Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4935
Gene Symbol: GPR143
GPR143 		0.440 GeneticVariation disease CLINVAR
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		0.400 CausalMutation disease CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		0.140 GeneticVariation disease CLINVAR
Entrez Id: 8573
Gene Symbol: CASK
CASK 		0.140 GeneticVariation disease CLINVAR
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 576
Gene Symbol: ADGRB2
ADGRB2 		0.100 GeneticVariation disease CLINVAR A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. 28891236 2017
Entrez Id: 2782
Gene Symbol: GNB1
GNB1 		0.100 CausalMutation disease CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799 2016
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		0.100 CausalMutation disease CLINVAR SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. 26626314 2016
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation disease CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204 2015
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B 		0.100 GeneticVariation disease CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A 		0.100 GeneticVariation disease CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B 		0.100 GeneticVariation disease CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 CausalMutation disease CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309 2012
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.100 CausalMutation disease CLINVAR Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.100 CausalMutation disease CLINVAR Germline gain-of-function mutations in RAF1 cause Noonan syndrome. 17603482 2007
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		0.100 CausalMutation disease CLINVAR
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 339400
Gene Symbol: FLG-AS1
FLG-AS1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 84295
Gene Symbol: PHF6
PHF6 		0.100 CausalMutation disease CLINVAR
Entrez Id: 1186
Gene Symbol: CLCN7
CLCN7 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 26610
Gene Symbol: ELP4
ELP4 		0.100 GeneticVariation disease CLINVAR