SCNN1G (sodium channel epithelial 1 subunit gamma)

Gene

• Entrez ID: 6340
• Gene name: Sodium channel epithelial 1 subunit gamma
• Gene symbol: SCNN1G
• Synonyms (NCBI Gene): BESC3, ENaCg, ENaCgamma, LDLS2, PHA1, PHA1B3, SCNEG
• Disease Acronyms (UniProt): BESC3, PHA1B3
• 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 gamma subunit,

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs5736	G>A	Benign-likely-benign, benign, likely-benign, pathogenic	Missense variant, coding sequence variant
rs5738	G>A	Benign-likely-benign, benign, likely-benign, pathogenic	Missense variant, coding sequence variant
rs72647541	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs137853342	G>A	Pathogenic	Coding sequence variant, stop gained
rs886041786	->GCCG	Pathogenic	Frameshift variant, coding sequence variant
rs1567262640	G>A	Pathogenic	Splice acceptor variant
rs1567270184	AGCTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1596760831	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596777509	GCAGCACCCCA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596779402	G>A	Pathogenic	Splice acceptor variant
rs1596779433	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596779485	G>A	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT648317	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT648316	hsa-miR-5702	HITS-CLIP	23824327
MIRT648315	hsa-miR-7154-5p	HITS-CLIP	23824327
MIRT648314	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT648313	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT648312	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT648311	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT648310	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT530818	hsa-miR-186-3p	PAR-CLIP	22012620
MIRT530816	hsa-miR-4286	PAR-CLIP	22012620
MIRT530815	hsa-miR-6887-3p	PAR-CLIP	22012620
MIRT530814	hsa-miR-7106-3p	PAR-CLIP	22012620
MIRT648317	hsa-miR-4778-3p	HITS-CLIP	23824327
MIRT648316	hsa-miR-5702	HITS-CLIP	23824327
MIRT648315	hsa-miR-7154-5p	HITS-CLIP	23824327
MIRT648314	hsa-miR-433-3p	HITS-CLIP	23824327
MIRT648313	hsa-miR-937-5p	HITS-CLIP	23824327
MIRT648312	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT648311	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT648310	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT530818	hsa-miR-186-3p	PAR-CLIP	22012620
MIRT530816	hsa-miR-4286	PAR-CLIP	22012620
MIRT530815	hsa-miR-6887-3p	PAR-CLIP	22012620
MIRT530814	hsa-miR-7106-3p	PAR-CLIP	22012620
MIRT1330424	hsa-miR-10a	CLIP-seq
MIRT1330425	hsa-miR-10b	CLIP-seq
MIRT1330426	hsa-miR-1285	CLIP-seq
MIRT1330427	hsa-miR-1304	CLIP-seq
MIRT1330428	hsa-miR-2116	CLIP-seq
MIRT1330429	hsa-miR-3119	CLIP-seq
MIRT1330430	hsa-miR-3122	CLIP-seq
MIRT1330431	hsa-miR-3174	CLIP-seq
MIRT1330432	hsa-miR-3187-5p	CLIP-seq
MIRT1330433	hsa-miR-3189-5p	CLIP-seq
MIRT1330434	hsa-miR-3591-3p	CLIP-seq
MIRT1330435	hsa-miR-3616-5p	CLIP-seq
MIRT1330436	hsa-miR-3620	CLIP-seq
MIRT1330437	hsa-miR-3647-5p	CLIP-seq
