Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	847
Gene name	Catalase
Gene symbol	CAT
Synonyms (NCBI Gene)	-
Chromosome	11
Chromosome location	11p13
Summary	This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide t

SNP ID	Visualize variation	Clinical significance	Consequence
rs761650208	G>A	Pathogenic	Intron variant
rs1590302115	T>-	Pathogenic	Coding sequence variant, frameshift variant

123 Show/Hide all (123)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007067	hsa-miR-30b-5p	Luciferase reporter assayqRT-PCRWestern blot	22880027
MIRT007067	hsa-miR-30b-5p	Luciferase reporter assayqRT-PCRWestern blot	22880027
MIRT020866	hsa-miR-155-5p	Proteomics	18668040
MIRT028614	hsa-miR-30a-5p	Proteomics	18668040
MIRT047237	hsa-miR-181b-5p	CLASH	23622248
MIRT864422	hsa-miR-1179	CLIP-seq
MIRT864423	hsa-miR-1250	CLIP-seq
MIRT864424	hsa-miR-1267	CLIP-seq
MIRT864425	hsa-miR-146a	CLIP-seq
MIRT864426	hsa-miR-146b-5p	CLIP-seq
MIRT864427	hsa-miR-148a	CLIP-seq
MIRT864428	hsa-miR-148b	CLIP-seq
MIRT864429	hsa-miR-152	CLIP-seq
MIRT864430	hsa-miR-190	CLIP-seq
MIRT864431	hsa-miR-190b	CLIP-seq
MIRT864432	hsa-miR-2110	CLIP-seq
MIRT864433	hsa-miR-30a	CLIP-seq
MIRT864434	hsa-miR-30b	CLIP-seq
MIRT864435	hsa-miR-30c	CLIP-seq
MIRT864436	hsa-miR-30d	CLIP-seq
MIRT864437	hsa-miR-30e	CLIP-seq
MIRT864438	hsa-miR-3143	CLIP-seq
MIRT864439	hsa-miR-337-3p	CLIP-seq
MIRT864440	hsa-miR-3611	CLIP-seq
MIRT864441	hsa-miR-361-5p	CLIP-seq
MIRT864442	hsa-miR-3646	CLIP-seq
MIRT864443	hsa-miR-3662	CLIP-seq
MIRT864444	hsa-miR-3685	CLIP-seq
MIRT864445	hsa-miR-3689a-5p	CLIP-seq
MIRT864446	hsa-miR-3689b	CLIP-seq
MIRT864447	hsa-miR-3689e	CLIP-seq
MIRT864448	hsa-miR-3689f	CLIP-seq
MIRT864449	hsa-miR-369-3p	CLIP-seq
MIRT864450	hsa-miR-374a	CLIP-seq
MIRT864451	hsa-miR-374b	CLIP-seq
MIRT864452	hsa-miR-380	CLIP-seq
MIRT864453	hsa-miR-384	CLIP-seq
MIRT864454	hsa-miR-3907	CLIP-seq
MIRT864455	hsa-miR-4271	CLIP-seq
MIRT864456	hsa-miR-4275	CLIP-seq
MIRT864457	hsa-miR-4282	CLIP-seq
MIRT864458	hsa-miR-4297	CLIP-seq
MIRT864459	hsa-miR-4303	CLIP-seq
MIRT864460	hsa-miR-4495	CLIP-seq
MIRT864461	hsa-miR-4667-5p	CLIP-seq
MIRT864462	hsa-miR-4680-3p	CLIP-seq
MIRT864463	hsa-miR-4682	CLIP-seq
MIRT864464	hsa-miR-4700-5p	CLIP-seq
MIRT864465	hsa-miR-4712-3p	CLIP-seq
MIRT864466	hsa-miR-4717-5p	CLIP-seq
MIRT864467	hsa-miR-4725-3p	CLIP-seq
MIRT864468	hsa-miR-4762-3p	CLIP-seq
MIRT864469	hsa-miR-4795-3p	CLIP-seq
MIRT864470	hsa-miR-512-3p	CLIP-seq
MIRT864471	hsa-miR-513a-3p	CLIP-seq
MIRT864472	hsa-miR-543	CLIP-seq
