DMPK (DM1 protein kinase)

Gene

• Entrez ID: 1760
• Gene name: DM1 protein kinase
• Gene symbol: DMPK
• Synonyms (NCBI Gene): DM, DM1, DM1PK, DMK, MDPK, MT-PK
• Chromosome: 19
• Chromosome location: 19q13.32
• Summary: The protein encoded by this gene is a serine-threonine kinase that is closely related to other kinases that interact with members of the Rho family of small GTPases. Substrates for this enzyme include myogenin, the beta-subunit of the L-type calcium chann

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs762280354	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017260	hsa-miR-335-5p	Microarray	18185580
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	22927820
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	22927820
MIRT509366	hsa-miR-16-5p	HITS-CLIP	22927820
MIRT509365	hsa-miR-195-5p	HITS-CLIP	22927820
MIRT509364	hsa-miR-424-5p	HITS-CLIP	22927820
MIRT509363	hsa-miR-497-5p	HITS-CLIP	22927820
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	22927820
MIRT551016	hsa-miR-1179	HITS-CLIP	22927820
MIRT551015	hsa-miR-4310	HITS-CLIP	22927820
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	22927820
MIRT551013	hsa-miR-4530	HITS-CLIP	22927820
MIRT551012	hsa-miR-361-3p	HITS-CLIP	22927820
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	22927820
MIRT551010	hsa-miR-107	HITS-CLIP	22927820
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT509366	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT509365	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT509364	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT509363	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT551016	hsa-miR-1179	HITS-CLIP	23824327
MIRT551015	hsa-miR-4310	HITS-CLIP	23824327
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	23824327
MIRT551010	hsa-miR-107	HITS-CLIP	23824327
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT509366	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT509365	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT509364	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT509363	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT551016	hsa-miR-1179	HITS-CLIP	23824327
MIRT551015	hsa-miR-4310	HITS-CLIP	23824327
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT551013	hsa-miR-4530	HITS-CLIP	23824327
MIRT551012	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	23824327
MIRT551010	hsa-miR-107	HITS-CLIP	23824327
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	24906430
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	24906430
MIRT509366	hsa-miR-16-5p	HITS-CLIP	24906430
MIRT509365	hsa-miR-195-5p	HITS-CLIP	24906430
MIRT509364	hsa-miR-424-5p	HITS-CLIP	24906430
MIRT509363	hsa-miR-497-5p	HITS-CLIP	24906430
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	24906430
MIRT551016	hsa-miR-1179	HITS-CLIP	24906430
MIRT551015	hsa-miR-4310	HITS-CLIP	24906430
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	24906430
MIRT551013	hsa-miR-4530	HITS-CLIP	24906430
MIRT551012	hsa-miR-361-3p	HITS-CLIP	24906430
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	24906430
MIRT551010	hsa-miR-107	HITS-CLIP	24906430
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	24906430
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	24906430
MIRT509366	hsa-miR-16-5p	HITS-CLIP	24906430
MIRT509365	hsa-miR-195-5p	HITS-CLIP	24906430
MIRT509364	hsa-miR-424-5p	HITS-CLIP	24906430
MIRT509363	hsa-miR-497-5p	HITS-CLIP	24906430
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	24906430
MIRT551016	hsa-miR-1179	HITS-CLIP	24906430
MIRT551015	hsa-miR-4310	HITS-CLIP	24906430
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	24906430
MIRT551013	hsa-miR-4530	HITS-CLIP	24906430
MIRT551012	hsa-miR-361-3p	HITS-CLIP	24906430
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	24906430
MIRT551010	hsa-miR-107	HITS-CLIP	24906430
MIRT509368	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT509367	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT509366	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT509365	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT509364	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT509363	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT509362	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT551016	hsa-miR-1179	PAR-CLIP	21572407
