Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 1302
Gene Symbol: COL11A2
COL11A2 		0.100 Biomarker disease HPO
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: 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
Entrez Id: 85465
Gene Symbol: SELENOI
SELENOI 		0.100 Biomarker disease HPO
Entrez Id: 57215
Gene Symbol: THAP11
THAP11 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 4841
Gene Symbol: NONO
NONO 		0.100 Biomarker disease HPO
Entrez Id: 271
Gene Symbol: AMPD2
AMPD2 		0.100 Biomarker disease HPO
Entrez Id: 5261
Gene Symbol: PHKG2
PHKG2 		0.100 Biomarker disease HPO
Entrez Id: 1140
Gene Symbol: CHRNB1
CHRNB1 		0.100 Biomarker disease HPO
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