Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2238464
rs2238464
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0005612
Disease:
Birth Weight 		T 0.700 GeneticVariation GWASCAT Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors. 31043758 2019
dbSNP: rs17135889
rs17135889
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0006287
Disease:
Bronchopulmonary Dysplasia 		0.010 GeneticVariation BEFREE No significant correlation existed between the rs17135889 genotypes (AG/GG) and any clinical characteristic (e.g., oxygen supplementation duration and hospitalization, requirement for ventilation, bronchopulmonary dysplasia complications, and mortality rate). 26522252 2016
dbSNP: rs200090198
rs200090198
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1861829
Disease:
Cataract microcornea syndrome 		0.010 GeneticVariation BEFREE By sequencing the whole exome of three patients in a Chinese four-generation dominant CCMC family (Family A), three heterozygous missense mutation (c.115C>G, c.277G>A, and c.4393G>A) were identified in ATP-binding cassette protein A3 (ABCA3). 25406294 2014
dbSNP: rs201955122
rs201955122
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1861829
Disease:
Cataract microcornea syndrome 		0.010 GeneticVariation BEFREE By sequencing the whole exome of three patients in a Chinese four-generation dominant CCMC family (Family A), three heterozygous missense mutation (c.115C>G, c.277G>A, and c.4393G>A) were identified in ATP-binding cassette protein A3 (ABCA3). 25406294 2014
dbSNP: rs748819386
rs748819386
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1861829
Disease:
Cataract microcornea syndrome 		0.010 GeneticVariation BEFREE We further confirmed our finding by identifying another heterozygous missense mutation, c.2408C>T, in ABCA3 in an additional dominant CCMC family (Family B), which also cosegregated with the phenotype. 25406294 2014
dbSNP: rs13332514
rs13332514
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0746102
Disease:
Chronic lung disease 		0.010 GeneticVariation BEFREE Furthermore, rs13332514 associated significantly with chronic lung disease defined as a requirement for supplemental O2 at 28 postnatal days in very premature infants. 18246475 2008
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR Haplotype analysis of ABCA3: association with respiratory distress in very premature infants. 18246475 2008
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection. 22304854 2012
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. 23166334 2012
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants. 22800827 2012
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR Structural and dynamic aspects of Ca2+ and Mg2+ binding of the regulatory domains of the Na+/Ca2+ exchanger. 22435821 2012
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations. 24136335 2014
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR Population and disease-based prevalence of the common mutations associated with surfactant deficiency. 18317237 2008
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR ABCA3 mutations associated with pediatric interstitial lung disease. 15976379 2005
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR Cerebropulmonary dysgenetic syndrome. 18603241 2008
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. 25553246 2014
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations for infants and children with ABCA3 deficiency. 24871971 2014
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks). 25073622 2014
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR ATP-binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very-low-birth-weight infants. 22145626 2012
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. 17597647 2007
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals. 22866751 2012
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		A 0.700 GeneticVariation CLINVAR Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease. 18676873 2008
dbSNP: rs876657633
rs876657633
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		TGG 0.700 GeneticVariation CLINVAR Clinical, radiological and pathological features of ABCA3 mutations in children. 18024538 2008
dbSNP: rs876657633
rs876657633
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0085786
Disease:
Hamman-Rich syndrome 		TGG 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations for infants and children with ABCA3 deficiency. 24871971 2014
dbSNP: rs149989682
rs149989682
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C0206062
Disease:
Lung Diseases, Interstitial 		0.020 GeneticVariation BEFREE Term infants carrying the E292V missense mutation of the gene encoding ABCA3 are likely to develop respiratory distress syndrome, and the mutation has also been linked to interstitial lung disease in paediatric patients. 22145626 2012