MIRT551015	hsa-miR-4310	PAR-CLIP	21572407
MIRT551014	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT551013	hsa-miR-4530	PAR-CLIP	21572407
MIRT551012	hsa-miR-361-3p	PAR-CLIP	21572407
MIRT551011	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT551010	hsa-miR-107	PAR-CLIP	21572407
MIRT509368	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT509367	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT509366	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT509365	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT509364	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT509363	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT509362	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT551011	hsa-miR-103a-3p	PAR-CLIP	27292025
MIRT551011	hsa-miR-103a-3p	PAR-CLIP	27292025
MIRT551010	hsa-miR-107	PAR-CLIP	27292025
MIRT551010	hsa-miR-107	PAR-CLIP	27292025
MIRT551016	hsa-miR-1179	PAR-CLIP	27292025
MIRT551016	hsa-miR-1179	PAR-CLIP	27292025
MIRT509368	hsa-miR-15a-5p	PAR-CLIP	27292025
MIRT509368	hsa-miR-15a-5p	PAR-CLIP	27292025
MIRT509367	hsa-miR-15b-5p	PAR-CLIP	27292025
MIRT509367	hsa-miR-15b-5p	PAR-CLIP	27292025
MIRT509366	hsa-miR-16-5p	PAR-CLIP	27292025
MIRT509366	hsa-miR-16-5p	PAR-CLIP	27292025
MIRT575914	hsa-miR-187-5p	PAR-CLIP	27292025
MIRT575914	hsa-miR-187-5p	PAR-CLIP	27292025
MIRT509365	hsa-miR-195-5p	PAR-CLIP	27292025
MIRT509365	hsa-miR-195-5p	PAR-CLIP	27292025
MIRT509364	hsa-miR-424-5p	PAR-CLIP	27292025
MIRT509364	hsa-miR-424-5p	PAR-CLIP	27292025
MIRT551015	hsa-miR-4310	PAR-CLIP	27292025
MIRT551015	hsa-miR-4310	PAR-CLIP	27292025
MIRT509363	hsa-miR-497-5p	PAR-CLIP	27292025
MIRT509363	hsa-miR-497-5p	PAR-CLIP	27292025
MIRT575929	hsa-miR-624-3p	PAR-CLIP	27292025
MIRT575929	hsa-miR-624-3p	PAR-CLIP	27292025
MIRT509362	hsa-miR-6838-5p	PAR-CLIP	27292025
MIRT509362	hsa-miR-6838-5p	PAR-CLIP	27292025
MIRT551014	hsa-miR-7157-5p	PAR-CLIP	27292025
MIRT551014	hsa-miR-7157-5p	PAR-CLIP	27292025
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	27418678
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	27418678
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	27418678
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	27418678
MIRT551010	hsa-miR-107	HITS-CLIP	27418678
MIRT551010	hsa-miR-107	HITS-CLIP	27418678
MIRT551010	hsa-miR-107	HITS-CLIP	27418678
MIRT551010	hsa-miR-107	HITS-CLIP	27418678
MIRT551016	hsa-miR-1179	HITS-CLIP	27418678
MIRT551016	hsa-miR-1179	HITS-CLIP	27418678
MIRT551016	hsa-miR-1179	HITS-CLIP	27418678
MIRT551016	hsa-miR-1179	HITS-CLIP	27418678
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	27418678
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	27418678
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	27418678
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	27418678
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	27418678
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	27418678
MIRT509366	hsa-miR-16-5p	HITS-CLIP	27418678
MIRT509366	hsa-miR-16-5p	HITS-CLIP	27418678
MIRT509366	hsa-miR-16-5p	HITS-CLIP	27418678
MIRT575914	hsa-miR-187-5p	HITS-CLIP	27418678
MIRT575914	hsa-miR-187-5p	HITS-CLIP	27418678
MIRT575914	hsa-miR-187-5p	HITS-CLIP	27418678
MIRT575914	hsa-miR-187-5p	HITS-CLIP	27418678
MIRT509365	hsa-miR-195-5p	HITS-CLIP	27418678
MIRT509365	hsa-miR-195-5p	HITS-CLIP	27418678
MIRT509365	hsa-miR-195-5p	HITS-CLIP	27418678
MIRT509364	hsa-miR-424-5p	HITS-CLIP	27418678
MIRT509364	hsa-miR-424-5p	HITS-CLIP	27418678
MIRT509364	hsa-miR-424-5p	HITS-CLIP	27418678
MIRT551015	hsa-miR-4310	HITS-CLIP	27418678
MIRT551015	hsa-miR-4310	HITS-CLIP	27418678
MIRT551015	hsa-miR-4310	HITS-CLIP	27418678
MIRT551015	hsa-miR-4310	HITS-CLIP	27418678
MIRT509363	hsa-miR-497-5p	HITS-CLIP	27418678
MIRT509363	hsa-miR-497-5p	HITS-CLIP	27418678
MIRT509363	hsa-miR-497-5p	HITS-CLIP	27418678
MIRT575929	hsa-miR-624-3p	HITS-CLIP	27418678
MIRT575929	hsa-miR-624-3p	HITS-CLIP	27418678
MIRT575929	hsa-miR-624-3p	HITS-CLIP	27418678
