Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 64324
Gene Symbol: NSD1
NSD1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 54084
Gene Symbol: TSPEAR
TSPEAR
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation 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
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
Entrez Id: 7701
Gene Symbol: ZNF142
ZNF142
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation 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
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy. 27872899

2016
Entrez Id: 29911
Gene Symbol: HOOK2
HOOK2
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 9126
Gene Symbol: SMC3
SMC3
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 7173
Gene Symbol: TPO
TPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 22983
Gene Symbol: MAST1
MAST1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 86
Gene Symbol: ACTL6A
ACTL6A
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR

Entrez Id: 54082
Gene Symbol: TSPEAR-AS1
TSPEAR-AS1
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 GeneticVariation CLINVAR Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis. 27736875

2016