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	5313
Gene name	Pyruvate kinase L/R
Gene symbol	PKLR
Synonyms (NCBI Gene)	CNSHA2PK1PKLPKRLRPK
Chromosome	1
Chromosome location	1q22
Summary	The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations

Show/Hide all (24)

SNP ID	Visualize variation	Clinical significance	Consequence
rs8177988	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs74315362	G>A	Pathogenic	Missense variant, 3 prime UTR variant, coding sequence variant
rs113403872	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs116100695	G>A	Likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs118204083	G>A	Pathogenic	Missense variant, coding sequence variant
rs118204084	G>T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs118204085	C>T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, missense variant, coding sequence variant
rs118204087	C>A,T	Pathogenic	5 prime UTR variant, missense variant, intron variant, coding sequence variant
rs118204089	G>T	Pathogenic	Missense variant, coding sequence variant
rs138871700	G>A	Pathogenic	Missense variant, coding sequence variant
rs185753709	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs201953584	C>A	Pathogenic	Coding sequence variant, stop gained
rs752423472	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs762591322	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, missense variant
rs764143249	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs771145576	C>A,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, downstream transcript variant, stop gained
rs772567442	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant, 5 prime UTR variant
rs773626254	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs774652817	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, genic downstream transcript variant, downstream transcript variant
rs886045351	ATG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs918627824	C>T	Pathogenic	Missense variant, coding sequence variant
rs1358047518	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1448381947	C>T	Pathogenic	Intron variant, splice acceptor variant
rs1572057140	C>T	Pathogenic	Splice donor variant

Show/Hide all (54)

miRTarBase ID	miRNA	Experiments
MIRT1237584	hsa-miR-3688-3p	CLIP-seq
MIRT1237585	hsa-miR-1270	CLIP-seq
MIRT1237586	hsa-miR-1273f	CLIP-seq
MIRT1237587	hsa-miR-1296	CLIP-seq
MIRT1237588	hsa-miR-147	CLIP-seq
MIRT1237589	hsa-miR-203	CLIP-seq
MIRT1237590	hsa-miR-2110	CLIP-seq
MIRT1237591	hsa-miR-2355-5p	CLIP-seq
MIRT1237592	hsa-miR-2861	CLIP-seq
MIRT1237593	hsa-miR-2909	CLIP-seq
MIRT1237594	hsa-miR-3179	CLIP-seq
MIRT1237595	hsa-miR-3202	CLIP-seq
MIRT1237596	hsa-miR-3650	CLIP-seq
MIRT1237584	hsa-miR-3688-3p	CLIP-seq
MIRT1237597	hsa-miR-370	CLIP-seq
MIRT1237598	hsa-miR-3911	CLIP-seq
MIRT1237599	hsa-miR-4271	CLIP-seq
MIRT1237600	hsa-miR-4434	CLIP-seq
MIRT1237601	hsa-miR-4436b-3p	CLIP-seq
MIRT1237602	hsa-miR-4468	CLIP-seq
MIRT1237603	hsa-miR-4512	CLIP-seq
MIRT1237604	hsa-miR-4516	CLIP-seq
MIRT1237605	hsa-miR-4648	CLIP-seq
MIRT1237606	hsa-miR-4654	CLIP-seq
MIRT1237607	hsa-miR-4663	CLIP-seq
MIRT1237608	hsa-miR-4667-5p	CLIP-seq
MIRT1237609	hsa-miR-4683	CLIP-seq
MIRT1237610	hsa-miR-4687-5p	CLIP-seq
MIRT1237611	hsa-miR-4688	CLIP-seq
MIRT1237612	hsa-miR-4694-3p	CLIP-seq
MIRT1237613	hsa-miR-4700-5p	CLIP-seq
MIRT1237614	hsa-miR-4713-5p	CLIP-seq
MIRT1237615	hsa-miR-4725-3p	CLIP-seq
MIRT1237616	hsa-miR-4747-5p	CLIP-seq
MIRT1237617	hsa-miR-4769-5p	CLIP-seq
MIRT1237618	hsa-miR-4775	CLIP-seq
MIRT1237619	hsa-miR-590-3p	CLIP-seq
MIRT1237620	hsa-miR-620	CLIP-seq
MIRT1237621	hsa-miR-644	CLIP-seq
MIRT1237622	hsa-miR-660	CLIP-seq
MIRT1237623	hsa-miR-661	CLIP-seq
MIRT1237584	hsa-miR-3688-3p	CLIP-seq
MIRT1237584	hsa-miR-3688-3p	CLIP-seq
MIRT1237618	hsa-miR-4775	CLIP-seq
MIRT1237619	hsa-miR-590-3p	CLIP-seq
MIRT1237622	hsa-miR-660	CLIP-seq
MIRT1237618	hsa-miR-4775	CLIP-seq
MIRT1237619	hsa-miR-590-3p	CLIP-seq
MIRT1237622	hsa-miR-660	CLIP-seq
MIRT2594558	hsa-miR-1253	CLIP-seq
MIRT2594559	hsa-miR-3123	CLIP-seq
MIRT2594560	hsa-miR-3925-5p	CLIP-seq
MIRT2594561	hsa-miR-3976	CLIP-seq
MIRT2594562	hsa-miR-873	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
USF1	Unknown	7852331
USF2	Unknown	7852331

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0004743	Function	Pyruvate kinase activity	IBA
GO:0004743	Function	Pyruvate kinase activity	IEA
GO:0004743	Function	Pyruvate kinase activity	NAS	1445295
GO:0004743	Function	Pyruvate kinase activity	TAS	3126495
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0006096	Process	Glycolytic process	IBA
GO:0006096	Process	Glycolytic process	IEA
GO:0006096	Process	Glycolytic process	NAS	23270483
GO:0007584	Process	Response to nutrient	IEA
GO:0009749	Process	Response to glucose	IEA
GO:0010038	Process	Response to metal ion	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030955	Function	Potassium ion binding	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IBA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0033198	Process	Response to ATP	IEA
GO:0042866	Process	Pyruvate biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048029	Function	Monosaccharide binding	IEA
GO:0051591	Process	Response to cAMP	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071872	Process	Cellular response to epinephrine stimulus	IEA
GO:1902912	Component	Pyruvate kinase complex	IDA	23270483

MIM	HGNC	e!Ensembl
609712	9020	ENSG00000143627

P30613

Protein name

Pyruvate kinase PKLR (EC 2.7.1.40) (Pyruvate kinase 1) (Pyruvate kinase isozymes L/R) (R-type/L-type pyruvate kinase) (Red cell/liver pyruvate kinase)

Protein function

Pyruvate kinase that catalyzes the conversion of phosphoenolpyruvate to pyruvate with the synthesis of ATP, and which plays a key role in glycolysis.

PDB

2VGB , 2VGF , 2VGG , 2VGI , 4IMA , 4IP7 , 5SC8 , 5SC9 , 5SCA , 5SCB , 5SCC , 5SCD , 5SCE , 5SCF , 5SCG , 5SCH , 5SCI , 5SCJ , 5SCK , 5SCL , 5SDT , 6NN4 , 6NN5 , 6NN7 , 6NN8 , 7FRV , 7FRW , 7FRX , 7FRY , 7FRZ , 7FS0 , 7FS1 , 7FS2 , 7FS3 , 7FS4 , 7FS5 , 7FS6 , 7FS7 , 7FS8 , 7FS9 , 7FSA , 7FSB , 7FSC , 7FSD , 7QDN , 7QZU , 8TBS , 8TBT , 8TBU , 8XFD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00224	PK	85 → 438	Pyruvate kinase, barrel domain	Family
PF02887	PK_C	453 → 571	Pyruvate kinase, alpha/beta domain	Domain

Sequence

MSIQENISSLQLRSWVSKSQRDLAKSILIGAPGGPAGYLRRASVAQLTQELGTAFFQQQQ
LPAAMADTFLEHLCLLDIDSEPVAARSTSIIATIGPASRSVERLKEMIKAGMNIARLNFS
HGSHEYHAESIANVREAVESFAGSPLSYRPVAIALDTKGPEIRTGILQGGPESEVELVKG
SQVLVTVDPAFRTRGNANTVWVDYPNIVRVVPVGGRIYIDDGLISLVVQKIGPEGLVTQV
ENGGVLGSRKGVNLPGAQVDLPGLSEQDVRDLRFGVEHGVDIVFASFVRKASDVAAVRAA
LGPEGHGIKIISKIENHEGVKRFDEILEVSDGIMVARGDLGIEIPAEKVFLAQKMMIGRC
NLAGKPVVCATQMLESMITKPRPTRAETSDVANAVLDGADCIMLSGETAKGNFPVEAVKM
QHAIAREAEAAVYHRQLFEELRRAAPLSRDPTEVTAIGAVEAAFKCCAAAIIVLTTTGRS
AQLLSRYRPRAAVIAVTRSAQAARQVHLCRGVFPLLYREPPEAIWADDVDRRVQFGIESG
KLRGFLRVGDLVIVVTGWRPGSGYTNIMRVLSIS

Sequence length

574

Interactions

View interactions

	KEGG		Reactome
	Glycolysis / Gluconeogenesis Pyruvate metabolism Metabolic pathways Carbon metabolism Biosynthesis of amino acids Insulin signaling pathway Type II diabetes mellitus Non-alcoholic fatty liver disease Maturity onset diabetes of the young		Glycolysis

