Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		0.100 CausalMutation disease CLINVAR Novel (ovario) leukodystrophy related to AARS2 mutations. 24808023 2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		0.100 CausalMutation disease CLINVAR Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. 21549344 2011
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		0.100 CausalMutation disease CLINVAR Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. 22277967 2012
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		0.100 CausalMutation disease CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219 2014
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		0.100 GeneticVariation disease CLINVAR Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116 2012
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		0.100 GeneticVariation disease CLINVAR Cantú syndrome is caused by mutations in ABCC9. 22608503 2012
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		0.100 GeneticVariation disease CLINVAR KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 17245405 2007
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		0.100 GeneticVariation disease CLINVAR Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. 16835932 2006
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		0.100 GeneticVariation disease CLINVAR Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. 21344641 2011
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		0.100 GeneticVariation disease CLINVAR Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 10398267 1999
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		0.100 GeneticVariation disease CLINVAR ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580 2004
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		0.100 GeneticVariation disease CLINVAR Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 23307537 2013
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.100 GeneticVariation disease CLINVAR Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations. 27870580 2017
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.100 GeneticVariation disease CLINVAR Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients. 21948754 2011
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.100 GeneticVariation disease CLINVAR A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. 16080123 2005
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.100 GeneticVariation disease CLINVAR Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants. 17317784 2007
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.100 GeneticVariation disease CLINVAR Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen. 1978986 1990
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.100 GeneticVariation disease CLINVAR A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. 20137779 2010
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.100 GeneticVariation disease CLINVAR Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. 24762113 2014
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.100 GeneticVariation disease CLINVAR Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature. 18226555 2008
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.100 GeneticVariation disease CLINVAR A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. 19110214 2009
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.100 GeneticVariation disease CLINVAR Osteoarthritis of the hands, hips and knees in an Australian twin sample--evidence of association with the aggrecan VNTR polymorphism. 12626230 2003
Entrez Id: 176
Gene Symbol: ACAN
ACAN 		0.100 GeneticVariation disease CLINVAR Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene. 12205105 2002
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 CausalMutation disease CLINVAR Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 11333380 2001
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1 		0.100 CausalMutation disease CLINVAR Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 19562689 2009