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	2729
Gene name	Glutamate-cysteine ligase catalytic subunit
Gene symbol	GCLC
Synonyms (NCBI Gene)	CNSHA7GCLGCSGLCLGLCLC
Chromosome	6
Chromosome location	6p12.1
Summary	Glutamate-cysteine ligase, also known as gamma-glutamylcysteine synthetase is the first rate-limiting enzyme of glutathione synthesis. The enzyme consists of two subunits, a heavy catalytic subunit and a light regulatory subunit. This locus encodes the ca

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1554152412	A>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, intron variant

168

Show/Hide all (168)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021012	hsa-miR-155-5p	Proteomics	18668040
MIRT440579	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT440579	ebv-miR-BART7-3p	HITS-CLIP	22473208
MIRT727590	hsa-miR-30a-5p	HITS-CLIP	22473208
MIRT727589	hsa-miR-30b-5p	HITS-CLIP	22473208
MIRT727588	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT727586	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT727587	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT1014731	hsa-miR-1206	CLIP-seq
MIRT1014732	hsa-miR-1236	CLIP-seq
MIRT1014733	hsa-miR-1272	CLIP-seq
MIRT1014734	hsa-miR-1283	CLIP-seq
MIRT1014735	hsa-miR-1297	CLIP-seq
MIRT1014736	hsa-miR-1323	CLIP-seq
MIRT1014737	hsa-miR-137	CLIP-seq
MIRT1014738	hsa-miR-15a	CLIP-seq
MIRT1014739	hsa-miR-15b	CLIP-seq
MIRT1014740	hsa-miR-16	CLIP-seq
MIRT1014741	hsa-miR-190	CLIP-seq
MIRT1014742	hsa-miR-190b	CLIP-seq
MIRT1014743	hsa-miR-195	CLIP-seq
MIRT1014744	hsa-miR-2053	CLIP-seq
MIRT1014745	hsa-miR-216b	CLIP-seq
MIRT1014746	hsa-miR-25	CLIP-seq
MIRT1014747	hsa-miR-26a	CLIP-seq
MIRT1014748	hsa-miR-26b	CLIP-seq
MIRT1014749	hsa-miR-3120-3p	CLIP-seq
MIRT1014750	hsa-miR-3156-5p	CLIP-seq
MIRT1014751	hsa-miR-32	CLIP-seq
MIRT1014752	hsa-miR-338-5p	CLIP-seq
MIRT1014753	hsa-miR-363	CLIP-seq
MIRT1014754	hsa-miR-367	CLIP-seq
MIRT1014755	hsa-miR-3942-3p	CLIP-seq
MIRT1014756	hsa-miR-3976	CLIP-seq
MIRT1014757	hsa-miR-424	CLIP-seq
MIRT1014758	hsa-miR-4260	CLIP-seq
MIRT1014759	hsa-miR-4275	CLIP-seq
MIRT1014760	hsa-miR-433	CLIP-seq
MIRT1014761	hsa-miR-4453	CLIP-seq
MIRT1014762	hsa-miR-4465	CLIP-seq
