Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	5255
Gene name	Phosphorylase kinase regulatory subunit alpha 1
Gene symbol	PHKA1
Synonyms (NCBI Gene)	PHKA
Chromosome	X
Chromosome location	Xq13.1
Summary	Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both

9 Show/Hide all (9)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852546	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs137852547	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137852548	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs373517016	C>G,T	Pathogenic	Splice donor variant
rs1064794973	T>A	Likely-pathogenic	Splice acceptor variant
rs1256371424	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1556257317	C>A	Likely-pathogenic	Splice acceptor variant
rs1556299510	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1603266754	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

495 Show/Hide all (495)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023317	hsa-miR-122-5p	Microarray	17612493
MIRT027122	hsa-miR-103a-3p	Sequencing	20371350
MIRT027583	hsa-miR-98-5p	Microarray	19088304
MIRT031657	hsa-miR-16-5p	Sequencing	20371350
MIRT052023	hsa-let-7b-5p	CLASH	23622248
MIRT051613	hsa-let-7e-5p	CLASH	23622248
MIRT050362	hsa-miR-25-3p	CLASH	23622248
MIRT042222	hsa-miR-484	CLASH	23622248
MIRT039366	hsa-miR-421	CLASH	23622248
MIRT039113	hsa-miR-769-3p	CLASH	23622248
MIRT031657	hsa-miR-16-5p	HITS-CLIP	21572407
MIRT506194	hsa-miR-15a-5p	HITS-CLIP	21572407
MIRT506193	hsa-miR-195-5p	HITS-CLIP	21572407
MIRT506191	hsa-miR-6838-5p	HITS-CLIP	21572407
MIRT506192	hsa-miR-424-5p	HITS-CLIP	21572407
MIRT506190	hsa-miR-497-5p	HITS-CLIP	21572407
MIRT506189	hsa-miR-15b-5p	HITS-CLIP	21572407
MIRT547136	hsa-miR-5571-5p	HITS-CLIP	21572407
MIRT506188	hsa-miR-32-3p	HITS-CLIP	21572407
MIRT506187	hsa-miR-503-5p	HITS-CLIP	21572407
MIRT506185	hsa-miR-646	HITS-CLIP	21572407
MIRT506186	hsa-miR-4735-5p	HITS-CLIP	21572407
MIRT027122	hsa-miR-103a-3p	HITS-CLIP	21572407
MIRT506184	hsa-miR-107	HITS-CLIP	21572407
MIRT506183	hsa-miR-4524a-5p	HITS-CLIP	21572407
MIRT506182	hsa-miR-4524b-5p	HITS-CLIP	21572407
MIRT506181	hsa-miR-302c-5p	HITS-CLIP	21572407
MIRT707942	hsa-miR-1303	HITS-CLIP	21572407
MIRT506180	hsa-miR-576-5p	HITS-CLIP	21572407
MIRT662935	hsa-miR-8485	HITS-CLIP	23824327
MIRT662934	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT662933	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT662932	hsa-miR-603	HITS-CLIP	23824327
MIRT662931	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT662930	hsa-miR-4719	HITS-CLIP	23824327
MIRT662929	hsa-miR-3941	HITS-CLIP	23824327
MIRT676849	hsa-let-7a-3p	HITS-CLIP	23824327
MIRT676848	hsa-let-7b-3p	HITS-CLIP	23824327
MIRT676847	hsa-let-7f-1-3p	HITS-CLIP	23824327
MIRT676846	hsa-miR-98-3p	HITS-CLIP	23824327
MIRT676845	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT676844	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT676843	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT676842	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT662935	hsa-miR-8485	HITS-CLIP	23824327
MIRT662934	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT662933	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT662932	hsa-miR-603	HITS-CLIP	23824327
MIRT662931	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT674602	hsa-miR-511-3p	HITS-CLIP	23824327
MIRT662930	hsa-miR-4719	HITS-CLIP	23824327
MIRT662929	hsa-miR-3941	HITS-CLIP	23824327
MIRT662935	hsa-miR-8485	HITS-CLIP	23824327
MIRT662934	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT662933	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT662932	hsa-miR-603	HITS-CLIP	23824327
MIRT662931	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT662930	hsa-miR-4719	HITS-CLIP	23824327
MIRT662929	hsa-miR-3941	HITS-CLIP	23824327
MIRT662935	hsa-miR-8485	HITS-CLIP	23824327
MIRT662934	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT662933	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT662932	hsa-miR-603	HITS-CLIP	23824327
MIRT662931	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT662930	hsa-miR-4719	HITS-CLIP	23824327
