×
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
Dysmorphic features
0.100
CausalMutation
CLINVAR
Novel (ovario) leukodystrophy related to AARS2 mutations.
24808023 2014
×
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
Dysmorphic features
0.100
CausalMutation
CLINVAR
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
21549344 2011
×
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
Dysmorphic features
0.100
CausalMutation
CLINVAR
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
22277967 2012
×
Entrez Id: 57505
Gene Symbol: AARS2
AARS2
Dysmorphic features
0.100
CausalMutation
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
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Dominant missense mutations in ABCC9 cause Cantú syndrome.
22610116 2012
×
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Cantú syndrome is caused by mutations in ABCC9.
22608503 2012
×
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
Dysmorphic features
0.100
GeneticVariation
CLINVAR
KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.
17245405 2007
×
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
Dysmorphic features
0.100
GeneticVariation
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
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.
21344641 2011
×
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.
10398267 1999
×
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
Dysmorphic features
0.100
GeneticVariation
CLINVAR
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.
15034580 2004
×
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
Dysmorphic features
0.100
GeneticVariation
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
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.
27870580 2017
×
Entrez Id: 176
Gene Symbol: ACAN
ACAN
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients.
21948754 2011
×
Entrez Id: 176
Gene Symbol: ACAN
ACAN
Dysmorphic features
0.100
GeneticVariation
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
Dysmorphic features
0.100
GeneticVariation
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
Dysmorphic features
0.100
GeneticVariation
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
Dysmorphic features
0.100
GeneticVariation
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
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.
24762113 2014
×
Entrez Id: 176
Gene Symbol: ACAN
ACAN
Dysmorphic features
0.100
GeneticVariation
CLINVAR
Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature.
18226555 2008
×
Entrez Id: 176
Gene Symbol: ACAN
ACAN
Dysmorphic features
0.100
GeneticVariation
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
Dysmorphic features
0.100
GeneticVariation
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
Dysmorphic features
0.100
GeneticVariation
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
Dysmorphic features
0.100
CausalMutation
CLINVAR
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
11333380 2001
×
Entrez Id: 58
Gene Symbol: ACTA1
ACTA1
Dysmorphic features
0.100
CausalMutation
CLINVAR
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1).
19562689 2009