Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3745
Gene name	Potassium voltage-gated channel subfamily B member 1
Gene symbol	KCNB1
Synonyms (NCBI Gene)	DEE26DRK1Kv2.1
Chromosome	20
Chromosome location	20q13.13
Summary	Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuro

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1568658507	T>C	Likely-pathogenic	Coding sequence variant, missense variant

419

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miRTarBase ID	miRNA	Experiments	Reference
MIRT707271	hsa-miR-548c-3p	HITS-CLIP	21572407
MIRT707269	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT707270	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707268	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707267	hsa-miR-4639-5p	HITS-CLIP	21572407
MIRT707266	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT607815	hsa-miR-8485	HITS-CLIP	23313552
MIRT607814	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT607813	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT607812	hsa-miR-603	HITS-CLIP	23313552
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23313552
MIRT612844	hsa-miR-5695	HITS-CLIP	23313552
MIRT607811	hsa-miR-3941	HITS-CLIP	23313552
MIRT607815	hsa-miR-8485	HITS-CLIP	23313552
MIRT607814	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT607813	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT607812	hsa-miR-603	HITS-CLIP	23313552
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23313552
MIRT612844	hsa-miR-5695	HITS-CLIP	23313552
MIRT607811	hsa-miR-3941	HITS-CLIP	23313552
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT667786	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT667785	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT667784	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT667783	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT667782	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT667781	hsa-miR-7850-5p	HITS-CLIP	23824327
MIRT612850	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612849	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612848	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT612847	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT657062	hsa-miR-582-5p	HITS-CLIP	23824327
MIRT657061	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT657060	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT612850	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612849	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612848	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT612847	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT612846	hsa-miR-1305	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT612848	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT612847	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT612850	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612849	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612848	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT612847	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT612846	hsa-miR-1305	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT612850	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612849	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612848	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT612847	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT612846	hsa-miR-1305	HITS-CLIP	23824327
MIRT607815	hsa-miR-8485	HITS-CLIP	23824327
MIRT607812	hsa-miR-603	HITS-CLIP	23824327
MIRT612845	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT612844	hsa-miR-5695	HITS-CLIP	23824327
MIRT607816	hsa-miR-6776-3p	HITS-CLIP	24906430
MIRT607815	hsa-miR-8485	HITS-CLIP	24906430
MIRT607814	hsa-miR-329-3p	HITS-CLIP	24906430
MIRT607813	hsa-miR-362-3p	HITS-CLIP	24906430
MIRT607812	hsa-miR-603	HITS-CLIP	24906430
MIRT607811	hsa-miR-3941	HITS-CLIP	24906430
MIRT567069	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT567068	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT567067	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT567066	hsa-miR-3666	PAR-CLIP	20371350
MIRT567065	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT567064	hsa-miR-4295	PAR-CLIP	20371350
MIRT567063	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT567062	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT567061	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT567060	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT567059	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT567058	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT567057	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT567056	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT567055	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT567054	hsa-miR-520f-3p	PAR-CLIP	20371350
MIRT567053	hsa-miR-302c-3p	PAR-CLIP	20371350
MIRT567052	hsa-miR-3609	PAR-CLIP	20371350
MIRT567051	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT567050	hsa-miR-4796-3p	PAR-CLIP	20371350
MIRT567049	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT567048	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT567047	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT567046	hsa-miR-512-3p	PAR-CLIP	20371350
MIRT567045	hsa-miR-6871-5p	PAR-CLIP	20371350
MIRT567044	hsa-miR-3117-5p	PAR-CLIP	20371350
MIRT567043	hsa-miR-4696	PAR-CLIP	20371350
MIRT567042	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT567041	hsa-miR-3153	PAR-CLIP	20371350
MIRT567040	hsa-miR-6733-5p	PAR-CLIP	20371350
MIRT567039	hsa-miR-6739-5p	PAR-CLIP	20371350
MIRT567038	hsa-miR-4473	PAR-CLIP	20371350
MIRT567037	hsa-miR-514a-3p	PAR-CLIP	20371350
MIRT567036	hsa-miR-514b-3p	PAR-CLIP	20371350
MIRT450824	hsa-miR-548aa	PAR-CLIP	22100165
MIRT450823	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT450822	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT450821	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT450820	hsa-miR-552-5p	PAR-CLIP	22100165
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	27418678
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	27418678
MIRT575005	hsa-miR-5695	HITS-CLIP	27418678
MIRT575005	hsa-miR-5695	HITS-CLIP	27418678
MIRT575007	hsa-miR-603	HITS-CLIP	27418678
MIRT575007	hsa-miR-603	HITS-CLIP	27418678
