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MOK

Synonyms
RAGE, RAGE-1, RAGE1, STK30
External resources
Summary
This gene belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene.

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
45
Likely pathogenic
27
VUS
3,184
Likely benign
27
Benign
0

Patient phenotypes

Proportions of phenotypes among 72 patients carring pathogenic or likely pathogenic variants on MOK gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
44.4%
Abnormality of the musculoskeletal system
33.3%
Abnormality of the eye
26.4%
Abnormality of head or neck
22.2%
Abnormality of the ear
16.7%
Abnormality of the cardiovascular system
15.3%
Abnormality of the integument
9.7%
Growth abnormality
9.7%
Abnormality of the genitourinary system
8.3%
Abnormality of limbs
6.9%
Abnormality of the immune system
4.2%
Abnormality of prenatal development or birth
2.8%
Constitutional symptom
2.8%
Neoplasm
2.8%
Abnormality of blood and blood-forming tissues
1.4%
Abnormality of the digestive system
1.4%
Abnormality of the respiratory system
1.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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