GlyCosmos Portal

cataract 4 multiple types

Synonym

Definition

A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33.

Super Class

autosomal dominant disease cataract

Disease Ontology

DOID:0110234

Mondo Disease Ontology

OMIM

MGI genotype (from TogoID)

Related Genes

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Gene ID	Gene Symbol	Description	Source
501	ALDH7A1	aldehyde dehydrogenase 7 family member A1	DisGeNET
1374	CPT1A	carnitine palmitoyltransferase 1A	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
3417	IDH1	isocitrate dehydrogenase (NADP(+)) 1	DisGeNET
3956	LGALS1	galectin 1	DisGeNET
4047	LSS	lanosterol synthase	DisGeNET
4952	OCRL	OCRL inositol polyphosphate-5-phosphatase	DisGeNET

Related Glycoprotein

Displaying entries **1 - 10** of 15 in total

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UniProt ID	Protein Name	Source
O00400	Acetyl-coenzyme A transporter 1	DisGeNET
O14521	Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial	DisGeNET
O75874	Isocitrate dehydrogenase [NADP] cytoplasmic	DisGeNET
P09382	Galectin-1	DisGeNET
P21912	Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial	DisGeNET
P48449	Lanosterol synthase	DisGeNET
P49419	Alpha-aminoadipic semialdehyde dehydrogenase	DisGeNET
P50416	Carnitine O-palmitoyltransferase 1, liver isoform	DisGeNET
P51570	Galactokinase	DisGeNET
P60484	Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN	DisGeNET