DisGeNET - a database of gene-disease associations

rs28936700, CYP1B1;CYP1B1-AS1

N. diseases: 9

Disease: Glaucoma of childhood ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Glaucoma of childhood

CUI:	C2981140
Disease:	Glaucoma of childhood

0.010

GeneticVariation

BEFREE

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.

2011