Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1501
Gene Symbol: CTNND2
CTNND2 		0.100 GeneticVariation group CLINVAR δ-Catenin (CTNND2) missense mutation in familial cortical myoclonic tremor and epilepsy. 29127138 2017
Entrez Id: 11152
Gene Symbol: WDR45
WDR45 		0.100 CausalMutation group CLINVAR β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. 23687123 2013
Entrez Id: 6651
Gene Symbol: SON
SON 		0.100 GeneticVariation group CLINVAR [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells]. 1944255 1991
Entrez Id: 6651
Gene Symbol: SON
SON 		0.100 CausalMutation group CLINVAR [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells]. 1944255 1991
Entrez Id: 6651
Gene Symbol: SON
SON 		0.100 CausalMutation group CLINVAR [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins]. 3054499 1988
Entrez Id: 6651
Gene Symbol: SON
SON 		0.100 GeneticVariation group CLINVAR [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins]. 3054499 1988
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.100 CausalMutation group CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861 1971
Entrez Id: 23389
Gene Symbol: MED13L
MED13L 		0.100 GeneticVariation group CLINVAR [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis]. 5167861 1971
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A 		0.100 CausalMutation group CLINVAR [A report of atypical hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum caused by a de novo mutation in tubulin beta 4A (TUBB4A) gene and literature review]. 28592043 2017
Entrez Id: 10472
Gene Symbol: ZBTB18
ZBTB18 		0.100 GeneticVariation group CLINVAR Zinc finger proteins: new insights into structural and functional diversity. 11179890 2001
Entrez Id: 139411
Gene Symbol: PTCHD1
PTCHD1 		0.100 CausalMutation group CLINVAR XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. 23871722 2013
Entrez Id: 2074
Gene Symbol: ERCC6
ERCC6 		0.100 CausalMutation group CLINVAR Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. 1372469 1992
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4 		0.100 GeneticVariation group CLINVAR X-ray structure, symmetry and mechanism of an AMPA-subtype glutamate receptor. 19946266 2009
Entrez Id: 8450
Gene Symbol: CUL4B
CUL4B 		0.100 CausalMutation group CLINVAR X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression. 21816345 2011
Entrez Id: 6872
Gene Symbol: TAF1
TAF1 		0.020 GeneticVariation group BEFREE X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE-VNTR-Alu (SVA) retrotransposon insertion in TAF1. 30973967 2019
Entrez Id: 8243
Gene Symbol: SMC1A
SMC1A 		0.100 GeneticVariation group CLINVAR X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. 16604071 2006
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		0.100 CausalMutation group CLINVAR X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. 1415255 1992
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.110 GeneticVariation group CLINVAR X-inactivation profile reveals extensive variability in X-linked gene expression in females. 15772666 2005
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.110 CausalMutation group CLINVAR X-inactivation profile reveals extensive variability in X-linked gene expression in females. 15772666 2005
Entrez Id: 1741
Gene Symbol: DLG3
DLG3 		0.100 CausalMutation group CLINVAR X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 24721225 2014
Entrez Id: 2893
Gene Symbol: GRIA4
GRIA4 		0.100 GeneticVariation group CLINVAR X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. 24721225 2014
Entrez Id: 546
Gene Symbol: ATRX
ATRX 		0.100 CausalMutation group CLINVAR X linked mental retardation: a clinical guide. 16118346 2006
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 CausalMutation group CLINVAR Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis. 15866164 2005
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 CausalMutation group CLINVAR Wnt/beta-catenin pathway. 15713948 2005
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 CausalMutation group CLINVAR Wnt/β-catenin signaling and disease. 22682243 2012