MIRT1330438	hsa-miR-3689a-3p	CLIP-seq
MIRT1330439	hsa-miR-3689c	CLIP-seq
MIRT1330440	hsa-miR-3913-5p	CLIP-seq
MIRT1330441	hsa-miR-3929	CLIP-seq
MIRT1330442	hsa-miR-3940-5p	CLIP-seq
MIRT1330443	hsa-miR-4325	CLIP-seq
MIRT1330444	hsa-miR-4419b	CLIP-seq
MIRT1330445	hsa-miR-4433	CLIP-seq
MIRT1330446	hsa-miR-4478	CLIP-seq
MIRT1330447	hsa-miR-4507	CLIP-seq
MIRT1330448	hsa-miR-4677-5p	CLIP-seq
MIRT1330449	hsa-miR-4728-5p	CLIP-seq
MIRT1330450	hsa-miR-4747-5p	CLIP-seq
MIRT1330451	hsa-miR-4773	CLIP-seq
MIRT1330452	hsa-miR-4793-3p	CLIP-seq
MIRT1330453	hsa-miR-4795-5p	CLIP-seq
MIRT1330454	hsa-miR-485-5p	CLIP-seq
MIRT1330455	hsa-miR-550a	CLIP-seq
MIRT1330456	hsa-miR-573	CLIP-seq
MIRT1330457	hsa-miR-579	CLIP-seq
MIRT1330458	hsa-miR-612	CLIP-seq
MIRT1330459	hsa-miR-635	CLIP-seq
MIRT1330460	hsa-miR-661	CLIP-seq
MIRT1330461	hsa-miR-665	CLIP-seq
MIRT1330462	hsa-miR-921	CLIP-seq
MIRT1330426	hsa-miR-1285	CLIP-seq
MIRT1330430	hsa-miR-3122	CLIP-seq
MIRT2097850	hsa-miR-3136-3p	CLIP-seq
MIRT1330431	hsa-miR-3174	CLIP-seq
MIRT1330432	hsa-miR-3187-5p	CLIP-seq
MIRT1330435	hsa-miR-3616-5p	CLIP-seq
MIRT1330437	hsa-miR-3647-5p	CLIP-seq
MIRT1330438	hsa-miR-3689a-3p	CLIP-seq
MIRT1330439	hsa-miR-3689c	CLIP-seq
MIRT1330440	hsa-miR-3913-5p	CLIP-seq
MIRT1330441	hsa-miR-3929	CLIP-seq
MIRT1330443	hsa-miR-4325	CLIP-seq
MIRT2097851	hsa-miR-433	CLIP-seq
MIRT1330444	hsa-miR-4419b	CLIP-seq
MIRT1330446	hsa-miR-4478	CLIP-seq
MIRT1330449	hsa-miR-4728-5p	CLIP-seq
MIRT1330450	hsa-miR-4747-5p	CLIP-seq
MIRT1330451	hsa-miR-4773	CLIP-seq
MIRT1330452	hsa-miR-4793-3p	CLIP-seq
MIRT1330453	hsa-miR-4795-5p	CLIP-seq
MIRT1330454	hsa-miR-485-5p	CLIP-seq
MIRT1330455	hsa-miR-550a	CLIP-seq
MIRT1330456	hsa-miR-573	CLIP-seq
MIRT1330458	hsa-miR-612	CLIP-seq
MIRT1330460	hsa-miR-661	CLIP-seq
MIRT1330462	hsa-miR-921	CLIP-seq
MIRT1330430	hsa-miR-3122	CLIP-seq
MIRT1330435	hsa-miR-3616-5p	CLIP-seq
MIRT1330436	hsa-miR-3620	CLIP-seq
MIRT1330437	hsa-miR-3647-5p	CLIP-seq
MIRT1330438	hsa-miR-3689a-3p	CLIP-seq
MIRT1330439	hsa-miR-3689c	CLIP-seq
MIRT1330440	hsa-miR-3913-5p	CLIP-seq
MIRT1330441	hsa-miR-3929	CLIP-seq
MIRT1330443	hsa-miR-4325	CLIP-seq
MIRT1330444	hsa-miR-4419b	CLIP-seq
MIRT1330446	hsa-miR-4478	CLIP-seq
MIRT1330449	hsa-miR-4728-5p	CLIP-seq
MIRT1330450	hsa-miR-4747-5p	CLIP-seq
MIRT1330452	hsa-miR-4793-3p	CLIP-seq
MIRT1330453	hsa-miR-4795-5p	CLIP-seq
MIRT1330454	hsa-miR-485-5p	CLIP-seq
MIRT1330455	hsa-miR-550a	CLIP-seq
MIRT2322190	hsa-miR-564	CLIP-seq
MIRT1330456	hsa-miR-573	CLIP-seq
MIRT1330459	hsa-miR-635	CLIP-seq
MIRT1330426	hsa-miR-1285	CLIP-seq
MIRT1330430	hsa-miR-3122	CLIP-seq
MIRT1330432	hsa-miR-3187-5p	CLIP-seq
MIRT1330435	hsa-miR-3616-5p	CLIP-seq
MIRT1330437	hsa-miR-3647-5p	CLIP-seq
MIRT2394095	hsa-miR-3652	CLIP-seq
MIRT1330438	hsa-miR-3689a-3p	CLIP-seq
MIRT1330439	hsa-miR-3689c	CLIP-seq
MIRT1330440	hsa-miR-3913-5p	CLIP-seq
MIRT1330441	hsa-miR-3929	CLIP-seq
MIRT1330443	hsa-miR-4325	CLIP-seq
MIRT1330444	hsa-miR-4419b	CLIP-seq
