SCNN1A (sodium channel epithelial 1 subunit alpha)

Gene

• Entrez ID: 6337
• Gene name: Sodium channel epithelial 1 subunit alpha
• Gene symbol: SCNN1A
• Synonyms (NCBI Gene): BESC2, ENaCa, ENaCalpha, LIDLS3, PHA1B1, SCNEA, SCNN1
• Chromosome: 12
• Chromosome location: 12p13.31
• 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 alpha subunit,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs142439390	C>T	Pathogenic	Splice donor variant
rs1592074026	T>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT438382	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25173609
MIRT438382	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25173609
MIRT438382	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25173609
MIRT438382	hsa-miR-125b-5p	Luciferase reporter assay, qRT-PCR, Western blot	25173609
MIRT1330375	hsa-miR-1224-3p	CLIP-seq
MIRT1330376	hsa-miR-1260	CLIP-seq
MIRT1330377	hsa-miR-1260b	CLIP-seq
MIRT1330378	hsa-miR-1280	CLIP-seq
MIRT1330379	hsa-miR-153	CLIP-seq
MIRT1330380	hsa-miR-1827	CLIP-seq
MIRT1330381	hsa-miR-2110	CLIP-seq
MIRT1330382	hsa-miR-2117	CLIP-seq
MIRT1330383	hsa-miR-2682	CLIP-seq
MIRT1330384	hsa-miR-3065-3p	CLIP-seq
MIRT1330385	hsa-miR-3128	CLIP-seq
MIRT1330386	hsa-miR-3150a-3p	CLIP-seq
MIRT1330387	hsa-miR-3155	CLIP-seq
MIRT1330388	hsa-miR-3155b	CLIP-seq
MIRT1330389	hsa-miR-326	CLIP-seq
MIRT1330390	hsa-miR-330-5p	CLIP-seq
MIRT1330391	hsa-miR-3659	CLIP-seq
MIRT1330392	hsa-miR-3918	CLIP-seq
MIRT1330393	hsa-miR-3921	CLIP-seq
MIRT1330394	hsa-miR-3929	CLIP-seq
MIRT1330395	hsa-miR-4251	CLIP-seq
MIRT1330396	hsa-miR-4255	CLIP-seq
MIRT1330397	hsa-miR-4257	CLIP-seq
MIRT1330398	hsa-miR-4263	CLIP-seq
MIRT1330399	hsa-miR-4271	CLIP-seq
MIRT1330400	hsa-miR-4329	CLIP-seq
MIRT1330401	hsa-miR-4419b	CLIP-seq
MIRT1330402	hsa-miR-4468	CLIP-seq
MIRT1330403	hsa-miR-4475	CLIP-seq
MIRT1330404	hsa-miR-4478	CLIP-seq
MIRT1330405	hsa-miR-449c	CLIP-seq
MIRT1330406	hsa-miR-4521	CLIP-seq
MIRT1330407	hsa-miR-4640-5p	CLIP-seq
MIRT1330408	hsa-miR-4653-5p	CLIP-seq
MIRT1330409	hsa-miR-4685-5p	CLIP-seq
MIRT1330410	hsa-miR-4720-5p	CLIP-seq
MIRT1330411	hsa-miR-4725-3p	CLIP-seq
MIRT1330412	hsa-miR-4726-5p	CLIP-seq
MIRT1330413	hsa-miR-4799-3p	CLIP-seq
MIRT1330414	hsa-miR-484	CLIP-seq
MIRT1330415	hsa-miR-532-3p	CLIP-seq
MIRT1330416	hsa-miR-759	CLIP-seq
MIRT1330417	hsa-miR-760	CLIP-seq
MIRT2322154	hsa-miR-1200	CLIP-seq
MIRT2322155	hsa-miR-1225-3p	CLIP-seq
MIRT2322156	hsa-miR-1233	CLIP-seq
MIRT2322157	hsa-miR-124	CLIP-seq
MIRT2322158	hsa-miR-125a-5p	CLIP-seq
MIRT2322159	hsa-miR-125b	CLIP-seq
MIRT2322160	hsa-miR-1285	CLIP-seq
MIRT2322161	hsa-miR-129-3p	CLIP-seq
MIRT2322162	hsa-miR-1910	CLIP-seq
MIRT2322163	hsa-miR-205	CLIP-seq
MIRT2322164	hsa-miR-2114	CLIP-seq
MIRT2322165	hsa-miR-2115	CLIP-seq
MIRT2322166	hsa-miR-298	CLIP-seq
MIRT2322167	hsa-miR-31	CLIP-seq
MIRT2322168	hsa-miR-3166	CLIP-seq
MIRT2322169	hsa-miR-3187-5p	CLIP-seq
MIRT2322170	hsa-miR-3688-5p	CLIP-seq
MIRT2322171	hsa-miR-3977	CLIP-seq
MIRT2322172	hsa-miR-4319	CLIP-seq
MIRT2322173	hsa-miR-4324	CLIP-seq
MIRT2322174	hsa-miR-455-3p	CLIP-seq
MIRT2322175	hsa-miR-4708-3p	CLIP-seq
MIRT2322176	hsa-miR-4719	CLIP-seq
MIRT2322177	hsa-miR-4732-3p	CLIP-seq
MIRT2322178	hsa-miR-506	CLIP-seq
MIRT2322179	hsa-miR-513b	CLIP-seq
MIRT2322180	hsa-miR-516a-3p	CLIP-seq
MIRT2322181	hsa-miR-544b	CLIP-seq
MIRT2322182	hsa-miR-548n	CLIP-seq
MIRT2322183	hsa-miR-553	CLIP-seq
MIRT2322184	hsa-miR-576-3p	CLIP-seq
MIRT2322185	hsa-miR-612	CLIP-seq
MIRT2322186	hsa-miR-660	CLIP-seq
MIRT2322187	hsa-miR-670	CLIP-seq
MIRT2322188	hsa-miR-938	CLIP-seq
MIRT2322189	hsa-miR-95	CLIP-seq
MIRT2458970	hsa-miR-1245	CLIP-seq
MIRT2458971	hsa-miR-1262	CLIP-seq
MIRT2458972	hsa-miR-1293	CLIP-seq
MIRT2458973	hsa-miR-3119	CLIP-seq
MIRT2458974	hsa-miR-3140-3p	CLIP-seq
MIRT2458975	hsa-miR-3170	CLIP-seq
MIRT2458976	hsa-miR-4483	CLIP-seq
MIRT2458977	hsa-miR-4701-3p	CLIP-seq
MIRT2458978	hsa-miR-4765	CLIP-seq
MIRT2458971	hsa-miR-1262	CLIP-seq
MIRT2458972	hsa-miR-1293	CLIP-seq
MIRT2458973	hsa-miR-3119	CLIP-seq
MIRT2458974	hsa-miR-3140-3p	CLIP-seq
MIRT2458975	hsa-miR-3170	CLIP-seq
MIRT2458976	hsa-miR-4483	CLIP-seq
MIRT2458977	hsa-miR-4701-3p	CLIP-seq
MIRT2458970	hsa-miR-1245	CLIP-seq
MIRT1330381	hsa-miR-2110	CLIP-seq
MIRT1330386	hsa-miR-3150a-3p	CLIP-seq
MIRT2618520	hsa-miR-4260	CLIP-seq
MIRT1330399	hsa-miR-4271	CLIP-seq
MIRT1330411	hsa-miR-4725-3p	CLIP-seq
MIRT2458978	hsa-miR-4765	CLIP-seq
MIRT2618521	hsa-miR-7	CLIP-seq
MIRT2458970	hsa-miR-1245	CLIP-seq
MIRT1330381	hsa-miR-2110	CLIP-seq
MIRT1330386	hsa-miR-3150a-3p	CLIP-seq
MIRT2618520	hsa-miR-4260	CLIP-seq
MIRT1330399	hsa-miR-4271	CLIP-seq
MIRT1330411	hsa-miR-4725-3p	CLIP-seq
MIRT2458978	hsa-miR-4765	CLIP-seq
MIRT2618521	hsa-miR-7	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MLLT3	Activation	18528488
NR3C1	Unknown	10212217

