Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5830
Gene Symbol: PEX5
PEX5 		0.100 CausalMutation phenotype CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
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: 10075
Gene Symbol: HUWE1
HUWE1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		0.100 CausalMutation phenotype CLINVAR Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 22290197 2012
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 54872
Gene Symbol: PIGG
PIGG 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55163
Gene Symbol: PNPO
PNPO 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1 		0.100 CausalMutation phenotype CLINVAR Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) . 22290197 2012
Entrez Id: 25839
Gene Symbol: COG4
COG4 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		0.100 CausalMutation phenotype CLINVAR
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: 25836
Gene Symbol: NIPBL
NIPBL 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		0.100 CausalMutation phenotype CLINVAR Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 21620353 2011
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1 		0.100 CausalMutation phenotype CLINVAR A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. 21440262 2011
Entrez Id: 9320
Gene Symbol: TRIP12
TRIP12 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1 		0.100 CausalMutation phenotype CLINVAR Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. 21620353 2011
Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1 		0.100 CausalMutation phenotype CLINVAR A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum. 21440262 2011
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7468
Gene Symbol: NSD2
NSD2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Small 4p16.3 deletions: Three additional patients and review of the literature. 30244530 2018
Entrez Id: 10735
Gene Symbol: STAG2
STAG2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Microduplication of chromosome Xq25 encompassing STAG2 gene in a boy with intellectual disability. 25450604 2015
Entrez Id: 6659
Gene Symbol: SOX4
SOX4 		0.300 Biomarker phenotype GENOMICS_ENGLAND De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772 2019