MIRT2394096	hsa-miR-4430	CLIP-seq
MIRT1330446	hsa-miR-4478	CLIP-seq
MIRT2394097	hsa-miR-4505	CLIP-seq
MIRT1330449	hsa-miR-4728-5p	CLIP-seq
MIRT1330452	hsa-miR-4793-3p	CLIP-seq
MIRT1330453	hsa-miR-4795-5p	CLIP-seq
MIRT1330454	hsa-miR-485-5p	CLIP-seq
MIRT1330455	hsa-miR-550a	CLIP-seq
MIRT2322190	hsa-miR-564	CLIP-seq
MIRT1330456	hsa-miR-573	CLIP-seq
MIRT1330458	hsa-miR-612	CLIP-seq
MIRT1330459	hsa-miR-635	CLIP-seq
MIRT2394098	hsa-miR-647	CLIP-seq
MIRT1330426	hsa-miR-1285	CLIP-seq
MIRT1330430	hsa-miR-3122	CLIP-seq
MIRT1330431	hsa-miR-3174	CLIP-seq
MIRT1330432	hsa-miR-3187-5p	CLIP-seq
MIRT1330438	hsa-miR-3689a-3p	CLIP-seq
MIRT1330439	hsa-miR-3689c	CLIP-seq
MIRT1330440	hsa-miR-3913-5p	CLIP-seq
MIRT1330441	hsa-miR-3929	CLIP-seq
MIRT1330443	hsa-miR-4325	CLIP-seq
MIRT1330444	hsa-miR-4419b	CLIP-seq
MIRT1330446	hsa-miR-4478	CLIP-seq
MIRT1330449	hsa-miR-4728-5p	CLIP-seq
MIRT1330451	hsa-miR-4773	CLIP-seq
MIRT1330452	hsa-miR-4793-3p	CLIP-seq
MIRT1330454	hsa-miR-485-5p	CLIP-seq
MIRT1330455	hsa-miR-550a	CLIP-seq
MIRT1330458	hsa-miR-612	CLIP-seq
MIRT1330460	hsa-miR-661	CLIP-seq
MIRT1330462	hsa-miR-921	CLIP-seq
MIRT2690248	hsa-miR-1283	CLIP-seq
MIRT1330430	hsa-miR-3122	CLIP-seq
MIRT1330431	hsa-miR-3174	CLIP-seq
MIRT1330438	hsa-miR-3689a-3p	CLIP-seq
MIRT1330439	hsa-miR-3689c	CLIP-seq
MIRT1330440	hsa-miR-3913-5p	CLIP-seq
MIRT1330441	hsa-miR-3929	CLIP-seq
MIRT1330443	hsa-miR-4325	CLIP-seq
MIRT1330444	hsa-miR-4419b	CLIP-seq
MIRT1330446	hsa-miR-4478	CLIP-seq
MIRT1330449	hsa-miR-4728-5p	CLIP-seq
MIRT1330452	hsa-miR-4793-3p	CLIP-seq
MIRT1330454	hsa-miR-485-5p	CLIP-seq
MIRT1330455	hsa-miR-550a	CLIP-seq
MIRT1330462	hsa-miR-921	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005216	Function	Ion channel activity	IMP	22864553
GO:0005272	Function	Sodium channel activity	TAS	8521520
GO:0005515	Function	Protein binding	IPI	11244092, 16423824, 21775436, 22493497
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005887	Component	Integral component of plasma membrane	IDA	24124190
GO:0006814	Process	Sodium ion transport	TAS	8521520
GO:0007588	Process	Excretion	TAS	8640238
GO:0009897	Component	External side of plasma membrane	IEA
GO:0015280	Function	Ligand-gated sodium channel activity	IDA	24124190
GO:0016324	Component	Apical plasma membrane	IEA
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0034706	Component	Sodium channel complex	IBA	21873635
GO:0034706	Component	Sodium channel complex	IDA	24124190
GO:0035725	Process	Sodium ion transmembrane transport	IBA	21873635
GO:0035725	Process	Sodium ion transmembrane transport	IDA	24124190
GO:0050699	Function	WW domain binding	IPI	10642508
GO:0050891	Process	Multicellular organismal water homeostasis	IDA	24124190
GO:0050909	Process	Sensory perception of taste	IEA
GO:0055078	Process	Sodium ion homeostasis	IDA	24124190
GO:0070062	Component	Extracellular exosome	IDA	15326289
GO:0098797	Component	Plasma membrane protein complex	IEA
GO:1904045	Process	Cellular response to aldosterone	IEA

