GlyCosmos Portal

cataract 30

Synonym

Definition

A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13.

Super Class

autosomal dominant disease cataract

Disease Ontology

DOID:0110248

Mondo Disease Ontology

ORDO

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
1593	CYP27A1	cytochrome P450 family 27 subfamily A member 1	DisGeNET 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
5290	PIK3CA	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	DisGeNET
5291	PIK3CB	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta	DisGeNET
5293	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	DisGeNET

Related Glycoprotein

Displaying entries **1 - 10** of 14 in total

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UniProt ID	Protein Name	Source
O00329	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	DisGeNET
O00400	Acetyl-coenzyme A transporter 1	DisGeNET
P42338	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	DisGeNET
P48449	Lanosterol synthase	DisGeNET
P48736	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	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