Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57178
Gene Symbol: ZMIZ1
ZMIZ1 		0.100 GeneticVariation phenotype CLINVAR ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. 30639322 2019
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: 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: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation phenotype CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 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: 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: 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: 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: 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: 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: 54802
Gene Symbol: TRIT1
TRIT1 		0.100 Biomarker phenotype HPO
Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		0.100 Biomarker phenotype HPO
Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5 		0.100 Biomarker phenotype HPO
Entrez Id: 10815
Gene Symbol: CPLX1
CPLX1 		0.100 Biomarker phenotype HPO
Entrez Id: 26999
Gene Symbol: CYFIP2
CYFIP2 		0.100 Biomarker phenotype HPO
Entrez Id: 81887
Gene Symbol: LAS1L
LAS1L 		0.100 Biomarker phenotype HPO
Entrez Id: 26005
Gene Symbol: C2CD3
C2CD3 		0.100 Biomarker phenotype HPO
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3 		0.100 Biomarker phenotype HPO
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2906
Gene Symbol: GRIN2D
GRIN2D 		0.100 Biomarker phenotype HPO
Entrez Id: 54805
Gene Symbol: CNNM2
CNNM2 		0.100 Biomarker phenotype HPO
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4 		0.100 Biomarker phenotype HPO