MIRT662929	hsa-miR-3941	HITS-CLIP	23824327
MIRT031657	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT506194	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT506193	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT506191	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT506192	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT506190	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT506189	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT506188	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT506187	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT506185	hsa-miR-646	PAR-CLIP	20371350
MIRT506186	hsa-miR-4735-5p	PAR-CLIP	20371350
MIRT027122	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT506184	hsa-miR-107	PAR-CLIP	20371350
MIRT506183	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT506182	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT506181	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT506180	hsa-miR-576-5p	PAR-CLIP	20371350
MIRT031657	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT506194	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT506193	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT506191	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT506192	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT506190	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT506189	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT506188	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT506187	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT506185	hsa-miR-646	PAR-CLIP	20371350
MIRT506186	hsa-miR-4735-5p	PAR-CLIP	20371350
MIRT027122	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT506184	hsa-miR-107	PAR-CLIP	20371350
MIRT506183	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT506182	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT506181	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT031657	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT506194	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT506193	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT506191	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT506192	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT506190	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT506189	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT506188	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT506187	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT506185	hsa-miR-646	PAR-CLIP	20371350
MIRT506186	hsa-miR-4735-5p	PAR-CLIP	20371350
MIRT027122	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT506184	hsa-miR-107	PAR-CLIP	20371350
MIRT506183	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT506182	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT506181	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT031657	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT506194	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT506193	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT506191	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT506192	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT506190	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT506189	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT506188	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT506187	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT506185	hsa-miR-646	PAR-CLIP	20371350
MIRT506186	hsa-miR-4735-5p	PAR-CLIP	20371350
MIRT027122	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT506184	hsa-miR-107	PAR-CLIP	20371350
MIRT506183	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT506182	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT506181	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT031657	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT506194	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT506193	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT506191	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT506192	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT506190	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT506189	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT547136	hsa-miR-5571-5p	PAR-CLIP	21572407
MIRT506188	hsa-miR-32-3p	PAR-CLIP	21572407
MIRT506187	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT506185	hsa-miR-646	PAR-CLIP	21572407
MIRT506186	hsa-miR-4735-5p	PAR-CLIP	21572407
MIRT027122	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT506184	hsa-miR-107	PAR-CLIP	21572407
MIRT506183	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT506182	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT506181	hsa-miR-302c-5p	PAR-CLIP	21572407
MIRT506180	hsa-miR-576-5p	PAR-CLIP	21572407
MIRT031657	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT506194	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT506193	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT506191	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT506192	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT506190	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT506189	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT506188	hsa-miR-32-3p	PAR-CLIP	23446348
MIRT506187	hsa-miR-503-5p	PAR-CLIP	23446348
MIRT506185	hsa-miR-646	PAR-CLIP	23446348
MIRT506186	hsa-miR-4735-5p	PAR-CLIP	23446348
MIRT027122	hsa-miR-103a-3p	PAR-CLIP	23446348
MIRT506184	hsa-miR-107	PAR-CLIP	23446348
MIRT506183	hsa-miR-4524a-5p	PAR-CLIP	23446348
MIRT506182	hsa-miR-4524b-5p	PAR-CLIP	23446348
MIRT506181	hsa-miR-302c-5p	PAR-CLIP	23446348
MIRT506180	hsa-miR-576-5p	PAR-CLIP	23446348
MIRT443272	hsa-miR-1272	PAR-CLIP	22100165
MIRT574998	hsa-let-7a-3p	HITS-CLIP	27418678
MIRT574998	hsa-let-7a-3p	HITS-CLIP	27418678
MIRT574998	hsa-let-7a-3p	HITS-CLIP	27418678
MIRT574997	hsa-let-7b-3p	HITS-CLIP	27418678
MIRT574997	hsa-let-7b-3p	HITS-CLIP	27418678
MIRT574997	hsa-let-7b-3p	HITS-CLIP	27418678
MIRT574996	hsa-let-7f-1-3p	HITS-CLIP	27418678
MIRT574996	hsa-let-7f-1-3p	HITS-CLIP	27418678
MIRT574996	hsa-let-7f-1-3p	HITS-CLIP	27418678
MIRT574993	hsa-let-7f-2-3p	HITS-CLIP	27418678
MIRT574993	hsa-let-7f-2-3p	HITS-CLIP	27418678
MIRT574993	hsa-let-7f-2-3p	HITS-CLIP	27418678
MIRT574992	hsa-miR-1185-1-3p	HITS-CLIP	27418678
MIRT574992	hsa-miR-1185-1-3p	HITS-CLIP	27418678
MIRT574992	hsa-miR-1185-1-3p	HITS-CLIP	27418678
MIRT574991	hsa-miR-1185-2-3p	HITS-CLIP	27418678
MIRT574991	hsa-miR-1185-2-3p	HITS-CLIP	27418678
MIRT574991	hsa-miR-1185-2-3p	HITS-CLIP	27418678
MIRT575003	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT575003	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT575003	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT575002	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT575002	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT575002	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT574999	hsa-miR-3941	HITS-CLIP	27418678
MIRT574999	hsa-miR-3941	HITS-CLIP	27418678
MIRT574999	hsa-miR-3941	HITS-CLIP	27418678
MIRT575000	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT575000	hsa-miR-4789-3p	HITS-CLIP	27418678
MIRT574994	hsa-miR-4789-5p	HITS-CLIP	27418678
MIRT574994	hsa-miR-4789-5p	HITS-CLIP	27418678
MIRT574994	hsa-miR-4789-5p	HITS-CLIP	27418678
MIRT575001	hsa-miR-603	HITS-CLIP	27418678
MIRT575001	hsa-miR-603	HITS-CLIP	27418678
MIRT575001	hsa-miR-603	HITS-CLIP	27418678
MIRT575004	hsa-miR-8485	HITS-CLIP	27418678
MIRT575004	hsa-miR-8485	HITS-CLIP	27418678
MIRT575004	hsa-miR-8485	HITS-CLIP	27418678
MIRT574995	hsa-miR-98-3p	HITS-CLIP	27418678
MIRT574995	hsa-miR-98-3p	HITS-CLIP	27418678
MIRT574995	hsa-miR-98-3p	HITS-CLIP	27418678
MIRT031657	hsa-miR-16-5p	HITS-CLIP	21572407
MIRT506194	hsa-miR-15a-5p	HITS-CLIP	21572407
MIRT506193	hsa-miR-195-5p	HITS-CLIP	21572407
MIRT506191	hsa-miR-6838-5p	HITS-CLIP	21572407
MIRT506192	hsa-miR-424-5p	HITS-CLIP	21572407
MIRT506190	hsa-miR-497-5p	HITS-CLIP	21572407
MIRT506189	hsa-miR-15b-5p	HITS-CLIP	21572407
MIRT547136	hsa-miR-5571-5p	HITS-CLIP	21572407
MIRT506188	hsa-miR-32-3p	HITS-CLIP	21572407
