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EMID1

Synonyms
EMI5, EMU1
External resources

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
18
Likely pathogenic
1
VUS
3,069
Likely benign
166
Benign
0

Patient Phenotypes

Proportions of phenotypes among 18 patients carrying pathogenic or likely pathogenic variants on EMID1 gene are displayed below. The following symptoms were found in patients with a variant in EMID1. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
33.3%
Abnormality of the nervous system
33.3%
Abnormality of head or neck
27.8%
Abnormality of the ear
27.8%
Abnormality of the eye
27.8%
Abnormality of limbs
22.2%
Abnormality of the cardiovascular system
22.2%
Abnormality of the genitourinary system
22.2%
Abnormality of metabolism homeostasis
16.7%
Abnormality of the digestive system
16.7%
Growth abnormality
16.7%
Abnormality of prenatal development or birth
5.6%
Abnormality of the breast
5.6%
Abnormality of the immune system
5.6%
Abnormality of the respiratory system
5.6%
Neoplasm
5.6%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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