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PubMed:2263616 JSONTXT

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PubmedHPO

Id Subject Object Predicate Lexical cue
T1 200-219 HP_0000007 denotes autosomal recessive

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
2263616-9#47#51#geners28940585 1677-1681 geners28940585 denotes R95C
2263616-9#47#51#geners374304304 1677-1681 geners374304304 denotes R95C
2263616-9#107#122#diseaseC0268547 1737-1752 diseaseC0268547 denotes ASAL deficiency
47#51#geners28940585107#122#diseaseC0268547 2263616-9#47#51#geners28940585 2263616-9#107#122#diseaseC0268547 associated_with R95C,ASAL deficiency
47#51#geners374304304107#122#diseaseC0268547 2263616-9#47#51#geners374304304 2263616-9#107#122#diseaseC0268547 associated_with R95C,ASAL deficiency