MIRT575929	hsa-miR-624-3p	HITS-CLIP	27418678
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	27418678
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	27418678
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	27418678
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	27418678
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	27418678
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	27418678
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	27418678
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	28735896
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	28735896
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	28735896
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	28735896
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	28735896
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	28735896
MIRT551010	hsa-miR-107	HITS-CLIP	28735896
MIRT551010	hsa-miR-107	HITS-CLIP	28735896
MIRT551010	hsa-miR-107	HITS-CLIP	28735896
MIRT551010	hsa-miR-107	HITS-CLIP	28735896
MIRT551010	hsa-miR-107	HITS-CLIP	28735896
MIRT551010	hsa-miR-107	HITS-CLIP	28735896
MIRT551016	hsa-miR-1179	HITS-CLIP	28735896
MIRT551016	hsa-miR-1179	HITS-CLIP	28735896
MIRT551016	hsa-miR-1179	HITS-CLIP	28735896
MIRT551016	hsa-miR-1179	HITS-CLIP	28735896
MIRT551016	hsa-miR-1179	HITS-CLIP	28735896
MIRT551016	hsa-miR-1179	HITS-CLIP	28735896
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	28735896
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	28735896
MIRT509366	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT509366	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT509366	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT509366	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT509366	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT509366	hsa-miR-16-5p	HITS-CLIP	28735896
MIRT575914	hsa-miR-187-5p	HITS-CLIP	28735896
MIRT575914	hsa-miR-187-5p	HITS-CLIP	28735896
MIRT575914	hsa-miR-187-5p	HITS-CLIP	28735896
MIRT575914	hsa-miR-187-5p	HITS-CLIP	28735896
MIRT575914	hsa-miR-187-5p	HITS-CLIP	28735896
MIRT575914	hsa-miR-187-5p	HITS-CLIP	28735896
MIRT509365	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT509365	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT509365	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT509365	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT509365	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT509365	hsa-miR-195-5p	HITS-CLIP	28735896
MIRT509364	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT509364	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT509364	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT509364	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT509364	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT509364	hsa-miR-424-5p	HITS-CLIP	28735896
MIRT551015	hsa-miR-4310	HITS-CLIP	28735896
MIRT551015	hsa-miR-4310	HITS-CLIP	28735896
MIRT551015	hsa-miR-4310	HITS-CLIP	28735896
MIRT551015	hsa-miR-4310	HITS-CLIP	28735896
MIRT551015	hsa-miR-4310	HITS-CLIP	28735896
MIRT551015	hsa-miR-4310	HITS-CLIP	28735896
MIRT509363	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT509363	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT509363	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT509363	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT509363	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT509363	hsa-miR-497-5p	HITS-CLIP	28735896
MIRT575929	hsa-miR-624-3p	HITS-CLIP	28735896
MIRT575929	hsa-miR-624-3p	HITS-CLIP	28735896
MIRT575929	hsa-miR-624-3p	HITS-CLIP	28735896
MIRT575929	hsa-miR-624-3p	HITS-CLIP	28735896
MIRT575929	hsa-miR-624-3p	HITS-CLIP	28735896
MIRT575929	hsa-miR-624-3p	HITS-CLIP	28735896
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	28735896
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	28735896
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	28735896
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	28735896
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	28735896
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	28735896
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	28735896
