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: 93210
Gene Symbol: PGAP3
PGAP3
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. 28390064

2018
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 a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. 28905880

2017
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR FBXL4 defects are common in patients with congenital lactic acidemia and encephalomyopathic mitochondrial DNA depletion syndrome. 27743463

2017
Entrez Id: 29920
Gene Symbol: PYCR2
PYCR2
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy. 27860360

2017
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome. 27120253

2016
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: 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: 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: 8481
Gene Symbol: OFD1
OFD1
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 24884629

2014
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220

2014
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: 5660
Gene Symbol: PSAP
PSAP
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation CLINVAR Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature. 19955343

2009
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: 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: 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: 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: 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: 54880
Gene Symbol: BCOR
BCOR
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 GeneticVariation CLINVAR