MIRT506187	hsa-miR-503-5p	HITS-CLIP	21572407
MIRT506185	hsa-miR-646	HITS-CLIP	21572407
MIRT506186	hsa-miR-4735-5p	HITS-CLIP	21572407
MIRT027122	hsa-miR-103a-3p	HITS-CLIP	21572407
MIRT506184	hsa-miR-107	HITS-CLIP	21572407
MIRT506183	hsa-miR-4524a-5p	HITS-CLIP	21572407
MIRT506182	hsa-miR-4524b-5p	HITS-CLIP	21572407
MIRT506181	hsa-miR-302c-5p	HITS-CLIP	21572407
MIRT707942	hsa-miR-1303	HITS-CLIP	21572407
MIRT506180	hsa-miR-576-5p	HITS-CLIP	21572407
MIRT575004	hsa-miR-8485	HITS-CLIP	23824327
MIRT575003	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT575002	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT575001	hsa-miR-603	HITS-CLIP	23824327
MIRT575000	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT662930	hsa-miR-4719	HITS-CLIP	23824327
MIRT574999	hsa-miR-3941	HITS-CLIP	23824327
MIRT574998	hsa-let-7a-3p	HITS-CLIP	23824327
MIRT574997	hsa-let-7b-3p	HITS-CLIP	23824327
MIRT574996	hsa-let-7f-1-3p	HITS-CLIP	23824327
MIRT574995	hsa-miR-98-3p	HITS-CLIP	23824327
MIRT574994	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT574993	hsa-let-7f-2-3p	HITS-CLIP	23824327
MIRT574992	hsa-miR-1185-1-3p	HITS-CLIP	23824327
MIRT574991	hsa-miR-1185-2-3p	HITS-CLIP	23824327
MIRT575004	hsa-miR-8485	HITS-CLIP	23824327
MIRT575003	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT575002	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT575001	hsa-miR-603	HITS-CLIP	23824327
MIRT575000	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT674602	hsa-miR-511-3p	HITS-CLIP	23824327
MIRT662930	hsa-miR-4719	HITS-CLIP	23824327
MIRT574999	hsa-miR-3941	HITS-CLIP	23824327
MIRT575004	hsa-miR-8485	HITS-CLIP	23824327
MIRT575003	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT575002	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT575001	hsa-miR-603	HITS-CLIP	23824327
MIRT575000	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT662930	hsa-miR-4719	HITS-CLIP	23824327
MIRT574999	hsa-miR-3941	HITS-CLIP	23824327
MIRT575004	hsa-miR-8485	HITS-CLIP	23824327
MIRT575003	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT575002	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT575001	hsa-miR-603	HITS-CLIP	23824327
MIRT575000	hsa-miR-4789-3p	HITS-CLIP	23824327
MIRT662930	hsa-miR-4719	HITS-CLIP	23824327
MIRT574999	hsa-miR-3941	HITS-CLIP	23824327
MIRT031657	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT506194	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT506193	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT506191	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT506192	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT506190	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT506189	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT506188	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT506187	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT506185	hsa-miR-646	PAR-CLIP	20371350
MIRT506186	hsa-miR-4735-5p	PAR-CLIP	20371350
MIRT027122	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT506184	hsa-miR-107	PAR-CLIP	20371350
MIRT506183	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT506182	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT506181	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT506180	hsa-miR-576-5p	PAR-CLIP	20371350
MIRT031657	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT506194	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT506193	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT506191	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT506192	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT506190	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT506189	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT506188	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT506187	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT506185	hsa-miR-646	PAR-CLIP	20371350
MIRT506186	hsa-miR-4735-5p	PAR-CLIP	20371350
MIRT027122	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT506184	hsa-miR-107	PAR-CLIP	20371350