MIRT1014763	hsa-miR-4477a	CLIP-seq
MIRT1014764	hsa-miR-4538	CLIP-seq
MIRT1014765	hsa-miR-4632	CLIP-seq
MIRT1014766	hsa-miR-4676-5p	CLIP-seq
MIRT1014767	hsa-miR-4760-5p	CLIP-seq
MIRT1014768	hsa-miR-4761-5p	CLIP-seq
MIRT1014769	hsa-miR-4797-5p	CLIP-seq
MIRT1014770	hsa-miR-486-3p	CLIP-seq
MIRT1014771	hsa-miR-497	CLIP-seq
MIRT1014772	hsa-miR-520a-5p	CLIP-seq
MIRT1014773	hsa-miR-525-5p	CLIP-seq
MIRT1014774	hsa-miR-548a-3p	CLIP-seq
MIRT1014775	hsa-miR-548c-3p	CLIP-seq
MIRT1014776	hsa-miR-548e	CLIP-seq
MIRT1014777	hsa-miR-548f	CLIP-seq
MIRT1014778	hsa-miR-548g	CLIP-seq
MIRT1014779	hsa-miR-548o	CLIP-seq
MIRT1014780	hsa-miR-569	CLIP-seq
MIRT1014781	hsa-miR-575	CLIP-seq
MIRT1014782	hsa-miR-580	CLIP-seq
MIRT1014783	hsa-miR-646	CLIP-seq
MIRT1014784	hsa-miR-92a	CLIP-seq
MIRT1014785	hsa-miR-92b	CLIP-seq
MIRT1014786	hsa-miR-122	CLIP-seq
MIRT1014732	hsa-miR-1236	CLIP-seq
MIRT1014787	hsa-miR-1246	CLIP-seq
MIRT1014788	hsa-miR-1257	CLIP-seq
MIRT1014789	hsa-miR-127-5p	CLIP-seq
MIRT1014735	hsa-miR-1297	CLIP-seq
MIRT1014790	hsa-miR-1303	CLIP-seq
MIRT1014791	hsa-miR-135a	CLIP-seq
MIRT1014792	hsa-miR-135b	CLIP-seq
MIRT1014737	hsa-miR-137	CLIP-seq
MIRT1014745	hsa-miR-216b	CLIP-seq
MIRT1014746	hsa-miR-25	CLIP-seq
MIRT1014747	hsa-miR-26a	CLIP-seq
MIRT1014748	hsa-miR-26b	CLIP-seq
MIRT1014793	hsa-miR-3119	CLIP-seq
MIRT1014794	hsa-miR-3125	CLIP-seq
MIRT1014751	hsa-miR-32	CLIP-seq
MIRT1014753	hsa-miR-363	CLIP-seq
MIRT1014795	hsa-miR-3668	CLIP-seq
MIRT1014754	hsa-miR-367	CLIP-seq
MIRT1014796	hsa-miR-3916	CLIP-seq
MIRT1014755	hsa-miR-3942-3p	CLIP-seq
MIRT1014759	hsa-miR-4275	CLIP-seq
MIRT1014797	hsa-miR-4320	CLIP-seq
MIRT1014762	hsa-miR-4465	CLIP-seq
MIRT1014798	hsa-miR-4635	CLIP-seq
MIRT1014799	hsa-miR-4790-3p	CLIP-seq
MIRT1014783	hsa-miR-646	CLIP-seq
MIRT1014800	hsa-miR-877	CLIP-seq
MIRT1014784	hsa-miR-92a	CLIP-seq
MIRT1014785	hsa-miR-92b	CLIP-seq
MIRT2000453	hsa-miR-1238	CLIP-seq
MIRT2000454	hsa-miR-140-3p	CLIP-seq
MIRT2000455	hsa-miR-3137	CLIP-seq
MIRT2000456	hsa-miR-3622b-5p	CLIP-seq
MIRT1014760	hsa-miR-433	CLIP-seq
MIRT1014766	hsa-miR-4676-5p	CLIP-seq
MIRT1014772	hsa-miR-520a-5p	CLIP-seq
MIRT1014773	hsa-miR-525-5p	CLIP-seq
MIRT1014781	hsa-miR-575	CLIP-seq
MIRT2000457	hsa-miR-586	CLIP-seq
