Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		0.100 CausalMutation disease CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
Entrez Id: 8216
Gene Symbol: LZTR1
LZTR1 		0.100 CausalMutation disease CLINVAR Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. 29469822 2018
Entrez Id: 815
Gene Symbol: CAMK2A
CAMK2A 		0.100 GeneticVariation disease CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
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: 815
Gene Symbol: CAMK2A
CAMK2A 		0.100 CausalMutation disease CLINVAR De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. 29100089 2017
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 CausalMutation disease CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Entrez Id: 80208
Gene Symbol: SPG11
SPG11 		0.100 CausalMutation disease CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956 2009
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.100 CausalMutation disease CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518 2008
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.100 CausalMutation disease CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759 2004
Entrez Id: 171023
Gene Symbol: ASXL1
ASXL1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 25839
Gene Symbol: COG4
COG4 		0.100 CausalMutation disease CLINVAR
Entrez Id: 6872
Gene Symbol: TAF1
TAF1 		0.100 Biomarker disease HPO
Entrez Id: 7319
Gene Symbol: UBE2A
UBE2A 		0.100 Biomarker disease HPO
Entrez Id: 7138
Gene Symbol: TNNT1
TNNT1 		0.100 Biomarker disease HPO
Entrez Id: 1145
Gene Symbol: CHRNE
CHRNE 		0.100 Biomarker disease HPO
Entrez Id: 1302
Gene Symbol: COL11A2
COL11A2 		0.100 Biomarker disease HPO
Entrez Id: 28982
Gene Symbol: FLVCR1
FLVCR1 		0.100 Biomarker disease HPO
Entrez Id: 7084
Gene Symbol: TK2
TK2 		0.100 Biomarker disease HPO
Entrez Id: 1186
Gene Symbol: CLCN7
CLCN7 		0.100 Biomarker disease HPO
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3 		0.100 Biomarker disease HPO
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1 		0.100 Biomarker disease HPO
Entrez Id: 339855
Gene Symbol: KY
KY 		0.100 Biomarker disease HPO
Entrez Id: 1737
Gene Symbol: DLAT
DLAT 		0.100 Biomarker disease HPO