Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.120 CausalMutation CLINVAR

Entrez Id: 6942
Gene Symbol: TCF20
TCF20
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.110 CausalMutation CLINVAR

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation CLINVAR

Entrez Id: 203068
Gene Symbol: TUBB
TUBB
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 8831
Gene Symbol: SYNGAP1
SYNGAP1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 10585
Gene Symbol: POMT1
POMT1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 23299
Gene Symbol: BICD2
BICD2
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation CLINVAR

Entrez Id: 867
Gene Symbol: CBL
CBL
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation CLINVAR

Entrez Id: 1644
Gene Symbol: DDC
DDC
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation CLINVAR

Entrez Id: 6595
Gene Symbol: SMARCA2
SMARCA2
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation CLINVAR

Entrez Id: 25792
Gene Symbol: CIZ1
CIZ1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 101929680
Gene Symbol: SCN1A-AS1
SCN1A-AS1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 9024
Gene Symbol: BRSK2
BRSK2
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation CLINVAR Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. 30879638

2019
Entrez Id: 123016
Gene Symbol: TTC8
TTC8
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation CLINVAR

Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189

2016
Entrez Id: 4286
Gene Symbol: MITF
MITF
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259

2011
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 22941
Gene Symbol: SHANK2
SHANK2
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability. 28794130

2017
Entrez Id: 10716
Gene Symbol: TBR1
TBR1
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation CLINVAR

Entrez Id: 49855
Gene Symbol: SCAPER
SCAPER
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation CLINVAR

Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 26960
Gene Symbol: NBEA
NBEA
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 GeneticVariation CLINVAR NBEA: Developmental disease gene with early generalized epilepsy phenotypes. 30269351

2018