Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1 		0.430 Biomarker disease HPO
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.430 Biomarker disease HPO
Entrez Id: 1139
Gene Symbol: CHRNA7
CHRNA7 		0.430 Biomarker disease HPO
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		0.430 GeneticVariation disease CLINVAR
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		0.430 Biomarker disease HPO
Entrez Id: 221037
Gene Symbol: JMJD1C
JMJD1C 		0.420 Biomarker disease HPO
Entrez Id: 3458
Gene Symbol: IFNG
IFNG 		0.420 Biomarker disease HPO
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN 		0.410 Biomarker disease CTD_human
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.410 CausalMutation disease CLINVAR
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN 		0.410 Biomarker disease HPO
Entrez Id: 4915
Gene Symbol: NTRK2
NTRK2 		0.410 Biomarker disease HPO
Entrez Id: 1806
Gene Symbol: DPYD
DPYD 		0.400 Biomarker disease HPO
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.400 Biomarker disease HPO
Entrez Id: 1977
Gene Symbol: EIF4E
EIF4E 		0.320 Biomarker disease CTD_human
Entrez Id: 9379
Gene Symbol: NRXN2
NRXN2 		0.320 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		0.200 GeneticVariation disease CLINVAR
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		0.200 Biomarker disease HPO
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		0.180 CausalMutation disease CLINVAR
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		0.180 GeneticVariation disease CLINVAR
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.150 CausalMutation disease CLINVAR
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.150 GeneticVariation disease CLINVAR
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5 		0.140 CausalMutation disease CLINVAR
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		0.130 Biomarker disease HPO
Entrez Id: 412
Gene Symbol: STS
STS 		0.130 Biomarker disease HPO
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.130 Biomarker disease HPO