Other IDs

• MIM: 600761
• HGNC: 10602
• e!Ensembl: ENSG00000166828

Protein

• UniProt ID: P51170
• Protein name: Epithelial sodium channel subunit gamma (ENaC subunit gamma) (ENaCG) (Epithelial Na(+) channel subunit gamma) (Gamma-ENaC) (Amiloride-sensitive sodium channel subunit gamma) (Gamma-NaCH) (Nonvoltage-gated sodium channel 1 subunit gamma) (SCNEG) (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:7550319, PubMed:7762608, PubMed:9792722
• PDB: 6BQN, 6WTH, 9BLR, 9BTG, 9BTU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00858	ASC	32 → 552	Amiloride-sensitive sodium channel	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in kidney (at protein level). {ECO:0000269|PubMed:22207244}.
• Sequence:

  MAPGEKIKAKIKKNLPVTGPQAPTIKELMRWYCLNTNTHGCRRIVVSRGRLRRLLWIGFT
  LTAVALILWQCALLVFSFYTVSVSIKVHFRKLDFPAVTICNINPYKYSTVRHLLADLEQE
  TREALKSLYGFPESRKRREAESWNSVSEGKQPRFSHRIPLLIFDQDEKGKARDFFTGRKR
  KVGGSIIHKASNVMHIESKQVVGFQLCSNDTSDCATYTFSSGINAIQEWYKLHYMNIMAQ
  VPLEKKINMSYSAEELLVTCFFDGVSCDARNFTLFHHPMHGNCYTFNNRENETILSTSMG
  GSEYGLQVILYINEEEYNPFLVSSTGAKVIIHRQDEYPFVEDVGTEIETAMVTSIGMHLT
  ESFKLSEPYSQCTEDGSDVPIRNIYNAAYSLQICLHSCFQTKMVEKCGCAQYSQPLPPAA
  NYCNYQQHPNWMYCYYQLHRAFVQEELGCQSVCKEACSFKEWTLTTSLAQWPSVVSEKWL
  LPVLTWDQGRQVNKKLNKTDLAKLLIFYKDLNQRSIMESPANSIEMLLSNFGGQLGLWMS
  CSVVCVIEIIEVFFIDFFSIIARRQWQKAKEWWAWKQAPPCPEAPRSPQGQDNPALDIDD
  DLPTFNSALHLPPALGTQVPGTPPPKYNTLRLERAFSNQLTDTQMLDEL

• Sequence length: 649

Pathways

KEGG:

Taste transduction
Aldosterone-regulated sodium reabsorption

Reactome:

Stimuli-sensing channels

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Bronchiectasis	Bronchiectasis	rs121908758, rs121908811, rs76649725, rs267606722, rs121909008, rs387906360, rs387906361, rs80034486, rs74767530, rs121908776, rs121909012, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs80055610, rs75528968, rs121908748, rs77932196, rs121909026, rs121908751, rs121908750, rs746418935, rs79282516, rs77409459, rs121909031, rs76554633, rs75115087, rs79633941, rs387906375, rs75389940, rs121909043, rs387906379, rs121908784, rs121909047, rs137852709, rs1596894031, rs137852710, rs61759860, rs121908805, rs193922501, rs193922503, rs193922504, rs1554389296, rs121908812, rs74467662, rs193922510, rs193922514, rs121908797, rs193922515, rs76151804, rs78984783, rs77035409, rs193922532, rs121908767, rs77188391, rs121908789, rs121908779, rs36210737, rs121908763, rs121908794, rs121908796, rs121908772, rs79031340, rs397508137, rs397508139, rs121908774, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508173, rs397508192, rs397508196, rs397508200, rs397508205, rs397508208, rs397508211, rs397508222, rs397508225, rs397508231, rs397508243, rs397508251, rs397508261, rs397508272, rs397508273, rs397508276, rs397508295, rs397508296, rs397508298, rs397508300, rs77284892, rs397508310, rs201978662, rs201124247, rs121908780, rs397508331, rs397508333, rs397508339, rs397508341, rs121908760, rs397508350, rs397508353, rs121908810, rs397508360, rs374946172, rs145449046, rs397508377, rs397508379, rs397508380, rs397508386, rs397508387, rs397508393, rs397508399, rs397508400, rs397508412, rs397508413, rs121909034, rs149790377, rs121908792, rs397508426, rs397508431, rs397508441, rs397508451, rs397508461, rs397508479, rs397508482, rs397508496, rs397508498, rs397508506, rs397508510, rs142394380, rs121909036, rs139304906, rs121908798, rs397508532, rs397508535, rs146521846, rs139729994, rs397508570, rs397508572, rs77834169, rs78655421, rs121908765, rs397508595, rs397508596, rs397508600, rs397508604, rs397508609, rs397508616, rs397508620, rs397508624, rs121908808, rs397508635, rs397508636, rs397508637, rs397508658, rs397508673, rs397508680, rs397508686, rs76371115, rs397508702, rs397508706, rs397508712, rs397508715, rs397508721, rs397508732, rs397508734, rs397508740, rs121908771, rs397508761, rs78440224, rs121908793, rs397508767, rs121908803, rs397508777, rs397508784, rs397508791, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508824, rs786204693, rs755416052, rs397508263, rs1057516619, rs397508176, rs1057516415, rs1057516970, rs754392413, rs1057516457, rs397508709, rs1060503164, rs775663783, rs397508294, rs1554380497, rs397508163, rs121908785, rs1235397597, rs397508405, rs1554392800, rs375661578, rs397508693, rs766063304, rs141482808, rs1290078234, rs756219310, rs1554390958, rs1555112332, rs750559671, rs533959068, rs1554389062, rs1554389486, rs1330431481, rs193922730, rs779177972, rs1562928997, rs1562908997, rs1562876459, rs1584785196, rs1584786454, rs1299250440, rs1584837090, rs1584764596, rs1584812425
Colorectal cancer	Colorectal Carcinoma	rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800, rs63750198, rs63751109, rs863223312, rs63750710, rs63751615, rs63750206, rs63750781, rs63750899, rs63750691, rs63750217, rs121912965, rs63749939, rs63751194, rs63750693, rs63750540, rs63751221, rs193922370, rs80359596, rs397514632, rs483352909, rs200495564, rs397514684, rs397516436, rs398122386, rs79512956, rs74953290, rs587779001, rs63750677, rs63749837, rs267607816, rs63751715, rs267607819, rs267607815, rs267607822, rs63749906, rs587778883, rs63750472, rs63751012, rs63750715, rs63750580, rs267607706, rs267607709, rs267607710, rs587778894, rs63750749, rs63750483, rs63751015, rs63751153, rs63751094, rs63751118, rs63750316, rs63749981, rs587778906, rs267607821, rs587778908, rs63750020, rs587778909, rs63750713, rs267607825, rs63751592, rs281864936, rs587778913, rs587778914, rs63749795, rs63750855, rs63749916, rs63749923, rs63751472, rs63751689, rs267607832, rs267607837, rs267607836, rs587778923, rs63750028, rs587778928, rs587778929, rs587778930, rs63751277, rs587778933, rs267607842, rs267607843, rs63750192, rs587778934, rs63750