MIRT735733	hsa-miR-7-5p	Western blotting, Immunofluorescence, qRT-PCR	31855836
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	22927820
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	22927820
MIRT509366	hsa-miR-16-5p	HITS-CLIP	22927820
MIRT509365	hsa-miR-195-5p	HITS-CLIP	22927820
MIRT509364	hsa-miR-424-5p	HITS-CLIP	22927820
MIRT509363	hsa-miR-497-5p	HITS-CLIP	22927820
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	22927820
MIRT551016	hsa-miR-1179	HITS-CLIP	22927820
MIRT551015	hsa-miR-4310	HITS-CLIP	22927820
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	22927820
MIRT551013	hsa-miR-4530	HITS-CLIP	22927820
MIRT551012	hsa-miR-361-3p	HITS-CLIP	22927820
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	22927820
MIRT551010	hsa-miR-107	HITS-CLIP	22927820
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT509366	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT509365	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT509364	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT509363	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT551016	hsa-miR-1179	HITS-CLIP	23824327
MIRT551015	hsa-miR-4310	HITS-CLIP	23824327
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	23824327
MIRT551010	hsa-miR-107	HITS-CLIP	23824327
MIRT509368	hsa-miR-15a-5p	HITS-CLIP	23824327
MIRT509367	hsa-miR-15b-5p	HITS-CLIP	23824327
MIRT509366	hsa-miR-16-5p	HITS-CLIP	23824327
MIRT509365	hsa-miR-195-5p	HITS-CLIP	23824327
MIRT509364	hsa-miR-424-5p	HITS-CLIP	23824327
MIRT509363	hsa-miR-497-5p	HITS-CLIP	23824327
MIRT509362	hsa-miR-6838-5p	HITS-CLIP	23824327
MIRT551016	hsa-miR-1179	HITS-CLIP	23824327
MIRT551015	hsa-miR-4310	HITS-CLIP	23824327
MIRT551014	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT551013	hsa-miR-4530	HITS-CLIP	23824327
MIRT551012	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT551011	hsa-miR-103a-3p	HITS-CLIP	23824327
MIRT551010	hsa-miR-107	HITS-CLIP	23824327
MIRT509368	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT509367	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT509366	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT509365	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT509364	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT509363	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT509362	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT551016	hsa-miR-1179	PAR-CLIP	21572407
MIRT551015	hsa-miR-4310	PAR-CLIP	21572407
MIRT551014	hsa-miR-7157-5p	PAR-CLIP	21572407
MIRT551013	hsa-miR-4530	PAR-CLIP	21572407
MIRT551012	hsa-miR-361-3p	PAR-CLIP	21572407
MIRT551011	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT551010	hsa-miR-107	PAR-CLIP	21572407
MIRT509368	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT509367	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT509366	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT509365	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT509364	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT509363	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT509362	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT939160	hsa-miR-1	CLIP-seq
MIRT939161	hsa-miR-103a	CLIP-seq
MIRT939162	hsa-miR-1275	CLIP-seq
MIRT939163	hsa-miR-148a	CLIP-seq
MIRT939164	hsa-miR-148b	CLIP-seq
MIRT939165	hsa-miR-152	CLIP-seq
MIRT939166	hsa-miR-15a	CLIP-seq
MIRT939167	hsa-miR-15b	CLIP-seq
MIRT939168	hsa-miR-16	CLIP-seq
MIRT939169	hsa-miR-195	CLIP-seq
MIRT939170	hsa-miR-206	CLIP-seq
MIRT939171	hsa-miR-3137	CLIP-seq
MIRT939172	hsa-miR-3147	CLIP-seq
MIRT939173	hsa-miR-3170	CLIP-seq
MIRT939174	hsa-miR-324-5p	CLIP-seq
MIRT939175	hsa-miR-424	CLIP-seq
MIRT939176	hsa-miR-4264	CLIP-seq
MIRT939177	hsa-miR-4293	CLIP-seq
MIRT939178	hsa-miR-4425	CLIP-seq
MIRT939179	hsa-miR-4486	CLIP-seq
MIRT939180	hsa-miR-4512	CLIP-seq
MIRT939181	hsa-miR-4523	CLIP-seq
MIRT939182	hsa-miR-4527	CLIP-seq
MIRT939183	hsa-miR-4534	CLIP-seq
MIRT939184	hsa-miR-4665-5p	CLIP-seq
MIRT939185	hsa-miR-4677-3p	CLIP-seq
MIRT939186	hsa-miR-4679	CLIP-seq
MIRT939187	hsa-miR-4797-3p	CLIP-seq
MIRT939188	hsa-miR-4802-5p	CLIP-seq
MIRT939189	hsa-miR-486-5p	CLIP-seq
MIRT939190	hsa-miR-497	CLIP-seq