MIRT864473	hsa-miR-548c-3p	CLIP-seq
MIRT864474	hsa-miR-576-5p	CLIP-seq
MIRT864475	hsa-miR-589	CLIP-seq
MIRT864476	hsa-miR-873	CLIP-seq
MIRT864477	hsa-miR-889	CLIP-seq
MIRT864478	hsa-miR-944	CLIP-seq
MIRT1956212	hsa-miR-1825	CLIP-seq
MIRT864430	hsa-miR-190	CLIP-seq
MIRT864431	hsa-miR-190b	CLIP-seq
MIRT1956213	hsa-miR-199a-5p	CLIP-seq
MIRT1956214	hsa-miR-199b-5p	CLIP-seq
MIRT864433	hsa-miR-30a	CLIP-seq
MIRT864434	hsa-miR-30b	CLIP-seq
MIRT864435	hsa-miR-30c	CLIP-seq
MIRT864436	hsa-miR-30d	CLIP-seq
MIRT864437	hsa-miR-30e	CLIP-seq
MIRT864438	hsa-miR-3143	CLIP-seq
MIRT864445	hsa-miR-3689a-5p	CLIP-seq
MIRT864446	hsa-miR-3689b	CLIP-seq
MIRT864447	hsa-miR-3689e	CLIP-seq
MIRT864448	hsa-miR-3689f	CLIP-seq
MIRT864452	hsa-miR-380	CLIP-seq
MIRT1956215	hsa-miR-3925-3p	CLIP-seq
MIRT864460	hsa-miR-4495	CLIP-seq
MIRT1956216	hsa-miR-4718	CLIP-seq
MIRT1956217	hsa-miR-4742-3p	CLIP-seq
MIRT864468	hsa-miR-4762-3p	CLIP-seq
MIRT1956218	hsa-miR-4764-3p	CLIP-seq
MIRT1956219	hsa-miR-508-5p	CLIP-seq
MIRT864472	hsa-miR-543	CLIP-seq
MIRT2193853	hsa-miR-3117-5p	CLIP-seq
MIRT1956216	hsa-miR-4718	CLIP-seq
MIRT1956217	hsa-miR-4742-3p	CLIP-seq
MIRT864425	hsa-miR-146a	CLIP-seq
MIRT864426	hsa-miR-146b-5p	CLIP-seq
MIRT2193853	hsa-miR-3117-5p	CLIP-seq
MIRT864439	hsa-miR-337-3p	CLIP-seq
MIRT2497103	hsa-miR-3651	CLIP-seq
MIRT864444	hsa-miR-3685	CLIP-seq
MIRT864453	hsa-miR-384	CLIP-seq
MIRT864457	hsa-miR-4282	CLIP-seq
MIRT864459	hsa-miR-4303	CLIP-seq
MIRT864463	hsa-miR-4682	CLIP-seq
MIRT864465	hsa-miR-4712-3p	CLIP-seq
MIRT1956216	hsa-miR-4718	CLIP-seq
MIRT1956217	hsa-miR-4742-3p	CLIP-seq
MIRT864468	hsa-miR-4762-3p	CLIP-seq
MIRT864471	hsa-miR-513a-3p	CLIP-seq
MIRT864473	hsa-miR-548c-3p	CLIP-seq
MIRT864475	hsa-miR-589	CLIP-seq
MIRT864477	hsa-miR-889	CLIP-seq
MIRT864425	hsa-miR-146a	CLIP-seq
MIRT864426	hsa-miR-146b-5p	CLIP-seq
MIRT2193853	hsa-miR-3117-5p	CLIP-seq
MIRT864439	hsa-miR-337-3p	CLIP-seq
MIRT864444	hsa-miR-3685	CLIP-seq
MIRT864453	hsa-miR-384	CLIP-seq
MIRT864457	hsa-miR-4282	CLIP-seq
MIRT864459	hsa-miR-4303	CLIP-seq
MIRT864463	hsa-miR-4682	CLIP-seq
MIRT864465	hsa-miR-4712-3p	CLIP-seq
MIRT1956216	hsa-miR-4718	CLIP-seq
MIRT1956217	hsa-miR-4742-3p	CLIP-seq
MIRT864468	hsa-miR-4762-3p	CLIP-seq
MIRT864471	hsa-miR-513a-3p	CLIP-seq
MIRT864473	hsa-miR-548c-3p	CLIP-seq
MIRT864475	hsa-miR-589	CLIP-seq

6 Show/Hide all (6)

Transcription factor	Regulation	Reference
EGR3	Activation	1906159
ETV1	Unknown	19763505
NFE2L2	Activation	22493435
PPARD	Activation	18048767
PPARG	Unknown	20075562
SP1	Unknown	11479230

