CRYBA4, crystallin beta A4, 1413

N. diseases: 20; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3808012
Disease: CATARACT 23, MULTIPLE TYPES
CATARACT 23, MULTIPLE TYPES 		0.700 Biomarker disease GENOMICS_ENGLAND A missense mutation in CRYBA4 associated with congenital cataract and microcornea. 20577656 2010
CUI: C3808012
Disease: CATARACT 23, MULTIPLE TYPES
CATARACT 23, MULTIPLE TYPES 		0.700 GeneticVariation disease UNIPROT A missense mutation in CRYBA4 associated with congenital cataract and microcornea. 20577656 2010
CUI: C3808012
Disease: CATARACT 23, MULTIPLE TYPES
CATARACT 23, MULTIPLE TYPES 		0.700 Biomarker disease GENOMICS_ENGLAND CRYBA4, a novel human cataract gene, is also involved in microphthalmia. 16960806 2006
CUI: C3808012
Disease: CATARACT 23, MULTIPLE TYPES
CATARACT 23, MULTIPLE TYPES 		0.700 GeneticVariation disease UNIPROT CRYBA4, a novel human cataract gene, is also involved in microphthalmia. 16960806 2006
CUI: C3808012
Disease: CATARACT 23, MULTIPLE TYPES
CATARACT 23, MULTIPLE TYPES 		0.700 Biomarker disease CTD_human
CUI: C3808012
Disease: CATARACT 23, MULTIPLE TYPES
CATARACT 23, MULTIPLE TYPES 		0.700 CausalMutation disease CLINVAR
CUI: C1861829
Disease: Cataract microcornea syndrome
Cataract microcornea syndrome 		0.300 GermlineCausalMutation disease ORPHANET A missense mutation in CRYBA4 associated with congenital cataract and microcornea. 20577656 2010
CUI: C0029531
Disease: Other cataract
Other cataract 		0.200 Biomarker disease RGD Crystallin proteins in lenses of hereditary cataractous rat, ICRf. 10726880 2000
CUI: C0086543
Disease: Cataract
Cataract 		0.140 Biomarker disease BEFREE It expands the mutation spectrum of CRYBA4 and provides useful information to the study of molecular pathogenesis of cataract and microcornea. 20577656 2010
CUI: C0086543
Disease: Cataract
Cataract 		0.140 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
CUI: C0086543
Disease: Cataract
Cataract 		0.140 Biomarker disease BEFREE To date, CRYBA4 was the only gene in this cluster not associated with either human or murine cataracts. 16960806 2006
CUI: C0086543
Disease: Cataract
Cataract 		0.140 GeneticVariation disease BEFREE Sequencing failed to detect any nucleotide changes in CRYBA4; however, a G-->T transversion in exon 6 of CRYBB1 was found to cosegregate with cataract in the family. 12360425 2002
CUI: C0086543
Disease: Cataract
Cataract 		0.140 Biomarker disease HPO
CUI: C0266544
Disease: Microcornea
Microcornea 		0.110 Biomarker disease BEFREE It expands the mutation spectrum of CRYBA4 and provides useful information to the study of molecular pathogenesis of cataract and microcornea. 20577656 2010
CUI: C0266544
Disease: Microcornea
Microcornea 		0.110 Biomarker disease HPO
CUI: C0010036
Disease: Corneal dystrophy
Corneal dystrophy 		0.100 Biomarker disease HPO
CUI: C0010038
Disease: Corneal Opacity
Corneal Opacity 		0.100 Biomarker phenotype HPO
CUI: C0027092
Disease: Myopia
Myopia 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		0.100 Biomarker disease HPO
CUI: C0266537
Disease: Congenital lamellar cataract
Congenital lamellar cataract 		0.100 Biomarker disease HPO
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		0.100 Biomarker disease HPO
CUI: C1861821
Disease: CATARACT, MARNER TYPE
CATARACT, MARNER TYPE 		0.100 Biomarker disease HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		0.100 Biomarker phenotype HPO