MIRT2233962	hsa-miR-101	CLIP-seq
MIRT1014731	hsa-miR-1206	CLIP-seq
MIRT1014732	hsa-miR-1236	CLIP-seq
MIRT1014787	hsa-miR-1246	CLIP-seq
MIRT1014733	hsa-miR-1272	CLIP-seq
MIRT2233963	hsa-miR-1279	CLIP-seq
MIRT1014734	hsa-miR-1283	CLIP-seq
MIRT1014735	hsa-miR-1297	CLIP-seq
MIRT1014736	hsa-miR-1323	CLIP-seq
MIRT2233964	hsa-miR-133a	CLIP-seq
MIRT2233965	hsa-miR-133b	CLIP-seq
MIRT1014737	hsa-miR-137	CLIP-seq
MIRT1014738	hsa-miR-15a	CLIP-seq
MIRT1014739	hsa-miR-15b	CLIP-seq
MIRT1014740	hsa-miR-16	CLIP-seq
MIRT1014743	hsa-miR-195	CLIP-seq
MIRT1014745	hsa-miR-216b	CLIP-seq
MIRT1014746	hsa-miR-25	CLIP-seq
MIRT1014747	hsa-miR-26a	CLIP-seq
MIRT1014748	hsa-miR-26b	CLIP-seq
MIRT2233966	hsa-miR-3064-5p	CLIP-seq
MIRT1014749	hsa-miR-3120-3p	CLIP-seq
MIRT2233967	hsa-miR-3168	CLIP-seq
MIRT1014751	hsa-miR-32	CLIP-seq
MIRT2233968	hsa-miR-329	CLIP-seq
MIRT1014752	hsa-miR-338-5p	CLIP-seq
MIRT2233969	hsa-miR-362-3p	CLIP-seq
MIRT1014753	hsa-miR-363	CLIP-seq
MIRT1014754	hsa-miR-367	CLIP-seq
MIRT2233970	hsa-miR-3941	CLIP-seq
MIRT1014757	hsa-miR-424	CLIP-seq
MIRT2233971	hsa-miR-4277	CLIP-seq
MIRT2233972	hsa-miR-4282	CLIP-seq
MIRT1014797	hsa-miR-4320	CLIP-seq
MIRT1014760	hsa-miR-433	CLIP-seq
MIRT1014762	hsa-miR-4465	CLIP-seq
MIRT2233973	hsa-miR-4492	CLIP-seq
MIRT2233974	hsa-miR-4498	CLIP-seq
MIRT2233975	hsa-miR-4506	CLIP-seq
MIRT2233976	hsa-miR-4645-3p	CLIP-seq
MIRT2233977	hsa-miR-4666-5p	CLIP-seq
MIRT1014766	hsa-miR-4676-5p	CLIP-seq
MIRT2233978	hsa-miR-4789-5p	CLIP-seq
MIRT1014769	hsa-miR-4797-5p	CLIP-seq
MIRT1014771	hsa-miR-497	CLIP-seq
MIRT2233979	hsa-miR-520d-5p	CLIP-seq
MIRT2233980	hsa-miR-524-5p	CLIP-seq
MIRT1014774	hsa-miR-548a-3p	CLIP-seq
MIRT1014775	hsa-miR-548c-3p	CLIP-seq
MIRT1014776	hsa-miR-548e	CLIP-seq
MIRT1014777	hsa-miR-548f	CLIP-seq
MIRT1014779	hsa-miR-548o	CLIP-seq
MIRT2233981	hsa-miR-568	CLIP-seq
MIRT1014781	hsa-miR-575	CLIP-seq
MIRT2233982	hsa-miR-579	CLIP-seq
MIRT2233983	hsa-miR-582-5p	CLIP-seq
MIRT2233984	hsa-miR-602	CLIP-seq
MIRT2233985	hsa-miR-603	CLIP-seq
MIRT1014783	hsa-miR-646	CLIP-seq
MIRT2233986	hsa-miR-656	CLIP-seq
MIRT2233987	hsa-miR-762	CLIP-seq
MIRT1014784	hsa-miR-92a	CLIP-seq
MIRT1014785	hsa-miR-92b	CLIP-seq
MIRT2233988	hsa-miR-95	CLIP-seq

