Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5881
Gene Symbol: RAC3
RAC3
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.400 GeneticVariation CLINVAR

Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 2975
Gene Symbol: GTF3C1
GTF3C1
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: 10585
Gene Symbol: POMT1
POMT1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207

2007
Entrez Id: 64852
Gene Symbol: TUT1
TUT1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 5917
Gene Symbol: RARS1
RARS1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR Mutations in RARS cause hypomyelination. 24777941

2014
Entrez Id: 2581
Gene Symbol: GALC
GALC
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: 501
Gene Symbol: ALDH7A1
ALDH7A1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651

2014
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 84915
Gene Symbol: FAM222A
FAM222A
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations. 25868664

2015
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 79648
Gene Symbol: MCPH1
MCPH1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 23426
Gene Symbol: GRIP1
GRIP1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR

Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation 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: 26050
Gene Symbol: SLITRK5
SLITRK5
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: 8481
Gene Symbol: OFD1
OFD1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. 18546297

2008
Entrez Id: 998
Gene Symbol: CDC42
CDC42
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR