G6PD (glucose-6-phosphate dehydrogenase)

Gene

• Entrez ID: 2539
• Gene name: Glucose-6-phosphate dehydrogenase
• Gene symbol: G6PD
• Synonyms (NCBI Gene): CNSHA1, G6PD1
• Chromosome: X
• Chromosome location: Xq28
• Summary: This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynth

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1050828	C>T	Pathogenic, other, not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance, drug-response	Coding sequence variant, missense variant
rs1050829	T>A,C	Pathogenic, other, conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, missense variant
rs2515904	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs5030868	G>A	Pathogenic, other, likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs5030869	C>A,T	Pathogenic, other	Coding sequence variant, missense variant
rs5030872	T>A	Pathogenic, other	Coding sequence variant, missense variant
rs34193178	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs72554664	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs72554665	C>A,G,T	Other, pathogenic	Coding sequence variant, missense variant
rs76645461	A>G	Other, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs76723693	A>G	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs78365220	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs78478128	G>C	Other, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137852314	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852316	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852317	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852318	C>A,G,T	Other, pathogenic	Coding sequence variant, missense variant
rs137852320	T>C	Other, pathogenic	Coding sequence variant, missense variant
rs137852322	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852325	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852326	C>A,G	Other, pathogenic	Coding sequence variant, missense variant
rs137852327	C>T	Other, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs137852328	C>A,T	Other, pathogenic	Coding sequence variant, missense variant
rs137852329	G>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852330	G>A	Other, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs137852331	T>C	Other, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852332	C>G,T	Other, pathogenic	Coding sequence variant, missense variant
rs137852334	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852335	C>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852336	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852337	C>G,T	Other, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs137852339	C>T	Other, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137852341	C>A,T	Other, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137852342	G>A	Other, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs137852345	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852346	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852347	A>G	Other, pathogenic	Coding sequence variant, missense variant
rs267606835	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs267606836	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906468	C>T	Other, pathogenic	Missense variant, coding sequence variant
rs398123546	G>A	Pathogenic	Missense variant, coding sequence variant
rs398123547	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587776730	GGTCGTCCAGGTACCCTTTGGTGG>-	Other, pathogenic	Inframe deletion, coding sequence variant
rs782090947	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1557229599	G>A	Pathogenic	Missense variant, coding sequence variant
rs1557229736	T>A	Pathogenic	Missense variant, coding sequence variant
rs1557230040	T>A	Pathogenic	Missense variant, coding sequence variant
rs1557230573	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1603411177	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603411214	C>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002956	hsa-miR-1-3p	pSILAC	18668040
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay	14697198
MIRT018235	hsa-miR-335-5p	Microarray	18185580
MIRT002956	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT002956	hsa-miR-1-3p	Proteomics	18668040
MIRT029662	hsa-miR-26b-5p	Microarray	19088304
MIRT040672	hsa-miR-92b-3p	CLASH	23622248
MIRT437467	hsa-miR-206	Luciferase reporter assay, Quantitative proteomic approach, Western blot	23921124
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, Quantitative proteomic approach, Western blot	23921124
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	27861141
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	27861141
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	27861141
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	27861141
MIRT1009033	hsa-miR-1182	CLIP-seq
MIRT1009034	hsa-miR-1193	CLIP-seq
MIRT1009035	hsa-miR-1207-5p	CLIP-seq
MIRT1009036	hsa-miR-1256	CLIP-seq
MIRT1009037	hsa-miR-1343	CLIP-seq
MIRT1009038	hsa-miR-1908	CLIP-seq
MIRT1009039	hsa-miR-2392	CLIP-seq
MIRT1009040	hsa-miR-24	CLIP-seq
MIRT1009041	hsa-miR-3130-5p	CLIP-seq
MIRT1009042	hsa-miR-3173-3p	CLIP-seq
MIRT1009043	hsa-miR-3184	CLIP-seq
MIRT1009044	hsa-miR-3677-5p	CLIP-seq
MIRT1009045	hsa-miR-3689a-3p	CLIP-seq
MIRT1009046	hsa-miR-3689c	CLIP-seq
MIRT1009047	hsa-miR-378g	CLIP-seq
MIRT1009048	hsa-miR-3926	CLIP-seq
MIRT1009049	hsa-miR-423-5p	CLIP-seq
MIRT1009050	hsa-miR-4269	CLIP-seq
MIRT1009051	hsa-miR-4425	CLIP-seq
MIRT1009052	hsa-miR-4437	CLIP-seq
MIRT1009053	hsa-miR-4482	CLIP-seq
MIRT1009054	hsa-miR-4514	CLIP-seq
MIRT1009055	hsa-miR-4640-5p	CLIP-seq
MIRT1009056	hsa-miR-4651	CLIP-seq
MIRT1009057	hsa-miR-4674	CLIP-seq
MIRT1009058	hsa-miR-4687-3p	CLIP-seq
MIRT1009059	hsa-miR-4692	CLIP-seq
MIRT1009060	hsa-miR-4726-5p	CLIP-seq
MIRT1009061	hsa-miR-4736	CLIP-seq
MIRT1009062	hsa-miR-4742-5p	CLIP-seq
MIRT1009063	hsa-miR-4754	CLIP-seq
MIRT1009064	hsa-miR-4761-3p	CLIP-seq
MIRT1009065	hsa-miR-4763-3p	CLIP-seq
MIRT1009066	hsa-miR-4779	CLIP-seq
MIRT1009067	hsa-miR-4786-5p	CLIP-seq
MIRT1009068	hsa-miR-4787-5p	CLIP-seq
MIRT1009069	hsa-miR-512-5p	CLIP-seq
MIRT1009070	hsa-miR-516a-5p	CLIP-seq
MIRT1009071	hsa-miR-516b	CLIP-seq
MIRT1009072	hsa-miR-548s	CLIP-seq
MIRT1009073	hsa-miR-608	CLIP-seq
MIRT1009074	hsa-miR-663	CLIP-seq
MIRT1009075	hsa-miR-769-5p	CLIP-seq
MIRT1009076	hsa-miR-940	CLIP-seq
MIRT1009077	hsa-miR-1	CLIP-seq
MIRT1009078	hsa-miR-1289	CLIP-seq
MIRT1009079	hsa-miR-1301	CLIP-seq
MIRT1009037	hsa-miR-1343	CLIP-seq
MIRT1009080	hsa-miR-138	CLIP-seq
MIRT1009081	hsa-miR-15a	CLIP-seq
MIRT1009082	hsa-miR-15b	CLIP-seq
MIRT1009083	hsa-miR-16	CLIP-seq
MIRT1009038	hsa-miR-1908	CLIP-seq
MIRT1009084	hsa-miR-195	CLIP-seq
MIRT1009085	hsa-miR-2467-5p	CLIP-seq
MIRT1009042	hsa-miR-3173-3p	CLIP-seq
MIRT1009086	hsa-miR-3180	CLIP-seq
MIRT1009087	hsa-miR-3180-3p	CLIP-seq
MIRT1009043	hsa-miR-3184	CLIP-seq
MIRT1009088	hsa-miR-3188	CLIP-seq
MIRT1009089	hsa-miR-3196	CLIP-seq
MIRT1009090	hsa-miR-3689d	CLIP-seq
MIRT1009091	hsa-miR-3922-5p	CLIP-seq
MIRT1009092	hsa-miR-3940-3p	CLIP-seq
MIRT1009093	hsa-miR-3944-5p	CLIP-seq
MIRT1009094	hsa-miR-3960	CLIP-seq
MIRT1009095	hsa-miR-3975	CLIP-seq
MIRT1009049	hsa-miR-423-5p	CLIP-seq
MIRT1009096	hsa-miR-424	CLIP-seq
MIRT1009097	hsa-miR-4281	CLIP-seq
MIRT1009098	hsa-miR-4299	CLIP-seq
MIRT1009099	hsa-miR-4435	CLIP-seq
MIRT1009100	hsa-miR-4449	CLIP-seq
MIRT1009101	hsa-miR-4467	CLIP-seq
MIRT1009102	hsa-miR-4504	CLIP-seq
MIRT1009054	hsa-miR-4514	CLIP-seq
MIRT1009103	hsa-miR-4524	CLIP-seq
MIRT1009104	hsa-miR-4532	CLIP-seq
MIRT1009105	hsa-miR-4533	CLIP-seq
MIRT1009055	hsa-miR-4640-5p	CLIP-seq
MIRT1009106	hsa-miR-4649-3p	CLIP-seq
MIRT1009107	hsa-miR-4660	CLIP-seq
MIRT1009058	hsa-miR-4687-3p	CLIP-seq
MIRT1009059	hsa-miR-4692	CLIP-seq
MIRT1009108	hsa-miR-4708-3p	CLIP-seq
MIRT1009109	hsa-miR-4717-5p	CLIP-seq
MIRT1009060	hsa-miR-4726-5p	CLIP-seq
MIRT1009110	hsa-miR-4747-5p	CLIP-seq
MIRT1009111	hsa-miR-4750	CLIP-seq
MIRT1009112	hsa-miR-4753-5p	CLIP-seq
MIRT1009063	hsa-miR-4754	CLIP-seq
MIRT1009066	hsa-miR-4779	CLIP-seq
MIRT1009113	hsa-miR-485-5p	CLIP-seq
MIRT1009114	hsa-miR-497	CLIP-seq
MIRT1009115	hsa-miR-503	CLIP-seq
MIRT1009116	hsa-miR-5047	CLIP-seq
MIRT1009069	hsa-miR-512-5p	CLIP-seq
MIRT1009117	hsa-miR-613	CLIP-seq
MIRT1009118	hsa-miR-646	CLIP-seq
MIRT1009074	hsa-miR-663	CLIP-seq
MIRT1009119	hsa-miR-765	CLIP-seq
MIRT1009077	hsa-miR-1	CLIP-seq
MIRT1009035	hsa-miR-1207-5p	CLIP-seq
MIRT1998972	hsa-miR-122	CLIP-seq
MIRT1009078	hsa-miR-1289	CLIP-seq
MIRT1009079	hsa-miR-1301	CLIP-seq
MIRT1009038	hsa-miR-1908	CLIP-seq
MIRT1009085	hsa-miR-2467-5p	CLIP-seq
MIRT1009042	hsa-miR-3173-3p	CLIP-seq
MIRT1009086	hsa-miR-3180	CLIP-seq
MIRT1009087	hsa-miR-3180-3p	CLIP-seq
MIRT1009043	hsa-miR-3184	CLIP-seq
MIRT1998973	hsa-miR-3187-3p	CLIP-seq
MIRT1009088	hsa-miR-3188	CLIP-seq
MIRT1009089	hsa-miR-3196	CLIP-seq
MIRT1009091	hsa-miR-3922-5p	CLIP-seq
MIRT1009092	hsa-miR-3940-3p	CLIP-seq
MIRT1009093	hsa-miR-3944-5p	CLIP-seq
MIRT1009094	hsa-miR-3960	CLIP-seq
MIRT1009095	hsa-miR-3975	CLIP-seq
MIRT1009049	hsa-miR-423-5p	CLIP-seq
MIRT1009097	hsa-miR-4281	CLIP-seq
MIRT1009099	hsa-miR-4435	CLIP-seq
MIRT1009100	hsa-miR-4449	CLIP-seq
MIRT1009101	hsa-miR-4467	CLIP-seq
MIRT1009054	hsa-miR-4514	CLIP-seq
MIRT1998974	hsa-miR-4529-5p	CLIP-seq
MIRT1009104	hsa-miR-4532	CLIP-seq
MIRT1009105	hsa-miR-4533	CLIP-seq
MIRT1009055	hsa-miR-4640-5p	CLIP-seq
MIRT1009106	hsa-miR-4649-3p	CLIP-seq
MIRT1009056	hsa-miR-4651	CLIP-seq
MIRT1009107	hsa-miR-4660	CLIP-seq
MIRT1009059	hsa-miR-4692	CLIP-seq
MIRT1009108	hsa-miR-4708-3p	CLIP-seq
MIRT1009109	hsa-miR-4717-5p	CLIP-seq
MIRT1009060	hsa-miR-4726-5p	CLIP-seq
MIRT1009061	hsa-miR-4736	CLIP-seq
MIRT1009110	hsa-miR-4747-5p	CLIP-seq
MIRT1009111	hsa-miR-4750	CLIP-seq
MIRT1009112	hsa-miR-4753-5p	CLIP-seq
MIRT1009065	hsa-miR-4763-3p	CLIP-seq
MIRT1998975	hsa-miR-4768-5p	CLIP-seq
MIRT1009066	hsa-miR-4779	CLIP-seq
MIRT1009113	hsa-miR-485-5p	CLIP-seq
MIRT1009116	hsa-miR-5047	CLIP-seq
MIRT1998976	hsa-miR-541	CLIP-seq
MIRT1998977	hsa-miR-564	CLIP-seq
MIRT1009073	hsa-miR-608	CLIP-seq
MIRT1009117	hsa-miR-613	CLIP-seq
MIRT1009074	hsa-miR-663	CLIP-seq
MIRT1009077	hsa-miR-1	CLIP-seq
MIRT1009035	hsa-miR-1207-5p	CLIP-seq
MIRT1009079	hsa-miR-1301	CLIP-seq
MIRT1009038	hsa-miR-1908	CLIP-seq
MIRT1009040	hsa-miR-24	CLIP-seq
MIRT1009085	hsa-miR-2467-5p	CLIP-seq
MIRT1998973	hsa-miR-3187-3p	CLIP-seq
MIRT1009088	hsa-miR-3188	CLIP-seq
MIRT1009047	hsa-miR-378g	CLIP-seq
MIRT1009091	hsa-miR-3922-5p	CLIP-seq
MIRT1009093	hsa-miR-3944-5p	CLIP-seq
MIRT1009095	hsa-miR-3975	CLIP-seq
MIRT1009050	hsa-miR-4269	CLIP-seq
MIRT1009052	hsa-miR-4437	CLIP-seq
MIRT1009054	hsa-miR-4514	CLIP-seq
MIRT1998974	hsa-miR-4529-5p	CLIP-seq
MIRT1009055	hsa-miR-4640-5p	CLIP-seq
MIRT1009106	hsa-miR-4649-3p	CLIP-seq
MIRT1009056	hsa-miR-4651	CLIP-seq
MIRT1009107	hsa-miR-4660	CLIP-seq
MIRT1009057	hsa-miR-4674	CLIP-seq
MIRT1009059	hsa-miR-4692	CLIP-seq
MIRT1009108	hsa-miR-4708-3p	CLIP-seq
MIRT1009109	hsa-miR-4717-5p	CLIP-seq
MIRT1009060	hsa-miR-4726-5p	CLIP-seq
MIRT1009062	hsa-miR-4742-5p	CLIP-seq
MIRT1009112	hsa-miR-4753-5p	CLIP-seq
MIRT1009065	hsa-miR-4763-3p	CLIP-seq
MIRT1009113	hsa-miR-485-5p	CLIP-seq
MIRT1009116	hsa-miR-5047	CLIP-seq
MIRT1998977	hsa-miR-564	CLIP-seq
MIRT1009073	hsa-miR-608	CLIP-seq
MIRT1009117	hsa-miR-613	CLIP-seq
MIRT1009074	hsa-miR-663	CLIP-seq
MIRT1009076	hsa-miR-940	CLIP-seq
MIRT1009041	hsa-miR-3130-5p	CLIP-seq
MIRT1009044	hsa-miR-3677-5p	CLIP-seq
MIRT1009048	hsa-miR-3926	CLIP-seq
MIRT1009053	hsa-miR-4482	CLIP-seq
MIRT1009067	hsa-miR-4786-5p	CLIP-seq
MIRT1009072	hsa-miR-548s	CLIP-seq
MIRT1009075	hsa-miR-769-5p	CLIP-seq
MIRT1998972	hsa-miR-122	CLIP-seq
MIRT1998973	hsa-miR-3187-3p	CLIP-seq
MIRT1998974	hsa-miR-4529-5p	CLIP-seq
MIRT1009056	hsa-miR-4651	CLIP-seq
MIRT1998976	hsa-miR-541	CLIP-seq
MIRT1998977	hsa-miR-564	CLIP-seq
MIRT1009073	hsa-miR-608	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREM	Repression	17273168

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004345	Function	Glucose-6-phosphate dehydrogenase activity	IBA
GO:0004345	Function	Glucose-6-phosphate dehydrogenase activity	IDA	15858258, 35122041, 38066190
GO:0004345	Function	Glucose-6-phosphate dehydrogenase activity	IEA
GO:0004345	Function	Glucose-6-phosphate dehydrogenase activity	IMP	743300, 2420826, 5643703
GO:0005515	Function	Protein binding	IPI	21157431, 24769394, 35122041
GO:0005536	Function	D-glucose binding	IDA	15858258
GO:0005536	Function	D-glucose binding	IEA
GO:0005536	Function	D-glucose binding	IMP	5643703
GO:0005737	Component	Cytoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	743300, 35122041
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006006	Process	Glucose metabolic process	IBA
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006098	Process	Pentose-phosphate shunt	IDA	2297768
GO:0006098	Process	Pentose-phosphate shunt	IEA
GO:0006629	Process	Lipid metabolic process	TAS	17361089
GO:0006695	Process	Cholesterol biosynthetic process	IMP	12027950
GO:0006739	Process	NADP+ metabolic process	IDA	15858258
GO:0006740	Process	NADPH regeneration	IMP	17516514
GO:0006749	Process	Glutathione metabolic process	IMP	2420826, 17516514
GO:0009051	Process	Pentose-phosphate shunt, oxidative branch	IBA
GO:0009051	Process	Pentose-phosphate shunt, oxidative branch	IEA
GO:0009051	Process	Pentose-phosphate shunt, oxidative branch	IMP	2420826
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	743300
GO:0010041	Process	Response to iron(III) ion	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016614	Function	Oxidoreductase activity, acting on CH-OH group of donors	IEA
GO:0019322	Process	Pentose biosynthetic process	IDA	5643703
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0030246	Function	Carbohydrate binding	IEA
GO:0032094	Process	Response to food	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0034599	Process	Cellular response to oxidative stress	IMP	17516514
GO:0042802	Function	Identical protein binding	IPI	24769394, 25416956
GO:0042803	Function	Protein homodimerization activity	IPI	15858258, 38066190
GO:0043249	Process	Erythrocyte maturation	IMP	5643703
GO:0043523	Process	Regulation of neuron apoptotic process	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0046390	Process	Ribose phosphate biosynthetic process	IMP	2420826
GO:0050661	Function	NADP binding	IDA	15858258
GO:0050661	Function	NADP binding	IEA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IDA	15858258, 38066190
GO:0051156	Process	Glucose 6-phosphate metabolic process	IEA
GO:0051156	Process	Glucose 6-phosphate metabolic process	IMP	5643703
GO:0061052	Process	Negative regulation of cell growth involved in cardiac muscle cell development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1904879	Process	Positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IEA
GO:2000378	Process	Negative regulation of reactive oxygen species metabolic process	IEA

