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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5213
Gene name	Phosphofructokinase, muscle
Gene symbol	PFKM
Synonyms (NCBI Gene)	ATP-PFKGSD7PFK-1PFK-APFK1PFKAPFKXPPP1R122
Chromosome	12
Chromosome location	12q13.11
Summary	Three phosphofructokinase isozymes exist in humans: muscle, liver and platelet. These isozymes function as subunits of the mammalian tetramer phosphofructokinase, which catalyzes the phosphorylation of fructose-6-phosphate to fructose-1,6-bisphosphate. Te

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs41291971	G>A	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs121918193	G>A,C,T	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs121918194	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121918196	G>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs746348793	G>A	Likely-pathogenic	Splice donor variant
rs755419857	G>T	Pathogenic	Splice donor variant
rs767095759	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064795749	C>T	Likely-pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs1233958453	AG>-,AGAGAG	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1430517061	A>G	Pathogenic	Splice acceptor variant
rs1592818641	GTACT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

202

Show/Hide all (202)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052269	hsa-let-7b-5p	CLASH	23622248
MIRT049227	hsa-miR-92a-3p	CLASH	23622248
MIRT044562	hsa-miR-320a	CLASH	23622248
MIRT044562	hsa-miR-320a	CLASH	23622248
MIRT655226	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT655225	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT655224	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT655223	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT655222	hsa-miR-125a-5p	HITS-CLIP	23824327
MIRT655221	hsa-miR-125b-5p	HITS-CLIP	23824327
MIRT655220	hsa-miR-4319	HITS-CLIP	23824327
MIRT655219	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT655218	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT655217	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT655216	hsa-miR-1199-5p	HITS-CLIP	23824327
MIRT655215	hsa-miR-6751-3p	HITS-CLIP	23824327
MIRT655214	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT655213	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT655226	hsa-miR-1250-3p	HITS-CLIP	23824327
MIRT655225	hsa-miR-153-5p	HITS-CLIP	23824327
MIRT655224	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT655223	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT655222	hsa-miR-125a-5p	HITS-CLIP	23824327
MIRT655221	hsa-miR-125b-5p	HITS-CLIP	23824327
MIRT655220	hsa-miR-4319	HITS-CLIP	23824327
MIRT655219	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT655218	hsa-miR-6734-3p	HITS-CLIP	23824327
MIRT655217	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT655216	hsa-miR-1199-5p	HITS-CLIP	23824327
