Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	5256
Gene name	Phosphorylase kinase regulatory subunit alpha 2
Gene symbol	PHKA2
Synonyms (NCBI Gene)	GSD9APHKPYKPYKLXLGXLG2
Chromosome	X
Chromosome location	Xp22.13
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 hepatic isoform is encoded by this gene. The beta subunit is the same in both the mus

41 Show/Hide all (41)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852285	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs137852286	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs137852287	G>A,T	Pathogenic	Stop gained, missense variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs137852289	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs137852290	C>T	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs137852291	T>G	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant
rs137852292	G>A	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant
rs137852294	G>A	Pathogenic, likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs137852295	T>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, genic upstream transcript variant
rs587776731	C>A	Pathogenic	Splice donor variant, genic upstream transcript variant, intron variant
rs587776732	AGA>-	Pathogenic	5 prime UTR variant, inframe deletion, non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant
rs587776733	TCG>-	Pathogenic	5 prime UTR variant, inframe deletion, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant
rs797044877	C>A,T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs797045008	G>A	Likely-pathogenic	Synonymous variant, non coding transcript variant, missense variant, 5 prime UTR variant, coding sequence variant
rs886041795	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs886041985	AG>GGCTCCGTGCCAT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1210626722	C>G,T	Likely-pathogenic	Splice donor variant
rs1555989523	CCT>-	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, inframe deletion, coding sequence variant, downstream transcript variant
rs1555995635	->A	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555995689	G>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1556000892	GTTCCCTAATTTTACTCTGCCAAGAAG>-	Pathogenic	Intron variant, non coding transcript variant, splice acceptor variant, coding sequence variant
rs1556002344	C>T	Likely-pathogenic	Splice donor variant
rs1556007472	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1556014969	A>G	Likely-pathogenic	Intron variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs1556016365	C>G	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, 5 prime UTR variant
rs1569297379	GCTCCGTGGCC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569297427	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569298646	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569300538	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1569310542	T>C	Likely-pathogenic	Splice acceptor variant
rs1601714299	->A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1601739229	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1601747985	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1601748177	->C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1601748216	T>C	Pathogenic	Splice acceptor variant
rs1601760689	C>T	Pathogenic	Splice donor variant
rs1601763099	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant, upstream transcript variant
rs1601776276	AGAGAGGTGGCATCC>GGCCAGGA	Likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant, intron variant, genic upstream transcript variant, non coding transcript variant
rs1601776523	AGTG>-	Pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant
rs1601780766	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, non coding transcript variant
rs1601781031	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, 5 prime UTR variant, genic upstream transcript variant, non coding transcript variant, missense variant

