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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2539
Gene name	Glucose-6-phosphate dehydrogenase
Gene symbol	G6PD
Synonyms (NCBI Gene)	CNSHA1G6PD1
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

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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

213

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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 assayQuantitative proteomic approachWestern blot	23921124
MIRT002956	hsa-miR-1-3p	Luciferase reporter assayQuantitative proteomic approachWestern blot	23921124
MIRT002956	hsa-miR-1-3p	Luciferase reporter assayqRT-PCRWestern blot	27861141
MIRT002956	hsa-miR-1-3p	Luciferase reporter assayqRT-PCRWestern blot	27861141
MIRT002956	hsa-miR-1-3p	Luciferase reporter assayqRT-PCRWestern blot	27861141
MIRT002956	hsa-miR-1-3p	Luciferase reporter assayqRT-PCRWestern 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

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Transcription factor	Regulation	Reference
CREM	Repression	17273168

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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

MIM	HGNC	e!Ensembl
305900	4057	ENSG00000160211

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

Interactions

View interactions

	KEGG		Reactome
	Pentose phosphate pathway Glutathione metabolism Metabolic pathways Carbon metabolism Central carbon metabolism in cancer Diabetic cardiomyopathy		TP53 Regulates Metabolic Genes Pentose phosphate pathway

113

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 (75)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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 View all (172 more)	RCV001377911 RCV001379702 RCV001388767 RCV001420429 RCV001420430 View all (202 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital nonspherocytic hemolytic anemia	Likely pathogenic; Pathogenic	rs137852339	RCV005410884	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early-onset coronary artery disease	Pathogenic	rs137852340	RCV004540993	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs137852341	RCV005887423	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hemolytic anemia	Likely pathogenic	rs1557230573	RCV000655924	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD AGRIGENTO	Pathogenic	rs72554665	RCV000011106	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD ALHAMBRA	Likely pathogenic	rs137852335	RCV000011134	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD ANAHEIM	Pathogenic	rs137852316	RCV000030891	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD ANANT	Pathogenic	rs72554664	RCV000011121	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD ANDALUS	Likely pathogenic; Pathogenic	rs137852324	RCV000011103	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD ASAHI	Likely pathogenic; Pathogenic	rs1050828	RCV000011157	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD AURES	Likely pathogenic; Pathogenic	rs76645461	RCV000011145	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD AVEIRO	Likely pathogenic	rs137852346	RCV000011155	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD BEVERLY HILLS	Pathogenic	rs137852321	RCV000011100	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD CAGLIARI	Likely pathogenic; Pathogenic	rs5030868	RCV000011088	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD CANTON	Pathogenic	rs72554665	RCV000011104	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD CHATHAM	Pathogenic	rs5030869	RCV000011081	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD COIMBRA	Pathogenic	rs137852330	RCV000011126	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD COSENZA	Pathogenic	rs72554665	RCV000011167	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD deficiency	Likely pathogenic; Pathogenic	rs2070346788, rs1557229502, rs200111236, rs1557230213, rs1050828, rs74575103, rs137852314, rs5030868, rs137852318, rs72554665, rs5030872, rs137852333, rs137852327, rs137852328, rs76723693 View all (8 more)	RCV003317590 RCV005406433 RCV005058253 RCV005239357 RCV000606259 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
G6PD deficient hemolytic anemia	Likely pathogenic; Pathogenic	rs5030868, rs137852327	RCV001250219 RCV001250220	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD DHON	Pathogenic	rs72554664	RCV000011122	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD GAOHE	Pathogenic	rs137852340	RCV000011146	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD GASTONIA	Likely pathogenic; Pathogenic	rs137852326	RCV000011110	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD GIFU	Pathogenic	rs72554665	RCV000011105	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD GUADALAJARA	Pathogenic	rs137852334	RCV000011132	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD HARILAOU	Likely pathogenic	rs137852319	RCV000011094	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD IERAPETRA	Pathogenic	rs137852333	RCV000011115	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD IOWA	Likely pathogenic; Pathogenic	rs137852320	RCV000011096	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD IOWA CITY	Likely pathogenic; Pathogenic	rs137852320	RCV000011097	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD JAMMU	Likely pathogenic; Pathogenic	rs137852327	RCV000011117	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD JAPAN	Pathogenic	rs137852336	RCV000011136	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD KAIPING	Pathogenic	rs72554664	RCV000011120	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD KALYAN	Likely pathogenic; Pathogenic	rs137852339	RCV000011144	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD KERALA	Likely pathogenic; Pathogenic	rs137852339	RCV000011143	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD KERALA-KALYAN	Likely pathogenic; Pathogenic	rs137852339	RCV000011142	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD LOMA LINDA	Likely pathogenic	rs137852329	RCV000011125	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD MAHIDOL	Likely pathogenic; Pathogenic	rs137852314	RCV000011085	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD MALAGA	Likely pathogenic; Pathogenic	rs5030872	RCV000030892	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD MARION	Likely pathogenic; Pathogenic	rs137852326	RCV000011111	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD MEDITERRANEAN	Likely pathogenic; Pathogenic	rs5030868	RCV000011086	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD MINNESOTA	Likely pathogenic; Pathogenic	rs137852326	RCV000011112	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD MODENA	Likely pathogenic; Pathogenic	rs137852318	RCV000011093	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD NAMORU	Likely pathogenic; Pathogenic	rs137852349	RCV000011160	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD NANKANG	Pathogenic	rs137852343	RCV000011150	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD NASHVILLE	Pathogenic	rs137852316	RCV000030890	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD NEAPOLIS	Likely pathogenic	rs137852344	RCV000011152	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD NILGIRI	Likely pathogenic; Pathogenic	rs137852332	RCV000011161	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD ORISSA	Likely pathogenic; Pathogenic	rs78478128	RCV000011149	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD PETRICH-LIKE	Pathogenic	rs72554664	RCV000011123	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD PORTICI	Pathogenic	rs137852316	RCV000011090	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD PUERTO LIMON	Likely pathogenic; Pathogenic	rs387906468	RCV000011108	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD QUING YUAN	Likely pathogenic; Pathogenic	rs137852341	RCV000011147	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD REHOVOT	Likely pathogenic	rs137852347	RCV000011158	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD RIVERSIDE	Likely pathogenic; Pathogenic	rs137852323	RCV000011102	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD SANTIAGO	Likely pathogenic	rs137852332	RCV000011129	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD SANTIAGO DE CUBA	Likely pathogenic; Pathogenic	rs137852317	RCV000011091	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD SAPPORO-LIKE	Pathogenic	rs72554664	RCV000011124	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD SASSARI	Likely pathogenic; Pathogenic	rs5030868	RCV000011087	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD SEATTLE-LIKE	Likely pathogenic; Pathogenic	rs137852318	RCV000011092	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD SERRES	Likely pathogenic	rs137852345	RCV000011153	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD SPRINGFIELD	Likely pathogenic; Pathogenic	rs137852320	RCV000011098	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD TAIWAN-HAKKA	Pathogenic	rs72554665	RCV000011107	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD TAIWAN-HAKKA 2	Likely pathogenic; Pathogenic	rs137852331	RCV000011128	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD TOMAH	Pathogenic	rs137852322	RCV000011101	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD VARNSDORF	Pathogenic	rs2070350009	RCV000011166	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD VIANGCHAN	Likely pathogenic; Pathogenic	rs137852327	RCV000011116	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD WALTER REED	Likely pathogenic; Pathogenic	rs137852320	RCV000011099	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD ZURICH	Pathogenic	rs2070350038	RCV000011165	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
G6PD-related disorder	Pathogenic; Likely pathogenic	rs5030869, rs5030868, rs137852318, rs137852320, rs72554665, rs137852327, rs76723693, rs76645461	RCV004748511 RCV003925095 RCV003904827 RCV004748512 RCV004748577 RCV004748513 RCV003934822 RCV004748514 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hemolytic anemia, G6PD deficient (favism)	Likely pathogenic; Pathogenic	rs5030868	RCV001265539	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypercholesterolemia, familial, 1	Pathogenic	rs137852340	RCV006449353	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malaria, susceptibility to	Likely pathogenic; Pathogenic	rs1557229854, rs979416826, rs2148328604, rs1557229502, rs2523270927, rs2523268414, rs1050828, rs74575103, rs5030869, rs137852314, rs5030868, rs137852317, rs137852318, rs137852321, rs72554665 View all (21 more)	RCV004796619 RCV003469744 RCV001574070 RCV003464443 RCV003471321 View all (33 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Papillary renal cell carcinoma type 1	Likely pathogenic	rs1334317184	RCV005931778	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs1334317184, rs137852341	RCV005931779 RCV005887424	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (38)

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.
ANEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 1	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANHIDROTIC ECTODERMAL DYSPLASIA, IMMUNODEFICIENCY, OSTEOPETROSIS, LYMPHEDEMA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOCH SULZBERGER SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBROVASCULAR DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC GRANULOMATOUS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASS I GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY	—	GenCC, Orphanet GenCC, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased glucosephosphate isomerase level	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
G6PD A+	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
G6PD ILESHA	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
G6PD MAHIDOL-LIKE	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
G6PD METAPONTO	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
G6PD MEXICO CITY	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
G6PD PAWNEE	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
G6PD SPLIT	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
G6PD SUNDERLAND	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulopathy with fibronectin deposits 2	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRANULOMATOUS DISEASE, CHRONIC	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolytic anemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPER-IGM IMMUNODEFICIENCY, X-LINKED, WITH ECTODERMAL DYSPLASIA, HYPOHIDROTIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 33	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

G6PD (glucose-6-phosphate dehydrogenase)