MIRT575008	hsa-miR-8485	HITS-CLIP	27418678
MIRT575008	hsa-miR-8485	HITS-CLIP	27418678
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	28735896
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	28735896
MIRT575005	hsa-miR-5695	HITS-CLIP	28735896
MIRT575005	hsa-miR-5695	HITS-CLIP	28735896
MIRT575007	hsa-miR-603	HITS-CLIP	28735896
MIRT575007	hsa-miR-603	HITS-CLIP	28735896
MIRT575008	hsa-miR-8485	HITS-CLIP	28735896
MIRT575008	hsa-miR-8485	HITS-CLIP	28735896
MIRT707271	hsa-miR-548c-3p	HITS-CLIP	21572407
MIRT707269	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT707270	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT707268	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT707267	hsa-miR-4639-5p	HITS-CLIP	21572407
MIRT707266	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT575008	hsa-miR-8485	HITS-CLIP	23313552
MIRT607814	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT607813	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT575007	hsa-miR-603	HITS-CLIP	23313552
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23313552
MIRT575005	hsa-miR-5695	HITS-CLIP	23313552
MIRT607811	hsa-miR-3941	HITS-CLIP	23313552
MIRT575008	hsa-miR-8485	HITS-CLIP	23313552
MIRT607814	hsa-miR-329-3p	HITS-CLIP	23313552
MIRT607813	hsa-miR-362-3p	HITS-CLIP	23313552
MIRT575007	hsa-miR-603	HITS-CLIP	23313552
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23313552
MIRT575005	hsa-miR-5695	HITS-CLIP	23313552
MIRT607811	hsa-miR-3941	HITS-CLIP	23313552
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT667786	hsa-miR-129-1-3p	HITS-CLIP	23824327
MIRT667785	hsa-miR-129-2-3p	HITS-CLIP	23824327
MIRT667784	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT667783	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT667782	hsa-miR-6505-5p	HITS-CLIP	23824327
MIRT667781	hsa-miR-7850-5p	HITS-CLIP	23824327
MIRT612850	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612849	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612848	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT612847	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT657062	hsa-miR-582-5p	HITS-CLIP	23824327
MIRT657061	hsa-let-7a-2-3p	HITS-CLIP	23824327
MIRT657060	hsa-let-7g-3p	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT612850	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612849	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612848	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT612847	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT612846	hsa-miR-1305	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT612848	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT612847	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT612850	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612849	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612848	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT612847	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT612846	hsa-miR-1305	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT612850	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT612849	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT612848	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT612847	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT612846	hsa-miR-1305	HITS-CLIP	23824327
MIRT575008	hsa-miR-8485	HITS-CLIP	23824327
MIRT575007	hsa-miR-603	HITS-CLIP	23824327
MIRT575006	hsa-miR-3145-5p	HITS-CLIP	23824327
MIRT575005	hsa-miR-5695	HITS-CLIP	23824327
MIRT567069	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT567068	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT567067	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT567066	hsa-miR-3666	PAR-CLIP	20371350
MIRT567065	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT567064	hsa-miR-4295	PAR-CLIP	20371350
MIRT567063	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT567062	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT567061	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT567060	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT567059	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT567058	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT567057	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT567056	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT567055	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT567054	hsa-miR-520f-3p	PAR-CLIP	20371350
MIRT567053	hsa-miR-302c-3p	PAR-CLIP	20371350
MIRT567052	hsa-miR-3609	PAR-CLIP	20371350
MIRT567051	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT567050	hsa-miR-4796-3p	PAR-CLIP	20371350
MIRT567049	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT567048	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT567047	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT567046	hsa-miR-512-3p	PAR-CLIP	20371350
MIRT567045	hsa-miR-6871-5p	PAR-CLIP	20371350
MIRT567044	hsa-miR-3117-5p	PAR-CLIP	20371350
MIRT567043	hsa-miR-4696	PAR-CLIP	20371350
MIRT567042	hsa-miR-4668-5p	PAR-CLIP	20371350
MIRT567041	hsa-miR-3153	PAR-CLIP	20371350
MIRT567040	hsa-miR-6733-5p	PAR-CLIP	20371350
MIRT567039	hsa-miR-6739-5p	PAR-CLIP	20371350
MIRT567038	hsa-miR-4473	PAR-CLIP	20371350
MIRT567037	hsa-miR-514a-3p	PAR-CLIP	20371350
MIRT567036	hsa-miR-514b-3p	PAR-CLIP	20371350
MIRT450824	hsa-miR-548aa	PAR-CLIP	22100165
MIRT450823	hsa-miR-548ap-3p	PAR-CLIP	22100165
MIRT450822	hsa-miR-548t-3p	PAR-CLIP	22100165
MIRT450821	hsa-miR-570-3p	PAR-CLIP	22100165
MIRT450820	hsa-miR-552-5p	PAR-CLIP	22100165
MIRT1080431	hsa-miR-1289	CLIP-seq
MIRT1080432	hsa-miR-1321	CLIP-seq
MIRT1080433	hsa-miR-3162-5p	CLIP-seq
MIRT1080434	hsa-miR-3198	CLIP-seq
MIRT1080435	hsa-miR-326	CLIP-seq
MIRT1080436	hsa-miR-330-5p	CLIP-seq
MIRT1080437	hsa-miR-3614-3p	CLIP-seq
MIRT1080438	hsa-miR-3617	CLIP-seq
MIRT1080439	hsa-miR-4294	CLIP-seq
MIRT1080440	hsa-miR-4309	CLIP-seq
MIRT1080441	hsa-miR-4739	CLIP-seq
MIRT1080442	hsa-miR-4756-5p	CLIP-seq
MIRT1080443	hsa-miR-516b	CLIP-seq
MIRT1080444	hsa-miR-641	CLIP-seq
MIRT1080445	hsa-miR-942	CLIP-seq
MIRT1550397	hsa-miR-1224-3p	CLIP-seq
MIRT1550398	hsa-miR-1237	CLIP-seq
MIRT1550399	hsa-miR-3652	CLIP-seq
MIRT1550400	hsa-miR-4430	CLIP-seq
MIRT1550401	hsa-miR-4505	CLIP-seq
MIRT1550402	hsa-miR-4539	CLIP-seq
MIRT1550403	hsa-miR-647	CLIP-seq
MIRT2251865	hsa-miR-944	CLIP-seq

