Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5881
Gene Symbol: RAC3
RAC3 		0.400 Biomarker phenotype GENOMICS_ENGLAND De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. 30293988 2019
Entrez Id: 5881
Gene Symbol: RAC3
RAC3 		0.400 GeneticVariation phenotype CLINVAR
Entrez Id: 93210
Gene Symbol: PGAP3
PGAP3 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype CLINVAR Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease. 28905880 2017
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4 		0.100 GeneticVariation phenotype 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 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype 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 		0.100 GeneticVariation phenotype 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 		0.100 CausalMutation phenotype CLINVAR Mutations in RARS cause hypomyelination. 24777941 2014
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.100 CausalMutation phenotype CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		0.100 CausalMutation phenotype CLINVAR CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study. 24884629 2014
Entrez Id: 57465
Gene Symbol: TBC1D24
TBC1D24 		0.100 CausalMutation phenotype CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
Entrez Id: 54982
Gene Symbol: CLN6
CLN6 		0.100 CausalMutation phenotype CLINVAR CLN6 disease caused by the same mutation originating in Pakistan has varying pathology. 23735787 2013
Entrez Id: 5660
Gene Symbol: PSAP
PSAP 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype 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 		0.100 CausalMutation phenotype CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207 2007
Entrez Id: 23236
Gene Symbol: PLCB1
PLCB1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9839
Gene Symbol: ZEB2
ZEB2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2975
Gene Symbol: GTF3C1
GTF3C1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 259266
Gene Symbol: ASPM
ASPM 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 64852
Gene Symbol: TUT1
TUT1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7436
Gene Symbol: VLDLR
VLDLR 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2581
Gene Symbol: GALC
GALC 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 8558
Gene Symbol: CDK10
CDK10 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1 		0.100 GeneticVariation phenotype CLINVAR