Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2892
Gene Symbol: GRIA3
GRIA3 		0.100 GeneticVariation disease CLINVAR A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability. 29016847 2017
Entrez Id: 816
Gene Symbol: CAMK2B
CAMK2B 		0.100 CausalMutation disease CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 4210
Gene Symbol: MEFV
MEFV 		0.100 CausalMutation disease CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 CausalMutation disease CLINVAR
Entrez Id: 5859
Gene Symbol: QARS1
QARS1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 CausalMutation disease CLINVAR
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		0.100 CausalMutation disease CLINVAR
Entrez Id: 53335
Gene Symbol: BCL11A
BCL11A 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A 		0.100 CausalMutation disease CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 CausalMutation disease CLINVAR
Entrez Id: 112939
Gene Symbol: NACC1
NACC1 		0.100 CausalMutation disease CLINVAR