SAMD9L - Gene browser

SAMD9L

sterile alpha motif domain containing 9 like

HCNC Approved Symbol: SAMD9L (HGNC:1349)
Genomic Coordinates: 7:93,130,056 - 93,148,385 (7q21.2)
Synonyms: KIAA2005, FLJ39885, C7orf6
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

7Patients

In total, 7 patients were diagnosed with a variant in the SAMD9L gene.

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

07
Patient count

Aplastic anemia: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Pancytopenia: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Perianal abscess: 2 (28.6%)
Patient Count: 2 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
2 (28.6%)
Elevated hepatic transaminase: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)
Elevated transaminases: 1 (14.3%)
Patient Count: 1 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (14.3%)