193, rs587778937, rs587778938, rs267607845, rs63751244, rs63751393, rs63751460, rs267607849, rs267607853, rs267607856, rs267607850, rs63751657, rs267607854, rs267607852, rs587778942, rs63750309, rs63750587, rs63749863, rs63751486, rs63750016, rs63749868, rs63750375, rs63750035, rs63750604, rs63750386, rs63750150, rs63750486, rs63751428, rs267607866, rs63749986, rs63751594, rs63750152, rs63750850, rs267607867, rs267607868, rs63751632, rs267607871, rs63751892, rs587778956, rs63750469, rs587778958, rs63749792, rs267607875, rs63751255, rs281864938, rs63751202, rs63750726, rs63751310, rs63749900, rs587778964, rs267607879, rs267607878, rs587778966, rs267607883, rs267607887, rs63750061, rs63750663, rs587778968, rs587778971, rs63750809, rs63749867, rs63750864, rs587778972, rs63751275, rs267607718, rs267607722, rs63750769, rs267607717, rs587778973, rs267607716, rs267607720, rs63749995, rs63750859, rs587778975, rs63750114, rs587778976, rs63750603, rs267607889, rs267607723, rs63750561, rs63750499, rs63751642, rs63751022, rs587778981, rs63750971, rs267607898, rs267607906, rs267607903, rs587778989, rs587778992, rs267607894, rs267607901, rs267607892, rs63750437, rs587778997, rs587778998, rs63750005, rs63750641, rs63751421, rs11541859, rs63750266, rs111052004, rs267607726, rs267607727, rs63750453, rs267607734, rs267607735, rs63751665, rs267607736, rs267607732, rs63749816, rs63750539, rs267607739, rs587779006, rs587779008, rs267607745, rs267607742, rs63751595, rs267607743, rs587779010, rs587779012, rs63750057, rs63749818, rs63751124, rs587779014, rs587779015, rs63749820, rs63751302, rs267607750, rs267607751, rs267607749, rs63750891, rs63749959, rs63749804, rs267607765, rs267607760, rs587779021, rs267607759, rs63750515, rs587779023, rs63751021, rs63751480, rs267607772, rs267607773, rs587779024, rs63751653, rs587779027, rs267607767, rs587779029, rs63750706, rs63750385, rs267607774, rs267607778, rs267607780, rs587779034, rs63751711, rs267607784, rs587779035, rs63750823, rs63750822, rs267607787, rs63750303, rs63749839, rs63749827, rs267607789, rs267607790, rs267607791, rs267607786, rs267607771, rs267607795, rs267607794, rs267607788, rs267607799, rs267607801, rs587779045, rs63750034, rs587779047, rs63750216, rs63751707, rs63751598, rs267607803, rs267607777, rs63750144, rs267607805, rs63750547, rs63750489, rs63750993, rs587779054, rs63751259, rs63749926, rs63750796, rs587779058, rs63750745, rs63750582, rs180177084, rs587779866, rs200389141, rs587779950, rs587780104, rs587780183, rs587778536, rs587780683, rs587781554, rs267607712, rs587777627, rs587783057, rs730881734, rs41542214, rs730881273, rs786203456, rs786201990, rs786202767, rs748005072, rs786204317, rs786204318, rs797045117, rs63750549, rs863225383, rs863225384, rs863225373, rs863225376, rs863225377, rs863225378, rs863225379, rs863225380, rs863225381, rs63750059, rs267607823, rs864622457, rs869312767, rs869312753, rs876661059, rs876658915, rs876658923, rs876660860, rs876660822, rs876660458, rs876660214, rs876658657, rs876658247, rs876659226, rs876658821, rs876660589, rs876659068, rs876659681, rs876659608, rs878853794, rs878853778, rs878853780, rs878853785, rs886039423, rs886039424, rs1057517543, rs1057517541, rs756843954, rs1057517617, rs1057517558, rs1057519256, rs1060500689, rs764085979, rs1060500707, rs1060500699, rs1060500706, rs1060500703, rs1064795341, rs1064793607, rs1064794348, rs1064795441, rs1064794373, rs1064793172, rs1064794122, rs1064795515, rs1064794331, rs63750978, rs1114167435, rs1553641362, rs63751448, rs1553648029, rs1553648058, rs587778903, rs1553653237, rs1553664353, rs267607744, rs1553647995, rs1553648047, rs1553653084, rs1553663750, rs1553664436, rs1553488015, rs1553637293, rs63750310, rs63750443, rs63751596, rs1553646681, rs550890395, rs1064796057, rs1553642079, rs1553648023, rs587782087, rs746536721, rs1553653037, rs1248251121, rs1553646602, rs1434898623, rs1553665683, rs1553648068, rs1553645331, rs1553644123, rs1553658246, rs1553651299, rs1553648149, rs1553663159, rs1302248679, rs1553664119, rs1553658009, rs1553665977, rs1416171624, rs1553663834, rs1553664617, rs1553664702, rs1553647969, rs1553648040, rs1437454428, rs1553641273, rs63751