MIRT939191	hsa-miR-522	CLIP-seq
MIRT939192	hsa-miR-596	CLIP-seq
MIRT939193	hsa-miR-613	CLIP-seq
MIRT939194	hsa-miR-615-5p	CLIP-seq
MIRT939195	hsa-miR-624	CLIP-seq
MIRT939161	hsa-miR-103a	CLIP-seq
MIRT939166	hsa-miR-15a	CLIP-seq
MIRT939167	hsa-miR-15b	CLIP-seq
MIRT939168	hsa-miR-16	CLIP-seq
MIRT939169	hsa-miR-195	CLIP-seq
MIRT939175	hsa-miR-424	CLIP-seq
MIRT939190	hsa-miR-497	CLIP-seq
MIRT939161	hsa-miR-103a	CLIP-seq
MIRT939166	hsa-miR-15a	CLIP-seq
MIRT939167	hsa-miR-15b	CLIP-seq
MIRT939168	hsa-miR-16	CLIP-seq
MIRT939169	hsa-miR-195	CLIP-seq
MIRT1977840	hsa-miR-2392	CLIP-seq
MIRT1977841	hsa-miR-342-5p	CLIP-seq
MIRT1977842	hsa-miR-3605-5p	CLIP-seq
MIRT939175	hsa-miR-424	CLIP-seq
MIRT1977843	hsa-miR-4664-5p	CLIP-seq
MIRT939190	hsa-miR-497	CLIP-seq
MIRT1977844	hsa-miR-765	CLIP-seq
MIRT939160	hsa-miR-1	CLIP-seq
MIRT939161	hsa-miR-103a	CLIP-seq
MIRT939163	hsa-miR-148a	CLIP-seq
MIRT939164	hsa-miR-148b	CLIP-seq
MIRT939165	hsa-miR-152	CLIP-seq
MIRT939166	hsa-miR-15a	CLIP-seq
MIRT939167	hsa-miR-15b	CLIP-seq
MIRT939168	hsa-miR-16	CLIP-seq
MIRT939169	hsa-miR-195	CLIP-seq
MIRT939170	hsa-miR-206	CLIP-seq
MIRT2213175	hsa-miR-3144-5p	CLIP-seq
MIRT2213176	hsa-miR-3191	CLIP-seq
MIRT939174	hsa-miR-324-5p	CLIP-seq
MIRT939175	hsa-miR-424	CLIP-seq
MIRT939176	hsa-miR-4264	CLIP-seq
MIRT2213177	hsa-miR-4447	CLIP-seq
MIRT2213178	hsa-miR-4472	CLIP-seq
MIRT939181	hsa-miR-4523	CLIP-seq
MIRT2213179	hsa-miR-4652-5p	CLIP-seq
MIRT2213180	hsa-miR-4785	CLIP-seq
MIRT939187	hsa-miR-4797-3p	CLIP-seq
MIRT2213181	hsa-miR-491-5p	CLIP-seq
MIRT939190	hsa-miR-497	CLIP-seq
MIRT939193	hsa-miR-613	CLIP-seq
MIRT939194	hsa-miR-615-5p	CLIP-seq
MIRT939161	hsa-miR-103a	CLIP-seq
MIRT939166	hsa-miR-15a	CLIP-seq
MIRT939167	hsa-miR-15b	CLIP-seq
MIRT939168	hsa-miR-16	CLIP-seq
MIRT939169	hsa-miR-195	CLIP-seq
MIRT939175	hsa-miR-424	CLIP-seq
MIRT939190	hsa-miR-497	CLIP-seq
MIRT939166	hsa-miR-15a	CLIP-seq
MIRT939167	hsa-miR-15b	CLIP-seq
MIRT939168	hsa-miR-16	CLIP-seq
MIRT939169	hsa-miR-195	CLIP-seq
MIRT939175	hsa-miR-424	CLIP-seq
MIRT939190	hsa-miR-497	CLIP-seq
MIRT939166	hsa-miR-15a	CLIP-seq
MIRT939167	hsa-miR-15b	CLIP-seq
MIRT939168	hsa-miR-16	CLIP-seq
MIRT939169	hsa-miR-195	CLIP-seq
MIRT939175	hsa-miR-424	CLIP-seq
MIRT939190	hsa-miR-497	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CTCF	Unknown	11479593
SPEN	Activation	21637295

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0002028	Process	Regulation of sodium ion transport	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	10913253, 11287000
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	15598648, 21949239, 32814053
GO:0005524	Function	ATP binding	IDA	10913253
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	15684391
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0006468	Process	Protein phosphorylation	IDA	10913253, 11287000
GO:0006874	Process	Intracellular calcium ion homeostasis	IBA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	ISS
GO:0006998	Process	Nuclear envelope organization	IBA
GO:0006998	Process	Nuclear envelope organization	IEA
GO:0006998	Process	Nuclear envelope organization	IMP	21949239
GO:0008016	Process	Regulation of heart contraction	IBA
GO:0008016	Process	Regulation of heart contraction	IDA	15598648
GO:0008016	Process	Regulation of heart contraction	IEA
GO:0010657	Process	Muscle cell apoptotic process	IDA	18729234
GO:0010830	Process	Regulation of myotube differentiation	IEA
GO:0010830	Process	Regulation of myotube differentiation	ISS
GO:0014722	Process	Regulation of skeletal muscle contraction by calcium ion signaling	IBA
GO:0014722	Process	Regulation of skeletal muscle contraction by calcium ion signaling	IEA
GO:0014853	Process	Regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0017020	Function	Myosin phosphatase regulator activity	IDA	11287000
GO:0031965	Component	Nuclear membrane	ISS
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	IEA
GO:0033017	Component	Sarcoplasmic reticulum membrane	ISS
GO:0033017	Component	Sarcoplasmic reticulum membrane	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0051823	Process	Regulation of synapse structural plasticity	IEA
GO:0106310	Function	Protein serine kinase activity	IEA