MIRT506183	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT506182	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT506181	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT031657	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT506194	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT506193	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT506191	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT506192	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT506190	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT506189	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT506188	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT506187	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT506185	hsa-miR-646	PAR-CLIP	20371350
MIRT506186	hsa-miR-4735-5p	PAR-CLIP	20371350
MIRT027122	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT506184	hsa-miR-107	PAR-CLIP	20371350
MIRT506183	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT506182	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT506181	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT031657	hsa-miR-16-5p	PAR-CLIP	20371350
MIRT506194	hsa-miR-15a-5p	PAR-CLIP	20371350
MIRT506193	hsa-miR-195-5p	PAR-CLIP	20371350
MIRT506191	hsa-miR-6838-5p	PAR-CLIP	20371350
MIRT506192	hsa-miR-424-5p	PAR-CLIP	20371350
MIRT506190	hsa-miR-497-5p	PAR-CLIP	20371350
MIRT506189	hsa-miR-15b-5p	PAR-CLIP	20371350
MIRT506188	hsa-miR-32-3p	PAR-CLIP	20371350
MIRT506187	hsa-miR-503-5p	PAR-CLIP	20371350
MIRT506185	hsa-miR-646	PAR-CLIP	20371350
MIRT506186	hsa-miR-4735-5p	PAR-CLIP	20371350
MIRT027122	hsa-miR-103a-3p	PAR-CLIP	20371350
MIRT506184	hsa-miR-107	PAR-CLIP	20371350
MIRT506183	hsa-miR-4524a-5p	PAR-CLIP	20371350
MIRT506182	hsa-miR-4524b-5p	PAR-CLIP	20371350
MIRT506181	hsa-miR-302c-5p	PAR-CLIP	20371350
MIRT031657	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT506194	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT506193	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT506191	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT506192	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT506190	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT506189	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT547136	hsa-miR-5571-5p	PAR-CLIP	21572407
MIRT506188	hsa-miR-32-3p	PAR-CLIP	21572407
MIRT506187	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT506185	hsa-miR-646	PAR-CLIP	21572407
MIRT506186	hsa-miR-4735-5p	PAR-CLIP	21572407
MIRT027122	hsa-miR-103a-3p	PAR-CLIP	21572407
MIRT506184	hsa-miR-107	PAR-CLIP	21572407
MIRT506183	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT506182	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT506181	hsa-miR-302c-5p	PAR-CLIP	21572407
MIRT506180	hsa-miR-576-5p	PAR-CLIP	21572407
MIRT031657	hsa-miR-16-5p	PAR-CLIP	23446348
MIRT506194	hsa-miR-15a-5p	PAR-CLIP	23446348
MIRT506193	hsa-miR-195-5p	PAR-CLIP	23446348
MIRT506191	hsa-miR-6838-5p	PAR-CLIP	23446348
MIRT506192	hsa-miR-424-5p	PAR-CLIP	23446348
MIRT506190	hsa-miR-497-5p	PAR-CLIP	23446348
MIRT506189	hsa-miR-15b-5p	PAR-CLIP	23446348
MIRT506188	hsa-miR-32-3p	PAR-CLIP	23446348
MIRT506187	hsa-miR-503-5p	PAR-CLIP	23446348
MIRT506185	hsa-miR-646	PAR-CLIP	23446348
MIRT506186	hsa-miR-4735-5p	PAR-CLIP	23446348
MIRT027122	hsa-miR-103a-3p	PAR-CLIP	23446348
MIRT506184	hsa-miR-107	PAR-CLIP	23446348
MIRT506183	hsa-miR-4524a-5p	PAR-CLIP	23446348
MIRT506182	hsa-miR-4524b-5p	PAR-CLIP	23446348
MIRT506181	hsa-miR-302c-5p	PAR-CLIP	23446348
MIRT506180	hsa-miR-576-5p	PAR-CLIP	23446348
MIRT443272	hsa-miR-1272	PAR-CLIP	22100165
MIRT1231512	hsa-miR-1207-5p	CLIP-seq
MIRT1231513	hsa-miR-122	CLIP-seq
MIRT1231514	hsa-miR-188-5p	CLIP-seq
MIRT1231515	hsa-miR-219-5p	CLIP-seq
MIRT1231516	hsa-miR-2276	CLIP-seq
MIRT1231517	hsa-miR-296-3p	CLIP-seq
MIRT1231518	hsa-miR-3143	CLIP-seq
MIRT1231519	hsa-miR-3163	CLIP-seq
MIRT1231520	hsa-miR-3198	CLIP-seq
MIRT1231521	hsa-miR-3200-5p	CLIP-seq
MIRT1231522	hsa-miR-3973	CLIP-seq
MIRT1231523	hsa-miR-4309	CLIP-seq
MIRT1231524	hsa-miR-4423-3p	CLIP-seq
MIRT1231525	hsa-miR-4528	CLIP-seq
MIRT1231526	hsa-miR-4668-3p	CLIP-seq