69 Show/Hide all (69)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030297	hsa-miR-26b-5p	Microarray	19088304
MIRT045484	hsa-miR-149-5p	CLASH	23622248
MIRT1231599	hsa-miR-136	CLIP-seq
MIRT1231600	hsa-miR-183	CLIP-seq
MIRT1231601	hsa-miR-185	CLIP-seq
MIRT1231602	hsa-miR-218	CLIP-seq
MIRT1231603	hsa-miR-221	CLIP-seq
MIRT1231604	hsa-miR-222	CLIP-seq
MIRT1231605	hsa-miR-3120-3p	CLIP-seq
MIRT1231606	hsa-miR-3127-5p	CLIP-seq
MIRT1231607	hsa-miR-3143	CLIP-seq
MIRT1231608	hsa-miR-365	CLIP-seq
MIRT1231609	hsa-miR-3659	CLIP-seq
MIRT1231610	hsa-miR-4278	CLIP-seq
MIRT1231611	hsa-miR-4306	CLIP-seq
MIRT1231612	hsa-miR-4313	CLIP-seq
MIRT1231613	hsa-miR-4317	CLIP-seq
MIRT1231614	hsa-miR-4328	CLIP-seq
MIRT1231615	hsa-miR-4461	CLIP-seq
MIRT1231616	hsa-miR-4644	CLIP-seq
MIRT1231617	hsa-miR-4691-5p	CLIP-seq
MIRT1231618	hsa-miR-4693-3p	CLIP-seq
MIRT1231619	hsa-miR-4716-3p	CLIP-seq
MIRT1231620	hsa-miR-4740-3p	CLIP-seq
MIRT1231621	hsa-miR-4786-5p	CLIP-seq
MIRT1231622	hsa-miR-4803	CLIP-seq
MIRT1231623	hsa-miR-499-3p	CLIP-seq
MIRT1231624	hsa-miR-499a-3p	CLIP-seq
MIRT1231625	hsa-miR-542-3p	CLIP-seq
MIRT1231626	hsa-miR-545	CLIP-seq
MIRT1231627	hsa-miR-548v	CLIP-seq
MIRT1231628	hsa-miR-574-5p	CLIP-seq
MIRT1231629	hsa-miR-628-5p	CLIP-seq
MIRT1231630	hsa-miR-759	CLIP-seq
MIRT1922915	hsa-miR-4777-5p	CLIP-seq
MIRT1922916	hsa-miR-511	CLIP-seq
MIRT1922917	hsa-miR-518d-5p	CLIP-seq
MIRT1922918	hsa-miR-519b-5p	CLIP-seq
MIRT1922919	hsa-miR-519c-5p	CLIP-seq
MIRT1922920	hsa-miR-520c-5p	CLIP-seq
MIRT1922921	hsa-miR-526a	CLIP-seq
MIRT2067978	hsa-miR-1291	CLIP-seq
MIRT2067979	hsa-miR-1914	CLIP-seq
MIRT1231603	hsa-miR-221	CLIP-seq
MIRT1231604	hsa-miR-222	CLIP-seq
MIRT1231605	hsa-miR-3120-3p	CLIP-seq
MIRT2067980	hsa-miR-3180-5p	CLIP-seq
MIRT2067981	hsa-miR-324-5p	CLIP-seq
MIRT2067982	hsa-miR-328	CLIP-seq
MIRT2067983	hsa-miR-3611	CLIP-seq
MIRT2067984	hsa-miR-3922-5p	CLIP-seq
MIRT2067985	hsa-miR-4459	CLIP-seq
MIRT1231615	hsa-miR-4461	CLIP-seq
MIRT2067986	hsa-miR-4632	CLIP-seq
MIRT1231618	hsa-miR-4693-3p	CLIP-seq
MIRT2067987	hsa-miR-4709-3p	CLIP-seq
MIRT2067988	hsa-miR-4793-5p	CLIP-seq
MIRT1231623	hsa-miR-499-3p	CLIP-seq
MIRT1231624	hsa-miR-499a-3p	CLIP-seq
MIRT2067989	hsa-miR-520a-5p	CLIP-seq
MIRT2067990	hsa-miR-525-5p	CLIP-seq
MIRT1231625	hsa-miR-542-3p	CLIP-seq
MIRT1231626	hsa-miR-545	CLIP-seq
MIRT1231627	hsa-miR-548v	CLIP-seq
MIRT1231628	hsa-miR-574-5p	CLIP-seq
MIRT2067991	hsa-miR-663b	CLIP-seq
MIRT2295424	hsa-miR-124	CLIP-seq
MIRT2067987	hsa-miR-4709-3p	CLIP-seq
MIRT2295425	hsa-miR-506	CLIP-seq

16 Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004689	Function	Phosphorylase kinase activity	IEA
GO:0004689	Function	Phosphorylase kinase activity	TAS	7549948
GO:0005515	Function	Protein binding	IPI	23455922, 26496610, 28514442, 32296183, 32707033, 32814053, 33961781, 35271311
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:0005964	Component	Phosphorylase kinase complex	IEA
GO:0005964	Component	Phosphorylase kinase complex	TAS	7549948
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005975	Process	Carbohydrate metabolic process	TAS	7549948
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	7549948
GO:0016020	Component	Membrane	IEA
GO:0036211	Process	Protein modification process	TAS	7549948

MIM	HGNC	e!Ensembl
300798	8926	ENSG00000044446

P46019

Protein name

Phosphorylase b kinase regulatory subunit alpha, liver isoform (Phosphorylase kinase alpha L subunit)

Protein function

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00723	Glyco_hydro_15	8 → 919	Glycosyl hydrolases family 15	Domain

Tissue specificity

TISSUE SPECIFICITY: Predominantly expressed in liver and other non-muscle tissues.

