| Disease | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.040 | GeneticVariation | disease | BEFREE | We observed that the four patients with CRYBB3 mutations had three different cataract phenotypes. | 27307692 | 2016 | ||||
|
0.040 | GeneticVariation | disease | BEFREE | We also tested some polymorphic markers; two (GJA8, CRYBB3) were significantly associated with cataracts. | 21873656 | 2011 | ||||
|
0.040 | GeneticVariation | disease | BEFREE | Linkage was excluded for the known cataract candidate gene loci at 1p34-36, 1q21-25 (gap junction protein, alpha 8 [GJA8]), 2q33-36 (crystallin, gamma A [CRYGA], crystallin, gamma B [CRYGB], crystallin, gamma C [CRYGC], crystallin, gamma D [CRYGD], crystallin, beta A2 [CRYBA2]), 3q21-22 (beaded filament structural protein 2, phakinin [BFSP2]), 12q12-14 (aquaporin 0 [AQP0]), 13q11-13 (gap junction protein, alpha 3 [GJA3]), 15q21-22, 16q22-23 (v-maf musculoaponeurotic fibrosarcoma oncogene homolog [MAF], heat shock transcription factor 4 [HSF4]), 17q11-12 (crystallin, beta A1 [CRYBA1]), 17q24, 21q22.3 (crystallin, alpha A [CRYAA]), and 22q11.2 (crystallin, beta B1 [CRYBB1], crystallin, beta B2 [CRYBB2], crystallin, beta B3 [CRYBB3], crystallin, beta A4 [CRYBA4]). | 19262743 | 2009 | ||||
|
0.040 | GeneticVariation | disease | LHGDN | Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. | 15914629 | 2005 |