Show/Hide all (98)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IEA
GO:0001508	Process	Action potential	IBA
GO:0001508	Process	Action potential	IDA	19223394
GO:0001508	Process	Action potential	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IEA
GO:0005249	Function	Voltage-gated potassium channel activity	IMP	39469306
GO:0005251	Function	Delayed rectifier potassium channel activity	IDA	1283219, 8081723, 10484328, 11852086, 19074135, 19223394
GO:0005251	Function	Delayed rectifier potassium channel activity	IEA
GO:0005251	Function	Delayed rectifier potassium channel activity	ISS
GO:0005267	Function	Potassium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	10484328, 11852086, 33124732, 34535971
GO:0005886	Component	Plasma membrane	IDA	19223394
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0006904	Process	Vesicle docking involved in exocytosis	IEA
GO:0006904	Process	Vesicle docking involved in exocytosis	ISS
GO:0007215	Process	Glutamate receptor signaling pathway	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	ISS
GO:0008076	Component	Voltage-gated potassium channel complex	IBA
GO:0008076	Component	Voltage-gated potassium channel complex	IDA	19074135, 19223394
GO:0008076	Component	Voltage-gated potassium channel complex	IEA
GO:0008076	Component	Voltage-gated potassium channel complex	ISS
GO:0009986	Component	Cell surface	IEA
GO:0010701	Process	Positive regulation of norepinephrine secretion	IEA
GO:0010701	Process	Positive regulation of norepinephrine secretion	ISS
GO:0015271	Function	Outward rectifier potassium channel activity	IEA
GO:0015459	Function	Potassium channel regulator activity	IBA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031669	Process	Cellular response to nutrient levels	IEA
GO:0031669	Process	Cellular response to nutrient levels	ISS
GO:0032590	Component	Dendrite membrane	IBA
GO:0032590	Component	Dendrite membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	IBA
GO:0032809	Component	Neuronal cell body membrane	IEA
GO:0032809	Component	Neuronal cell body membrane	ISS
GO:0033605	Process	Positive regulation of catecholamine secretion	IEA
GO:0033605	Process	Positive regulation of catecholamine secretion	ISS
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034702	Component	Monoatomic ion channel complex	IEA
GO:0042383	Component	Sarcolemma	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	19074135
GO:0045163	Process	Clustering of voltage-gated potassium channels	IEA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IEA
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	ISS
GO:0046676	Process	Negative regulation of insulin secretion	IEA
GO:0046676	Process	Negative regulation of insulin secretion	ISS
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048678	Process	Response to axon injury	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071333	Process	Cellular response to glucose stimulus	ISS
GO:0071805	Process	Potassium ion transmembrane transport	IBA
GO:0071805	Process	Potassium ion transmembrane transport	IDA	19074135, 19223394
GO:0071805	Process	Potassium ion transmembrane transport	IEA
GO:0071805	Process	Potassium ion transmembrane transport	ISS
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	ISS
GO:0090314	Process	Positive regulation of protein targeting to membrane	IDA	19074135
GO:0090314	Process	Positive regulation of protein targeting to membrane	IEA
GO:0090314	Process	Positive regulation of protein targeting to membrane	ISS
GO:0097623	Process	Potassium ion export across plasma membrane	IEA
GO:0098900	Process	Regulation of action potential	IEA
GO:0098900	Process	Regulation of action potential	ISS
GO:0098981	Component	Cholinergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1900454	Process	Positive regulation of long-term synaptic depression	IEA
GO:1900454	Process	Positive regulation of long-term synaptic depression	ISS
GO:1902065	Process	Response to L-glutamate	IEA
GO:1990635	Component	Proximal dendrite	IEA
GO:2000671	Process	Regulation of motor neuron apoptotic process	IEA
GO:2000671	Process	Regulation of motor neuron apoptotic process	ISS