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Transcription factor	Regulation	Reference
FOSL1	Unknown	16054171
JUN	Unknown	11233143;11912197;16054171
JUND	Unknown	16054171
MAF	Unknown	16054171
MTF1	Activation	15378601
NFE2	Unknown	16054171
NFE2L2	Repression	22459801
NFE2L2	Unknown	16054171
NFKB1	Unknown	11233143
RELA	Unknown	11233143
SP1	Activation	15342415;18245173

Show/Hide all (59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	24639
GO:0003824	Function	Catalytic activity	IEA
GO:0004357	Function	Glutamate-cysteine ligase activity	IBA
GO:0004357	Function	Glutamate-cysteine ligase activity	IDA	8104187, 9675072, 11972604
GO:0004357	Function	Glutamate-cysteine ligase activity	IEA
GO:0004357	Function	Glutamate-cysteine ligase activity	IMP	9841880, 12663448, 16183645
GO:0005515	Function	Protein binding	IPI	9675072, 9841880, 28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006534	Process	Cysteine metabolic process	IDA	2294991
GO:0006536	Process	Glutamate metabolic process	IDA	2294991, 9841880, 12663448
GO:0006749	Process	Glutathione metabolic process	IEA
GO:0006750	Process	Glutathione biosynthetic process	IBA
GO:0006750	Process	Glutathione biosynthetic process	IDA	8104187, 9675072, 10395918
GO:0006750	Process	Glutathione biosynthetic process	IEA
GO:0006750	Process	Glutathione biosynthetic process	IEA
GO:0006750	Process	Glutathione biosynthetic process	IMP	12663448
GO:0006979	Process	Response to oxidative stress	IDA	10395918, 11972604
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007584	Process	Response to nutrient	IEA
GO:0009408	Process	Response to heat	IDA	8104187
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009725	Process	Response to hormone	IDA	8104187
GO:0014823	Process	Response to activity	IEA
GO:0016595	Function	Glutamate binding	IDA	9841880
GO:0016874	Function	Ligase activity	IEA
GO:0017109	Component	Glutamate-cysteine ligase complex	IBA
GO:0017109	Component	Glutamate-cysteine ligase complex	IDA	9675072, 9841880
GO:0017109	Component	Glutamate-cysteine ligase complex	IEA
GO:0019852	Process	L-ascorbic acid metabolic process	IEA
GO:0031397	Process	Negative regulation of protein ubiquitination	IEA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0035729	Process	Cellular response to hepatocyte growth factor stimulus	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	10439045
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043531	Function	ADP binding	IDA	24639
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IEA
GO:0044752	Process	Response to human chorionic gonadotropin	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045454	Process	Cell redox homeostasis	IDA	10439045
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	10439045
GO:0046685	Process	Response to arsenic-containing substance	IEA
GO:0046686	Process	Response to cadmium ion	IEA
GO:0051409	Process	Response to nitrosative stress	IEA
GO:0051900	Process	Regulation of mitochondrial depolarization	IEA
GO:0070555	Process	Response to interleukin-1	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071333	Process	Cellular response to glucose stimulus	IEA
GO:0071372	Process	Cellular response to follicle-stimulating hormone stimulus	IEA
GO:0097069	Process	Cellular response to thyroxine stimulus	IEA
GO:0097746	Process	Blood vessel diameter maintenance	IMP	12598062
GO:1901029	Process	Negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IEA
GO:2000490	Process	Negative regulation of hepatic stellate cell activation	IEA
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
606857	4311	ENSG00000001084

P48506

Protein name

Glutamate--cysteine ligase catalytic subunit (EC 6.3.2.2) (GCS heavy chain) (Gamma-ECS) (Gamma-glutamylcysteine synthetase)

Protein function

Catalyzes the ATP-dependent ligation of L-glutamate and L-cysteine and participates in the first and rate-limiting step in glutathione biosynthesis.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03074	GCS	236 → 608	Glutamate-cysteine ligase	Family

