RNF213 - Gene browser

RNF213

ring finger protein 213

HCNC Approved Symbol: RNF213 (HGNC:14539)
Genomic Coordinates: 17:80,260,852 - 80,398,794 (17q25.3)
Synonyms: KIAA1554, NET57, ALO17, C17orf27, KIAA1618, MYMY2
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

115Patients

In total, 115 patients were diagnosed with a variant in the RNF213 gene.

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

0115
Patient count

Stroke: 75 (65.2%)
Patient Count: 75 (65.2%)
% of total patients presenting each phenotype is shown in parentheses.
75 (65.2%)
Moyamoya phenomenon: 18 (15.7%)
Patient Count: 18 (15.7%)
% of total patients presenting each phenotype is shown in parentheses.
18 (15.7%)
Pain: 12 (10.4%)
Patient Count: 12 (10.4%)
% of total patients presenting each phenotype is shown in parentheses.
12 (10.4%)
Left ventricular hypertrophy: 11 (9.6%)
Patient Count: 11 (9.6%)
% of total patients presenting each phenotype is shown in parentheses.
11 (9.6%)
Paresthesia: 11 (9.6%)
Patient Count: 11 (9.6%)
% of total patients presenting each phenotype is shown in parentheses.
11 (9.6%)