MIM	HGNC	e!Ensembl
600397	6231	ENSG00000158445

Q14721

Protein name

Potassium voltage-gated channel subfamily B member 1 (Delayed rectifier potassium channel 1) (DRK1) (h-DRK1) (Voltage-gated potassium channel subunit Kv2.1)

Protein function

Voltage-gated potassium channel that mediates transmembrane potassium transport in excitable membranes, primarily in the brain, but also in the pancreas and cardiovascular system. Contributes to the regulation of the action potential (AP) repola

PDB

7RE5 , 7SPD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02214	BTB_2	33 → 132	BTB/POZ domain	Domain
PF00520	Ion_trans	188 → 424	Ion transport protein	Family
PF03521	Kv2channel	467 → 619	Kv2 voltage-gated K+ channel	Family
PF03521	Kv2channel	637 → 685	Kv2 voltage-gated K+ channel	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in neocortical pyramidal cells (PubMed:24477962). Expressed in pancreatic beta cells (at protein level) (PubMed:12403834, PubMed:14988243). Expressed in brain, heart, lung, liver, colon, kidney and adrenal gland (PubMed:19074

Sequence

MPAGMTKHGSRSTSSLPPEPMEIVRSKACSRRVRLNVGGLAHEVLWRTLDRLPRTRLGKL
RDCNTHDSLLEVCDDYSLDDNEYFFDRHPGAFTSILNFYRTGRLHMMEEMCALSFSQELD
YWGIDEIYLESCCQARYHQKKEQMNEELKREAETLREREGEEFDNTCCAEKRKKLWDLLE
KPNSSVAAKILAIISIMFIVLSTIALSLNTLPELQSLDEFGQSTDNPQLAHVEAVCIAWF
TMEYLLRFLSSPKKWKFFKGPLNAIDLLAILPYYVTIFLTESNKSVLQFQNVRRVVQIFR
IMRILRILKLARHSTGLQSLGFTLRRSYNELGLLILFLAMGIMIFSSLVFFAEKDEDDTK
FKSIPASFWWATITMTTVGYGDIYPKTLLGKIVGGLCCIAGVLVIALPIPIIVNNFSEFY
KEQKRQEKAIKRREALERAKRNGSIVSMNMKDAFARSIEMMDIVVEKNGENMGKKDKVQD
NHLSPNKWKWTKRTLSETSSSKSFETKEQGSPEKARSSSSPQHLNVQQLEDMYNKMAKTQ
SQPILNTKESAAQSKPKEELEMESIPSPVAPLPTRTEGVIDMRSMSSIDSFISCATDFPE
ATRFSHSPLTSLPSKTGGSTAPEVGWRGALGASGGRFVEANPSPDASQHSSFFIESPKSS
MKTNNPLKLRALKVNFMEGDPSPLLPVLGMYHDPLRNRGSAAAAVAGLECATLLDKAVLS
PESSIYTTASAKTPPRSPEKHTAIAFNFEAGVHQYIDADTDDEGQLLYSVDSSPPKSLPG
STSPKFSTGTRSEKNHFESSPLPTSPKFLRQNCIYSTEALTGKGPSGQEKCKLENHISPD
VRVLPGGGAHGSTRDQSI

