PTPN11 - Gene browser

PTPN11

protein tyrosine phosphatase non-receptor type 11

HCNC Approved Symbol: PTPN11 (HGNC:9644)
Genomic Coordinates: 12:112,418,947 - 112,509,918 (12q24.13)
Synonyms: BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2, NS1
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

131Patients

In total, 131 patients were diagnosed with a variant in the PTPN11 gene.

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

0131
Patient count

Short stature: 32 (24.4%)
Patient Count: 32 (24.4%)
% of total patients presenting each phenotype is shown in parentheses.
32 (24.4%)
Hypertelorism: 21 (16.0%)
Patient Count: 21 (16.0%)
% of total patients presenting each phenotype is shown in parentheses.
21 (16.0%)
Low set ears: 17 (13.0%)
Patient Count: 17 (13.0%)
% of total patients presenting each phenotype is shown in parentheses.
17 (13.0%)
Failure to thrive: 15 (11.5%)
Patient Count: 15 (11.5%)
% of total patients presenting each phenotype is shown in parentheses.
15 (11.5%)
Pulmonary stenosis: 12 (9.2%)
Patient Count: 12 (9.2%)
% of total patients presenting each phenotype is shown in parentheses.
12 (9.2%)