PHKB (phosphorylase kinase regulatory subunit beta)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 5257
• Gene name: Phosphorylase kinase regulatory subunit beta
• Gene symbol: PHKB
• Synonyms (NCBI Gene): -
• Chromosome: 16
• Chromosome location: 16q12.1
• 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, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic i

SNPs Show/Hide all (16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34667348	C>A,T	Uncertain-significance, pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs61494991	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs111734407	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs121918021	T>A,G	Pathogenic	Coding sequence variant, stop gained
rs139738333	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142381554	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs145166656	C>T	Pathogenic	Coding sequence variant, stop gained
rs149244943	C>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs199948078	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs201995780	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs371296953	G>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs748262135	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs758004953	C>T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained
rs797044442	A>G	Pathogenic	Splice acceptor variant
rs1273669177	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1322527832	A>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA Show/Hide all (168)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000890	hsa-miR-15a-5p	Microarray	18362358
MIRT000889	hsa-miR-16-5p	Microarray	18362358
MIRT041947	hsa-miR-484	CLASH	23622248
MIRT496619	hsa-miR-1265	PAR-CLIP	22291592
MIRT496618	hsa-miR-4258	PAR-CLIP	22291592
MIRT444537	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT444536	hsa-miR-4312	PAR-CLIP	22100165
MIRT444535	hsa-miR-6882-3p	PAR-CLIP	22100165
MIRT444537	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT444536	hsa-miR-4312	PAR-CLIP	22100165
MIRT444535	hsa-miR-6882-3p	PAR-CLIP	22100165
MIRT496619	hsa-miR-1265	PAR-CLIP	22291592
MIRT496618	hsa-miR-4258	PAR-CLIP	22291592
MIRT444537	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT444536	hsa-miR-4312	PAR-CLIP	22100165
MIRT444535	hsa-miR-6882-3p	PAR-CLIP	22100165
MIRT444537	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT444536	hsa-miR-4312	PAR-CLIP	22100165
MIRT444535	hsa-miR-6882-3p	PAR-CLIP	22100165
MIRT1231631	hsa-miR-1178	CLIP-seq
MIRT1231632	hsa-miR-1185	CLIP-seq