Other IDs

• MIM: 605377
• HGNC: 2933
• e!Ensembl: ENSG00000104936

Protein

• UniProt ID: Q09013
• Protein name: Myotonin-protein kinase (MT-PK) (EC 2.7.11.1) (DM-kinase) (DMK) (DM1 protein kinase) (DMPK) (Myotonic dystrophy protein kinase)
• Protein function: Non-receptor serine/threonine protein kinase which is necessary for the maintenance of skeletal muscle structure and function. May play a role in myocyte differentiation and survival by regulating the integrity of the nuclear envelope and the ex
• PDB: 1WT6, 2VD5
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	71 → 339	Protein kinase domain	Domain
  PF08826	DMPK_coil	470 → 530	DMPK coiled coil domain like	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Most isoforms are expressed in many tissues including heart, skeletal muscle, liver and brain, except for isoform 2 which is only found in the heart and skeletal muscle, and isoform 14 which is only found in the brain, with high levels
• Sequence:

  MSAEVRLRRLQQLVLDPGFLGLEPLLDLLLGVHQELGASELAQDKYVADFLQWAEPIVVR
  LKEVRLQRDDFEILKVIGRGAFSEVAVVKMKQTGQVYAMKIMNKWDMLKRGEVSCFREER
  DVLVNGDRRWITQLHFAFQDENYLYLVMEYYVGGDLLTLLSKFGERIPAEMARFYLAEIV
  MAIDSVHRLGYVHRDIKPDNILLDRCGHIRLADFGSCLKLRADGTVRSLVAVGTPDYLSP
  EILQAVGGGPGTGSYGPECDWWALGVFAYEMFYGQTPFYADSTAETYGKIVHYKEHLSLP
  LVDEGVPEEARDFIQRLLCPPETRLGRGGAGDFRTHPFFFGLDWDGLRDSVPPFTPDFEG
  ATDTCNFDLVEDGLTAMVSGGGETLSDIREGAPLGVHLPFVGYSYSCMALRDSEVPGPTP
  MELEAEQLLEPHVQAPSLEPSVSPQDETAEVAVPAAVPAAEAEAEVTLRELQEALEEEVL
  TRQSLSREMEAIRTDNQNFASQLREAEARNRDLEAHVRQLQERMELLQAEGATAVTGVPS
  PRATDPPSHLDGPPAVAVGQCPLVGPGPMHRRHLLLPARVPRPGLSEALSLLLFAVVLSR
  AAALGCIGLVAHAGQLTAVWRRPGAARAP

• Sequence length: 629

Pathways

Reactome:

Ion homeostasis

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BETHLEM MYOPATHY 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Catecholaminergic polymorphic ventricular tachycardia 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHILDHOOD-ONSET STEINERT MYOTONIC DYSTROPHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL-ONSET STEINERT MYOTONIC DYSTROPHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DMPK-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myotonic dystrophy	Likely benign; Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOTONIC DYSTROPHY 1	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOTONIC DYSTROPHY TYPE 1	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noonan syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Steinert myotonic dystrophy syndrome	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	16401743		★☆☆☆☆ Found in Text Mining only
Adrenomyeloneuropathy	Adrenomyeloneuropathy	BEFREE	16401743		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	27182706	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	17652903		★☆☆☆☆ Found in Text Mining only
Atrophy of testis	Testicular atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	32717741	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	15284213		★☆☆☆☆ Found in Text Mining only
Basal Cell Nevus Syndrome	Basal Cell Neoplasm	BEFREE	14726854		★☆☆☆☆ Found in Text Mining only
Bulbo-Spinal Atrophy, X-Linked	Bulbospinal Atrophy, X-Linked	BEFREE	15116379		★☆☆☆☆ Found in Text Mining only
Cardiac defects	Cardiac Defects	BEFREE	27522499		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	20074967, 29648621		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	27182706	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	23349452	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	10434869	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	11726559, 17146587, 9949207		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	BEFREE	24366529		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	19846120		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, X-linked, 1	Charcot-Marie-Tooth disease	BEFREE	20443038		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	30997488		★☆☆☆☆ Found in Text Mining only
Congenital Fiber Type Disproportion	Congenital myopathy with fiber type disproportion	BEFREE	20179953		★☆☆☆☆ Found in Text Mining only