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

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital anemia	Pathogenic	rs113403872, rs773626254	RCV005624664 RCV005626197	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PKLR-related disorder	Pathogenic; Likely pathogenic	rs754939638, rs574051756, rs981579065, rs113403872, rs116100695, rs772473652, rs1167329263, rs1647346476, rs201255024	RCV003416372 RCV005250195 RCV003911130 RCV003421893 RCV004751189 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate kinase deficiency of red cells	Pathogenic; Likely pathogenic	rs754939638, rs1433205059, rs776594413, rs2148218886, rs74315362, rs118204084, rs118204085, rs113403872, rs116100695, rs118204089, rs2148221101, rs771145576, rs774652817, rs1193689718, rs772860949 View all (18 more)	RCV002295341 RCV001732191 RCV002250766 RCV001729977 RCV000001572 View all (30 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pyruvate kinase hyperactivity	Likely pathogenic; Pathogenic	rs776594413, rs116100695, rs774652817, rs201953584, rs886045351	RCV002246424 RCV000762857 RCV005041964 RCV000762858 RCV002487303	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (17)

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, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 2	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEFICIENCY OF PYRUVATE KINASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GAUCHER DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemolytic anemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYTIC ANEMIA DUE TO RED CELL PYRUVATE KINASE DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (69)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	Pubtator	11960989, 29396846, 9166866	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	15870173, 24481986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	LHGDN	18726918		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Dyserythropoietic Congenital	Congenital dyserythropoietic anemia	Pubtator	29396846, 36305449	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	10354118, 11054094, 11328279, 15059150, 29288557, 33370479	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Autoimmune	Autoimmune hemolytic anemia	Pubtator	21794208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital	Hemolytic anemia	Pubtator	1536957, 29396846, 9160692	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic Congenital Nonspherocytic	Hemolytic anemia	Pubtator	11960989, 15870173, 24375447, 7706479, 8483951, 9057665	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Sickle Cell	Sickle cell anemia	Pubtator	35271708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	LHGDN	11916152, 11960989, 16540430		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	BEFREE	27138040, 29288557		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic, Congenital	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic, Congenital Nonspherocytic	Anemia	BEFREE	8664896		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
beta Thalassemia	Beta thalassemia	Pubtator	40085946	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30954648		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	30954648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26082033, 30482855, 34512869	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic hemolytic anemia	Hemolytic anemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic hemolytic anemia	Hemolytic anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26784545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	26784545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deficiency of pyruvate kinase	Deficiency Of Pyruvate Kinase	GENOMICS_ENGLAND_DG	10923218, 1896471, 8664896		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of pyruvate kinase	Deficiency Of Pyruvate Kinase	BEFREE	11054094, 11668614, 12393511, 15059150, 15870173, 19755962, 22183074, 24481986, 24533562, 26549847, 27138040, 28133914, 29288557, 30028822, 31618280, 8664896 View all (1 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of pyruvate kinase	Deficiency Of Pyruvate Kinase	CLINVAR_DG	11054094, 11328279, 11698298, 11960989, 12393511, 16704447, 17574881, 18759866, 21815188, 26658699, 26728349, 27346685, 27871768, 28133914, 7655861 View all (7 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of pyruvate kinase	Deficiency Of Pyruvate Kinase	UNIPROT_DG	11328279, 11960989, 1536957, 1896471, 19085939, 2018831, 21794208, 7706479, 8161798, 8180378, 8476433, 8481523, 8483951, 9482576, 9827908, 9886305 View all (1 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of pyruvate kinase	Deficiency Of Pyruvate Kinase	ORPHANET_DG	15953013, 16704447		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deficiency of pyruvate kinase	Deficiency Of Pyruvate Kinase	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	12196482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	12196482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19111066, 19141583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	12196482, 19111066		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dowling Degos Disease	Dowling degos disease	Pubtator	11960989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Enzymopathy	Enzymopathy	GENOMICS_ENGLAND_DG	1896471, 8664896		★★★★★ ★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	19755962, 27138040, 27871768, 29288557, 31618280		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrocytosis familial, 1	Erythrocytosis	GENOMICS_ENGLAND_DG	22274579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	31623628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	36180571	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	9677056		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycogen Storage Disease XII	Glycogen storage disease	Pubtator	15953013, 21931771, 9827908	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	29349879		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemolytic anemia due to red cell pyruvate kinase deficiency	Hemolytic Anemia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HSAN Type IV	Hereditary insensitivity to pain with anhidrosis	BEFREE	11668614		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	19141583	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	34449765	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26082033		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28630053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	30771521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30954648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29317602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	30954648		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	31623628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31689601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16763065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	34956573	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal unconjugated hyperbilirubinemia	Hyperbilirubinemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26784545		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonspherocytic hemolytic anemia	Hemolytic Anemia	BEFREE	15870173, 19755962, 26728349		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	30769281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31689601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32072180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16763065		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35306527	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spherocytosis Hereditary	Spherocytosis	Pubtator	35406697	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26330360, 32777176	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unconjugated hyperbilirubinemia	Hyperbilirubinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PKLR (pyruvate kinase L/R)