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001669	Component	Acrosomal vesicle	IEA
GO:0001669	Component	Acrosomal vesicle	ISS
GO:0005272	Function	Sodium channel activity	IDA	24124190, 32729833
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11244092, 11359767, 16423824, 21775436, 22493497, 23665454
GO:0005737	Component	Cytoplasm	IDA	28130590
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
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:0005929	Component	Cilium	IEA
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:0009897	Component	External side of plasma membrane	IEA
GO:0015280	Function	Ligand-gated sodium channel activity	IBA
GO:0015280	Function	Ligand-gated sodium channel activity	IEA
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	IDA	22207244, 28130590
GO:0016324	Component	Apical plasma membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031514	Component	Motile cilium	IDA	22207244
GO:0031514	Component	Motile cilium	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:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	24124190
GO:0042995	Component	Cell projection	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:0050914	Process	Sensory perception of salty taste	NAS	22983350
GO:0050915	Process	Sensory perception of sour taste	NAS	22983350
GO:0055078	Process	Sodium ion homeostasis	IDA	24124190
GO:0060170	Component	Ciliary membrane	IDA	22207244
GO:0070062	Component	Extracellular exosome	IDA	15326289
GO:0070062	Component	Extracellular exosome	IEA
GO:0071468	Process	Cellular response to acidic pH	IDA	16423824
GO:0071468	Process	Cellular response to acidic pH	IEA
GO:0097228	Component	Sperm principal piece	ISS
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: 600228
• HGNC: 10599
• e!Ensembl: ENSG00000111319

