Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 104472715
Gene Symbol: SNHG14
SNHG14
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 CausalMutation CLINVAR

Entrez Id: 7337
Gene Symbol: UBE3A
UBE3A
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 CausalMutation CLINVAR

Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 CausalMutation CLINVAR

Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 CausalMutation CLINVAR

Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 CausalMutation CLINVAR

Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 CausalMutation CLINVAR

Entrez Id: 2902
Gene Symbol: GRIN1
GRIN1
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 CausalMutation CLINVAR

Entrez Id: 79876
Gene Symbol: UBA5
UBA5
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 7874
Gene Symbol: USP7
USP7
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0454641
Disease: Expressive language delay
Expressive language delay 		0.100 GeneticVariation CLINVAR