Disease: Cataract microcornea syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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