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[Two correlated variants (r� = 0.99 in controls), rs11894252 (P = 1.8 � 10??) and rs7579899 (P = 2.3 � 10??), map to EPAS1 on 2p21, which encodes hypoxia-inducible-factor-2 alpha, a transcription factor previously implicated in RCC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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Gene-disease associations manually curated.
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DisGeNET evidence - CURATED
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