GlyCosmos Portal

cataract 3 multiple types

Synonym

Definition

A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11.

Super Class

autosomal dominant disease cataract

Disease Ontology

DOID:0110269

Mondo Disease Ontology

OMIM

MGI genotype (from TogoID)

Related Genes

Displaying entries **11 - 13** of 13 in total

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Gene ID	Gene Symbol	Description	Source
51084	CRYL1	crystallin lambda 1	DisGeNET
51763	INPP5K	inositol polyphosphate-5-phosphatase K	DisGeNET
55750	AGK	acylglycerol kinase	DisGeNET

Related Glycoprotein

Displaying **all 10** entries
UniProt ID	Protein Name	Source
O00400	Acetyl-coenzyme A transporter 1	DisGeNET
P48449	Lanosterol synthase	DisGeNET
P49419	Alpha-aminoadipic semialdehyde dehydrogenase	DisGeNET
P51570	Galactokinase	DisGeNET
P60484	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	DisGeNET
P78333	Glypican-5	DisGeNET
Q00796	Sorbitol dehydrogenase	DisGeNET
Q01968	Inositol polyphosphate 5-phosphatase OCRL	DisGeNET
Q8N0V5	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase	DisGeNET
Q9Y2S2	Lambda-crystallin homolog	DisGeNET