SCNN1B (sodium channel epithelial 1 subunit beta)

Gene

• Entrez ID: 6338
• Gene name: Sodium channel epithelial 1 subunit beta
• Gene symbol: SCNN1B
• Synonyms (NCBI Gene): BESC1, ENaCb, ENaCbeta, LIDLS1, PHA1B2, SCNEB, beta-ENaC, beta-NaCH
• Chromosome: 16
• Chromosome location: 16p12.2
• Summary: Nonvoltage-gated, amiloride-sensitive, sodium channels control fluid and electrolyte transport across epithelia in many organs. These channels are heteromeric complexes consisting of 3 subunits: alpha, beta, and gamma. This gene encodes the beta subunit,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs35731153	C>G	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs72654338	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs80311498	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs137852704	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs137852707	T>C	Pathogenic	Coding sequence variant, missense variant
rs137852708	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852709	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852710	G>A	Pathogenic	Coding sequence variant, missense variant
rs137852711	C>A	Pathogenic	Intron variant, coding sequence variant, missense variant
rs137852712	A>G	Pathogenic	Coding sequence variant, missense variant
rs149868979	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs387906402	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs536187488	C>T	Pathogenic	Missense variant, coding sequence variant
rs758629218	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs1182475940	C>A,G	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1555489114	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555490554	G>T	Pathogenic	Stop gained, coding sequence variant
rs1567321736	->GC	Pathogenic	Frameshift variant, coding sequence variant
rs1596894031	A>G	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1330418	hsa-miR-4777-5p	CLIP-seq
MIRT1330419	hsa-miR-518d-5p	CLIP-seq
MIRT1330420	hsa-miR-519b-5p	CLIP-seq
MIRT1330421	hsa-miR-519c-5p	CLIP-seq
MIRT1330422	hsa-miR-520c-5p	CLIP-seq
MIRT1330423	hsa-miR-526a	CLIP-seq
MIRT2097844	hsa-miR-185	CLIP-seq
MIRT2097845	hsa-miR-3176	CLIP-seq
MIRT2097846	hsa-miR-3922-3p	CLIP-seq
MIRT2097847	hsa-miR-4306	CLIP-seq
MIRT2097848	hsa-miR-4644	CLIP-seq
MIRT2458979	hsa-miR-1913	CLIP-seq
MIRT2458980	hsa-miR-3189-5p	CLIP-seq
MIRT2458981	hsa-miR-324-3p	CLIP-seq
MIRT2458982	hsa-miR-4758-3p	CLIP-seq
MIRT2458979	hsa-miR-1913	CLIP-seq
MIRT2458980	hsa-miR-3189-5p	CLIP-seq
MIRT2458981	hsa-miR-324-3p	CLIP-seq
MIRT2458982	hsa-miR-4758-3p	CLIP-seq
MIRT2618522	hsa-miR-132	CLIP-seq
MIRT2618523	hsa-miR-212	CLIP-seq
MIRT2618524	hsa-miR-3174	CLIP-seq
MIRT2618525	hsa-miR-4276	CLIP-seq
MIRT2618526	hsa-miR-4709-5p	CLIP-seq
MIRT2618527	hsa-miR-604	CLIP-seq
MIRT2618528	hsa-miR-647	CLIP-seq
MIRT2618529	hsa-miR-767-3p	CLIP-seq
MIRT2618522	hsa-miR-132	CLIP-seq
MIRT2618523	hsa-miR-212	CLIP-seq
MIRT2618524	hsa-miR-3174	CLIP-seq
MIRT2618525	hsa-miR-4276	CLIP-seq
MIRT2618526	hsa-miR-4709-5p	CLIP-seq
MIRT2618527	hsa-miR-604	CLIP-seq
MIRT2618528	hsa-miR-647	CLIP-seq
MIRT2618529	hsa-miR-767-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
SP1	Unknown	11934701

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002269	Process	Leukocyte activation involved in inflammatory response	IEA
GO:0002283	Process	Neutrophil activation involved in immune response	IEA
GO:0003014	Process	Renal system process	IEA
GO:0005272	Function	Sodium channel activity	IDA	24124190, 32729833
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11244092, 11359767, 20237237, 21765395, 22493497, 39009827
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	24124190
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	24419567
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006883	Process	Intracellular sodium ion homeostasis	IDA	16423824
GO:0006883	Process	Intracellular sodium ion homeostasis	IEA
GO:0008217	Process	Regulation of blood pressure	NAS	24419567
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014824	Process	Artery smooth muscle contraction	IEA
GO:0015280	Function	Ligand-gated sodium channel activity	IBA
GO:0015280	Function	Ligand-gated sodium channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	18174164
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032094	Process	Response to food	IEA
GO:0032341	Process	Aldosterone metabolic process	IEA
GO:0034101	Process	Erythrocyte homeostasis	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034706	Component	Sodium channel complex	IBA
GO:0034706	Component	Sodium channel complex	IDA	16423824, 17502380, 24124190, 32729833
GO:0034706	Component	Sodium channel complex	IEA
GO:0034706	Component	Sodium channel complex	IPI	21775436
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	24124190
GO:0042045	Process	Epithelial fluid transport	IEA
GO:0050699	Function	WW domain binding	IEA
GO:0050699	Function	WW domain binding	IPI	10642508
GO:0050891	Process	Multicellular organismal-level water homeostasis	IDA	24124190
GO:0050891	Process	Multicellular organismal-level water homeostasis	IEA
GO:0050891	Process	Multicellular organismal-level water homeostasis	IEA
GO:0050914	Process	Sensory perception of salty taste	NAS	22983350
GO:0050915	Process	Sensory perception of sour taste	NAS	22983350
GO:0055075	Process	Potassium ion homeostasis	IEA
GO:0055078	Process	Sodium ion homeostasis	IDA	24124190
GO:0055078	Process	Sodium ion homeostasis	IEA
GO:0070062	Component	Extracellular exosome	IDA	15326289
GO:0070062	Component	Extracellular exosome	IEA
GO:0070254	Process	Mucus secretion	IEA
GO:0070944	Process	Neutrophil-mediated killing of bacterium	IEA
GO:0071468	Process	Cellular response to acidic pH	IDA	16423824
GO:0071468	Process	Cellular response to acidic pH	IEA
GO:0098719	Process	Sodium ion import across plasma membrane	IDA	16423824
GO:0098719	Process	Sodium ion import across plasma membrane	IEA
GO:1904045	Process	Cellular response to aldosterone	IEA
GO:1904045	Process	Cellular response to aldosterone	NAS	24419567
GO:1904117	Process	Cellular response to vasopressin	NAS	24419567

Other IDs

• MIM: 600760
• HGNC: 10600
• e!Ensembl: ENSG00000168447

Protein

• UniProt ID: P51168
• Protein name: Epithelial sodium channel subunit beta (Beta-ENaC) (ENaC subunit beta) (ENaCB) (Epithelial Na(+) channel subunit beta) (Amiloride-sensitive sodium channel subunit beta) (Beta-NaCH) (Nonvoltage-gated sodium channel 1 subunit beta) (SCNEB)
• Protein function: This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis (PubMed:30251954, PubMed:32729833, PubMed:7762608, PubMed:9792722). ENaC operates
• PDB: 6BQN, 6WTH, 9BLR, 9BTG, 9BTU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00858	ASC	29 → 543	Amiloride-sensitive sodium channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in placenta, lung and kidney (PubMed:7762608). Expressed in kidney (at protein level) (PubMed:22207244). {ECO:0000269|PubMed:22207244, ECO:0000269|PubMed:7762608}.
• Sequence:

  MHVKKYLLKGLHRLQKGPGYTYKELLVWYCDNTNTHGPKRIICEGPKKKAMWFLLTLLFA
  ALVCWQWGIFIRTYLSWEVSVSLSVGFKTMDFPAVTICNASPFKYSKIKHLLKDLDELME
  AVLERILAPELSHANATRNLNFSIWNHTPLVLIDERNPHHPMVLDLFGDNHNGLTSSSAS
  EKICNAHGCKMAMRLCSLNRTQCTFRNFTSATQALTEWYILQATNIFAQVPQQELVEMSY
  PGEQMILACLFGAEPCNYRNFTSIFYPHYGNCYIFNWGMTEKALPSANPGTEFGLKLILD
  IGQEDYVPFLASTAGVRLMLHEQRSYPFIRDEGIYAMSGTETSIGVLVDKLQRMGEPYSP
  CTVNGSEVPVQNFYSDYNTTYSIQACLRSCFQDHMIRNCNCGHYLYPLPRGEKYCNNRDF
  PDWAHCYSDLQMSVAQRETCIGMCKESCNDTQYKMTISMADWPSEASEDWIFHVLSQERD
  QSTNITLSRKGIVKLNIYFQEFNYRTIEESAANNIVWLLSNLGGQFGFWMGGSVLCLIEF
  GEIIIDFVWITIIKLVALAKSLRQRRAQASYAGPPPTVAELVEAHTNFGFQPDTAPRSPN
  TGPYPSEQALPIPGTPPPNYDSLRLQPLDVIESDSEGDAI

• Sequence length: 640

Pathways

KEGG:

Taste transduction
Aldosterone-regulated sodium reabsorption

Reactome:

Stimuli-sensing channels

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
Bronchiectasis with or without elevated sweat chloride 1	Likely pathogenic; Pathogenic	rs747116196, rs137852704, rs387906402, rs137852708, rs137852709, rs1596894031, rs137852710, rs536187488	RCV001849569 RCV005003349 RCV005016252 RCV005016253 RCV000009386 RCV000009387 RCV000009389 RCV005021299	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Liddle syndrome 1	Likely pathogenic; Pathogenic	rs747116196, rs2506514869, rs137852704, rs387906402, rs137852707, rs2142050610, rs137852708, rs137852709, rs536187488	RCV005005282 RCV002281807 RCV000009378 RCV000009379 RCV000009381 RCV000009383 RCV000009384 RCV000009385 RCV002496312 RCV005021299	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Opsoclonus-myoclonus syndrome	Likely pathogenic	rs2506512755	RCV002286329	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism, type IB1, autosomal recessive	Pathogenic; Likely pathogenic	rs2142020387, rs137852709, rs1182475940	RCV001837048 RCV002496312 RCV000578168	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism, type IB2, autosomal recessive	Likely pathogenic; Pathogenic	rs747116196, rs137852704, rs387906402, rs137852708, rs1962240610, rs2506496434, rs2506410452, rs2506496921, rs536187488, rs550424284	RCV005005282 RCV005003349 RCV005016252 RCV005016253 RCV003324626 RCV003447445 RCV003447446 RCV003447447 RCV005021299 RCV003229567	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SCNN1B-related disorder	Likely pathogenic; Pathogenic	rs2506491717, rs752797855, rs550424284	RCV003397812 RCV003982815 RCV004751879	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC KETOACIDOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC BRONCHIECTASIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIDDLE SYNDROME	—	CTD, Disgenet, GenCC, Orphanet CTD, Disgenet, GenCC, Orphanet CTD, Disgenet, GenCC, Orphanet CTD, Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Low renin, low aldosterone hypertension	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG DISEASES, OBSTRUCTIVE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pruritus, hereditary localized	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOALDOSTERONISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bartter Disease	Bartter syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	LHGDN	18507830		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	18507830, 33526882	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	GENOMICS_ENGLAND_DG	23837941		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34111567	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34659450	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	36899055	Associate	★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35093172	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36564468	Inhibit	★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	30496127		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	CTD_human_DG	16207733, 16463024		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16463024, 19017867, 20711182, 21658636, 23377346, 23600628, 24678594, 25900089, 26160865, 26265620, 28481660, 29058463, 29860639, 29936069, 30655278		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	LHGDN	16463024, 17766193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic fibrosis	Pubtator	17560176, 18507830, 19017867, 25900089, 31532390, 33384439, 34680949, 35462606	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eosinophilia	Eosinophilia	BEFREE	27865862, 31499011		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	15661075, 18184758	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	24888492, 27840946		★☆☆☆☆ Found in Text Mining only
Fibrocystic Disease of Pancreas	Cystic fibrosis of pancreas	CTD_human_DG	16207733, 16463024		★☆☆☆☆ Found in Text Mining only
Generalized pseudohypoaldosteronism type 1	Pseudohypoaldosteronism	Orphanet			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37334354	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypernatriuria	Hypernatriuria	BEFREE	30050465		★☆☆☆☆ Found in Text Mining only
Hyperpotassemia and Hypertension, Familial	Hyperpotassemia And Hypertension	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	15198480, 15661075, 21107496, 27900368, 29580127, 29792170, 32698182, 36899055	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertension Renovascular	Renovascular hypertension	Pubtator	15198480	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension, Renovascular	Hypertension	BEFREE	15198480		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	12714866, 15661075, 17586416		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	15174897, 15198480, 17634077, 18184758, 20064610, 21107496, 24553299, 25378078, 28052878, 28915228, 31805646, 8824886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	15174897, 15198480, 19344079		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypokalemic alkalosis	Hypokalemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	18443236	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liddle Syndrome	Liddle syndrome	Pubtator	15198480, 15661075, 27900368, 29792170, 31437854, 31655555, 32698182, 34223773	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liddle Syndrome	Liddle Syndrome	UNIPROT_DG	15483078, 7550319, 8524790, 8601645, 9626162, 9794716		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liddle Syndrome	Liddle Syndrome	GENOMICS_ENGLAND_DG	15483078		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liddle Syndrome	Liddle Syndrome	BEFREE	16943574, 17634077, 18398334, 19344079, 20064610, 21107496, 22613642, 22809657, 24474657, 25378078, 28718682, 30496127, 8824886		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liddle Syndrome	Liddle Syndrome	CTD_human_DG	18398334, 19344079		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liddle Syndrome	Liddle Syndrome	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liddle syndrome	Liddle Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	CTD_human_DG	16207733		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	BEFREE	16463024, 21658636, 30655278		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases	Lung disease	Pubtator	17560176, 18507830	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Diseases, Obstructive	Lung Diseases	BEFREE	25204199, 31499011		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28202509		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28202509		★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28202509		★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	29579396		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	21611967	Associate	★☆☆☆☆ Found in Text Mining only
Pelger-Huet Anomaly	Pelger-Huet Anomaly	BEFREE	12107247, 20064610		★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism	Pseudohypoaldosteronism	LHGDN	12107247, 12204893		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism	Pseudohypoaldosteronism	BEFREE	20064610, 29107074		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism	Pseudohypoparathyroidism	Pubtator	23762408, 27900368	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism	Pseudohypoaldosteronism	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism	Pseudohypoaldosteronism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I	Pseudohypoaldosteronism	BEFREE	23416952, 31018202		★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type I	Pseudohypoaldosteronism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Pseudohypoaldosteronism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Pseudohypoaldosteronism	GENOMICS_ENGLAND_DG	15483078, 23837941, 31018202		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Pseudohypoaldosteronism	ORPHANET_DG	19571553, 23426840		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Pseudohypoaldosteronism	UNIPROT_DG	8589714		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Pseudohypoaldosteronism	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type II	Pseudohypoaldosteronism	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	34223773	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Cystic Fibrosis	Pulmonary Cystic Fibrosis	CTD_human_DG	16207733, 16463024		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25329998	Associate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	18639284		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28202509		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31959204	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32698182	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	LHGDN	15188166		★☆☆☆☆ Found in Text Mining only