Sequence

MRSRSNSGVRLDGYARLVQQTILCYQNPVTGLLSASHEQKDAWVRDNIYSILAVWGLGMA
YRKNADRDEDKAKAYELEQNVVKLMRGLLQCMMRQVAKVEKFKHTQSTKDSLHAKYNTAT
CGTVVGDDQWGHLQVDATSLFLLFLAQMTASGLRIIFTLDEVAFIQNLVFYIEAAYKVAD
YGMWERGDKTNQGIPELNASSVGMAKAALEAIDELDLFGAHGGRKSVIHVLPDEVEHCQS
ILFSMLPRASTSKEIDAGLLSIISFPAFAVEDVNLVNVTKNEIISKLQGRYGCCRFLRDG
YKTPREDPNRLHYDPAELKLFENIECEWPVFWTYFIIDGVFSGDAVQVQEYREALEGILI
RGKNGIRLVPELYAVPPNKVDEEYKNPHTVDRVPMGKVPHLWGQSLYILSSLLAEGFLAA
GEIDPLNRRFSTSVKPDVVVQVTVLAENNHIKDLLRKHGVNVQSIADIHPIQVQPGRILS
HIYAKLGRNKNMNLSGRPYRHIGVLGTSKLYVIRNQIFTFTPQFTDQHHFYLALDNEMIV
EMLRIELAYLCTCWRMTGRPTLTFPISRTMLTNDGSDIHSAVLSTIRKLEDGYFGGARVK
LGNLSEFLTTSFYTYLTFLDPDCDEKLFDNASEGTFSPDSDSDLVGYLEDTCNQESQDEL
DHYINHLLQSTSLRSYLPPLCKNTEDRHVFSAIHSTRDILSVMAKAKGLEVPFVPMTLPT
KVLSAHRKSLNLVDSPQPLLEKVPESDFQWPRDDHGDVDCEKLVEQLKDCSNLQDQADIL
YILYVIKGPSWDTNLSGQHGVTVQNLLGELYGKAGLNQEWGLIRYISGLLRKKVEVLAEA
CTDLLSHQKQLTVGLPPEPREKIISAPLPPEELTKLIYEASGQDISIAVLTQEIVVYLAM
YVRAQPSLFVEMLRLRIGLIIQVMATELARSLNCSGEEASESLMNLSPFDMKNLLHHILS
GKEFGVERSVRPIHSSTSSPTISIHEVGHTGVTKTERSGINRLRSEMKQMTRRFSADEQF
FSVGQAASSSAHSSKSARSSTPSSPTGTSSSDSGGHHIGWGERQGQWLRRRRLDGAINRV
PVGFYQRVWKILQKCHGLSIDGYVLPSSTTREMTPHEIKFAVHVESVLNRVPQPEYRQLL
VEAIMVLTLLSDTEMTSIGGIIHVDQIVQMASQLFLQDQVSIGAMDTLEKDQATGICHFF
YDSAPSGAYGTMTYLTRAVASYLQELLPNSGCQMQ

