Other morbid association(s)
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Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
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constitutional
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| loss of function
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in STAG2-depleted cells telomere cohesion is normal, but centromere cohesion is prematurely lost | tumoral
| somatic mutation
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in myelodysplastic syndromes, chronic myelogenous leukemia , chronic myelomonocytic leukemia and acute myeloid leukemia | constitutional
| germinal mutation
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| loss of function
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in a syndrome with developmental delay, microcephaly, microtia with hearing loss, language delay, ADHD, and dysmorphic features | constitutional
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STAG2 silencing in normal human cells that lack telomerase led to increased recombination at telomeres, delayed telomere shortening, and postponed senescence onset | tumoral
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| --other
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abnormal expression of STAG2 could cause aneuploidy in normal bladder cells | |