MIRT1231527	hsa-miR-4682	CLIP-seq
MIRT1231528	hsa-miR-4704-3p	CLIP-seq
MIRT1231529	hsa-miR-4711-3p	CLIP-seq
MIRT1231530	hsa-miR-4731-3p	CLIP-seq
MIRT1231531	hsa-miR-4763-3p	CLIP-seq
MIRT1231532	hsa-miR-4765	CLIP-seq
MIRT1231533	hsa-miR-4772-3p	CLIP-seq
MIRT1231534	hsa-miR-4782-3p	CLIP-seq
MIRT1231535	hsa-miR-4801	CLIP-seq
MIRT1231536	hsa-miR-486-3p	CLIP-seq
MIRT1231537	hsa-miR-511	CLIP-seq
MIRT1231538	hsa-miR-543	CLIP-seq
MIRT1231539	hsa-miR-544	CLIP-seq
MIRT1231540	hsa-miR-548k	CLIP-seq
MIRT1231541	hsa-miR-664	CLIP-seq
MIRT1231542	hsa-miR-668	CLIP-seq
MIRT1231543	hsa-miR-1236	CLIP-seq
MIRT1231544	hsa-miR-136	CLIP-seq
MIRT1231545	hsa-miR-204	CLIP-seq
MIRT1231546	hsa-miR-211	CLIP-seq
MIRT1231547	hsa-miR-2110	CLIP-seq
MIRT1231548	hsa-miR-219-1-3p	CLIP-seq
MIRT1231515	hsa-miR-219-5p	CLIP-seq
MIRT1231549	hsa-miR-3124-3p	CLIP-seq
MIRT1231550	hsa-miR-3148	CLIP-seq
MIRT1231551	hsa-miR-3150a-3p	CLIP-seq
MIRT1231552	hsa-miR-3183	CLIP-seq
MIRT1231553	hsa-miR-3185	CLIP-seq
MIRT1231521	hsa-miR-3200-5p	CLIP-seq
MIRT1231554	hsa-miR-329	CLIP-seq
MIRT1231555	hsa-miR-3620	CLIP-seq
MIRT1231556	hsa-miR-3653	CLIP-seq
MIRT1231557	hsa-miR-3658	CLIP-seq
MIRT1231558	hsa-miR-3909	CLIP-seq
MIRT1231559	hsa-miR-3942-3p	CLIP-seq
MIRT1231560	hsa-miR-4270	CLIP-seq
MIRT1231561	hsa-miR-4271	CLIP-seq
MIRT1231562	hsa-miR-4314	CLIP-seq
MIRT1231563	hsa-miR-4428	CLIP-seq
MIRT1231564	hsa-miR-4441	CLIP-seq
MIRT1231565	hsa-miR-4446-5p	CLIP-seq
MIRT1231566	hsa-miR-4525	CLIP-seq
MIRT1231525	hsa-miR-4528	CLIP-seq
MIRT1231567	hsa-miR-4645-5p	CLIP-seq
MIRT1231568	hsa-miR-4668-5p	CLIP-seq
MIRT1231569	hsa-miR-4673	CLIP-seq
MIRT1231527	hsa-miR-4682	CLIP-seq
MIRT1231570	hsa-miR-4723-3p	CLIP-seq
MIRT1231571	hsa-miR-4725-3p	CLIP-seq
MIRT1231572	hsa-miR-4742-3p	CLIP-seq
MIRT1231573	hsa-miR-4753-3p	CLIP-seq
MIRT1231574	hsa-miR-4755-5p	CLIP-seq
MIRT1231575	hsa-miR-4773	CLIP-seq
MIRT1231576	hsa-miR-4778-3p	CLIP-seq
MIRT1231577	hsa-miR-4778-5p	CLIP-seq
MIRT1231534	hsa-miR-4782-3p	CLIP-seq
MIRT1231578	hsa-miR-548ae	CLIP-seq
MIRT1231579	hsa-miR-548aj	CLIP-seq
MIRT1231580	hsa-miR-548am	CLIP-seq
MIRT1231581	hsa-miR-548x	CLIP-seq
MIRT1231582	hsa-miR-571	CLIP-seq
MIRT1231583	hsa-miR-592	CLIP-seq
MIRT1231584	hsa-miR-597	CLIP-seq
MIRT1231585	hsa-miR-623	CLIP-seq
MIRT1231586	hsa-miR-630	CLIP-seq
MIRT1231541	hsa-miR-664	CLIP-seq
MIRT1231587	hsa-miR-197	CLIP-seq
MIRT1231588	hsa-miR-3145-3p	CLIP-seq
MIRT1231589	hsa-miR-3166	CLIP-seq
MIRT1231590	hsa-miR-3609	CLIP-seq
MIRT1231591	hsa-miR-3944-5p	CLIP-seq
MIRT1231532	hsa-miR-4765	CLIP-seq
MIRT1231592	hsa-miR-4771	CLIP-seq
MIRT1231593	hsa-miR-4786-5p	CLIP-seq
MIRT1231594	hsa-miR-5096	CLIP-seq
MIRT1231595	hsa-miR-520g	CLIP-seq
MIRT1231596	hsa-miR-520h	CLIP-seq
MIRT1231597	hsa-miR-548ah	CLIP-seq
MIRT1231598	hsa-miR-665	CLIP-seq
MIRT1231512	hsa-miR-1207-5p	CLIP-seq
MIRT1231513	hsa-miR-122	CLIP-seq
MIRT1231543	hsa-miR-1236	CLIP-seq
MIRT2067969	hsa-miR-1302	CLIP-seq
MIRT2067970	hsa-miR-2117	CLIP-seq
MIRT2067971	hsa-miR-2392	CLIP-seq
MIRT1231517	hsa-miR-296-3p	CLIP-seq
MIRT1231520	hsa-miR-3198	CLIP-seq
MIRT2067972	hsa-miR-4298	CLIP-seq
MIRT1231523	hsa-miR-4309	CLIP-seq
MIRT1231524	hsa-miR-4423-3p	CLIP-seq
MIRT2067973	hsa-miR-4533	CLIP-seq
MIRT2067974	hsa-miR-4688	CLIP-seq
MIRT2067975	hsa-miR-4747-5p	CLIP-seq
MIRT1231531	hsa-miR-4763-3p	CLIP-seq
MIRT1231532	hsa-miR-4765	CLIP-seq
MIRT2067976	hsa-miR-4768-5p	CLIP-seq
MIRT1231576	hsa-miR-4778-3p	CLIP-seq
MIRT1231536	hsa-miR-486-3p	CLIP-seq
MIRT2067977	hsa-miR-635	CLIP-seq
MIRT1231554	hsa-miR-329	CLIP-seq
MIRT2456387	hsa-miR-4427	CLIP-seq
MIRT2456388	hsa-miR-628-5p	CLIP-seq
MIRT2592986	hsa-miR-129-3p	CLIP-seq
MIRT1231516	hsa-miR-2276	CLIP-seq
MIRT2592987	hsa-miR-3919	CLIP-seq
MIRT2592988	hsa-miR-4255	CLIP-seq
MIRT2592989	hsa-miR-4708-3p	CLIP-seq
MIRT2592990	hsa-miR-4756-3p	CLIP-seq
MIRT2592991	hsa-miR-4761-5p	CLIP-seq
MIRT1231533	hsa-miR-4772-3p	CLIP-seq
MIRT2592992	hsa-miR-4792	CLIP-seq
MIRT2592993	hsa-miR-539	CLIP-seq
MIRT1231539	hsa-miR-544	CLIP-seq
MIRT2592994	hsa-miR-595	CLIP-seq
MIRT1231542	hsa-miR-668	CLIP-seq