80 Show/Hide all (80)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000302	Process	Response to reactive oxygen species	IEA
GO:0000302	Process	Response to reactive oxygen species	IMP	16644728
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0001657	Process	Ureteric bud development	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0001822	Process	Kidney development	IEA
GO:0004046	Function	Aminoacylase activity	IEA
GO:0004096	Function	Catalase activity	IBA
GO:0004096	Function	Catalase activity	IDA	7882369, 16644728, 18312938, 18379038
GO:0004096	Function	Catalase activity	IEA
GO:0004601	Function	Peroxidase activity	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005739	Component	Mitochondrion	IBA
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	8769411
GO:0005777	Component	Peroxisome	IDA	2895531, 9053548, 18379038, 19479899
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	ISS
GO:0005782	Component	Peroxisomal matrix	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006641	Process	Triglyceride metabolic process	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0009060	Process	Aerobic respiration	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009411	Process	Response to UV	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0009642	Process	Response to light intensity	IEA
GO:0009650	Process	UV protection	IMP	16644728, 17053817
GO:0010193	Process	Response to ozone	IEA
GO:0010288	Process	Response to lead ion	IEA
GO:0014823	Process	Response to activity	IEA
GO:0014854	Process	Response to inactivity	IEA
GO:0016020	Component	Membrane	HDA	16210410, 19946888
GO:0016209	Function	Antioxidant activity	IDA	10514471
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016684	Function	Oxidoreductase activity, acting on peroxide as acceptor	IEA
GO:0016684	Function	Oxidoreductase activity, acting on peroxide as acceptor	ISS
GO:0019899	Function	Enzyme binding	IPI	16781659
GO:0020027	Process	Hemoglobin metabolic process	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IDA	10656833, 11134921
GO:0020037	Function	Heme binding	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0032991	Component	Protein-containing complex	IPI	21976670
GO:0033189	Process	Response to vitamin A	IEA
GO:0033197	Process	Response to vitamin E	IEA
GO:0033591	Process	Response to L-ascorbic acid	IEA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0042542	Process	Response to hydrogen peroxide	IBA
GO:0042744	Process	Hydrogen peroxide catabolic process	IBA
GO:0042744	Process	Hydrogen peroxide catabolic process	IDA	18379038
GO:0042744	Process	Hydrogen peroxide catabolic process	IEA
GO:0042744	Process	Hydrogen peroxide catabolic process	IEA
GO:0042802	Function	Identical protein binding	IPI	21976670, 21988832, 29568061
GO:0042803	Function	Protein homodimerization activity	IDA	10656833
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IMP	16644728
GO:0045471	Process	Response to ethanol	IEA
GO:0046686	Process	Response to cadmium ion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050661	Function	NADP binding	IDA	10656833
GO:0051781	Process	Positive regulation of cell division	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0055093	Process	Response to hyperoxia	IEA
GO:0061692	Process	Cellular detoxification of hydrogen peroxide	IDA	18379038
GO:0062151	Component	Catalase complex	IPI	10656833
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070542	Process	Response to fatty acid	IEA
GO:0071363	Process	Cellular response to growth factor stimulus	IEA
GO:0072722	Process	Response to amitrole	IEA
GO:0080184	Process	Response to phenylpropanoid	IEA
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
115500	1516	ENSG00000121691

P04040

Protein name

Catalase (EC 1.11.1.6)

Protein function

Catalyzes the degradation of hydrogen peroxide (H(2)O(2)) generated by peroxisomal oxidases to water and oxygen, thereby protecting cells from the toxic effects of hydrogen peroxide (PubMed:7882369). Promotes growth of cells including T-cells, B

PDB

1DGB , 1DGF , 1DGG , 1DGH , 1F4J , 1QQW , 7P8W , 7VD9 , 8EL9 , 8HID , 8PVD , 8SGV , 8WZH , 8WZJ , 8WZK , 8WZM

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00199	Catalase	28 → 411	Catalase	Domain
PF06628	Catalase-rel	434 → 497	Catalase-related immune-responsive	Family

