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C1GALT1C1

C1GALT1 specific chaperone 1

HCNC Approved Symbol
C1GALT1C1 (HGNC:24338)
Genomic Coordinates
23:120,625,674 - 120,630,054 (Xq24)
Synonyms
COSMC, C1GALT2
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
301110X-linked recessive
Tn polyagglutination syndrome, somatic
300622-

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the C1GALT1C1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results