CDON Chromosome 11
Cell adhesion associated, oncogene regulated
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What This Gene Does
This gene encodes a cell surface receptor that is a member of the immunoglobulin superfamily. The encoded protein contains three fibronectin type III domains and five immunoglobulin-like C2-type domains. This protein is a member of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells and positively regulates myogenesis. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
"Fibronectin type III domain containing|I-set domain containing"
Locus Type
gene with protein product
Location
11q24.2
Ensembl
ENSG00000064309
Associated Conditions (6)
Holoprosencephaly 11
Inborn genetic diseases
CDON-related disorder
Intellectual disability
Congenital ocular coloboma
Pituitary stalk interruption syndrome
Key Variants
RS114866803
Conflicting classifications of pathogenicity
Holoprosencephaly 11, Holoprosencephaly 11
Health Risk
RS140542787
Conflicting classifications of pathogenicity
Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11
Health Risk
RS140975280
Conflicting classifications of pathogenicity
Holoprosencephaly 11, Inborn genetic diseases, CDON-related disorder
Health Risk
RS141081456
Conflicting classifications of pathogenicity
Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11
Health Risk
RS141970313
Conflicting classifications of pathogenicity
Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11
Health Risk
RS144054280
Conflicting classifications of pathogenicity
Holoprosencephaly 11, Holoprosencephaly 11
Health Risk
RS144938780
Conflicting classifications of pathogenicity
Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11
Health Risk
RS146002530
Conflicting classifications of pathogenicity
Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11
Health Risk
RS146413034
Conflicting classifications of pathogenicity
Holoprosencephaly 11, Holoprosencephaly 11
Health Risk
RS148081735
Conflicting classifications of pathogenicity
Inborn genetic diseases, Holoprosencephaly 11, Inborn genetic diseases
Health Risk
RS148304849
Conflicting classifications of pathogenicity
Holoprosencephaly 11, Intellectual disability, Holoprosencephaly 11
Health Risk
RS150974313
Conflicting classifications of pathogenicity
Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11
Health Risk
All Variants (37)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114866803 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Holoprosencephaly 11 |
| RS140542787 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS140975280 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, CDON-related disorder |
| RS141081456 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS141970313 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS144054280 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Holoprosencephaly 11 |
| RS144938780 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS146002530 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS146413034 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Holoprosencephaly 11 |
| RS148081735 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Holoprosencephaly 11, Inborn genetic diseases |
| RS148304849 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Intellectual disability, Holoprosencephaly 11 |
| RS150974313 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS181749265 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Holoprosencephaly 11 |
| RS199762166 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS199957528 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS200042535 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS200614048 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, CDON-related disorder, Holoprosencephaly 11 |
| RS200967203 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Holoprosencephaly 11 |
| RS377281257 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Holoprosencephaly 11, Inborn genetic diseases |
| RS377604853 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS747965171 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS751093304 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS752818698 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Holoprosencephaly 11 |
| RS756054017 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS756455658 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Holoprosencephaly 11, Inborn genetic diseases |
| RS768131084 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Holoprosencephaly 11 |
| RS770564593 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS771268293 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, CDON-related disorder |
| RS771518021 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS773419494 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS776289358 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Inborn genetic diseases, Holoprosencephaly 11 |
| RS780575399 | Health Risk | Conflicting classifications of pathogenicity | Holoprosencephaly 11, Holoprosencephaly 11 |
| RS387906995 | Health Risk | Likely pathogenic | Holoprosencephaly 11, Holoprosencephaly 11 |
| RS767611891 | Health Risk | Likely pathogenic | Congenital ocular coloboma, Congenital ocular coloboma |
| RS387906996 | Health Risk | Pathogenic | Holoprosencephaly 11, Holoprosencephaly 11 |
| RS387906997 | Health Risk | Pathogenic | Holoprosencephaly 11, Holoprosencephaly 11 |
| RS769676286 | Health Risk | Pathogenic | Pituitary stalk interruption syndrome, Pituitary stalk interruption syndrome |