Congenital Myotonic Dystrophy	Congenital Myotonic Dystrophy	BEFREE	12598332, 20179953, 20360842, 31326502, 8930628, 9258965		★☆☆☆☆ Found in Text Mining only
Congenital Myotonic Dystrophy	Congenital Myotonic Dystrophy	CTD_human_DG	24039817		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	29648621		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	9684730		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10189221, 10454725, 11013451, 16193250, 17728322, 7726160, 7896884, 9684730		★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	BEFREE	27522499		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	21868014	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	10665666, 15019706, 15652222, 20458885, 22643181, 23570879, 24882752		★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	CTD_human_DG	24039817		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	23430686		★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
First degree atrioventricular block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	24940801		★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	28886202, 30025114		★☆☆☆☆ Found in Text Mining only
Generalized Myotonia of Thomsen	Congenital myotonia	BEFREE	26036855		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	19321466	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	25958258	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	29648621		★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	17652903	Associate	★☆☆☆☆ Found in Text Mining only
Hernia of abdominal wall	Hernia Of Abdominal Wall	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Secondary	Hyperparathyroidism	BEFREE	29724589		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	15317754, 8673131		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	15317754		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	15317754, 8673131		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	BEFREE	12630069, 8077624		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	LHGDN	18228241		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	19713033		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	19482024		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30760283		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	19184181		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	10976074, 15773664, 8930628, 9094985		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	19321466	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	15317754, 17145685, 8673131, 8673132, 9490778		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	15317754		★☆☆☆☆ Found in Text Mining only
Myotonia	Myotonia	Pubtator	33682722	Associate	★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia Congenita	BEFREE	26036855		★☆☆☆☆ Found in Text Mining only
Myotonic Disorders	Myotonic Disorders	BEFREE	9829272		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	BEFREE	10063831, 10189221, 10332033, 10399747, 10454725, 10480373, 10484765, 10665666, 10699184, 10701856, 10711986, 10733240, 10767343, 10911990, 10951446, 10958655, 10970838, 10976074, 11001736, 11064921, 11343809, 11479593, 11527424, 11528389, 11592825, 11595515, 11726559, 11793472, 11903110, 12150906, 12240714, 12325072, 12598332, 12630069, 12704419, 12718910, 12784291, 12970845, 1302022, 1407566, 14627806, 14678805, 14701736, 14722159, 14734627, 15019706, 15114529, 15185171, 15496431, 15576360, 15703191, 15704146, 15740580, 15773664, 15972723, 16193250, 16376058, 16391559, 16776586, 16876389, 16978612, 17145685, 17487865, 17877752, 17950578, 18053720, 18559347, 18611984, 18648326, 18974556, 19172994, 19184181, 19482024, 19715468, 20051426, 20228473, 20431600, 20801043, 20939737, 21186365, 21326039, 21550396, 21794030, 21971425, 22062891, 22156369, 22427994, 22619053, 22790975, 22995693, 23139243, 23166299, 23166594, 23209425, 23308382, 23680132, 23811192, 23853500, 23901116, 24354850, 24781112, 24792155, 24882752, 25476247, 25753670, 26036855, 26330536, 26339785, 26708183, 26756355, 26824521, 27030674, 27222292, 28211918, 28257691, 28369518, 28435090, 28624222, 28780071, 28810563, 28886202, 28942489, 29274549, 