Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR 		0.100 GeneticVariation phenotype CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875 2016
Entrez Id: 2900
Gene Symbol: GRIK4
GRIK4 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2 		0.100 GeneticVariation phenotype CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638 2019
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142 		0.100 GeneticVariation phenotype CLINVAR Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. 31036918 2019
Entrez Id: 2257
Gene Symbol: FGF12
FGF12 		0.100 GeneticVariation phenotype CLINVAR De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899 2016
Entrez Id: 29911
Gene Symbol: HOOK2
HOOK2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9126
Gene Symbol: SMC3
SMC3 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7173
Gene Symbol: TPO
TPO 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 22983
Gene Symbol: MAST1
MAST1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 867
Gene Symbol: CBL
CBL 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1 		0.100 GeneticVariation phenotype CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875 2016