Other IDs

• MIM: 305900
• HGNC: 4057
• e!Ensembl: ENSG00000160211

Protein

• UniProt ID: P11413
• Protein name: Glucose-6-phosphate 1-dehydrogenase (G6PD) (EC 1.1.1.49)
• Protein function: Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose ph
• PDB: 1QKI, 2BH9, 2BHL, 5UKW, 6E07, 6E08, 6JYU, 6VA0, 6VA7, 6VA8, 6VA9, 6VAQ, 7SEH, 7SEI, 7SNF, 7SNG, 7SNH, 7SNI, 7TOE, 7TOF, 7UAG, 7UAL, 7UC2, 7ZVD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00479	G6PD_N	35 → 210	Glucose-6-phosphate dehydrogenase, NAD binding domain	Domain
  PF02781	G6PD_C	212 → 509	Glucose-6-phosphate dehydrogenase, C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform Long is found in lymphoblasts, granulocytes and sperm.
• Sequence:

  MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGL
  LPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQR
  LNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSS
  DRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEP
  FGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQA
  NNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGK
  ALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESEL
  DLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPI
  PYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL

• Sequence length: 515

Pathways

KEGG:

Pentose phosphate pathway
Glutathione metabolism
Metabolic pathways
Carbon metabolism
Central carbon metabolism in cancer
Diabetic cardiomyopathy

Reactome:

TP53 Regulates Metabolic Genes
Pentose phosphate pathway

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Anemia, nonspherocytic hemolytic, due to G6PD deficiency	Likely pathogenic; Pathogenic	rs2148328873, rs1557229854, rs979416826, rs2148331380, rs2148331875, rs2148328852, rs2148330566, rs137852324, rs2148328604, rs782315572, rs2070346788, rs72554665, rs782317415, rs2148328905, rs1557230626, rs2523270765, rs2523265500, rs2523265494, rs2523265466, rs2523265461, rs2148329890, rs137852318, rs2523265393, rs2523265386, rs2523265236, rs2523265233, rs2523264055, rs2523264030, rs2523264021, rs2523263867, rs2523263765, rs2523263701, rs2148329233, rs2070355916, rs2523263137, rs2523263128, rs2148328996, rs781967767, rs2523263007, rs2523262831, rs2523262780, rs2523262731, rs2523262719, rs2523262643, rs137852336, rs2523261815, rs2523261790, rs2523261771, rs2523261737, rs2523261336, rs2523261317, rs2523261277, rs782608284, rs1557229502, rs2523260813, rs2523260558, rs1557233915, rs1557229916, rs1282078643, rs2523263185, rs2523264036, rs2070352108, rs2523309030, rs2523273296, rs138687036, rs2523271379, rs200111236, rs281860640, rs2523268094, rs1557230213, rs2523266771, rs1334317184, rs2523265489, rs1557230040, rs2523263733, rs2523262948, rs2523262871, rs2523262863, rs137852322, rs2523262775, rs1557229685, rs1557233589, rs2523262593, rs2523262563, rs2523262550, rs2523262545, rs1557229670, rs2523262484, rs2523262389, rs2070706721, rs2070350038, rs2523261999, rs797043472, rs2523260651, rs2070702973, rs781865768, rs1000937138, rs2523272918, rs2523272874, rs2523272843, rs2523272772, rs2523272742, rs2523271431, rs782315044, rs2523271286, rs2523271160, rs2523271147, rs2523271102, rs2523270927, rs1191977862, rs782487723, rs2070383298, rs2523268586, rs2523268489, rs2523268426, rs2523268414, rs2523268370, rs2523268306, rs782170731, rs2523267993, rs2523267976, rs137852330, rs782514319, rs2523266858, rs2523266831, rs2523266813, rs781948754, rs2523266717, rs2523266689, rs2523266673, rs2523265547, rs2523265511, rs2523265506, rs1050828, rs74575103, rs5030869, rs137852314, rs5030868, rs137852316, rs137852317, rs137852319, rs137852320, rs137852321, rs137852323, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs76723693, rs72554664, rs137852329, rs137852331, rs137852332, rs137852334, rs137852335, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350009, rs2523266966, rs2523270760, rs2523261744, rs2523261785, rs1557229599, rs782090947, rs1557229736, rs1557230573, rs1603411214, rs137852325, rs1603411177, rs782322505, rs1557229572, rs78365220, rs1557229683, rs2070346743, rs398123546	RCV001377911 RCV001379702 RCV001388767 RCV001420429 RCV001420430 RCV002305609 RCV002305610 RCV002305616 RCV002305617 RCV001801166 RCV001961782 RCV002030520 RCV002249047 RCV002249998 RCV002250000 RCV002305837 RCV002305696 RCV002305697 RCV002305698 RCV002305699 RCV002305700 RCV002305701 RCV002305702 RCV002305703 RCV002305704 RCV002305705 RCV002305708 RCV002305709 RCV002305710 RCV002305711 RCV002305712 RCV002305713 RCV002305714 RCV002305717 RCV002305718 RCV002305719 RCV002305720 RCV002305722 RCV002305723 RCV002305725 RCV002305726 RCV002305728 RCV002305729 RCV002305730 RCV002305731 RCV002305735 RCV002305736 RCV002305737 RCV002305739 RCV002305740 RCV002305741 RCV002305742 RCV002305743 RCV002305744 RCV002305745 RCV002305746 RCV002305747 RCV002305748 RCV002305749 RCV002305750 RCV002305753 RCV002305754 RCV002305755 RCV002305756 RCV002305757 RCV002305758 RCV002305759 RCV002305760 RCV002305762 RCV002305763 RCV002305766 RCV002305767 RCV002305768 RCV002305769 RCV002305771 RCV002305772 RCV002305773 RCV002305774 RCV002305775 RCV002305777 RCV002305778 RCV002305779 RCV002305780 RCV002305781 RCV002305782 RCV002305783 RCV002305784 RCV002305785 RCV002305786 RCV002305787 RCV002305788 RCV002305789 RCV002305790 RCV002305791 RCV002305792 RCV002305793 RCV002305795 RCV002305796 RCV002305797 RCV002305798 RCV002305802 RCV002305809 RCV002305815 RCV002305816 RCV002305817 RCV002305818 RCV002305820 RCV002305822 RCV002305824 RCV002305826 RCV002305827 RCV002305828 RCV002305829 RCV002305830 RCV002305831 RCV002305834 RCV002305835 RCV002305838 RCV002305840 RCV002305841 RCV002305842 RCV002305843 RCV002305844 RCV002305845 RCV002305847 RCV002305850 RCV002305851 RCV002305852 RCV002305853 RCV002305854 RCV002305858 RCV002305859 RCV002305860 RCV002305861 RCV002305862 RCV002305864 RCV002305866 RCV002305868 RCV002305869 RCV002305870 RCV002305871 RCV000079404 RCV002288482 RCV000180546 RCV000282708 RCV000179363 RCV000066231 RCV000066233 RCV000180200 RCV002305427 RCV002305428 RCV001857328 RCV002305429 RCV002305430 RCV002305431 RCV000174272 RCV000066246 RCV000991016 RCV000066251 RCV002305433 RCV000180545 RCV000818410 RCV000763201 RCV000066262 RCV000991015 RCV000818047 RCV000011130 RCV000011133 RCV000011135 RCV000011137 RCV000800624 RCV000704108 RCV000798781 RCV000821638 RCV000699943 RCV001060931 RCV002305435 RCV000143788 RCV000143789 RCV000011156 RCV000066276 RCV001264782 RCV000991014 RCV000066279 RCV002305437 RCV002305438 RCV001212765 RCV003231065 RCV003455814 RCV003510628 RCV003509325 RCV003623810 RCV002305498 RCV001857951 RCV002305516 RCV002305526 RCV000991011 RCV000991012 RCV002305556 RCV001059211 RCV001231280 RCV001244181 RCV002305586 RCV002305587 RCV002305589 RCV000174032 RCV000799977
Congenital nonspherocytic hemolytic anemia	Likely pathogenic; Pathogenic	rs137852339	RCV005410884
Early-onset coronary artery disease	Pathogenic	rs137852340	RCV004540993
Familial cancer of breast	Likely pathogenic; Pathogenic	rs137852341	RCV005887423
Familial hemolytic anemia	Likely pathogenic	rs1557230573	RCV000655924
G6PD AGRIGENTO	Pathogenic	rs72554665	RCV000011106
G6PD ALHAMBRA	Likely pathogenic	rs137852335	RCV000011134
G6PD ANAHEIM	Pathogenic	rs137852316	RCV000030891
G6PD ANANT	Pathogenic	rs72554664	RCV000011121
G6PD ANDALUS	Likely pathogenic; Pathogenic	rs137852324	RCV000011103
G6PD ASAHI	Likely pathogenic; Pathogenic	rs1050828	RCV000011157
G6PD AURES	Likely pathogenic; Pathogenic	rs76645461	RCV000011145
G6PD AVEIRO	Likely pathogenic	rs137852346	RCV000011155
G6PD BEVERLY HILLS	Pathogenic	rs137852321	RCV000011100
G6PD CAGLIARI	Likely pathogenic; Pathogenic	rs5030868	RCV000011088
G6PD CANTON	Pathogenic	rs72554665	RCV000011104
G6PD CHATHAM	Pathogenic	rs5030869	RCV000011081
G6PD COIMBRA	Pathogenic	rs137852330	RCV000011126
G6PD COSENZA	Pathogenic	rs72554665	RCV000011167
G6PD deficiency	Likely pathogenic; Pathogenic	rs2070346788, rs1557229502, rs200111236, rs1557230213, rs1050828, rs74575103, rs137852314, rs5030868, rs137852318, rs72554665, rs5030872, rs137852333, rs137852327, rs137852328, rs76723693, rs72554664, rs137852339, rs76645461, rs137852340, rs78478128, rs782322505, rs398123546, rs78365220	RCV003317590 RCV005406433 RCV005058253 RCV005239357 RCV000606259 RCV000011080 RCV002298440 RCV000445579 RCV001166655 RCV000375428 RCV004586029 RCV003323355 RCV000405688 RCV000011118 RCV000011119 RCV000991190 RCV001563664 RCV001796957 RCV004525851 RCV003314551 RCV000778152 RCV004782632 RCV000778894 RCV000778895
G6PD deficient hemolytic anemia	Likely pathogenic; Pathogenic	rs5030868, rs137852327	RCV001250219 RCV001250220
G6PD DHON	Pathogenic	rs72554664	RCV000011122
G6PD GAOHE	Pathogenic	rs137852340	RCV000011146
G6PD GASTONIA	Likely pathogenic; Pathogenic	rs137852326	RCV000011110
G6PD GIFU	Pathogenic	rs72554665	RCV000011105
G6PD GUADALAJARA	Pathogenic	rs137852334	RCV000011132
G6PD HARILAOU	Likely pathogenic	rs137852319	RCV000011094
G6PD IERAPETRA	Pathogenic	rs137852333	RCV000011115
G6PD IOWA	Likely pathogenic; Pathogenic	rs137852320	RCV000011096
G6PD IOWA CITY	Likely pathogenic; Pathogenic	rs137852320	RCV000011097
G6PD JAMMU	Likely pathogenic; Pathogenic	rs137852327	RCV000011117
G6PD JAPAN	Pathogenic	rs137852336	RCV000011136
G6PD KAIPING	Pathogenic	rs72554664	RCV000011120
G6PD KALYAN	Likely pathogenic; Pathogenic	rs137852339	RCV000011144
G6PD KERALA	Likely pathogenic; Pathogenic	rs137852339	RCV000011143
G6PD KERALA-KALYAN	Likely pathogenic; Pathogenic	rs137852339	RCV000011142
G6PD LOMA LINDA	Likely pathogenic	rs137852329	RCV000011125
G6PD MAHIDOL	Likely pathogenic; Pathogenic	rs137852314	RCV000011085
G6PD MALAGA	Likely pathogenic; Pathogenic	rs5030872	RCV000030892
G6PD MARION	Likely pathogenic; Pathogenic	rs137852326	RCV000011111
G6PD MEDITERRANEAN	Likely pathogenic; Pathogenic	rs5030868	RCV000011086
G6PD MINNESOTA	Likely pathogenic; Pathogenic	rs137852326	RCV000011112
G6PD MODENA	Likely pathogenic; Pathogenic	rs137852318	RCV000011093
G6PD NAMORU	Likely pathogenic; Pathogenic	rs137852349	RCV000011160
G6PD NANKANG	Pathogenic	rs137852343	RCV000011150
G6PD NASHVILLE	Pathogenic	rs137852316	RCV000030890
G6PD NEAPOLIS	Likely pathogenic	rs137852344	RCV000011152
G6PD NILGIRI	Likely pathogenic; Pathogenic	rs137852332	RCV000011161
G6PD ORISSA	Likely pathogenic; Pathogenic	rs78478128	RCV000011149
G6PD PETRICH-LIKE	Pathogenic	rs72554664	RCV000011123
G6PD PORTICI	Pathogenic	rs137852316	RCV000011090
G6PD PUERTO LIMON	Likely pathogenic; Pathogenic	rs387906468	RCV000011108
G6PD QUING YUAN	Likely pathogenic; Pathogenic	rs137852341	RCV000011147
G6PD REHOVOT	Likely pathogenic	rs137852347	RCV000011158
G6PD RIVERSIDE	Likely pathogenic; Pathogenic	rs137852323	RCV000011102
G6PD SANTIAGO	Likely pathogenic	rs137852332	RCV000011129
G6PD SANTIAGO DE CUBA	Likely pathogenic; Pathogenic	rs137852317	RCV000011091
G6PD SAPPORO-LIKE	Pathogenic	rs72554664	RCV000011124
G6PD SASSARI	Likely pathogenic; Pathogenic	rs5030868	RCV000011087
G6PD SEATTLE-LIKE	Likely pathogenic; Pathogenic	rs137852318	RCV000011092
G6PD SERRES	Likely pathogenic	rs137852345	RCV000011153
G6PD SPRINGFIELD	Likely pathogenic; Pathogenic	rs137852320	RCV000011098
G6PD TAIWAN-HAKKA	Pathogenic	rs72554665	RCV000011107
G6PD TAIWAN-HAKKA 2	Likely pathogenic; Pathogenic	rs137852331	RCV000011128
G6PD TOMAH	Pathogenic	rs137852322	RCV000011101
G6PD VARNSDORF	Pathogenic	rs2070350009	RCV000011166
G6PD VIANGCHAN	Likely pathogenic; Pathogenic	rs137852327	RCV000011116
G6PD WALTER REED	Likely pathogenic; Pathogenic	rs137852320	RCV000011099
G6PD ZURICH	Pathogenic	rs2070350038	RCV000011165
G6PD-related disorder	Pathogenic; Likely pathogenic	rs5030869, rs5030868, rs137852318, rs137852320, rs72554665, rs137852327, rs76723693, rs76645461	RCV004748511 RCV003925095 RCV003904827 RCV004748512 RCV004748577 RCV004748513 RCV003934822 RCV004748514
Hemolytic anemia, G6PD deficient (favism)	Likely pathogenic; Pathogenic	rs5030868	RCV001265539
Hypercholesterolemia, familial, 1	Pathogenic	rs137852340	RCV006449353
Malaria, susceptibility to	Likely pathogenic; Pathogenic	rs1557229854, rs979416826, rs2148328604, rs1557229502, rs2523270927, rs2523268414, rs1050828, rs74575103, rs5030869, rs137852314, rs5030868, rs137852317, rs137852318, rs137852321, rs72554665, rs5030872, rs137852327, rs76723693, rs72554664, rs137852330, rs137852331, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs587776730, rs137852332, rs2523266681, rs782090947, rs1557230573, rs782322505, rs1557229572, rs78365220, rs398123546	RCV004796619 RCV003469744 RCV001574070 RCV003464443 RCV003471321 RCV003464444 RCV003460495 RCV003460450 RCV000763202 RCV000763205 RCV000477810 RCV002496322 RCV000763204 RCV003466848 RCV002498469 RCV003460496 RCV000763203 RCV003460453 RCV000763201 RCV003460454 RCV002504777 RCV003466849 RCV002482854 RCV002496323 RCV002496324 RCV003466851 RCV003460458 RCV004795390 RCV004566718 RCV003460459 RCV004576625 RCV004568663 RCV004568475 RCV003467799 RCV003462786 RCV003462821 RCV003460746 RCV003460747
Papillary renal cell carcinoma type 1	Likely pathogenic	rs1334317184	RCV005931778
See cases	Likely pathogenic; Pathogenic	rs5030868, rs137852326	RCV004584350 RCV004584321
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs1334317184, rs137852341	RCV005931779 RCV005887424

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs2523262460, rs2523260532, rs2523262977, rs782130334, rs2523271048, rs2070375134, rs267606835	-
Cervical cancer	Likely benign	rs376714443	RCV005930343
Colon adenocarcinoma	Uncertain significance	rs201838012	RCV005930355
Decreased glucosephosphate isomerase level	Uncertain significance	rs1057518975	RCV000414805
G6PD A+	Conflicting classifications of pathogenicity	rs1050829	RCV000011073
G6PD ILESHA	Conflicting classifications of pathogenicity	rs137852313	RCV000011082
G6PD MAHIDOL-LIKE	Conflicting classifications of pathogenicity	rs137852342	RCV000011148
G6PD METAPONTO	Conflicting classifications of pathogenicity	rs137852315	RCV000011089
G6PD MEXICO CITY	Conflicting classifications of pathogenicity	rs137852328	RCV000011131
G6PD PAWNEE	Conflicting classifications of pathogenicity	rs137852337	RCV000011138
G6PD SPLIT	Conflicting classifications of pathogenicity	rs137852348	RCV000011159
G6PD SUNDERLAND	Conflicting classifications of pathogenicity	rs137852338	RCV000011140
Glomerulopathy with fibronectin deposits 2	Conflicting classifications of pathogenicity	rs1050829	RCV005862976
Hemolytic anemia	Uncertain significance	rs1057518975	RCV000414805
Nonpapillary renal cell carcinoma	Likely benign; Uncertain significance	rs781879876, rs1435174977	RCV005912879 RCV005934767
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs1050829	RCV005920955