29289451, 29381654, 29592894, 29803895, 30025114, 30216892, 30274788, 30281408, 30760283, 31048891, 31116797, 31164682, 31220271, 31253581, 31608518, 31786795, 31840338, 7518680, 7590731, 7626046, 7657592, 7726160, 7813083, 8077624, 8128954, 8186700, 8255475, 8288237, 8290046, 8358430, 8401505, 8464127, 8469976, 8499920, 8566943, 8595416, 8608167, 8659513, 8673131, 8784809, 8789448, 8812415, 8835099, 8923304, 8948631, 8988229, 9020847, 9094985, 9120013, 9207102, 9211188, 9350827, 9353981, 9371827, 9401107, 9425239, 9463318, 9490778, 9499472, 9550357, 9604547, 9668171, 9694217, 9776468, 9829272, 9831350, 9836067, 9858828, 9887331, 9949207		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	10434869, 11433021, 12150906, 12718910, 12970845, 14627806, 14730559, 15114529, 15185171, 15489504, 15546872, 15576360, 15722335, 15750273, 16027111, 16376058, 16487687, 17825047, 19321466, 19546810, 20171614, 20228473, 21868014, 21949239, 22218462, 22643181, 23025897, 23159592, 23166594, 23680132, 23853500, 24440524, 24781112, 24824895, 25684273, 25702800, 26036855, 26190529, 26708183, 26756355, 26919350, 27222292, 27253733, 27346000, 27346009, 27733504, 27854230, 27876818, 28257691, 28363916, 28435090, 28886202, 29114849, 29274549, 29334465, 29651162, 29947794, 29955039, 29967337, 30216892, 30274788, 30700578, 30760283, 31010208, 31027145, 31048891, 31116797, 31164682, 31220271, 31227653, 31395669, 31608518, 31759551, 31766224, 31965181, 32074227, 32155193, 32203199, 32287265, 32407311, 32607474, 32645888, 32823742, 33472919, 33530452, 33624941, 33682722, 34114984, 34776509, 34915310, 35741732, 35767654, 36011377, 36099027, 36222125, 36352383, 36767649, 36883684, 37373276, 37638448, 37871474, 38050269, 38270551, 39326259, 39373365, 39383229, 39710066, 40004498, 40113266, 40296143, 7726160, 7896884, 8659513, 8948631, 9094985, 9207101, 9207102, 9463318, 9950368	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myotonic Dystrophy	Myotonic dystrophy	LHGDN	11748308, 11766468, 11768386, 11768387, 12598332, 15017064, 15462191, 15583383, 15722335, 16193250, 16519679, 18228241, 18474935, 18611984		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	12598332	Inhibit	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Myotonic Dystrophy	Myotonic dystrophy	CTD_human_DG	24039817		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	10189221, 10454725, 10711986, 10970838, 11013451, 11527424, 11592825, 11595515, 11726559, 12427866, 12598332, 12630069, 12704419, 14597103, 14734627, 15114529, 15185171, 15546872, 16193250, 16391559, 17146587, 17728322, 17950578, 18559347, 19172994, 19184181, 19482024, 21949239, 23811192, 23853500, 24196578, 24781112, 24792155, 24882752, 26756355, 27030674, 27522499, 27876818, 28257691, 28810563, 29771332, 29947794, 30086404, 31419596, 31479430, 31608518, 7726160, 7896884		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	GENOMICS_ENGLAND_DG	1550167, 26586700, 7825566		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	ORPHANET_DG	23025897		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	10454725, 18563724, 29296234, 31738505		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	30216892		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	10970838, 11592825, 16027111, 16723374, 17549748, 17728322, 20228473, 21259315, 21763392, 23308382, 25684273, 26708183, 27991661, 28886202, 29592894, 30086404, 30760283, 8948631, 9887331		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	24269018, 32717741, 9207101	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	9097959		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28442253		★☆☆☆☆ Found in Text Mining only
Presenile cataract	Presenile Cataract	BEFREE	12630069		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	29547942	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	9535904		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	27182706	Associate	★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Steinert myotonic dystrophy	Steinert Myotonic Dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular Fibrillation	BEFREE	16716318		★☆☆☆☆ Found in Text Mining only