Entity Details

Primary name CHRDL1
Entity type gene
Source Source Link

Details

PrimaryID91851
RefseqGeneNG_012816
SymbolCHRDL1
Namechordin like 1
ChromosomeX
LocationXq23
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-07-12
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCRDL1_HUMAN

GO terms

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GOName
GO:0001503 ossification
GO:0001654 eye development
GO:0005576 extracellular region
GO:0005788 endoplasmic reticulum lumen
GO:0007399 nervous system development
GO:0030154 cell differentiation
GO:0038098 sequestering of BMP from receptor via BMP binding
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process

Diseases

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Disease IDSourceNameDescription
309300 OMIMMegalocornea 1, X-linked (MGC1)An eye disorder in which the corneal diameter is bilaterally enlarged (greater than 13 mm) without an increase in intraocular pressure. It may also be referred to as anterior megalophthalmos, since the entire anterior segment is larger than normal. Features of megalocornea in addition to a deep anterior chamber include astigmatic refractive errors, atrophy of the iris stroma, miosis secondary to decreased function of the dilator muscle, iridodonesis, and tremulousness, subluxation, or dislocation of the lens. Whereas most affected individuals exhibit normal ocular function, complications include cataract development and glaucoma following lenticular dislocation or subluxation. The disease is caused by variants affecting the gene represented in this entry.

Interactions

11 interactions