Associations from Text Mining
Disease Name	Relationship Type	References
6 Phosphogluconolactonase Deficiency	Associate	3858849
Acute Disease	Associate	35368337
Acute Febrile Encephalopathy	Associate	31590661
Acute malaria	Associate	28793894
Adenocarcinoma of Lung	Associate	37315289
Adenocarcinoma of Lung	Stimulate	38194707
Adrenoleukodystrophy	Associate	6795626
Anemia	Associate	18305266, 20200584, 32680472, 34014839, 7858267
Anemia Diamond Blackfan	Associate	34526430
Anemia Hemolytic	Associate	10745013, 15621740, 18568599, 22112733, 22139979, 2222408, 2836867, 29858578, 3012556, 33637102, 3393536, 35368337, 35858355, 36191877, 3858849, 39295190, 39457422, 39684266, 7401130, 7849299, 9332310, 9674740
Anemia Hemolytic Congenital	Associate	37697358
Anemia Hemolytic Congenital Nonspherocytic	Associate	10556177, 10666231, 12130518, 12846, 1999409, 24993877, 29072585, 7353069, 7858267, 8111051
Anemia Sickle Cell	Associate	1174693, 16356170, 20507315, 20842242, 22958163, 24666344, 29555644, 31213470, 34014839
Anophthalmia with pulmonary hypoplasia	Associate	37597521
Ataxia Telangiectasia	Associate	3812485
Atherosclerosis	Associate	30072850, 657452
Autoimmune Diseases	Associate	28627690
Breast Neoplasms	Associate	26607846, 26715276, 28260828, 29682102, 30987650, 32028979, 35597872, 36048131
Breast Neoplasms	Stimulate	27356773
Carcinogenesis	Associate	36048131, 38077440
Carcinoma Hepatocellular	Associate	24203292, 24994855, 26583321, 26621836, 28378759, 29471502, 29904144, 3012556, 32104698, 35712981, 36133439, 36347033, 37248957, 37599085, 37993470, 39383169, 39528670, 40621461
Carcinoma Hepatocellular	Stimulate	38297250
Carcinoma Merkel Cell	Associate	33361404
Carcinoma Non Small Cell Lung	Associate	32153123, 35597872, 37410361, 37950872, 38077440
Carcinoma Renal Cell	Associate	32319593, 33564363
Carcinoma Squamous Cell	Associate	38077440
Cardiovascular Diseases	Associate	30072850
Cell Transformation Neoplastic	Associate	37781025
Cerebral Infarction	Associate	22958163
Cerebrovascular Disorders	Associate	22958163
Cholestasis	Associate	20949590, 33162974
Cicatrix	Associate	7468759
Colonic Neoplasms	Associate	20186333
Colorectal Neoplasms	Associate	28542136, 36127319, 36147458, 36369902, 37781025, 37870214
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	18305266
Coronary Artery Disease	Associate	26944061
COVID 19	Associate	33439304, 34330510
Dermoid Cyst	Associate	5259759
Diabetes Gestational	Associate	31583916
Diabetes Mellitus	Associate	31213470
Diabetes Mellitus Type 1	Associate	15914531
Disease	Associate	34014839
Drug Related Side Effects and Adverse Reactions	Inhibit	22848499
Drug Related Side Effects and Adverse Reactions	Associate	24937102, 30987650, 36746659
Essential Hypertension	Associate	34996340
Fabry Disease	Associate	20507315
Familial Primary Pulmonary Hypertension	Associate	30161219
Fatigue	Associate	31701865
Fatigue Syndrome Chronic	Associate	33669532
Favism	Associate	10745013, 25339475, 3393536, 36614084
Fibrocystic Breast Disease	Associate	168914
Fibrosis	Associate	35676709
Fragile X Syndrome	Associate	3924593
Gaucher Disease	Associate	38391334
Genetic Diseases Inborn	Associate	15885137, 16356170, 29257243, 40447697
Glioma	Associate	27711253, 34573317
Glucosephosphate Dehydrogenase Deficiency	Associate	10745013, 1174693, 11985579, 12027950, 12130518, 12696079, 14978696, 15065213, 1611091, 16119988, 16356170, 17182638, 17273168, 17637841, 17726510, 18056001, 18568599, 1945893, 19589177, 19640310, 1978555, 1999409, 20200584, 20528626, 20949590, 22139979, 22993389, 23006493, 2393028, 24805191, 25201310, 25339475, 25536053, 26303162, 27097228, 27213370, 27225440, 27388012, 273924, 27672207, 27880809, 28059001, 28297664, 28376871, 2849540, 28852037, 28902532, 2912069, 29702993, 30161219, 301840, 30673054, 30819192, 30918572, 31213470, 31339274, 31590661, 31707353, 31793705, 31862010, 32536341, 32680472, 33413378, 33439304, 33607062, 33637102, 3393536, 34302047, 34495956, 34699526, 34762759, 34894207, 35065072, 35247950, 35840819, 36076204, 36191877, 36248708, 36419023, 37806950, 38085718, 38188142, 3858849, 39295190, 39457422, 40447697, 6789846, 7277420, 7803800, 7825590, 7849299, 8533762, 8571933, 8808605, 9332310, 9801159
Glucosephosphate Dehydrogenase Deficiency	Inhibit	14978696, 1999409, 23258327, 24943486, 27053284, 28627690, 31793705, 36008815, 4397065, 7401130, 9674740
Glycogen Storage Disease XII	Inhibit	15621740
Glycogen Storage Disease XII	Associate	21931771, 33887194
Granulomatous Disease Chronic	Associate	14978696, 7949143
Head and Neck Neoplasms	Associate	33859744
Hemoglobinopathies	Associate	31703724
Hemoglobinuria	Associate	19589177, 31701865
Hemolysis	Associate	12846, 20949590, 23926329, 24913169, 25786434, 26599634, 28826608, 30072850, 34014839, 34270547, 34643346, 35247950, 38188142, 3858849, 8241497
Hemolytic Uremic Syndrome	Associate	26249834, 28852037
Hemophagocytic Lymphohistiocytosis Familial 5	Associate	33162974
Hemophilia A	Associate	623105, 6421151
Hemophilia B	Associate	3924593
Hepatitis B	Stimulate	26583321
Hepatitis B	Associate	28260828
Hepatitis C Chronic	Associate	39336707
Homocystinuria	Associate	6940198
Hyperbilirubinemia	Associate	31862010
Hyperbilirubinemia Neonatal	Associate	20949590, 28069791, 31862010, 8571933
Hyperglycemia	Associate	31583916
Hypersensitivity Immediate	Inhibit	27388012
Hypersensitivity Immediate	Associate	27388012
Hypertension	Associate	35283964
Hypoxia	Stimulate	35408935
Immune System Diseases	Associate	35687490
Immunologic Deficiency Syndromes	Associate	30665411, 7825590
Infant Newborn Diseases	Associate	20949590
Infections	Associate	10556177, 25786434, 2836867, 32697331, 39457422
Inflammation	Associate	27097228, 28627690, 37248957, 37588055
Insulin Resistance	Associate	15914531
Jaundice	Associate	32680472, 39295190
Jaundice Neonatal	Associate	10745013, 28627690, 33637102, 35368337, 5697334, 8571933
Lesch Nyhan Syndrome	Associate	4522803, 5263751
Leukemia	Associate	3862437, 6972238
Leukemia Erythroblastic Acute	Associate	6574795
Leukemia Lymphocytic Chronic B Cell	Associate	22848499
Leukemia Monocytic Acute	Associate	10765922, 6592008
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	1373089, 3855667, 6930309, 6931619
Leukemia Myeloid Acute	Associate	1373089, 26596840, 278630, 3470307, 35408935, 6592008, 6939452
Leukocyte Disorders	Associate	10556177, 12130518
Light Fixation Seizure Syndrome	Associate	18663006
Lipid Metabolism Disorders	Associate	34996340
Livedoid Vasculopathy	Associate	22958163
Liver Diseases	Associate	16304354
Liver Failure	Associate	20949590
Lung Neoplasms	Associate	37315289
Lymphatic Metastasis	Stimulate	22012600
Lymphatic Metastasis	Associate	33361404
Lymphohistiocytosis Hemophagocytic	Associate	33162974
Lymphoma	Associate	35687490
Lymphoma B Cell	Associate	22848499
Lymphoma Large B Cell Diffuse	Associate	35687490
Lymphoma Mantle Cell	Associate	22848499
Malaria	Associate	12524354, 16356170, 20842242, 23614351, 25015414, 25885177, 26249834, 28541483, 28793894, 32697331, 34014839, 3552078, 36462528, 6349716, 817597
Malaria	Inhibit	23144702
Malaria Falciparum	Associate	29065882
Malaria Vivax	Associate	25889063, 31969155, 36508454
Metabolism Inborn Errors	Associate	17637841, 3393536, 8808605
Metabolism Inborn Errors	Inhibit	1978555
Multiple Myeloma	Associate	22848499
Muscular Dystrophy Duchenne	Associate	3989823
Myelodysplastic Syndromes	Associate	6326894, 8453104
Neoplasm Metastasis	Stimulate	22012600, 29471502
Neoplasm Metastasis	Associate	26607846, 28260828, 29954422, 32028979, 35213227, 35857842
Neoplasms	Associate	20186333, 20426867, 2168088, 22012600, 24994855, 25616277, 28627690, 29471502, 30987650, 32152520, 32319593, 32596991, 33361404, 35712981, 36048131, 37149513, 37781025, 6326894, 7211845
Neoplasms	Stimulate	22535206, 24270845, 27356773, 29904144
Neoplasms	Inhibit	25644430
Obesity	Stimulate	34330510
Oculocerebrorenal Syndrome	Associate	7180850
Osteosarcoma	Associate	37285835
Ototoxicity	Associate	28826608
Ovarian Neoplasms	Associate	26884841
Pancreatic Neoplasms	Associate	33197892, 37597521
Pancreatic Neoplasms	Stimulate	35857842
Pancytopenia	Associate	6690481
Papillomavirus Infections	Associate	25616277
Parasitemia	Associate	33891581
Parasitic Diseases	Associate	822772
Parkinson Disease	Associate	36593912
pediatric multisystem inflammatory disease COVID 19 related	Associate	37588055
Plaque Atherosclerotic	Associate	1190295, 842615
Pneumonia	Associate	33439304
Polycythemia Vera	Associate	3921571, 500813, 6932405
Pre Eclampsia	Associate	34996340
Prediabetic State	Associate	31213470
Progressive hearing loss stapes fixation	Associate	33439304
Prostatic Neoplasms	Associate	29954422, 35213227
Prostatitis	Associate	20881409
Pulmonary Arterial Hypertension	Associate	30161219
Pulmonary Arterial Hypertension	Stimulate	38194707
Red Cell Aplasia Pure	Associate	3858849
Respiratory Distress Syndrome	Associate	33439304
Reticulocytosis	Associate	36419023
Rhabdomyosarcoma	Associate	25644430
Squamous Cell Carcinoma of Head and Neck	Associate	33859744
Stomach Neoplasms	Associate	22012600
Stroke	Associate	24666344
Syndrome	Associate	19589177
Thalassemia	Associate	6305442
Thrombocythemia Essential	Associate	3921571
Thyroid Cancer Papillary	Inhibit	29978611
Triple Negative Breast Neoplasms	Associate	26715276
Urinary Bladder Neoplasms	Associate	34418989
Uterine Cervical Neoplasms	Associate	25616277
Vascular Diseases	Associate	35666067
Wiskott Aldrich Syndrome	Associate	7437512