Protein

• UniProt ID: P37088
• Protein name: Epithelial sodium channel subunit alpha (Alpha-ENaC) (ENaC subunit alpha) (ENaCA) (Epithelial Na(+) channel subunit alpha) (Alpha-NaCH) (Amiloride-sensitive sodium channel subunit alpha) (Nonvoltage-gated sodium channel 1 subunit alpha) (SCNEA) (Sodium ch
• 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:8023962, PubMed:8278374, PubMed:9792722
• PDB: 2M3O, 6BQN, 6WTH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00858	ASC	62 → 572	Amiloride-sensitive sodium channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the female reproductive tract, from the fimbrial end of the fallopian tube to the endometrium (at protein level) (PubMed:22207244). Expressed in kidney (at protein level). In the respiratory tract, expressed in the bronchi
• Sequence:

  MEGNKLEEQDSSPPQSTPGLMKGNKREEQGLGPEPAAPQQPTAEEEALIEFHRSYRELFE
  FFCNNTTIHGAIRLVCSQHNRMKTAFWAVLWLCTFGMMYWQFGLLFGEYFSYPVSLNINL
  NSDKLVFPAVTICTLNPYRYPEIKEELEELDRITEQTLFDLYKYSSFTTLVAGSRSRRDL
  RGTLPHPLQRLRVPPPPHGARRARSVASSLRDNNPQVDWKDWKIGFQLCNQNKSDCFYQT
  YSSGVDAVREWYRFHYINILSRLPETLPSLEEDTLGNFIFACRFNQVSCNQANYSHFHHP
  MYGNCYTFNDKNNSNLWMSSMPGINNGLSLMLRAEQNDFIPLLSTVTGARVMVHGQDEPA
  FMDDGGFNLRPGVETSISMRKETLDRLGGDYGDCTKNGSDVPVENLYPSKYTQQVCIHSC
  FQESMIKECGCAYIFYPRPQNVEYCDYRKHSSWGYCYYKLQVDFSSDHLGCFTKCRKPCS
  VTSYQLSAGYSRWPSVTSQEWVFQMLSRQNNYTVNNKRNGVAKVNIFFKELNYKTNSESP
  SVTMVTLLSNLGSQWSLWFGSSVLSVVEMAELVFDLLVIMFLMLLRRFRSRYWSPGRGGR
  GAQEVASTLASSPPSHFCPHPMSLSLSQPGPAPSPALTAPPPAYATLGPRPSPGGSAGAS
  SSTCPLGGP

