FREM1 - Gene browser

FREM1

FRAS1 related extracellular matrix 1

HCNC Approved Symbol: FREM1 (HGNC:23399)
Genomic Coordinates: 9:14,737,152 - 14,910,995 (9p22.3)
Synonyms: FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR, C9orf154
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

4Patients

In total, 4 patients were diagnosed with a variant in the FREM1 gene.

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

04
Patient count

Anophthalmia: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Bifid tip of nose: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Unilateral renal agenesis: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Arnold-chiari type i malformation: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)
Corneal opacity: 2 (50.0%)
Patient Count: 2 (50.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (50.0%)