MIRT655215	hsa-miR-6751-3p	HITS-CLIP	23824327
MIRT655214	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT655213	hsa-miR-6807-5p	HITS-CLIP	23824327
MIRT1226429	hsa-miR-1183	CLIP-seq
MIRT1226430	hsa-miR-1208	CLIP-seq
MIRT1226431	hsa-miR-1253	CLIP-seq
MIRT1226432	hsa-miR-1256	CLIP-seq
MIRT1226433	hsa-miR-141	CLIP-seq
MIRT1226434	hsa-miR-200a	CLIP-seq
MIRT1226435	hsa-miR-3125	CLIP-seq
MIRT1226436	hsa-miR-3138	CLIP-seq
MIRT1226437	hsa-miR-3591-5p	CLIP-seq
MIRT1226438	hsa-miR-3689a-5p	CLIP-seq
MIRT1226439	hsa-miR-3689b	CLIP-seq
MIRT1226440	hsa-miR-3689e	CLIP-seq
MIRT1226441	hsa-miR-3689f	CLIP-seq
MIRT1226442	hsa-miR-3914	CLIP-seq
MIRT1226443	hsa-miR-3916	CLIP-seq
MIRT1226444	hsa-miR-3928	CLIP-seq
MIRT1226445	hsa-miR-411	CLIP-seq
MIRT1226446	hsa-miR-4251	CLIP-seq
MIRT1226447	hsa-miR-4274	CLIP-seq
MIRT1226448	hsa-miR-4280	CLIP-seq
MIRT1226449	hsa-miR-4432	CLIP-seq
MIRT1226450	hsa-miR-4491	CLIP-seq
MIRT1226451	hsa-miR-4519	CLIP-seq
MIRT1226452	hsa-miR-4642	CLIP-seq
MIRT1226453	hsa-miR-4657	CLIP-seq
MIRT1226454	hsa-miR-4703-3p	CLIP-seq
MIRT1226455	hsa-miR-4715-5p	CLIP-seq
MIRT1226456	hsa-miR-4719	CLIP-seq
MIRT1226457	hsa-miR-4729	CLIP-seq
MIRT1226458	hsa-miR-4800-5p	CLIP-seq
MIRT1226459	hsa-miR-548n	CLIP-seq
MIRT1226460	hsa-miR-548t	CLIP-seq
MIRT1226461	hsa-miR-576-3p	CLIP-seq
MIRT1226462	hsa-miR-668	CLIP-seq
MIRT1226463	hsa-miR-877	CLIP-seq
MIRT1226429	hsa-miR-1183	CLIP-seq
MIRT1226430	hsa-miR-1208	CLIP-seq
MIRT1226435	hsa-miR-3125	CLIP-seq
MIRT1226443	hsa-miR-3916	CLIP-seq
MIRT1226445	hsa-miR-411	CLIP-seq
MIRT1226459	hsa-miR-548n	CLIP-seq
MIRT1226460	hsa-miR-548t	CLIP-seq
MIRT1226462	hsa-miR-668	CLIP-seq
MIRT1226463	hsa-miR-877	CLIP-seq
MIRT2066342	hsa-miR-147	CLIP-seq
MIRT2066343	hsa-miR-320b	CLIP-seq
MIRT2066344	hsa-miR-320c	CLIP-seq
MIRT2066345	hsa-miR-320d	CLIP-seq
MIRT2066346	hsa-miR-320e	CLIP-seq
MIRT2066347	hsa-miR-3938	CLIP-seq
MIRT1226448	hsa-miR-4280	CLIP-seq
MIRT2066348	hsa-miR-4312	CLIP-seq
MIRT2066349	hsa-miR-4429	CLIP-seq
MIRT2066350	hsa-miR-4504	CLIP-seq
MIRT1226454	hsa-miR-4703-3p	CLIP-seq
MIRT2066351	hsa-miR-542-3p	CLIP-seq
MIRT2066352	hsa-miR-577	CLIP-seq
MIRT2066353	hsa-miR-581	CLIP-seq
MIRT1226429	hsa-miR-1183	CLIP-seq
MIRT1226430	hsa-miR-1208	CLIP-seq
MIRT1226431	hsa-miR-1253	CLIP-seq
MIRT1226433	hsa-miR-141	CLIP-seq
MIRT2293808	hsa-miR-181a	CLIP-seq
MIRT2293809	hsa-miR-181b	CLIP-seq
MIRT2293810	hsa-miR-181c	CLIP-seq
MIRT2293811	hsa-miR-181d	CLIP-seq
MIRT1226434	hsa-miR-200a	CLIP-seq
MIRT2293812	hsa-miR-298	CLIP-seq
MIRT1226435	hsa-miR-3125	CLIP-seq
MIRT1226436	hsa-miR-3138	CLIP-seq
MIRT2293813	hsa-miR-3160-3p	CLIP-seq
MIRT2066343	hsa-miR-320b	CLIP-seq
MIRT2066344	hsa-miR-320c	CLIP-seq
MIRT2066345	hsa-miR-320d	CLIP-seq
MIRT2066346	hsa-miR-320e	CLIP-seq
MIRT2293814	hsa-miR-3682-3p	CLIP-seq