Sequence length

858

Interactions

View interactions

	Reactome
			Voltage gated Potassium channels Glucagon-like Peptide-1 (GLP1) regulates insulin secretion

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Developmental and epileptic encephalopathy	Likely pathogenic; Pathogenic	rs1060499592, rs1555889127, rs1984233764, rs1984259606	RCV001249557 RCV001249561 RCV001249558 RCV001249556	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 26	Pathogenic; Likely pathogenic	rs1984249721, rs2146813554, rs1984261678, rs2146813951, rs1984259606, rs2146813259, rs2146813598, rs1555889162, rs2146813954, rs2146812849, rs2146813695, rs2146813797, rs2146814335, rs587777848, rs587777849 View all (45 more)	RCV001333329 RCV001360516 RCV001366969 RCV001379870 RCV001378612 View all (61 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
developmental encephalopathy with epilepsy	Pathogenic; Likely pathogenic	rs1555889130, rs1555889127, rs1555889162	RCV001249560 RCV001249555 RCV001249559	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Pathogenic	rs1555889130	RCV005625667	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Pathogenic; Likely pathogenic	rs1555889130, rs587777848, rs1555889127, rs959316981, rs1555889108, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507 View all (2 more)	RCV000782146 RCV000782152 RCV000782148 RCV000782162 RCV000782151 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs886039396, rs2516851652, rs1555889130, rs1555889127, rs959316981, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1601071971, rs1984252016	RCV000782147 RCV005622227 RCV001255349 RCV001257726 RCV001255320 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
KCNB1-related disorder	Pathogenic; Likely pathogenic	rs886041743, rs2516851908, rs1555889162	RCV004725135 RCV004534228 RCV000677403	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Marfanoid habitus and intellectual disability	Likely pathogenic; Pathogenic	rs1601071071	RCV000850450	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myoclonic absence seizure	Pathogenic	rs1555889130	RCV001003632	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Pathogenic; Likely pathogenic	rs587777848, rs1569017257	RCV002273960 RCV002274100	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1555889084	RCV005624414	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rare genetic intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (78)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Atrial Fibrillation	Atrial Fibrillation	BEFREE	17016049		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	32954514	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	26477325, 33607466	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bruxism	Bruxism	Pubtator	29322350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28607108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30958317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32484056, 33172410, 33267786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	26477325, 28806457, 32954514	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	29352517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	29352517	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28607108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23431371, 28607108, 31085831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23431371		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	31513310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26477325, 27928161, 31653223, 31682765		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Epilepsy	Pubtator	31653223, 32954514	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy Benign Neonatal	Benign neonatal epilepsy	Pubtator	26477325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	25164438, 26477325, 26503721, 28807863, 31682765		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	32853554, 32954514, 34181986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26	Epileptic encephalopathy	CLINVAR_DG	25164438, 26477325, 26648591, 28252636, 28806457, 29264397		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	25164438		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26	Epileptic encephalopathy	UNIPROT_DG	25164438, 26477325, 26503721		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26	Epileptic encephalopathy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	33267786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	BEFREE	26477325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28144039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	28144039	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26477325, 27928161, 28806457		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG	28252636, 29264397		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	31248429	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	19454037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36651941	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30922570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	26377690, 29352517	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27928161		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	32954514	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	19454037		★★★★★ ★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	BEFREE	11310586, 19041715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29942085		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metabolic Syndrome	Metabolic syndrome	Pubtator	26377690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26377690		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Skills Disorders	Motor skills disorder	Pubtator	29322350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic absences	Myoclonic absences	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28144039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30050035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26477325, 28806457, 31513310, 31600826		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	22442077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33407994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	26477325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Cone Dystrophy 3A	Retinal cone dystrophy	Pubtator	34535971	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	29322350		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	29322350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26240432		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	CTD_human_DG	26240432		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	26477325, 28806457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	31394400	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33267786	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	19454037	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

KCNB1 (potassium voltage-gated channel subfamily B member 1)