Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs981267400
rs981267400
DNAH5
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Lateralization defects and ciliary dyskinesia: lessons from algae. 12615011

2003
dbSNP: rs981267400
rs981267400
DNAH5
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013
dbSNP: rs981267400
rs981267400
DNAH5
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006
dbSNP: rs981267400
rs981267400
DNAH5
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 11788826

2002
dbSNP: rs981267400
rs981267400
DNAH5
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs981267400
rs981267400
DNAH5
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009
dbSNP: rs926748713
rs926748713
TRMU
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Reversible infantile mitochondrial diseases. 25407320

2015
dbSNP: rs926748713
rs926748713
TRMU
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Acute infantile liver failure due to mutations in the TRMU gene. 19732863

2009
dbSNP: rs926748713
rs926748713
TRMU
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. 25058219

2014
dbSNP: rs926748713
rs926748713
TRMU
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases. 23625533

2013
dbSNP: rs926748713
rs926748713
TRMU
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations? 25665837

2015
dbSNP: rs926748713
rs926748713
TRMU
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease. 21931168

2011
dbSNP: rs926748713
rs926748713
TRMU
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 GeneticVariation CLINVAR Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations. 21153446

2011
dbSNP: rs917027829
rs917027829
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Biology and action of colony--stimulating factor-1. 8981357

1997
dbSNP: rs917027829
rs917027829
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? 19487654

2009
dbSNP: rs917027829
rs917027829
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function. 24145216

2013
dbSNP: rs917027829
rs917027829
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Hereditary diffuse leucoencephalopathy with spheroids. 6595937

1984
dbSNP: rs917027829
rs917027829
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. 24336230

2014
dbSNP: rs917027829
rs917027829
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. 23816250

2013
dbSNP: rs917027829
rs917027829
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR MRI characteristics and scoring in HDLS due to CSF1R gene mutations. 22843259

2012
dbSNP: rs917027829
rs917027829
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. 22197934

2011
dbSNP: rs917027829
rs917027829
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR CSF1R mutations link POLD and HDLS as a single disease entity. 23408870

2013
dbSNP: rs917027829
rs917027829
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Update of the original HDLS kindred: divergent clinical courses. 22098561

2012
dbSNP: rs917027829
rs917027829
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R. 23411710

2013
dbSNP: rs917027829
rs917027829
CSF1R
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. 23649896

2013