MIRT2293815	hsa-miR-383	CLIP-seq
MIRT1226442	hsa-miR-3914	CLIP-seq
MIRT1226443	hsa-miR-3916	CLIP-seq
MIRT1226444	hsa-miR-3928	CLIP-seq
MIRT1226445	hsa-miR-411	CLIP-seq
MIRT1226446	hsa-miR-4251	CLIP-seq
MIRT2293816	hsa-miR-4262	CLIP-seq
MIRT2066349	hsa-miR-4429	CLIP-seq
MIRT1226449	hsa-miR-4432	CLIP-seq
MIRT2293817	hsa-miR-4436b-5p	CLIP-seq
MIRT2293818	hsa-miR-4455	CLIP-seq
MIRT2293819	hsa-miR-4476	CLIP-seq
MIRT2293820	hsa-miR-4487	CLIP-seq
MIRT1226450	hsa-miR-4491	CLIP-seq
MIRT1226453	hsa-miR-4657	CLIP-seq
MIRT2293821	hsa-miR-4731-5p	CLIP-seq
MIRT2293822	hsa-miR-4772-5p	CLIP-seq
MIRT1226458	hsa-miR-4800-5p	CLIP-seq
MIRT2293823	hsa-miR-486-3p	CLIP-seq
MIRT1226459	hsa-miR-548n	CLIP-seq
MIRT1226460	hsa-miR-548t	CLIP-seq
MIRT2293824	hsa-miR-558	CLIP-seq
MIRT1226461	hsa-miR-576-3p	CLIP-seq
MIRT2066352	hsa-miR-577	CLIP-seq
MIRT2293825	hsa-miR-591	CLIP-seq
MIRT1226462	hsa-miR-668	CLIP-seq
MIRT1226463	hsa-miR-877	CLIP-seq
MIRT2465830	hsa-miR-28-5p	CLIP-seq
MIRT2465831	hsa-miR-3139	CLIP-seq
MIRT2465832	hsa-miR-708	CLIP-seq
MIRT1226429	hsa-miR-1183	CLIP-seq
MIRT1226430	hsa-miR-1208	CLIP-seq
MIRT1226431	hsa-miR-1253	CLIP-seq
MIRT2591903	hsa-miR-21	CLIP-seq
MIRT1226435	hsa-miR-3125	CLIP-seq
MIRT1226436	hsa-miR-3138	CLIP-seq
MIRT2293813	hsa-miR-3160-3p	CLIP-seq
MIRT2066343	hsa-miR-320b	CLIP-seq
MIRT2066344	hsa-miR-320c	CLIP-seq
MIRT2066345	hsa-miR-320d	CLIP-seq
MIRT2591904	hsa-miR-3647-3p	CLIP-seq
MIRT1226442	hsa-miR-3914	CLIP-seq
MIRT1226443	hsa-miR-3916	CLIP-seq
MIRT1226444	hsa-miR-3928	CLIP-seq
MIRT1226445	hsa-miR-411	CLIP-seq
MIRT2066349	hsa-miR-4429	CLIP-seq
MIRT1226449	hsa-miR-4432	CLIP-seq
MIRT2293818	hsa-miR-4455	CLIP-seq
MIRT2293820	hsa-miR-4487	CLIP-seq
MIRT1226450	hsa-miR-4491	CLIP-seq
MIRT2591905	hsa-miR-4496	CLIP-seq
MIRT1226453	hsa-miR-4657	CLIP-seq
MIRT1226456	hsa-miR-4719	CLIP-seq
MIRT1226458	hsa-miR-4800-5p	CLIP-seq
MIRT1226459	hsa-miR-548n	CLIP-seq
MIRT1226460	hsa-miR-548t	CLIP-seq
MIRT2293824	hsa-miR-558	CLIP-seq
MIRT1226461	hsa-miR-576-3p	CLIP-seq
MIRT2591906	hsa-miR-590-5p	CLIP-seq
MIRT2591907	hsa-miR-651	CLIP-seq
MIRT1226462	hsa-miR-668	CLIP-seq
MIRT1226463	hsa-miR-877	CLIP-seq
MIRT1226429	hsa-miR-1183	CLIP-seq
MIRT1226430	hsa-miR-1208	CLIP-seq
MIRT1226431	hsa-miR-1253	CLIP-seq
MIRT2591903	hsa-miR-21	CLIP-seq
MIRT1226435	hsa-miR-3125	CLIP-seq
MIRT1226436	hsa-miR-3138	CLIP-seq
MIRT2293813	hsa-miR-3160-3p	CLIP-seq
MIRT2066343	hsa-miR-320b	CLIP-seq
MIRT2066344	hsa-miR-320c	CLIP-seq
MIRT2066345	hsa-miR-320d	CLIP-seq
MIRT1226442	hsa-miR-3914	CLIP-seq
MIRT1226443	hsa-miR-3916	CLIP-seq
MIRT1226444	hsa-miR-3928	CLIP-seq
MIRT1226445	hsa-miR-411	CLIP-seq
MIRT2066349	hsa-miR-4429	CLIP-seq
MIRT1226449	hsa-miR-4432	CLIP-seq
MIRT2293818	hsa-miR-4455	CLIP-seq
MIRT2293820	hsa-miR-4487	CLIP-seq
MIRT1226450	hsa-miR-4491	CLIP-seq
MIRT2591905	hsa-miR-4496	CLIP-seq
MIRT1226453	hsa-miR-4657	CLIP-seq