Sequence

MADSRDPASDQMQHWKEQRAAQKADVLTTGAGNPVGDKLNVITVGPRGPLLVQDVVFTDE
MAHFDRERIPERVVHAKGAGAFGYFEVTHDITKYSKAKVFEHIGKKTPIAVRFSTVAGES
GSADTVRDPRGFAVKFYTEDGNWDLVGNNTPIFFIRDPILFPSFIHSQKRNPQTHLKDPD
MVWDFWSLRPESLHQVSFLFSDRGIPDGHRHMNGYGSHTFKLVNANGEAVYCKFHYKTDQ
GIKNLSVEDAARLSQEDPDYGIRDLFNAIATGKYPSWTFYIQVMTFNQAETFPFNPFDLT
KVWPHKDYPLIPVGKLVLNRNPVNYFAEVEQIAFDPSNMPPGIEASPDKMLQGRLFAYPD
THRHRLGPNYLHIPVNCPYRARVANYQRDGPMCMQDNQGGAPNYYPNSFGAPEQQPSALE
HSIQYSGEVRRFNTANDDNVTQVRAFYVNVLNEEQRKRLCENIAGHLKDAQIFIQKKAVK
NFTEVHPDYGSHIQALLDKYNAEKPKNAIHTFVQSGSHLAAREKANL