• Sequence length: 669

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 2	Pathogenic; Likely pathogenic	rs756434927, rs61759860, rs372956932, rs142439390, rs1565488675, rs1369791519, rs767638989	RCV005003350 RCV000009852 RCV003883309 RCV005010480 RCV001535836 RCV002497281 RCV002499461	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Idiopathic bronchiectasis	Likely pathogenic	rs1555112332	RCV000614949	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Incidental Discovery	Pathogenic	rs756434927	RCV005428991	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Liddle syndrome 3	Pathogenic; Likely pathogenic	rs756434927, rs372956932, rs142439390, rs1565488675, rs1369791519, rs767638989	RCV005003350 RCV003883309 RCV005010480 RCV001535836 RCV002497281 RCV002499461	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs61759913	RCV002274369	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism	Pathogenic	rs767638989	RCV001328259	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism, type IB1, autosomal recessive	Pathogenic; Likely pathogenic	rs2136865918, rs2497885818, rs765835593, rs756434927, rs1592074026, rs137852635, rs2497930442, rs372956932, rs142439390, rs1565488675, rs1369791519, rs1565478701, rs767638989, rs1948331954	RCV002052208 RCV002282741 RCV000009845 RCV000009847 RCV000009848 RCV000009849 RCV003225646 RCV003883309 RCV003227777 RCV001535836 RCV000988776 RCV000988777 RCV002499461 RCV001280871	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal tubulopathies	Likely pathogenic; Pathogenic	rs61759913	RCV006258781	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SCNN1A-related disorder	Likely pathogenic	rs2497879030	RCV004542624	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOINFLAMMATORY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchiectasis with or without elevated sweat chloride 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRUGADA SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome 1	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYSTIC FIBROSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Conflicting classifications of pathogenicity	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
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ 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
LUNG DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monosomy 7 myelodysplasia and leukemia syndrome 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRE-ECLAMPSIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROTEINURIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	24493373		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	22272576		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	24929677		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18221536, 24297604, 24929677, 26317411	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Bronchitis, Chronic	Gastric Cancer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	25339316	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Brugada Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of lung	Lung carcinoma	BEFREE	29413762		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	CTD_human_DG	15077107, 19462466		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16463024, 19017867, 21917531, 22776878, 25900089, 26265620, 28539224, 29058463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic Fibrosis	LHGDN	17766193		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cystic Fibrosis	Cystic fibrosis	Pubtator	19017867, 21917531, 22776878, 25900089	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes mellitus	Pubtator	35466133	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea 3 Secretory Sodium Congenital	Congenital secretory diarrhea	Pubtator	25517724	Associate	★☆☆☆☆ Found in Text Mining only
Embryonal Neoplasm	Embryonal Neoplasm	CTD_human_DG	16168501		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	12530930, 18703878		★☆☆☆☆ Found in Text Mining only
Fibrocystic Disease of Pancreas	Cystic fibrosis of pancreas	CTD_human_DG	15077107, 19462466		★☆☆☆☆ Found in Text Mining only
Generalized pseudohypoaldosteronism type 1	Pseudohypoaldosteronism	Orphanet			★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	CTD_human_DG	16168501		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21346156		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21346156		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia, Familial	Hypercholesterolemia	BEFREE	17020471		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	30628684		★☆☆☆☆ Found in Text Mining only
Hyperlipoproteinemia Type IIa	Hyperlipoproteinemia	BEFREE	17020471		★☆☆☆☆ Found in Text Mining only
Hyperpotassemia and Hypertension, Familial	Hyperpotassemia And Hypertension	CTD_human_DG	11752024		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	24735600, 25064769, 28710092, 30423324	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	11752024, 12530930, 20064610, 25035152, 25695618, 30423324, 31368174, 31805646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	11752024, 23348737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	16207733		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	35466133	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liddle Syndrome	Liddle Syndrome	BEFREE	12530930, 16207733, 20064610, 31655555		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liddle Syndrome	Liddle Syndrome	CTD_human_DG	23348737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liddle Syndrome	Liddle Syndrome	ORPHANET_DG	28710092		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liddle Syndrome	Liddle syndrome	Pubtator	28710092, 31655555, 34223773	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liddle syndrome	Liddle Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIDDLE SYNDROME 3	Liddle Syndrome	GENOMICS_ENGLAND_DG	10586178		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
LIDDLE SYNDROME 3	Liddle Syndrome	UNIPROT_DG	28710092		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung diseases	Lung Diseases	CTD_human_DG	15077107, 19462466		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	BEFREE	28539224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung diseases	Lung Diseases	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	24929677		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29413762		★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	19619703	Stimulate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	19619703	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19619703		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	22776878	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms, Embryonal and Mixed	Neoplasm	CTD_human_DG	16168501		★☆☆☆☆ Found in Text Mining only
Neoplasms, Germ Cell and Embryonal	Neoplasm	CTD_human_DG	16168501		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21314941		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	21314941	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32977853, 34823420	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34558641	Associate	★☆☆☆☆ Found in Text Mining only
Pelger-Huet Anomaly	Pelger-Huet Anomaly	BEFREE	20064610, 29885352		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36915125	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism	Pseudohypoaldosteronism	CTD_human_DG	11752024		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism	Pseudohypoaldosteronism	LHGDN	12107247, 18634878		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism	Pseudohypoaldosteronism	BEFREE	20064610, 23031435		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism	Pseudohypoparathyroidism	Pubtator	21653223, 23762408, 27900368, 33829730, 34134742, 38288475	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism	Pseudohypoaldosteronism	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism, Type I	Pseudohypoaldosteronism	CTD_human_DG	11752024		★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type I	Pseudohypoaldosteronism	BEFREE	12530930, 16207733, 21653223, 23416952, 23762408, 23813355, 28567665, 31018202		★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Pseudohypoaldosteronism	CTD_human_DG	11752024		★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Pseudohypoaldosteronism	GENOMICS_ENGLAND_DG	10586178		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Pseudohypoaldosteronism	UNIPROT_DG	10586178, 15853823, 18634878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Pseudohypoaldosteronism	CTD_human_DG	11752024		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Pseudohypoaldosteronism	ORPHANET_DG	19571553, 23416952, 23762408		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Pseudohypoaldosteronism	BEFREE	23416952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohypoaldosteronism, Type II	Pseudohypoaldosteronism	CTD_human_DG	11752024		★☆☆☆☆ 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	15077107, 19462466		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	16028639, 26611714		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	21917531	Associate	★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29413762		★☆☆☆☆ Found in Text Mining only