MIRT1226456	hsa-miR-4719	CLIP-seq
MIRT1226458	hsa-miR-4800-5p	CLIP-seq
MIRT1226459	hsa-miR-548n	CLIP-seq
MIRT1226460	hsa-miR-548t	CLIP-seq
MIRT2293824	hsa-miR-558	CLIP-seq
MIRT1226461	hsa-miR-576-3p	CLIP-seq
MIRT2591906	hsa-miR-590-5p	CLIP-seq
MIRT2293825	hsa-miR-591	CLIP-seq
MIRT2591907	hsa-miR-651	CLIP-seq
MIRT1226462	hsa-miR-668	CLIP-seq
MIRT1226463	hsa-miR-877	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0003872	Function	6-phosphofructokinase activity	IBA
GO:0003872	Function	6-phosphofructokinase activity	IDA	6444721, 8780720
GO:0003872	Function	6-phosphofructokinase activity	IEA
GO:0003872	Function	6-phosphofructokinase activity	IMP	6444532, 25796446
GO:0003872	Function	6-phosphofructokinase activity	ISS
GO:0005515	Function	Protein binding	IPI	6444721, 12649290, 21988832, 25416956, 25796446, 28514442, 33961781
GO:0005524	Function	ATP binding	IDA	8780720
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	25796446
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005945	Component	6-phosphofructokinase complex	IBA
GO:0005945	Component	6-phosphofructokinase complex	IDA	6444532, 6444721
GO:0005945	Component	6-phosphofructokinase complex	IPI	24817713
GO:0005980	Process	Glycogen catabolic process	IEA
GO:0006002	Process	Fructose 6-phosphate metabolic process	IBA
GO:0006002	Process	Fructose 6-phosphate metabolic process	IDA	6444721
GO:0006002	Process	Fructose 6-phosphate metabolic process	IEA
GO:0006002	Process	Fructose 6-phosphate metabolic process	IMP	6444532
GO:0006096	Process	Glycolytic process	IEA
GO:0006096	Process	Glycolytic process	IMP	6444532
GO:0006096	Process	Glycolytic process	NAS	24817713
GO:0008443	Function	Phosphofructokinase activity	IEA
GO:0016020	Component	Membrane	IBA
GO:0016301	Function	Kinase activity	IEA
GO:0016324	Component	Apical plasma membrane	IDA	12649290
GO:0016740	Function	Transferase activity	IEA
GO:0019900	Function	Kinase binding	IPI	6444721
GO:0030388	Process	Fructose 1,6-bisphosphate metabolic process	IBA
GO:0032024	Process	Positive regulation of insulin secretion	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	6444721, 25416956
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	25796446
GO:0046716	Process	Muscle cell cellular homeostasis	IMP	6444532
GO:0046835	Process	Carbohydrate phosphorylation	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061615	Process	Glycolytic process through fructose-6-phosphate	IEA
GO:0061615	Process	Glycolytic process through fructose-6-phosphate	IMP	25796446
GO:0061621	Process	Canonical glycolysis	IBA
GO:0061621	Process	Canonical glycolysis	IEA
GO:0070061	Function	Fructose binding	IDA	8780720
GO:0070095	Function	Fructose-6-phosphate binding	IBA
GO:0093001	Process	Glycolysis from storage polysaccharide through glucose-1-phosphate	IEA
GO:0097228	Component	Sperm principal piece	IEA