MIRT1231633	hsa-miR-1254	CLIP-seq
MIRT1231634	hsa-miR-1273e	CLIP-seq
MIRT1231635	hsa-miR-146a	CLIP-seq
MIRT1231636	hsa-miR-146b-5p	CLIP-seq
MIRT1231637	hsa-miR-1587	CLIP-seq
MIRT1231638	hsa-miR-2277-3p	CLIP-seq
MIRT1231639	hsa-miR-3074-5p	CLIP-seq
MIRT1231640	hsa-miR-3116	CLIP-seq
MIRT1231641	hsa-miR-3159	CLIP-seq
MIRT1231642	hsa-miR-342-3p	CLIP-seq
MIRT1231643	hsa-miR-34c-3p	CLIP-seq
MIRT1231644	hsa-miR-3545-3p	CLIP-seq
MIRT1231645	hsa-miR-3605-5p	CLIP-seq
MIRT1231646	hsa-miR-3652	CLIP-seq
MIRT1231647	hsa-miR-3663-5p	CLIP-seq
MIRT1231648	hsa-miR-3679-5p	CLIP-seq
MIRT1231649	hsa-miR-370	CLIP-seq
MIRT1231650	hsa-miR-377	CLIP-seq
MIRT1231651	hsa-miR-378g	CLIP-seq
MIRT1231652	hsa-miR-4276	CLIP-seq
MIRT1231653	hsa-miR-4282	CLIP-seq
MIRT1231654	hsa-miR-4430	CLIP-seq
MIRT1231655	hsa-miR-4492	CLIP-seq
MIRT1231656	hsa-miR-4498	CLIP-seq
MIRT1231657	hsa-miR-4505	CLIP-seq
MIRT1231658	hsa-miR-4635	CLIP-seq
MIRT1231659	hsa-miR-4656	CLIP-seq
MIRT1231660	hsa-miR-4675	CLIP-seq
MIRT1231661	hsa-miR-4680-5p	CLIP-seq
MIRT1231662	hsa-miR-4716-5p	CLIP-seq
MIRT1231663	hsa-miR-4735-5p	CLIP-seq
MIRT1231664	hsa-miR-4741	CLIP-seq
MIRT1231665	hsa-miR-4775	CLIP-seq
MIRT1231666	hsa-miR-4794	CLIP-seq
MIRT1231667	hsa-miR-501-3p	CLIP-seq
MIRT1231668	hsa-miR-502-3p	CLIP-seq
MIRT1231669	hsa-miR-513a-3p	CLIP-seq
MIRT1231670	hsa-miR-548c-3p	CLIP-seq
MIRT1231671	hsa-miR-579	CLIP-seq
MIRT1231672	hsa-miR-587	CLIP-seq
MIRT1231673	hsa-miR-590-3p	CLIP-seq
MIRT1231674	hsa-miR-603	CLIP-seq
MIRT1231675	hsa-miR-647	CLIP-seq
MIRT1231676	hsa-miR-661	CLIP-seq
MIRT1231677	hsa-miR-664	CLIP-seq
MIRT1231678	hsa-miR-762	CLIP-seq
MIRT1231679	hsa-miR-767-5p	CLIP-seq
MIRT1231680	hsa-miR-922	CLIP-seq
MIRT1231681	hsa-miR-1207-5p	CLIP-seq
MIRT1231682	hsa-miR-138	CLIP-seq
MIRT1231683	hsa-miR-182	CLIP-seq
MIRT1231684	hsa-miR-1910	CLIP-seq
MIRT1231685	hsa-miR-3167	CLIP-seq
MIRT1231686	hsa-miR-34a	CLIP-seq
MIRT1231687	hsa-miR-34c-5p	CLIP-seq
MIRT1231688	hsa-miR-3650	CLIP-seq
MIRT1231689	hsa-miR-3923	CLIP-seq
MIRT1231690	hsa-miR-3944-5p	CLIP-seq
MIRT1231691	hsa-miR-4259	CLIP-seq
MIRT1231692	hsa-miR-4277	CLIP-seq
MIRT1231693	hsa-miR-4470	CLIP-seq
MIRT1231694	hsa-miR-449a	CLIP-seq
MIRT1231695	hsa-miR-449b	CLIP-seq
MIRT1231696	hsa-miR-455-3p	CLIP-seq
MIRT1231697	hsa-miR-4712-5p	CLIP-seq
MIRT1231698	hsa-miR-4715-5p	CLIP-seq
MIRT1231699	hsa-miR-4736	CLIP-seq
MIRT1231700	hsa-miR-4763-3p	CLIP-seq
MIRT1231701	hsa-miR-586	CLIP-seq
MIRT1231702	hsa-miR-604	CLIP-seq
MIRT1231675	hsa-miR-647	CLIP-seq
MIRT1231703	hsa-miR-656	CLIP-seq
MIRT1231704	hsa-miR-770-5p	CLIP-seq
MIRT1231705	hsa-miR-876-5p	CLIP-seq
MIRT1231631	hsa-miR-1178	CLIP-seq
MIRT2067992	hsa-miR-125a-3p	CLIP-seq
MIRT2067993	hsa-miR-1323	CLIP-seq
MIRT1231638	hsa-miR-2277-3p	CLIP-seq
MIRT2067994	hsa-miR-325	CLIP-seq
MIRT1231642	hsa-miR-342-3p	CLIP-seq
MIRT1231650	hsa-miR-377	CLIP-seq
MIRT1231689	hsa-miR-3923	CLIP-seq
MIRT2067995	hsa-miR-3934	CLIP-seq
MIRT2067996	hsa-miR-409-3p	CLIP-seq
MIRT2067997	hsa-miR-411	CLIP-seq
MIRT2067998	hsa-miR-4318	CLIP-seq
MIRT2067999	hsa-miR-4693-5p	CLIP-seq
MIRT1231662	hsa-miR-4716-5p	CLIP-seq
MIRT2068000	hsa-miR-4760-3p	CLIP-seq
MIRT2068001	hsa-miR-498	CLIP-seq
MIRT2068002	hsa-miR-501-5p	CLIP-seq
MIRT2068003	hsa-miR-548o	CLIP-seq
MIRT1231671	hsa-miR-579	CLIP-seq
MIRT1231672	hsa-miR-587	CLIP-seq
MIRT2068004	hsa-miR-607	CLIP-seq
MIRT2068005	hsa-miR-610	CLIP-seq
MIRT1231677	hsa-miR-664	CLIP-seq
MIRT2068006	hsa-miR-764	CLIP-seq
MIRT2068007	hsa-miR-892a	CLIP-seq
MIRT1231680	hsa-miR-922	CLIP-seq
MIRT2295426	hsa-miR-145	CLIP-seq
MIRT2295427	hsa-miR-3180-5p	CLIP-seq
MIRT1231662	hsa-miR-4716-5p	CLIP-seq
MIRT1231671	hsa-miR-579	CLIP-seq
MIRT1231677	hsa-miR-664	CLIP-seq
MIRT1231633	hsa-miR-1254	CLIP-seq
MIRT1231640	hsa-miR-3116	CLIP-seq
MIRT2465834	hsa-miR-3149	CLIP-seq
MIRT2067997	hsa-miR-411	CLIP-seq
MIRT1231663	hsa-miR-4735-5p	CLIP-seq
MIRT1231665	hsa-miR-4775	CLIP-seq
MIRT1231666	hsa-miR-4794	CLIP-seq
MIRT1231673	hsa-miR-590-3p	CLIP-seq
MIRT1231676	hsa-miR-661	CLIP-seq
MIRT1231681	hsa-miR-1207-5p	CLIP-seq
MIRT1231633	hsa-miR-1254	CLIP-seq
MIRT1231682	hsa-miR-138	CLIP-seq
MIRT2592995	hsa-miR-1976	CLIP-seq
MIRT1231640	hsa-miR-3116	CLIP-seq
MIRT2465834	hsa-miR-3149	CLIP-seq
MIRT1231685	hsa-miR-3167	CLIP-seq
MIRT1231688	hsa-miR-3650	CLIP-seq
MIRT1231690	hsa-miR-3944-5p	CLIP-seq
MIRT2067997	hsa-miR-411	CLIP-seq
MIRT1231663	hsa-miR-4735-5p	CLIP-seq
MIRT1231699	hsa-miR-4736	CLIP-seq
MIRT1231700	hsa-miR-4763-3p	CLIP-seq
MIRT1231665	hsa-miR-4775	CLIP-seq
MIRT1231666	hsa-miR-4794	CLIP-seq
MIRT2068001	hsa-miR-498	CLIP-seq
MIRT1231667	hsa-miR-501-3p	CLIP-seq
MIRT1231668	hsa-miR-502-3p	CLIP-seq
MIRT1231673	hsa-miR-590-3p	CLIP-seq
MIRT1231676	hsa-miR-661	CLIP-seq
MIRT1231679	hsa-miR-767-5p	CLIP-seq
MIRT1231705	hsa-miR-876-5p	CLIP-seq
MIRT1231633	hsa-miR-1254	CLIP-seq
MIRT2592995	hsa-miR-1976	CLIP-seq
MIRT1231640	hsa-miR-3116	CLIP-seq
MIRT2465834	hsa-miR-3149	CLIP-seq
MIRT2067997	hsa-miR-411	CLIP-seq
MIRT1231663	hsa-miR-4735-5p	CLIP-seq
MIRT1231665	hsa-miR-4775	CLIP-seq
MIRT1231666	hsa-miR-4794	CLIP-seq
MIRT2068001	hsa-miR-498	CLIP-seq
MIRT1231673	hsa-miR-590-3p	CLIP-seq
MIRT1231676	hsa-miR-661	CLIP-seq

Gene ontology (GO) Show/Hide all (11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21418524, 25051373, 25416956, 32296183
GO:0005516	Function	Calmodulin binding	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:0005975	Process	Carbohydrate metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	IEA
GO:0005977	Process	Glycogen metabolic process	TAS	9402963
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	9402963
GO:0016020	Component	Membrane	IEA

Other IDs

• MIM: 172490
• HGNC: 8927
• e!Ensembl: ENSG00000102893

Protein

• UniProt ID: Q93100
• Protein name: Phosphorylase b kinase regulatory subunit beta (Phosphorylase kinase subunit beta)
• Protein function: Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The beta chain acts as a regulatory unit and modulates the activity of the holoenzyme in response to phosphorylation.
• PDB: 8JFK , 8JFL , 8XYA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00723	Glyco_hydro_15	47 → 878	Glycosyl hydrolases family 15	Domain

• Sequence:

  MAGAAGLTAEVSWKVLERRARTKRSGSVYEPLKSINLPRPDNETLWDKLDHYYRIVKSTL
  LLYQSPTTGLFPTKTCGGDQKAKIQDSLYCAAGAWALALAYRRIDDDKGRTHELEHSAIK
  CMRGILYCYMRQADKVQQFKQDPRPTTCLHSVFNVHTGDELLSYEEYGHLQINAVSLYLL
  YLVEMISSGLQIIYNTDEVSFIQNLVFCVERVYRVPDFGVWERGSKYNNGSTELHSSSVG
  LAKAALEAINGFNLFGNQGCSWSVIFVDLDAHNRNRQTLCSLLPRESRSHNTDAALLPCI
  SYPAFALDDEVLFSQTLDKVVRKLKGKYGFKRFLRDGYRTSLEDPNRCYYKPAEIKLFDG
  IECEFPIFFLYMMIDGVFRGNPKQVQEYQDLLTPVLHHTTEGYPVVPKYYYVPADFVEYE
  KNNPGSQKRFPSNCGRDGKLFLWGQALYIIAKLLADELISPKDIDPVQRYVPLKDQRNVS
  MRFSNQGPLENDLVVHVALIAESQRLQVFLNTYGIQTQTPQQVEPIQIWPQQELVKAYLQ
  LGINEKLGLSGRPDRPIGCLGTSKIYRILGKTVVCYPIIFDLSDFYMSQDVFLLIDDIKN
  ALQFIKQYWKMHGRPLFLVLIREDNIRGSRFNPILDMLAALKKGIIGGVKVHVDRLQTLI
  SGAVVEQLDFLRISDTEELPEFKSFEELEPPKHSKVKRQSSTPSAPELGQQPDVNISEWK
  DKPTHEILQKLNDCSCLASQAILLGILLKREGPNFITKEGTVSDHIERVYRRAGSQKLWL
  AVRYGAAFTQKFSSSIAPHITTFLVHGKQVTLGAFGHEEEVISNPLSPRVIQNIIYYKCN
  THDEREAVIQQELVIHIGWIISNNPELFSGMLKIRIGWIIHAMEYELQIRGGDKPALDLY
  QLSPSEVKQLLLDILQPQQNGRCWLNRRQIDGSLNRTPTGFYDRVWQILERTPNGIIVAG
  KHLPQQPTLSDMTMYEMNFSLLVEDTLGNIDQPQYRQIVVELLMVVSIVLERNPELEFQD
  KVDLDRLVKEAFNEFQKDQSRLKEIEKQDDMTSFYNTPPLGKRGTCSYLTKAVMNLLLEG
  EVKPNNDDPCLIS

• Sequence length: 1093

Pathways

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

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Gastric cancer	Likely pathogenic; Pathogenic	rs34667348	RCV005887501	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen phosphorylase kinase deficiency	Likely pathogenic; Pathogenic	rs535749057, rs761645932, rs563345848, rs768885733, rs1969551435, rs763501714, rs797044442, rs121918021, rs145166656, rs149244943	RCV005432798 RCV002509720 RCV004782913 RCV002469968 RCV002469970 RCV003226661 RCV003398507 RCV003993744 RCV003226306 RCV003226380	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen storage disease IXb	Likely pathogenic; Pathogenic	rs535749057, rs777714363, rs2151739379, rs2151651792, rs2151737344, rs766592623, rs761645932, rs2151672494, rs1233197046, rs1292721679, rs964263812, rs563345848, rs768885733, rs755100317, rs2548337274, rs2506573467, rs763501714, rs758004953, rs2506377426, rs764133797, rs2506377578, rs1314795030, rs2506564729, rs2548334893, rs1268058356, rs2548337300, rs769640225, rs1454293516, rs34667348, rs797044442, rs121918021, rs2506737906, rs2548335901, rs2506402593, rs781603142, rs1972079641, rs2506732204, rs2506372380, rs2506621905, rs2506722312, rs1970581444, rs1972066901, rs1290323940, rs2506722059, rs2506567176, rs899519576, rs2506371794, rs2506401975, rs2506372466, rs1191733811, rs2506378006, rs2548334863, rs748242735, rs1973422354, rs1312150142, rs2506450760, rs780885921, rs765849667, rs1970251710, rs1974188923, rs1000274245, rs2506610275, rs774068671, rs967041673, rs1230727136, rs1973531054, rs2506226903, rs754199774, rs1973532430, rs2548341056, rs199948078, rs145166656, rs149244943, rs748262135, rs1242540921, rs371296953, rs1303617854, rs1322527832, rs1972413438	RCV001808058 RCV001378963 RCV001382780 RCV003130537 RCV001782614 RCV001970158 RCV001957103 RCV002030392 RCV002243545 RCV002250228 RCV003094124 RCV003096156 RCV003775504 RCV002628503 RCV002894421 RCV002993866 RCV003514620 RCV000778463 RCV003340783 RCV003514641 RCV003445322 RCV003448716 RCV003514688 RCV003514716 RCV003515447 RCV003514668 RCV003515280 RCV000014587 RCV000014588 RCV000014589 RCV000014590 RCV003515763 RCV003513857 RCV003515634 RCV003514030 RCV003516374 RCV003516601 RCV003514793 RCV003514993 RCV003515108 RCV003516029 RCV003516095 RCV003626879 RCV003626979 RCV003626947 RCV003627073 RCV003627082 RCV003627883 RCV003627891 RCV003627992 RCV003628141 RCV003628267 RCV003628377 RCV003626346 RCV003626173 RCV003626339 RCV003627164 RCV003627319 RCV003627500 RCV003627546 RCV003810987 RCV003828884 RCV003836025 RCV003852849 RCV003853285 RCV003849472 RCV003857374 RCV003862759 RCV003860923 RCV003854200 RCV003866109 RCV003875367 RCV003878130 RCV005055785 RCV005091002 RCV001206878 RCV003626639 RCV000779189 RCV000779190 RCV000779188 RCV002549289 RCV001293803	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Melanoma	Pathogenic	rs1000274245	RCV005934982	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PHKB-related disorder	Likely pathogenic; Pathogenic	rs535749057, rs764133797, rs756592483, rs121918021, rs149244943, rs371296953	RCV003416466 RCV003403028 RCV003408772 RCV004755735 RCV003892688 RCV004756034	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (19)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE DUE TO LIVER AND MUSCLE PHOSPHORYLASE KINASE DEFICIENCY	—	Orphanet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE, TYPE IX	—	Disgenet	27604308	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial disease	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (22)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31754332	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24929328	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28275865		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	27604308		★☆☆☆☆ Found in Text Mining only
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency	Glycogen Storage Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease IXB	Glycogen Storage Disease	CLINVAR_DG	21646031, 25070466, 9215682		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease IXB	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease IXB	Glycogen Storage Disease	UNIPROT_DG	9402963		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease IXB	Glycogen Storage Disease	ORPHANET_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease IXB	Glycogen Storage Disease	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	38212860	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type Ix	Glycogen storage disease	Pubtator	9326319	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type VI	Glycogen storage disease	Pubtator	9326319	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease, type IX	Glycogen Storage Disease	BEFREE	24326380, 9215682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen storage disease, type IX	Glycogen Storage Disease	CLINVAR_DG	9215682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatomegaly	Hepatomegaly	Pubtator	38212860	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Pancreatitis	Pubtator	37603299	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	29093530	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24929328	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31754332		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PHKA2 2 shared diseasesGlycogen phosphorylase kinase deficiency, Glycogen storage disease 4 shared pathwaysCalcium signaling pathway, Insulin signaling pathway, Glucagon signaling pathway, Glycogen breakdown (glycogenolysis) 6 shared evidence sourcesClinVar (Glycogen phosphorylase kinase deficiency), Disgenet (Glycogen storage disease), CTD (Glycogen storage disease), HPO (Glycogen storage disease), Orphanet (Glycogen storage disease), ClinVar (Glycogen storage disease) Related via 4 shared pathways including Calcium signaling pathway, Insulin signaling pathway — evidence mostly ClinVar. PHKG2 2 shared diseasesGlycogen phosphorylase kinase deficiency, Glycogen storage disease 4 shared pathwaysCalcium signaling pathway, Insulin signaling pathway, Glucagon signaling pathway, Glycogen breakdown (glycogenolysis) 8 shared evidence sourcesClinVar (Glycogen phosphorylase kinase deficiency), Disgenet (Glycogen storage disease), CTD (Glycogen storage disease), HPO (Glycogen storage disease), Orphanet (Glycogen storage disease), GWAS catalog (Glycogen storage disease), ClinVar (Glycogen storage disease), ClinGen (Glycogen storage disease) Related via 4 shared pathways including Calcium signaling pathway, Insulin signaling pathway — evidence mostly ClinVar. PHKA1 2 shared diseasesGlycogen phosphorylase kinase deficiency, Glycogen storage disease 4 shared pathwaysCalcium signaling pathway, Insulin signaling pathway, Glucagon signaling pathway, Glycogen breakdown (glycogenolysis) 7 shared evidence sourcesClinVar (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) Related via 4 shared pathways including Calcium signaling pathway, Insulin signaling pathway — evidence mostly ClinVar. PYGL 1 shared diseaseGlycogen storage disease 3 shared pathwaysInsulin signaling pathway, Glucagon signaling pathway, Glycogen breakdown (glycogenolysis) 7 shared evidence sourcesDisgenet (Glycogen storage disease), CTD (Glycogen storage disease), HPO (Glycogen storage disease), Orphanet (Glycogen storage disease), GWAS catalog (Glycogen storage disease), ClinVar (Glycogen storage disease), ClinGen (Glycogen storage disease) Related via 3 shared pathways including Insulin signaling pathway, Glucagon signaling pathway — evidence mostly Disgenet. PYGM 1 shared diseaseGlycogen storage disease 3 shared pathwaysInsulin signaling pathway, Glucagon signaling pathway, Glycogen breakdown (glycogenolysis) 7 shared evidence sourcesDisgenet (Glycogen storage disease), CTD (Glycogen storage disease), HPO (Glycogen storage disease), Orphanet (Glycogen storage disease), GWAS catalog (Glycogen storage disease), ClinVar (Glycogen storage disease), ClinGen (Glycogen storage disease) Related via 3 shared pathways including Insulin signaling pathway, Glucagon signaling pathway — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
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)"]	8	["ClinVar (Glycogen phosphorylase kinase deficiency)","Disgenet (Glycogen storage disease)","CTD (Glycogen storage disease)","HPO (Glycogen storage disease)","Orphanet (Glycogen storage disease)","GWAS catalog (Glycogen storage disease)","ClinVar (Glycogen storage disease)","ClinGen (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)"]	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)"]	7	["Disgenet (Glycogen storage disease)","CTD (Glycogen storage disease)","HPO (Glycogen storage disease)","Orphanet (Glycogen storage disease)","GWAS catalog (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)"]	7	["Disgenet (Glycogen storage disease)","CTD (Glycogen storage disease)","HPO (Glycogen storage disease)","Orphanet (Glycogen storage disease)","GWAS catalog (Glycogen storage disease)","ClinVar (Glycogen storage disease)","ClinGen (Glycogen storage disease)"]

Diseases Linked via Similar Genes

Ocular albinism Linked via 1 of 5 related genesPHKA2 Liver cirrhosis Linked via 1 of 5 related genesPHKG2 glycogen storage disease IXc Linked via 1 of 5 related genesPHKG2 Peripheral neuropathy Linked via 1 of 5 related genesPHKA1 glycogen storage disease IXd Linked via 1 of 5 related genesPHKA1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Ocular albinism	1	["PHKA2"]
Liver cirrhosis	1	["PHKG2"]
glycogen storage disease IXc	1	["PHKG2"]
Peripheral neuropathy	1	["PHKA1"]
glycogen storage disease IXd	1	["PHKA1"]