Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79841
Gene Symbol: AGBL2
AGBL2
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 224
Gene Symbol: ALDH3A2
ALDH3A2
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR

Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 288
Gene Symbol: ANK3
ANK3
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 10717
Gene Symbol: AP4B1
AP4B1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 100287722
Gene Symbol: AP4B1-AS1
AP4B1-AS1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 57584
Gene Symbol: ARHGAP21
ARHGAP21
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 259266
Gene Symbol: ASPM
ASPM
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR

Entrez Id: 460
Gene Symbol: ASTN1
ASTN1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 129880
Gene Symbol: BBS5
BBS5
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR

Entrez Id: 8912
Gene Symbol: CACNA1H
CACNA1H
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR

Entrez Id: 1002
Gene Symbol: CDH4
CDH4
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 8558
Gene Symbol: CDK10
CDK10
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 8099
Gene Symbol: CDK2AP1
CDK2AP1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 50937
Gene Symbol: CDON
CDON
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 55636
Gene Symbol: CHD7
CHD7
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR

Entrez Id: 54982
Gene Symbol: CLN6
CLN6
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. 23735787

2013
Entrez Id: 54982
Gene Symbol: CLN6
CLN6
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR