HSD11B1 (hydroxysteroid 11-beta dehydrogenase 1)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 3290
• Gene name: Hydroxysteroid 11-beta dehydrogenase 1
• Gene symbol: HSD11B1
• Synonyms (NCBI Gene): 11-DH, 11-beta-HSD1, CORTRD2, HDL, HSD11, HSD11B, HSD11L, SDR26C1
• Chromosome: 1
• Chromosome location: 1q32.2
• Summary: The protein encoded by this gene is a microsomal enzyme that catalyzes the conversion of the stress hormone cortisol to the inactive metabolite cortisone. In addition, the encoded protein can catalyze the reverse reaction, the conversion of cortisone to c

miRNA Show/Hide all (11)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018628	hsa-miR-335-5p	Microarray	18185580
MIRT030055	hsa-miR-26b-5p	Microarray	19088304
MIRT2012660	hsa-miR-326	CLIP-seq
MIRT2012661	hsa-miR-330-5p	CLIP-seq
MIRT2245009	hsa-miR-132	CLIP-seq
MIRT2245010	hsa-miR-212	CLIP-seq
MIRT2245011	hsa-miR-4330	CLIP-seq
MIRT2245012	hsa-miR-4773	CLIP-seq
MIRT2245013	hsa-miR-577	CLIP-seq
MIRT2012660	hsa-miR-326	CLIP-seq
MIRT2012661	hsa-miR-330-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005496	Function	Steroid binding	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	10497248
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006706	Process	Steroid catabolic process	IBA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0030324	Process	Lung development	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	15513927, 17919905, 18069989, 18485702, 18553955, 19217779
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0047022	Function	7-beta-hydroxysteroid dehydrogenase (NADP+) activity	IEA
GO:0050661	Function	NADP binding	IDA	15513927, 17919905, 18069989, 18485702, 18553955, 19217779
GO:0070524	Function	11-beta-hydroxysteroid dehydrogenase (NADP+) activity	IBA
GO:0070524	Function	11-beta-hydroxysteroid dehydrogenase (NADP+) activity	IDA	10497248, 15152005, 17070044, 17919905
GO:0070524	Function	11-beta-hydroxysteroid dehydrogenase (NADP+) activity	IEA
GO:0102196	Function	Cortisol dehydrogenase (NADP+) activity	IEA

Other IDs

• MIM: 600713
• HGNC: 5208
• e!Ensembl: ENSG00000117594

Protein

• UniProt ID: P28845
• Protein name: 11-beta-hydroxysteroid dehydrogenase 1 (11-DH) (11-beta-HSD1) (EC 1.1.1.146) (7-oxosteroid reductase) (EC 1.1.1.201) (Corticosteroid 11-beta-dehydrogenase isozyme 1) (Short chain dehydrogenase/reductase family 26C member 1)
• Protein function: Controls the reversible conversion of biologically active glucocorticoids such as cortisone to cortisol, and 11-dehydrocorticosterone to corticosterone in the presence of NADP(H) (PubMed:10497248, PubMed:12460758, PubMed:14973125, PubMed:1515200
• PDB: 1XU7 , 1XU9 , 2BEL , 2ILT , 2IRW , 2RBE , 3BYZ , 3BZU , 3CH6 , 3CZR , 3D3E , 3D4N , 3D5Q , 3EY4 , 3FCO , 3FRJ , 3H6K , 3HFG , 3OQ1 , 3PDJ , 3QQP , 3TFQ , 4BB5 , 4BB6 , 4C7J , 4C7K , 4HFR , 4HX5 , 4IJU , 4IJV , 4IJW , 4K1L , 4P38 , 4YYZ , 5PGU , 5PGV , 5PGW , 5PGX , 5PGY , 5QII
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00106	adh_short	35 → 230	short chain dehydrogenase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, highest expression in liver, lower in testis, ovary, lung, foreskin fibroblasts, and much lower in kidney (PubMed:1885595). Expressed in liver (at protein level) (PubMed:21453287). Expressed in the basal cells of the
• Sequence:

  MAFMKKYLLPILGLFMAYYYYSANEEFRPEMLQGKKVIVTGASKGIGREMAYHLAKMGAH
  VVVTARSKETLQKVVSHCLELGAASAHYIAGTMEDMTFAEQFVAQAGKLMGGLDMLILNH
  ITNTSLNLFHDDIHHVRKSMEVNFLSYVVLTVAALPMLKQSNGSIVVVSSLAGKVAYPMV
  AAYSASKFALDGFFSSIRKEYSVSRVNVSITLCVLGLIDTETAMKAVSGIVHMQAAPKEE
  CALEIIKGGALRQEEVYYDSSLWTTLLIRNPCRKILEFLYSTSYNMDRFINK

• Sequence length: 292

Pathways

KEGG Pathway	Reactome Pathway
Steroid hormone biosynthesis	Glucocorticoid biosynthesis
Metabolism of xenobiotics by cytochrome P450
Metabolic pathways
Chemical carcinogenesis - DNA adducts

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cortisone reductase deficiency 2	Pathogenic	rs387907168, rs756817759	RCV000024294 RCV000024295	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (18)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ARTHRITIS, RHEUMATOID	—	CTD	19192274	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTISONE REDUCTASE DEFICIENCY	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	21325058, 25526675	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ALLERGIC CONTACT	—	CTD, Disgenet CTD, Disgenet	16033404	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exstrophy-epispadias complex	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HSD11B1-related disorder	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERANDROGENISM DUE TO CORTISONE REDUCTASE DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	21325058	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	CTD, Disgenet CTD, Disgenet	14697232	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	15199296, 21786805, 9683905	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANCE	—	CTD	21786805	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	CTD, Disgenet CTD, Disgenet	17628001, 21786805	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY, ABDOMINAL	—	CTD	15199296	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OMPHALOCELE EXSTROPHY IMPERFORATE ANUS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (167)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acromegaly	Acromegaly	BEFREE	31801917		★☆☆☆☆ Found in Text Mining only
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	21111044		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	26800219		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	22411584, 24976539		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	12109593		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	12574226		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	12574226, 21111044		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	18031327		★☆☆☆☆ Found in Text Mining only
Adult Craniopharyngioma	Craniopharyngioma	BEFREE	29975580		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	28332910		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	29047245		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	14583441	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	28818766, 30386171		★☆☆☆☆ Found in Text Mining only
Amnesia	Amnesia	BEFREE	30877174		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	26305888		★☆☆☆☆ Found in Text Mining only
Apparent mineralocorticoid excess	Apparent Mineralocorticoid Excess	BEFREE	8370690		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	11943562, 15306172, 18607186, 28259375, 29053671, 30347343		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	28676523, 29386227, 29891135		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18420938	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	11943562, 15306172, 18607186, 28259375, 29053671, 30347343		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	28911508		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	21304964	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	32127416	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	28752602	Stimulate	★☆☆☆☆ Found in Text Mining only
Body Weight	Body weight	Pubtator	26239572	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases Metabolic Inborn	Brain disease	Pubtator	15536220	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	18611262, 31610224		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18611262, 35844785	Associate	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	BEFREE	28887719		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26414287	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	31886185	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	34845968	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	17712112	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	19421056, 22310475, 23007990, 23212335, 28301373, 30347343, 31350818		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	BEFREE	28887719		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	10726708		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25766837		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	30446829		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	24810847		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24061267		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15172126		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	12858176, 15827106, 16817821, 17062770, 18628520, 21325058, 23132696		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	Pubtator	21915484	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	27553202		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	21740787, 23007990, 23009206		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21740787, 23007990, 23009206, 24082102		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	23007990	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	23009206	Stimulate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	21740787, 23007990		★☆☆☆☆ Found in Text Mining only
Cortisone reductase deficiency	Cortisone Reductase Deficiency	BEFREE	15827106, 16091483, 17062770, 22238371, 23132696		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortisone reductase deficiency	Cortisone reductase deficiency	Pubtator	18628520, 22238371, 23132696	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortisone reductase deficiency	Cortisone Reductase Deficiency	ORPHANET_DG	21325058		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cortisone reductase deficiency	Cortisone Reductase Deficiency	CTD_human_DG	25526675		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTISONE REDUCTASE DEFICIENCY 2	Cortisone Reductase Deficiency	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Craniopharyngioma	Craniopharyngioma	BEFREE	29975580		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	24810847		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	21111044, 21704348, 23735216, 23869418, 24915124		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	28565823		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	29248595, 29251794		★☆☆☆☆ Found in Text Mining only
Depression, Postpartum	Mental Depression	BEFREE	30776573		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	22112815, 30776573, 31704233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	22112815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	28752602	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	CTD_human_DG	16033404		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis, Atopic	Dermatitis	BEFREE	29023418		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	21949844		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21869537, 26212264, 27381417, 28458655, 29221204, 29425740, 31759849		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	16814782, 21869537, 22056417, 26308294	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21869537, 26212264, 27381417, 28458655, 29084567, 29221204, 29425740, 31759849		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	15513927, 18852329, 26671915	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30922315, 31092010		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15156315, 18963204, 19571556, 19934376, 21117953, 21315688, 21402901, 21622477, 21869537, 23799899, 24710966, 28386332, 28750217, 28751144, 29078846, 29221204, 30096297, 30678666, 30796905, 31664610		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	15156315		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	29221204		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	23040895, 24182335	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	23869418		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	29023418		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	39387602	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	22521153, 39387602	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	26671915		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Hypertension	Hypertension	Pubtator	26671915	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	BEFREE	27715400		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	22363403, 31503515		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	30388854		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28687341, 28887719, 31494147, 31759849		★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	27553202		★☆☆☆☆ Found in Text Mining only
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	22363403	Stimulate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	38143086	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	21622477		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	26452272	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism due to cortisone reductase deficiency	Hyperandrogenism	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	CTD_human_DG	14697232		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	29221204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	20889503		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	29418022		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	17283228	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	23659736, 24182335	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	10726708, 19934376, 21402901, 21622477, 23586038, 28750217, 29138984		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	15199296, 21786805, 9683905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	15452033		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophy	Hypertrophy	Pubtator	17283228	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Hypoalphalipoproteinemia	BEFREE	29866657		★☆☆☆☆ Found in Text Mining only
Hypocholesterolemia	Hypocholesterolemia	BEFREE	31487458		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23612224, 28012176, 28818766, 29162555, 29611102		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28932959, 30686824		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	14742837	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	17030962, 19050176, 22384521, 23040895, 24182335, 34639470	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	28932959		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	10726708		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	21402901		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26414287, 26700460		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	31350818		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	29064428		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	18611262, 31610224		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	26251134		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	30302860		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24061267, 28301373, 28797028, 30302860		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28974560, 30823658		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	22112815, 30776573, 31704233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	22112815		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	29306773, 31677354		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	14742837, 20041117, 23040895	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	20045052, 21704348, 28445389, 28751144, 28765040, 29206210, 29879989, 30689943		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	16855188, 23007990	Stimulate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	17283228, 17712112, 21869537, 22384521, 23212335, 25751397, 26980090, 38143086	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19934376, 21315688, 21622477, 21869537, 21873057, 21964795, 22384521, 22433622, 23007990, 23212335, 23586038, 23612224, 23869418, 24710966, 25389364, 25751397, 26980090, 28750217, 28751144, 28765040, 28915330, 28944856, 29206210, 29251794, 30096297, 30796905, 31664610		★☆☆☆☆ Found in Text Mining only
Mineralocorticoid Excess Syndrome, Apparent	Mineralocorticoid Excess Syndrome	BEFREE	10726708		★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	30877174		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	32185610	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	35292727	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27553202		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	27578244		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	26163245, 30446829		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22719058, 26700460		★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	27721188		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	23375992, 27715400, 27973460, 29743929		★☆☆☆☆ Found in Text Mining only
Non-Functioning Pituitary Gland Neoplasm	Pituitary adenoma	BEFREE	29975580		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12414862, 15156315, 16551740, 17343766, 19571556, 19934376, 20045052, 20381186, 20826586, 21117953, 21147223, 21402901, 21622477, 21704348, 21964795, 22310475, 22692684, 23701286, 24078163, 24710966, 24729284, 25603461, 27698011, 28765040, 29078846, 29206210, 29418022, 30689943, 31399502, 31677354		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	14742837, 15181046, 15513927, 15897475, 16460444, 17030962, 17426324, 18611262, 19360009, 19564704, 20041117, 22056417, 22384521, 22797372, 23007990, 23040895, 23190557, 23778418, 23836520, 26239572, 27698011	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	16855188, 17712112, 18852329, 23009206	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	CTD_human_DG	17628001, 21786805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity Abdominal	Obesity	Pubtator	15536220, 21869537	Associate	★☆☆☆☆ Found in Text Mining only
Obesity Morbid	Obesity	Pubtator	26239572	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	29434601, 31420008		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	LHGDN	12915682		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	19651257, 22957024, 23612224		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	22957024	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	BEFREE	24285685		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	BEFREE	24285685		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	22719058		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31902257	Associate	★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	24729284		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	29471911		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	15827106, 16817821, 21147223, 21622477, 22238371, 23979790, 24969481, 26452272		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	19542736, 26452272	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	31902257	Stimulate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	29248595, 29251794		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	26251134		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	19192274		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25227721, 29891135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcopenia	Sarcopenia	Pubtator	24391882	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27715400, 31503515		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	29891135		★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	39387602	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin A Deficiency	Vitamin A Deficiency	BEFREE	31613407		★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	24096962		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

H6PD 2 shared diseasesCortisone reductase deficiency, Hyperandrogenism 7 shared evidence sourcesCTD (Cortisone reductase deficiency), Disgenet (Cortisone reductase deficiency), GWAS catalog (Cortisone reductase deficiency), ClinVar (Cortisone reductase deficiency), HPO (Cortisone reductase deficiency), Disgenet (Hyperandrogenism), Orphanet (Hyperandrogenism) Related via 2 shared diseases including Cortisone reductase deficiency, Hyperandrogenism — evidence mostly Disgenet. PRDX4 2 shared diseasesAllergic contact dermatitis, Hyperglycemia 4 shared evidence sourcesCTD (Allergic contact dermatitis), Disgenet (Allergic contact dermatitis), CTD (Hyperglycemia), Disgenet (Hyperglycemia) Related via 2 shared diseases including Allergic contact dermatitis, Hyperglycemia — evidence mostly CTD. HSD11B1L 3 shared pathwaysSteroid hormone biosynthesis, Metabolism of xenobiotics by cytochrome P450, Chemical carcinogenesis - DNA adducts Related via 3 shared pathways including Steroid hormone biosynthesis, Metabolism of xenobiotics by cytochrome P450. ITGAM 2 shared diseasesAllergic contact dermatitis, Hyperglycemia 7 shared evidence sourcesDisgenet (Obesity), CTD (Allergic contact dermatitis), Disgenet (Allergic contact dermatitis), CTD (Diabetes mellitus type 2), CTD (Hyperglycemia), Disgenet (Hyperglycemia), CTD (Obesity) Related via 2 shared diseases including Allergic contact dermatitis, Hyperglycemia — evidence mostly CTD. FCGR3B 2 shared diseasesAllergic contact dermatitis, Hyperglycemia 3 shared evidence sourcesCTD (Allergic contact dermatitis), CTD (Hyperglycemia), CTD (Obesity) Related via 2 shared diseases including Allergic contact dermatitis, Hyperglycemia — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
H6PD	2	["Cortisone reductase deficiency","Hyperandrogenism"]	0	[]	7	["CTD (Cortisone reductase deficiency)","Disgenet (Cortisone reductase deficiency)","GWAS catalog (Cortisone reductase deficiency)","ClinVar (Cortisone reductase deficiency)","HPO (Cortisone reductase deficiency)","Disgenet (Hyperandrogenism)","Orphanet (Hyperandrogenism)"]
PRDX4	2	["Allergic contact dermatitis","Hyperglycemia"]	0	[]	4	["CTD (Allergic contact dermatitis)","Disgenet (Allergic contact dermatitis)","CTD (Hyperglycemia)","Disgenet (Hyperglycemia)"]
HSD11B1L	0	[]	3	["Steroid hormone biosynthesis","Metabolism of xenobiotics by cytochrome P450","Chemical carcinogenesis - DNA adducts"]	0	[]
ITGAM	2	["Allergic contact dermatitis","Hyperglycemia"]	0	[]	7	["Disgenet (Obesity)","CTD (Allergic contact dermatitis)","Disgenet (Allergic contact dermatitis)","CTD (Diabetes mellitus type 2)","CTD (Hyperglycemia)","Disgenet (Hyperglycemia)","CTD (Obesity)"]
FCGR3B	2	["Allergic contact dermatitis","Hyperglycemia"]	0	[]	3	["CTD (Allergic contact dermatitis)","CTD (Hyperglycemia)","CTD (Obesity)"]

Diseases Linked via Similar Genes

Hyperinsulinism Linked via 2 of 5 related genesITGAM, FCGR3B Systemic lupus erythematosus Linked via 2 of 5 related genesITGAM, FCGR3B Lupus nephritis Linked via 2 of 5 related genesITGAM, FCGR3B Systemic sclerosis Linked via 2 of 5 related genesITGAM, FCGR3B Asthma Linked via 1 of 5 related genesH6PD

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Hyperinsulinism	2	["ITGAM","FCGR3B"]
Systemic lupus erythematosus	2	["ITGAM","FCGR3B"]
Lupus nephritis	2	["ITGAM","FCGR3B"]
Systemic sclerosis	2	["ITGAM","FCGR3B"]
Asthma	1	["H6PD"]