MIM	HGNC	e!Ensembl
610681	8877	ENSG00000152556

P08237

Protein name

ATP-dependent 6-phosphofructokinase, muscle type (ATP-PFK) (PFK-M) (EC 2.7.1.11) (6-phosphofructokinase type A) (Phosphofructo-1-kinase isozyme A) (PFK-A) (Phosphohexokinase)

Protein function

Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis.

PDB

4OMT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00365	PFK	17 → 324	Phosphofructokinase	Domain
PF00365	PFK	402 → 687	Phosphofructokinase	Domain

Sequence

MTHEEHHAAKTLGIGKAIAVLTSGGDAQGMNAAVRAVVRVGIFTGARVFFVHEGYQGLVD
GGDHIKEATWESVSMMLQLGGTVIGSARCKDFREREGRLRAAYNLVKRGITNLCVIGGDG
SLTGADTFRSEWSDLLSDLQKAGKITDEEATKSSYLNIVGLVGSIDNDFCGTDMTIGTDS
ALHRIMEIVDAITTTAQSHQRTFVLEVMGRHCGYLALVTSLSCGADWVFIPECPPDDDWE
EHLCRRLSETRTRGSRLNIIIVAEGAIDKNGKPITSEDIKNLVVKRLGYDTRVTVLGHVQ
RGGTPSAFDRILGSRMGVEAVMALLEGTPDTPACVVSLSGNQAVRLPLMECVQVTKDVTK
AMDEKKFDEALKLRGRSFMNNWEVYKLLAHVRPPVSKSGSHTVAVMNVGAPAAGMNAAVR
STVRIGLIQGNRVLVVHDGFEGLAKGQIEEAGWSYVGGWTGQGGSKLGTKRTLPKKSFEQ
ISANITKFNIQGLVIIGGFEAYTGGLELMEGRKQFDELCIPFVVIPATVSNNVPGSDFSV
GADTALNTICTTCDRIKQSAAGTKRRVFIIETMGGYCGYLATMAGLAAGADAAYIFEEPF
TIRDLQANVEHLVQKMKTTVKRGLVLRNEKCNENYTTDFIFNLYSEEGKGIFDSRKNVLG
HMQQGGSPTPFDRNFATKMGAKAMNWMSGKIKESYRNGRIFANTPDSGCVLGMRKRALVF
QPVAELKDQTDFEHRIPKEQWWLKLRPILKILAKYEIDLDTSDHAHLEHITRKRSGEAAV

Sequence length

780

Interactions

View interactions

	KEGG		Reactome
	Glycolysis / Gluconeogenesis Pentose phosphate pathway Fructose and mannose metabolism Galactose metabolism Metabolic pathways Carbon metabolism Biosynthesis of amino acids RNA degradation HIF-1 signaling pathway AMPK signaling pathway Thyroid hormone signaling pathway Glucagon signaling pathway Central carbon metabolism in cancer		Glycolysis

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

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Glycogen storage disease	Pathogenic	rs767095759	RCV000826149	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease, type VII	Likely pathogenic; Pathogenic	rs1305706304, rs2135976459, rs1410122696, rs2135856711, rs1202417178, rs866260025, rs2136049056, rs1233958453, rs1369841345, rs2136020407, rs2137862074, rs202143236, rs2135886253, rs2135995131, rs2136019667 View all (94 more)	RCV001378843 RCV001379631 RCV001377683 RCV001387775 RCV001387777 View all (110 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisomal biogenesis disorder 3b	Pathogenic	rs202143236	RCV000008219	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PFKM-related disorder	Likely pathogenic	rs759413488	RCV003974449	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhabdomyolysis	Likely pathogenic; Pathogenic	rs202143236	RCV000662285	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs202143236	RCV005889649	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE DUE TO MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE TYPE IV	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE TYPE VII	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOGEN STORAGE DISEASE VII	—	GenCC, HPO GenCC, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	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	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ 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	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (48)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	27767175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20483646, 24493630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24493630, 35328104	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	25048361, 29038421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22213537		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	40149892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34564972	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36187097	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24306210	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	9389749, 9930938		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25932951, 29038421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	29038421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25932951, 29038421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34573317	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	7479776, 7825568, 8659544	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease	Glycogen Storage Disease	CLINVAR_DG	8037209, 8880699, 9389749		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease	Glycogen Storage Disease	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen storage disease due to muscle phosphofructokinase deficiency	Glycogen Storage Disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type VII	Glycogen Storage Disease	CTD_human_DG	2140573, 8444874		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type VII	Glycogen Storage Disease	UNIPROT_DG	22133655, 24427140, 7513946, 7825568, 8889589		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type VII	Glycogen Storage Disease	BEFREE	25985179, 7479776, 9389749, 9930938		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type VII	Glycogen storage disease	Pubtator	25985179, 31653659, 7479776, 7513946, 7825568, 8037209, 8444874, 8659544	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type VII	Glycogen Storage Disease	GENOMICS_ENGLAND_DG	26108272, 27604308, 7513946, 7603526, 8037209, 8889589		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type VII	Glycogen Storage Disease	CLINVAR_DG	7825568, 8037209, 8444874, 8880699		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease Type VII	Glycogen Storage Disease	ORPHANET_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	8659544	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30649892		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	Pubtator	8037209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31626790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20483646, 24493630		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31626790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30778058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21573193, 22923583, 25985179, 28482870, 31469100, 31830561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	28779239	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	7479776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	33404290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21573193, 22923583, 29038421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteogenesis Imperfecta Type VII	Osteogenesis imperfecta	Pubtator	8037209	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30778058		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	25048361, 34599215	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33228592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PFKM (phosphofructokinase, muscle)