Sequence

MGLLSQGSPLSWEETKRHADHVRRHGILQFLHIYHAVKDRHKDVLKWGDEVEYMLVSFDH
ENKKVRLVLSGEKVLETLQEKGERTNPNHPTLWRPEYGSYMIEGTPGQPYGGTMSEFNTV
EANMRKRRKEATSILEENQALCTITSFPRLGCPGFTLPEVKPNPVEGGASKSLFFPDEAI
NKHPRFSTLTRNIRHRRGEKVVINVPIFKDKNTPSPFIETFTEDDEASRASKPDHIYMDA
MGFGMGNCCLQVTFQACSISEARYLYDQLATICPIVMALSAASPFYRGYVSDIDCRWGVI
SASVDDRTREERGLEPLKNNNYRISKSRYDSIDSYLSKCGEKYNDIDLTIDKEIYEQLLQ
EGIDHLLAQHVAHLFIRDPLTLFEEKIHLDDANESDHFENIQSTNWQTMRFKPPPPNSDI
GWRVEFRPMEVQLTDFENSAYVVFVVLLTRVILSYKLDFLIPLSKVDENMKVAQKRDAVL
QGMFYFRKDICKGGNAVVDGCGKAQNSTELAAEEYTLMSIDTIINGKEGVFPGLIPILNS
YLENMEVDVDTRCSILNYLKLIKKRASGELMTVARWMREFIANHPDYKQDSVITDEMNYS
LILKCNQIANELCECPELLGSAFRKVKYSGSKTDSSN

Sequence length

637

Interactions

View interactions

	KEGG		Reactome
	Cysteine and methionine metabolism Glutathione metabolism Metabolic pathways Biosynthesis of cofactors Ferroptosis		Glutathione synthesis and recycling Defective GCLC causes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency (HAGGSD)

