Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family. 28149769

2017
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Human βA3/A1-crystallin splicing mutation causes cataracts by activating the unfolded protein response and inducing apoptosis in differentiating lens fiber cells. 26851658

2016
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR βA3/A1-crystallin: more than a lens protein. 25461968

2015
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Congenital cataracts due to a novel 2‑bp deletion in CRYBA1/A3. 24926697

2014
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR A recurrent mutation in CRYBA1 is associated with an autosomal dominant congenital nuclear cataract disease in a Chinese family. 21686330

2011
Entrez Id: 1411
Gene Symbol: CRYBA1
CRYBA1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Characterization of the G91del CRYBA1/3-crystallin protein: a cause of human inherited cataract. 15016766

2004