Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2 		0.100 GeneticVariation disease CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854 2019
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B 		0.100 CausalMutation disease CLINVAR Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases. 28077840 2017
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation disease CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.100 CausalMutation disease CLINVAR Nationwide survey of glucose transporter-1 deficiency syndrome (GLUT-1DS) in Japan. 25487684 2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation disease CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.100 CausalMutation disease CLINVAR Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome. 22976442 2012
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1 		0.100 CausalMutation disease CLINVAR Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. 21555602 2011
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		0.100 CausalMutation disease CLINVAR
Entrez Id: 7020
Gene Symbol: TFAP2A
TFAP2A 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		0.100 CausalMutation disease CLINVAR
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB 		0.100 CausalMutation disease CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 2290
Gene Symbol: FOXG1
FOXG1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 4361
Gene Symbol: MRE11
MRE11 		0.100 CausalMutation disease CLINVAR
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1788
Gene Symbol: DNMT3A
DNMT3A 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 4285
Gene Symbol: MIPEP
MIPEP 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 285175
Gene Symbol: UNC80
UNC80 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 5373
Gene Symbol: PMM2
PMM2 		0.100 GeneticVariation disease CLINVAR