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RIOX2

Synonyms
JMJD10, MDIG, MINA, MINA53, NO52, ROX
External resources
Summary
MINA is a c-Myc (MYC; MIM 190080) target gene that may play a role in cell proliferation or regulation of cell growth. (Tsuneoka et al., 2002

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
28
Likely pathogenic
0
VUS
2,149
Likely benign
750
Benign
0

Patient phenotypes

Proportions of phenotypes among 28 patients carring pathogenic or likely pathogenic variants on RIOX2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.3%
Abnormality of the cardiovascular system
21.4%
Abnormality of the eye
21.4%
Abnormality of the immune system
17.9%
Abnormality of head or neck
14.3%
Abnormality of the musculoskeletal system
14.3%
Abnormality of the digestive system
10.7%
Abnormality of the genitourinary system
10.7%
Abnormality of blood and blood-forming tissues
7.1%
Abnormality of the ear
7.1%
Abnormality of the integument
7.1%
Growth abnormality
7.1%
Abnormal cellular phenotype
3.6%
Abnormality of limbs
3.6%
Abnormality of prenatal development or birth
3.6%
Constitutional symptom
3.6%
Neoplasm
3.6%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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