symbol: SDHA
SDHA 		0.100 Biomarker phenotype HPO
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10020
Gene Symbol: GNE
GNE 		0.100 Biomarker phenotype HPO
Entrez Id: 644096
Gene Symbol: SDHAF1
SDHAF1 		0.100 Biomarker phenotype HPO
Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.100 Biomarker phenotype HPO