PFKM (phosphofructokinase, muscle)

Gene

• Entrez ID: 5213
• Gene name: Phosphofructokinase, muscle
• Gene symbol: PFKM
• Synonyms (NCBI Gene): ATP-PFK, GSD7, PFK-1, PFK-A, PFK1, PFKA, PFKX, PPP1R122
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 610681
• HGNC: 8877
• e!Ensembl: ENSG00000152556

Protein

• UniProt ID: 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

Pathways

KEGG:

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

Reactome:

Glycolysis

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Glycogen storage disease	Pathogenic	rs767095759	RCV000826149
Glycogen storage disease, type VII	Likely pathogenic; Pathogenic	rs1305706304, rs2135976459, rs1410122696, rs2135856711, rs1202417178, rs866260025, rs2136049056, rs1233958453, rs1369841345, rs2136020407, rs2137862074, rs202143236, rs2135886253, rs2135995131, rs2136019667, rs41291965, rs866904446, rs2135915377, rs2135957798, rs755419857, rs895690691, rs121918193, rs121918195, rs121918196, rs2498389929, rs2498639501, rs2498573323, rs2498556494, rs2498640038, rs2498536567, rs2498611146, rs2540870223, rs773001987, rs2540765020, rs2498539706, rs2498311124, rs2498389370, rs2498557327, rs2498574377, rs760569139, rs2498345175, rs2540901407, rs2498610400, rs762942366, rs1193700814, rs2498315257, rs766042700, rs1392144132, rs1950563032, rs1343104321, rs2498608130, rs2540764901, rs2498458835, rs2498458753, rs1316130438, rs2498639015, rs112163675, rs2540899502, rs1308946694, rs754826643, rs2498640077, rs2498312007, rs2498538435, rs2498686131, rs2498581910, rs2498610063, rs2498538271, rs2498390391, rs1282065754, rs559443040, rs1335397957, rs2498368513, rs2498378481, rs2498313549, rs2498574816, rs2498638969, rs2498677983, rs1456151637, rs2498494038, rs745375312, rs2498510980, rs2498583246, rs2498315567, rs2498556266, rs2498556144, rs2498343608, rs2498652283, rs111397747, rs766350964, rs2498679839, rs2540854316, rs2498573232, rs113097435, rs759413488, rs2498458405, rs2498581748, rs1300079699, rs2540869432, rs2498573283, rs2540901723, rs1064795749, rs187131358, rs746348793, rs1430517061, rs767095759, rs1592818641, rs138893744, rs1949974650, rs770066278	RCV001378843 RCV001379631 RCV001377683 RCV001387775 RCV001387777 RCV001380454 RCV001950814 RCV001950953 RCV001949263 RCV001926361 RCV001893655 RCV002002423 RCV001879110 RCV001960493 RCV001950036 RCV001906465 RCV001939132 RCV001886569 RCV001983899 RCV000001211 RCV000001212 RCV000001213 RCV000001216 RCV000001217 RCV000001218 RCV002306819 RCV002309596 RCV002309600 RCV002309642 RCV002309911 RCV002310032 RCV002307890 RCV002308039 RCV002308102 RCV002309247 RCV002309296 RCV002309443 RCV002309499 RCV002306838 RCV002306892 RCV002306908 RCV002307130 RCV002310104 RCV002310255 RCV002310337 RCV002310548 RCV002308427 RCV000169670 RCV003062509 RCV003077821 RCV002633476 RCV003115091 RCV003104691 RCV003112259 RCV002816338 RCV002844028 RCV002862007 RCV002857659 RCV002871950 RCV002949644 RCV003045184 RCV003049510 RCV003134804 RCV003476869 RCV003476870 RCV003476871 RCV003476872 RCV003476873 RCV003476874 RCV003476875 RCV003476876 RCV003472428 RCV003472429 RCV003472430 RCV003472431 RCV003472432 RCV003472433 RCV003472434 RCV003472435 RCV003472436 RCV003472437 RCV003496193 RCV003495402 RCV003496212 RCV003496289 RCV003494673 RCV003601579 RCV003601518 RCV003601741 RCV003601684 RCV003601670 RCV003602197 RCV003602342 RCV003600010 RCV003600192 RCV003600921 RCV003601138 RCV003863404 RCV003853737 RCV005622262 RCV004574524 RCV004574525 RCV004574526 RCV004574527 RCV004574529 RCV004574530 RCV001274001 RCV000670080 RCV000696045 RCV001065921 RCV000779105 RCV000817843 RCV001047427 RCV001215639 RCV001215088
Peroxisomal biogenesis disorder 3b	Pathogenic	rs202143236	RCV000008219
PFKM-related disorder	Likely pathogenic	rs759413488	RCV003974449
Rhabdomyolysis	Likely pathogenic; Pathogenic	rs202143236	RCV000662285
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs202143236	RCV005889649

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cervical cancer	Likely benign; Benign	rs73302834, rs78496902	RCV005891224 RCV005910888
Gastric cancer	Likely benign; Benign	rs73302834, rs138022863, rs78496902	RCV005891225 RCV005898820 RCV005910891
Lung cancer	Likely benign	rs73302834	RCV005891227
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs78496902	RCV005910889
Malignant tumor of esophagus	Likely benign	rs73302834	RCV005891223
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs372870462	RCV005899973
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs73302834, rs372870462, rs371033104, rs78496902	RCV005891226 RCV005899974 RCV005903077 RCV005910892
Sarcoma	Benign; Likely benign	rs78496902	RCV005910890
Thymoma	Benign; Likely benign	rs757603988, rs371033104, rs78496902	RCV005869970 RCV005903078 RCV005910893
Uterine carcinosarcoma	Benign	rs725454	RCV005904249
Uterine corpus endometrial carcinoma	Likely benign	rs73302834	RCV005891228
Uveal melanoma	Likely benign	rs371778846	RCV005912803

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis Renal Tubular	Associate	18632794
Breast Neoplasms	Associate	24493630, 35328104
Carcinogenesis	Associate	25048361, 29038421
Carcinoma Hepatocellular	Associate	40149892
Carcinoma Non Small Cell Lung	Associate	27767175, 40016838
Colorectal Neoplasms	Associate	34564972
Diabetes Mellitus	Inhibit	36187097
Diabetes Mellitus Type 2	Associate	24306210
Fibrosis	Associate	36253358
Genetic Diseases Inborn	Associate	8659544
Glioblastoma	Associate	29038421
Glioma	Associate	34573317
Glycogen Storage Disease	Associate	7479776, 7825568, 8659544
Glycogen Storage Disease Type VII	Associate	25985179, 31653659, 7479776, 7513946, 7825568, 8037209, 8444874, 8659544
Heat Stress Disorders	Associate	39457051
Hemolytic Uremic Syndrome	Associate	8659544
Hyperuricemia	Associate	8037209
Metabolic Diseases	Associate	28779239
Muscular Diseases	Associate	7479776
Nasopharyngeal Carcinoma	Associate	33404290
Neoplasm Metastasis	Associate	33404290, 35328104
Neoplasms	Associate	21110941, 25048361, 25985179, 26337471, 28482870, 28977470, 29038421, 33404290, 34396983, 35608632, 36601784, 37622331, 40016838
Neoplasms	Inhibit	34564972
Osteogenesis Imperfecta Type VII	Associate	8037209
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	34396983
Squamous Cell Carcinoma of Head and Neck	Associate	25048361, 34599215
Uterine Cervical Neoplasms	Associate	33228592