Sequence length

527

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Tryptophan metabolism	Detoxification of Reactive Oxygen Species
Glyoxylate and dicarboxylate metabolism	Neutrophil degranulation
Metabolic pathways	Peroxisomal protein import
Carbon metabolism
FoxO signaling pathway
Peroxisome
Longevity regulating pathway
Longevity regulating pathway - multiple species
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Acatalasemia, japanese type	Pathogenic	rs761650208, rs1590302115	RCV000019165 RCV000022461	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Acatalasia	Pathogenic	rs2133181057	RCV000022462	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (87)
Acute myeloid leukemia	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGLE CLOSURE GLAUCOMA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC DISEASES	—	CTD, Disgenet CTD, Disgenet	25101153	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	22450443	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASEPTIC NECROSIS OF HEAD AND/OR NECK OF FEMUR	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPHYXIA NEONATORUM	—	CTD, Disgenet CTD, Disgenet	17963755	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	CTD, Disgenet CTD, Disgenet	18048809	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATOPIC RHINITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	15205966	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AVASCULAR NECROSIS OF BONE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET SYNDROME	—	CTD, Disgenet CTD, Disgenet	12074830	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONNEVIE-ULLRICH SYNDROME	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	17564305	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	25322848	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	33010264	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	11731445	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	39294077	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	11800590	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAT-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLESTASIS	—	CTD, Disgenet CTD, Disgenet	27989131	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER, MAJOR	—	CTD	20471444	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	CTD, Disgenet CTD, Disgenet	11117918	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	15111504	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	15111504, 15531508	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEUROPATHIES	—	CTD, Disgenet CTD, Disgenet	10780678	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIA, DRUG-INDUCED	—	CTD, Disgenet CTD, Disgenet	19109989	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EDEMA	—	CTD	19874808	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	10860543	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC ULCER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	35764155	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	21138464	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	16105639	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEREMIA	—	CTD, Disgenet CTD, Disgenet	10792963	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	11479740, 20667508, 21593737, 22228705	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTHYROIDISM	—	CTD, Disgenet CTD, Disgenet	23391542	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	CTD	15612528	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOSIS	—	CTD, Disgenet CTD, Disgenet	14580687	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, CHRONIC	—	CTD, Disgenet CTD, Disgenet	16518626, 19420110	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, ALCOHOLIC	—	CTD, Disgenet CTD, Disgenet	23274713	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUPUS ERYTHEMATOSUS, SYSTEMIC	—	CTD, Disgenet CTD, Disgenet	27497885	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, LARGE B-CELL, DIFFUSE	—	CTD	16081686	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSION, SINGLE EPISODE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	37426090	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MARFAN SYNDROME	—	CTD, Disgenet CTD, Disgenet	25101153	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MESOTHELIOMA	—	CTD	11283936	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	CTD, Disgenet CTD, Disgenet	21600015	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NECROSIS	—	CTD	17309078, 9548797	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	29718361	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC NEURITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS OF MEDIAL FEMORAL CONDYLE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS, POSTMENOPAUSAL	—	CTD, Disgenet CTD, Disgenet	17227729	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY HYPERTHYROIDISM	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	CTD, Disgenet CTD, Disgenet	12559600	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY EDEMA	—	CTD	15612528	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	CTD, Disgenet CTD, Disgenet	19684199	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT MAJOR DEPRESSIVE EPISODES	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHINITIS, ALLERGIC	—	CTD	29028686	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	18096215, 19616071, 20592767	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENILE CATARACT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	15245787, 15752349, 17383094, 18096215	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TURNER SYNDROME	—	CTD, Disgenet CTD, Disgenet	25101153	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	35893037	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URETERAL CALCULI	—	CTD, Disgenet CTD, Disgenet	24360074	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	35764155	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VITILIGO	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
SOD1	18	["Aortic disease","Jeune syndrome","Bonnevie-ullrich syndrome","Brain ischemia","Congestive heart failure","Diabetes mellitus","Hyperthyroidism","Fatty liver","Fatty liver, alcoholic","Genetic predisposition to disease","Hypotension","Kidney failure"]	4	["Peroxisome","Longevity regulating pathway - multiple species","Chemical carcinogenesis - reactive oxygen species","Detoxification of Reactive Oxygen Species"]	41	["CTD (Aortic disease)","Disgenet (Aortic disease)","CTD (Jeune syndrome)","Disgenet (Jeune syndrome)","Disgenet (Asthma)","CTD (Asthma)","Disgenet (Retinitis pigmentosa)","Disgenet (Bonnevie-ullrich syndrome)","CTD (Brain ischemia)","Disgenet (Brain ischemia)","Disgenet (Congestive heart failure)","CTD (Major depressive disorder)"]
SOD2	24	["Aortic disease","Jeune syndrome","Bonnevie-ullrich syndrome","Brain ischemia","Non-small-cell lung carcinoma","Renal cell carcinoma","Cardiomyopathy","Lung disease","Liver cirrhosis","Congestive heart failure","Diabetic neuropathy","Diffuse large b-cell lymphoma"]	6	["FoxO signaling pathway","Peroxisome","Longevity regulating pathway","Longevity regulating pathway - multiple species","Chemical carcinogenesis - reactive oxygen species","Detoxification of Reactive Oxygen Species"]	51	["CTD (Aortic disease)","Disgenet (Aortic disease)","CTD (Rheumatoid arthritis)","CTD (Jeune syndrome)","Disgenet (Jeune syndrome)","Disgenet (Asthma)","Disgenet (Systemic lupus erythematosus)","Disgenet (Bonnevie-ullrich syndrome)","CTD (Brain ischemia)","Disgenet (Brain ischemia)","CTD (Non-small-cell lung carcinoma)","CTD (Renal cell carcinoma)"]
NOS2	13	["Bonnevie-ullrich syndrome","Brain ischemia","Cholelithiasis","Liver cirrhosis","Congestive heart failure","Gastric ulcer","Seizures","Hyperemia","Kidney failure","Marfan syndrome","Necrosis","Status epilepticus"]	2	["Peroxisome","Peroxisomal protein import"]	30	["Disgenet (Asthma)","CTD (Asthma)","Disgenet (Bonnevie-ullrich syndrome)","CTD (Brain ischemia)","Disgenet (Brain ischemia)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","Disgenet (Congestive heart failure)","Disgenet (Diabetes mellitus type 2)","CTD (Diabetes mellitus type 2)","CTD (Hypertension)","Disgenet (Gastric ulcer)"]
NFE2L2	13	["Non-small-cell lung carcinoma","Cholelithiasis","Lung disease","Liver cirrhosis","Congestive heart failure","Diabetic neuropathy","Fatty liver","Fatty liver, alcoholic","Keratosis","Kidney failure","Necrosis","Pulmonary fibrosis"]	1	["Chemical carcinogenesis - reactive oxygen species"]	25	["CTD (Non-small-cell lung carcinoma)","CTD (Cholelithiasis)","Disgenet (Cholelithiasis)","Disgenet (Lung disease)","Disgenet (Congestive heart failure)","CTD (Diabetes mellitus type 2)","CTD (Diabetic neuropathy)","Disgenet (Diabetic neuropathy)","CTD (Hypertension)","Disgenet (Fatty liver)","CTD (Fatty liver)","Disgenet (Fatty liver, alcoholic)"]
PTGS2	18	["Jeune syndrome","Rhinitis","Brain ischemia","Renal cell carcinoma","Cardiomyopathy","Depression","Lung disease","Liver cirrhosis","Congestive heart failure","Diabetes mellitus","Edema","Gastric ulcer"]	0	[]	38	["CTD (Rheumatoid arthritis)","CTD (Jeune syndrome)","Disgenet (Jeune syndrome)","Disgenet (Asthma)","CTD (Asthma)","Disgenet (Rhinitis)","Disgenet (Systemic lupus erythematosus)","CTD (Systemic lupus erythematosus)","CTD (Brain ischemia)","Disgenet (Brain ischemia)","CTD (Renal cell carcinoma)","Disgenet (Cardiomyopathy)"]

CAT (catalase)

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