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Gamma-glutamylcysteine synthetase deficiency	Pathogenic	rs121907946	RCV000004164	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (34)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMINO ACID METABOLISM, INBORN ERRORS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 7	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY VESSEL ANOMALIES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GCLC-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial infarction, susceptibility to	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN SEROUS CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (186)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma	Adenocarcinoma	BEFREE	15254739		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29474642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11774239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	11774239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	31271759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	29091582	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amino Acid Metabolism, Inborn Errors	Disorder of amino acid metabolism	CTD_human_DG	10515893		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amino Acid Metabolism, Inherited Disorders	Inherited Errors of Amino Acid Metabolism	CTD_human_DG	10515893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	27142683		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	10733484, 2294991	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	BEFREE	10515893, 10733484, 18024385		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	CTD_human_DG	10515893		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic	Anemia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia, Hemolytic, Acquired	Anemia	CTD_human_DG	10515893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Microangiopathic	Anemia	CTD_human_DG	10515893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	29524864		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	LHGDN	17643973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	12744469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	GWASCAT_DG	30988330		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	21617856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19502811, 21538359, 21617856, 28411284, 31672029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23443115, 28411284	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	37917375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11774239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	11911273, 23947958, 25789740, 9245699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26040780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18398031, 7671249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	12598062		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	12598062	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28055227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	40420234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30522035, 31102548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic granulomatous disease	Granulomatous Disease	BEFREE	17331133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	10802223, 20732852, 22044695, 31265321		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11097346, 11500053, 31018491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	11820781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	11774239, 8705999, 9679568		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	29928324		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conotruncal cardiac defects	Conotruncal cardiac defect	Pubtator	24535845, 24585533, 25275547	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Conotruncal defect	Conotruncal defect	BEFREE	25275547		★★★★★ ★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	12081989, 12975258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	12081989, 12975258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	12081989, 12975258		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Vessel Anomalies	Coronary Vessel Anomalies	CTD_human_DG	12598062		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Disease Of Lung	Cystic lung disease	Pubtator	16690975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16690975, 23758905, 24593045		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	LHGDN	16690975		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic fibrosis	Pubtator	16690975, 23758905	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deep Vein Thrombosis	Thrombosis	BEFREE	31754562		★★★★★ ★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	BEFREE	28843663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	31365642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	30583760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29751399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29751399, 29920396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	29751399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	21962117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	17479437, 21962117, 27998794, 30959073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28257130		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	31067852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30959073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	23065155		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	29589594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslexia	Dyslexia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Enzymopathy	Enzymopathy	GENOMICS_ENGLAND_DG	10515893, 8634459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	18398031		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	19817962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to	Gamma-Glutamylcysteine Synthetase Deficiency	UNIPROT_DG	10515893, 10733484, 12663448		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to	Gamma-Glutamylcysteine Synthetase Deficiency	GENOMICS_ENGLAND_DG	10515893, 27604308, 8634459		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to	Gamma-Glutamylcysteine Synthetase Deficiency	ORPHANET_DG	10515893, 18024385		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to	Gamma-Glutamylcysteine Synthetase Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia due to	Gamma-Glutamylcysteine Synthetase Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	9626582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	9626582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	9345268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Globoid cell leukodystrophy	Globoid Cell Leukodystrophy	BEFREE	28115189, 9875712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glutamate-cysteine ligase deficiency	Glutamate-Cysteine Ligase Deficiency	GENOMICS_ENGLAND_DG	10515893, 8634459		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glutamate-cysteine ligase deficiency	Glutamate-Cysteine Ligase Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	26063766, 9679554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	36139430	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	25846410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	16166312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	28343419, 30210444, 30250866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	25218830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30191900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	28755973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	25218830		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	18035085		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	22228705		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	31151044		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	LHGDN	18926903		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	18926903	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis Vulgaris	Ichthyosis vulgaris	Pubtator	20664557	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intestinal Volvulus	Intestinal Volvulus	BEFREE	11163433		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29703010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	22960318		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	26949104		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	21962117		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	21962117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	8663001	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16239001, 26704388		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10748080, 11099488, 29549912, 31293636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	33162398	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	16690975		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	10370789, 23947958, 25789740, 9569044	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	11844594		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	27935865		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	26063766, 9679554		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19502811, 21538359, 21617856, 28411284, 31672029		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	11911273, 23947958, 25789740, 9245699, 9569044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	27935865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	7671249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21716162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29703010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11097346, 11687904, 16166312, 21617856, 23052169, 29395579, 31293636		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11097346, 11500053, 11687904, 31018491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	27620832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	30583760		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	21277635		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	BEFREE	9495245		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	33544514	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Bone Disorder	Metabolic Bone Disorder	BEFREE	29384842		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	24665821	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia	CTD_human_DG	10515893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	23152058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	16166312, 26907633		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mutilating keratoderma	Mutilating Keratoderma	BEFREE	10940652		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	12598062, 21504558		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	CTD_human_DG	12598062		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial infarction	Pubtator	12598062	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	CTD_human_DG	16214533		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial Ischemia	BEFREE	28757675		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Ischemia	Myocardial ischemia	Pubtator	28757675	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocarditis	Myocarditis	BEFREE	31601682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	BEFREE	30335521		★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	26426434		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16166312, 19826105, 24342307, 24802641, 25189947, 28219903, 29474642, 31293636, 7671249, 8705999, 9569044		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	22171071, 27620832		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20180881, 23291594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	20180881	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroectodermal Tumor, Primitive	Neuroectodermal Tumors	BEFREE	12873973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	18024385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	21438662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	15496427		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25189947, 30401714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonketotic Hyperglycinemia	Nonketotic Hyperglycinemia	BEFREE	16404748, 21470805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25275547, 25846410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy, Hereditary, Leber	Hereditary Leber Optic Atrophy	BEFREE	27631475		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	39258983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	7671249		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	9119751	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24342307		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	35194192	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pharyngitis	Pharyngitis	BEFREE	19833781		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pilocytic Astrocytoma	Astrocytoma	BEFREE	12744469		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	27769642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	31365642		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	29852184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	1355406, 21716162		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	22044695, 23688726, 40161396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32000766	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy	BEFREE	31157715		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10553979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	23052169		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	17921251, 21105962		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	17921251, 21105962		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	17921251	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar tract degeneration	Spinocerebellar Degeneration	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	9268987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28265008		★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31102548		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	19817962		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29703010		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35241341	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	40420234	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30048226, 30213237, 30636470		★★★★★ ★☆☆☆☆ Found in Text Mining only
Truncus Arteriosus, Persistent	Persistent truncus arteriosus	BEFREE	28758543		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	26220190		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	12598062	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GCLC (glutamate-cysteine ligase catalytic subunit)