14 Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004689	Function	Phosphorylase kinase activity	IEA
GO:0004689	Function	Phosphorylase kinase activity	TAS	8226841
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005964	Component	Phosphorylase kinase complex	IBA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	TAS	7874115
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	7874115
GO:0016020	Component	Membrane	IEA
GO:0045819	Process	Positive regulation of glycogen catabolic process	IMP	33799212

MIM	HGNC	e!Ensembl
311870	8925	ENSG00000067177

P46020

Protein name

Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform (Phosphorylase kinase alpha M subunit)

Protein function

Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.

PDB

8JFK , 8JFL , 8XY7 , 8XYA , 8XYB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00723	Glyco_hydro_15	8 → 922	Glycosyl hydrolases family 15	Domain

Tissue specificity

TISSUE SPECIFICITY: Muscle specific. Isoform 1 is predominant in vastus lateralis muscle. Isoform 2 predominates slightly in heart, and it predominates clearly in the other tissues tested.

Sequence

MRSRSNSGVRLDGYARLVQQTILCHQNPVTGLLPASYDQKDAWVRDNVYSILAVWGLGLA
YRKNADRDEDKAKAYELEQSVVKLMRGLLHCMIRQVDKVESFKYSQSTKDSLHAKYNTKT
CATVVGDDQWGHLQLDATSVYLLFLAQMTASGLHIIHSLDEVNFIQNLVFYIEAAYKTAD
FGIWERGDKTNQGISELNASSVGMAKAALEALDELDLFGVKGGPQSVIHVLADEVQHCQS
ILNSLLPRASTSKEVDASLLSVVSFPAFAVEDSQLVELTKQEIITKLQGRYGCCRFLRDG
YKTPKEDPNRLYYEPAELKLFENIECEWPLFWTYFILDGVFSGNAEQVQEYKEALEAVLI
KGKNGVPLLPELYSVPPDRVDEEYQNPHTVDRVPMGKLPHMWGQSLYILGSLMAEGFLAP
GEIDPLNRRFSTVPKPDVVVQVSILAETEEIKTILKDKGIYVETIAEVYPIRVQPARILS
HIYSSLGCNNRMKLSGRPYRHMGVLGTSKLYDIRKTIFTFTPQFIDQQQFYLALDNKMIV
EMLRTDLSYLCSRWRMTGQPTITFPISHSMLDEDGTSLNSSILAALRKMQDGYFGGARVQ
TGKLSEFLTTSCCTHLSFMDPGPEGKLYSEDYDDNYDYLESGNWMNDYDSTSHARCGDEV
ARYLDHLLAHTAPHPKLAPTSQKGGLDRFQAAVQTTCDLMSLVTKAKELHVQNVHMYLPT
KLFQASRPSFNLLDSPHPRQENQVPSVRVEIHLPRDQSGEVDFKALVLQLKETSSLQEQA
DILYMLYTMKGPDWNTELYNERSATVRELLTELYGKVGEIRHWGLIRYISGILRKKVEAL
DEACTDLLSHQKHLTVGLPPEPREKTISAPLPYEALTQLIDEASEGDMSISILTQEIMVY
LAMYMRTQPGLFAEMFRLRIGLIIQVMATELAHSLRCSAEEATEGLMNLSPSAMKNLLHH
ILSGKEFGVERSVRPTDSNVSPAISIHEIGAVGATKTERTGIMQLKSEIKQVEFRRLSIS
AESQSPGTSMTPSSGSFPSAYDQQSSKDSRQGQWQRRRRLDGALNRVPVGFYQKVWKVLQ
KCHGLSVEGFVLPSSTTREMTPGEIKFSVHVESVLNRVPQPEYRQLLVEAILVLTMLADI
EIHSIGSIIAVEKIVHIANDLFLQEQKTLGADDTMLAKDPASGICTLLYDSAPSGRFGTM
TYLSKAAATYVQEFLPHSICAMQ