Sequence length

1235

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 Show/Hide Causal Diseases (11)
Aland island eye disease	Pathogenic	rs2147807115	RCV001526564	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic	rs587776731	RCV005927107	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen phosphorylase kinase deficiency	Likely pathogenic; Pathogenic	rs140014925, rs777137574, rs797045008	RCV003230658 RCV002271816 RCV004767127	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease	Likely pathogenic; Pathogenic	rs137852288	RCV005865177	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease IXa1	Pathogenic; Likely pathogenic	rs1359540820, rs140014925, rs2047487518, rs2148058081, rs2147806873, rs2147859879, rs768063119, rs2147991282, rs2147954334, rs2147859144, rs2147855177, rs2147972085, rs2147946477, rs2147954328, rs137852290 View all (67 more)	RCV001327258 RCV001312531 RCV001329781 RCV001379104 RCV001383641 View all (79 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease IXa2	Pathogenic; Likely pathogenic	rs137852293, rs137852290, rs137852291, rs137852292, rs137852294, rs587776733, rs2147806786, rs137852295	RCV000011279 RCV000011281 RCV000011282 RCV000011283 RCV000011284 RCV000011285 RCV000011286 RCV000011287 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease IXd	Likely pathogenic; Pathogenic	rs797044877	RCV003328098	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Increased hepatic glycogen content	Likely pathogenic; Pathogenic	rs1601760689	RCV003127491	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs137852289, rs2518543955	RCV005887428 RCV005931507	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PHKA2-related disorder	Likely pathogenic; Pathogenic	rs140014925, rs1569300538, rs1601748177	RCV004754725 RCV004731015 RCV003898030	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2147954328, rs587776731, rs1555988479, rs1601747985	RCV005930052 RCV005887427 RCV005900120 RCV005906947	★★★★★ ★★★★☆ 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 (19)
Abnormality of neuronal migration	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic developmental and epileptic encephalopathy	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY	—	GenCC, Orphanet GenCC, Orphanet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE TYPE IXC	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE, TYPE IX	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE, TYPE IXA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE, TYPE IXA2	—	Disgenet	27604308	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR ALBINISM, TYPE II	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	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 (45)
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital Nonspherocytic	Hemolytic anemia	Pubtator	16540430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33540684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	17052347	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28934129	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dimauro disease	Dimauro disease	Pubtator	32772503	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23028188	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	27103379, 28627441, 31725618		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	10987651, 12862311, 1372435, 17581768, 28627441, 7959740, 8733134, 9384616, 9600238, 9835437		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease	Glycogen Storage Disease	LHGDN	12862311, 17581768		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease	Glycogen storage disease	Pubtator	22899091, 30659246, 38192425	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease	Glycogen Storage Disease	CTD_human_DG	7711737		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease due to liver phosphorylase kinase deficiency	Glycogen Storage Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE IXa1	Glycogen Storage Disease	UNIPROT_DG	10330341, 17689125, 7549948, 7847371, 8733133, 8733134, 9600238		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLYCOGEN STORAGE DISEASE IXa1	Glycogen Storage Disease	CLINVAR_DG	10330341, 12862311, 17689125, 21646031, 21911307, 22899091, 23578772, 24055370, 25070466, 25266922, 27103379, 28468868, 28600779, 28627441, 7711737 View all (5 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLYCOGEN STORAGE DISEASE IXa1	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GLYCOGEN STORAGE DISEASE IXa1	Glycogen Storage Disease	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease IXC	Glycogen Storage Disease	ORPHANET_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type I	Glycogen Storage Disease	BEFREE	10330341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	27103379, 38192425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type Ix	Glycogen storage disease	Pubtator	12862311, 34117828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type VI	Glycogen storage disease	Pubtator	33317799	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen storage disease, type IX	Glycogen Storage Disease	BEFREE	12862311, 17581768, 18950708, 21131218, 21911307, 24326380, 27103379, 28085675, 7711737, 7959740, 8733134		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease, Type IXA2	Glycogen Storage Disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gross motor development delay	Developmental delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	27103379, 34117828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type II	Hyperlipoproteinemia	Pubtator	12862311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	34117828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemic seizures	Hypoglycemic seizures	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30708038		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ 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)"]	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)","GenCC (Glycogen storage disease)","Orphanet (Glycogen storage disease)","ClinVar (Glycogen storage disease)"]
PHKA1	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)"]
PYGL	1	["Glycogen storage disease"]	3	["Insulin signaling pathway","Glucagon signaling pathway","Glycogen breakdown (glycogenolysis)"]	5	["Disgenet (Glycogen storage disease)","CTD (Glycogen storage disease)","HPO (Glycogen storage disease)","Orphanet (Glycogen storage disease)","ClinVar (Glycogen storage disease)"]
PYGM	1	["Glycogen storage disease"]	3	["Insulin signaling pathway","Glucagon signaling pathway","Glycogen breakdown (glycogenolysis)"]	5	["Disgenet (Glycogen storage disease)","CTD (Glycogen storage disease)","HPO (Glycogen storage disease)","Orphanet (Glycogen storage disease)","ClinVar (Glycogen storage disease)"]

PHKA2 (phosphorylase kinase regulatory subunit alpha 2)

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