GlyCosmos Portal

cataract 17 multiple types

Synonym

Definition

A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12.

Super Class

autosomal dominant disease autosomal recessive disease cataract

Disease Ontology

DOID:0110270

Mondo Disease Ontology

OMIM

Related Genes

Displaying entries **1 - 10** of 13 in total

1

2

Next ›

Last »
Gene ID	Gene Symbol	Description	Source
501	ALDH7A1	aldehyde dehydrogenase 7 family member A1	DisGeNET
1593	CYP27A1	cytochrome P450 family 27 subfamily A member 1	DisGeNET
2262	GPC5	glypican 5	DisGeNET
2584	GALK1	galactokinase 1	DisGeNET
2651	GCNT2	glucosaminyl (N-acetyl) transferase 2 (I blood group)	DisGeNET
4047	LSS	lanosterol synthase	DisGeNET
4952	OCRL	OCRL inositol polyphosphate-5-phosphatase	DisGeNET
5728	PTEN	phosphatase and tensin homolog	DisGeNET
6652	SORD	sorbitol dehydrogenase	DisGeNET
9197	SLC33A1	solute carrier family 33 member 1	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