Sequence length

1223

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Calcium signaling pathway	Glycogen breakdown (glycogenolysis)
Insulin signaling pathway
Glucagon signaling pathway

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Glycogen phosphorylase kinase deficiency	Likely pathogenic; Pathogenic	rs373517016, rs1256371424, rs1556257317	RCV003317255 RCV003317349 RCV002509551	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease IXd	Pathogenic; Likely pathogenic	rs2052776972, rs1197978742, rs2147779873, rs1157788242, rs2147766482, rs2147781328, rs2147747770, rs2522445049, rs2522850255, rs137852546, rs2522306478, rs137852547, rs1603266754, rs137852548, rs2522421362 View all (9 more)	RCV001335961 RCV005635184 RCV001928354 RCV001876720 RCV002249127 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PHKA1-related disorder	Likely pathogenic	rs781902994	RCV003979325	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs137852546, rs373517016, rs782062618	RCV005887413 RCV005901203 RCV005909312	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (11)
Adrenocortical carcinoma, hereditary	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHORYLASE KINASE DEFICIENCY	—	Orphanet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE, TYPE IX	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE, TYPE IXD	—	CTD, Disgenet CTD, Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral neuropathy	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Spinocerebellar ataxia, X-linked	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (13)
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	1674721, 24326380		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease	Glycogen storage disease	Pubtator	22899091, 30659246	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen storage disease due to muscle phosphorylase kinase deficiency	Glycogen Storage Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type IXD	Glycogen storage disease	Pubtator	34615823	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen storage disease, type IX	Glycogen Storage Disease	BEFREE	15637709, 20080404, 24326380		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease, Type IXD	Glycogen Storage Disease	UNIPROT_DG	12825073		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease, Type IXD	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	15637709, 27604308, 7874115		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease, Type IXD	Glycogen Storage Disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease, Type IXD	Glycogen Storage Disease	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease, Type IXD	Glycogen Storage Disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	39923231	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	15637709		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	39940742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PHKB	2	["Glycogen phosphorylase kinase deficiency","Glycogen storage disease"]	4	["Calcium signaling pathway","Insulin signaling pathway","Glucagon signaling pathway","Glycogen breakdown (glycogenolysis)"]	7	["ClinVar (Glycogen phosphorylase kinase deficiency)","Disgenet (Glycogen storage disease)","CTD (Glycogen storage disease)","HPO (Glycogen storage disease)","Orphanet (Glycogen storage disease)","ClinVar (Glycogen storage disease)","ClinGen (Glycogen storage disease)"]
PHKA2	2	["Glycogen phosphorylase kinase deficiency","Glycogen storage disease"]	4	["Calcium signaling pathway","Insulin signaling pathway","Glucagon signaling pathway","Glycogen breakdown (glycogenolysis)"]	6	["ClinVar (Glycogen phosphorylase kinase deficiency)","Disgenet (Glycogen storage disease)","CTD (Glycogen storage disease)","HPO (Glycogen storage disease)","Orphanet (Glycogen storage disease)","ClinVar (Glycogen storage disease)"]
PHKG2	2	["Glycogen phosphorylase kinase deficiency","Glycogen storage disease"]	4	["Calcium signaling pathway","Insulin signaling pathway","Glucagon signaling pathway","Glycogen breakdown (glycogenolysis)"]	7	["ClinVar (Glycogen phosphorylase kinase deficiency)","Disgenet (Glycogen storage disease)","CTD (Glycogen storage disease)","HPO (Glycogen storage disease)","Orphanet (Glycogen storage disease)","ClinVar (Glycogen storage disease)","ClinGen (Glycogen storage disease)"]
PYGL	1	["Glycogen storage disease"]	3	["Insulin signaling pathway","Glucagon signaling pathway","Glycogen breakdown (glycogenolysis)"]	6	["Disgenet (Glycogen storage disease)","CTD (Glycogen storage disease)","HPO (Glycogen storage disease)","Orphanet (Glycogen storage disease)","ClinVar (Glycogen storage disease)","ClinGen (Glycogen storage disease)"]
PYGM	1	["Glycogen storage disease"]	3	["Insulin signaling pathway","Glucagon signaling pathway","Glycogen breakdown (glycogenolysis)"]	6	["Disgenet (Glycogen storage disease)","CTD (Glycogen storage disease)","HPO (Glycogen storage disease)","Orphanet (Glycogen storage disease)","ClinVar (Glycogen storage disease)","ClinGen (Glycogen storage disease)"]

PHKA1 (phosphorylase kinase regulatory subunit alpha 1)

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