101, rs1553646764, rs1553648225, rs1554082118, rs1553648201, rs1553638868, rs1553665866, rs376736188, rs1553642707, rs1553645226, rs1553652883, rs63751435, rs1553653115, rs1553653195, rs63750300, rs1553662622, rs1553658104, rs1553648220, rs1559544064, rs63750584, rs267608083, rs1559551570, rs1559575107, rs1559553501, rs1565986506, rs1559524405, rs1559553492, rs1559554339, rs1559588540, rs1559558071, rs761329565, rs1559521039, rs1559574795, rs1567221417, rs1559578422, rs1481129490, rs1570714352, rs779783209, rs1575376830, rs1575469070, rs1575537843, rs1575620443, rs1575621506, rs587779022, rs1575414904, rs1575449093, rs1575469505, rs1575536254, rs1575537933, rs1575632112, rs1575639851, rs1575441094, rs1575449402, rs267607831, rs2081922847, rs2083403132, rs2085415927, rs2085469647, rs2043913790, rs147542208
Cystic fibrosis	Cystic Fibrosis	rs113993960, rs121908745, rs77101217, rs78655421, rs77932196, rs74551128, rs76713772, rs80055610, rs121909006, rs113993959, rs121908755, rs121908758, rs75527207, rs74597325, rs75549581, rs121908811, rs76649725, rs267606722, rs121909008, rs77010898, rs121909009, rs121909010, rs387906360, rs387906361, rs80034486, rs74767530, rs387906362, rs121909011, rs121908776, rs121909012, rs75961395, rs79850223, rs121908804, rs387906363, rs387906364, rs121908788, rs77646904, rs121908754, rs121909015, rs121909016, rs387906365, rs121909017, rs121909018, rs121909019, rs143570767, rs387906366, rs78194216, rs75528968, rs75039782, rs77902683, rs121908748, rs387906367, rs121909023, rs141158996, rs121908766, rs387906369, rs387906370, rs121909025, rs121909026, rs121908751, rs121908750, rs121909028, rs746418935, rs79282516, rs387906371, rs77409459, rs78802634, rs121909031, rs76554633, rs121909033, rs75115087, rs79633941, rs121908773, rs121909036, rs121909037, rs79635528, rs121908761, rs121908764, rs387906375, rs75389940, rs121909042, rs121908775, rs387906376, rs387906377, rs387906378, rs121909043, rs1797973431, rs387906379, rs121908784, rs121908769, rs121909045, rs387906380, rs267606723, rs121909047, rs75096551, rs193922498, rs193922500, rs121908805, rs139573311, rs193922501, rs193922503, rs193922504, rs193922505, rs1554389296, rs121908812, rs121908799, rs121908746, rs74467662, rs193922509, rs193922510, rs386134230, rs193922514, rs121908797, rs193922515, rs144055758, rs76151804, rs78984783, rs77035409, rs193922519, rs193922520, rs193922521, rs193922523, rs193922524, rs193922526, rs193922528, rs193922532, rs121908767, rs78756941, rs77188391, rs80224560, rs121908789, rs77284892, rs121908779, rs79660178, rs36210737, rs121908749, rs121908763, rs121908792, rs121908794, rs121908801, rs121908796, rs121908772, rs121908768, rs79031340, rs78909279, rs397508136, rs397508137, rs397508138, rs397508139, rs397508140, rs397508141, rs397508144, rs121908774, rs397508146, rs397508148, rs397508150, rs397508152, rs397508158, rs397508165, rs397508168, rs397508169, rs397508171, rs397508173, rs397508174, rs397508175, rs397508176, rs397508177, rs397508178, rs397508179, rs397508181, rs397508182, rs397508183, rs397508184, rs397508186, rs1800074, rs397508190, rs397508192, rs397508195, rs397508196, rs151020603, rs397508197, rs397508198, rs397508200, rs397508201, rs397508203, rs397508204, rs397508205, rs397508207, rs397508208, rs397508209, rs397508211, rs397508214, rs397508216, rs397508217, rs397508222, rs397508223, rs397508225, rs397508227, rs397508230, rs397508231, rs397508233, rs397508243, rs121908800, rs397508244, rs397508246, rs397508247, rs397508249, rs397508250, rs397508251, rs397508252, rs397508253, rs397508257, rs397508258, rs397508261, rs397508263, rs397508266, rs397508267, rs397508269, rs397508272, rs397508273, rs397508274, rs397508276, rs397508277, rs397508278, rs397508279, rs397508283, rs397508285, rs397508289, rs397508290, rs397508295, rs397508296, rs397508298, rs397508300, rs397508302, rs397508303, rs397508306, rs397508307, rs397508308, rs121908777, rs397508310, rs201978662, rs201124247, rs139468767, rs397508316, rs397508320, rs397508323, rs121908780, rs121908809, rs397508324, rs397508325, rs397508327, rs397508328, rs397508331, rs397508333, rs397508334, rs397508336, rs397508339, rs397508341, rs121908760, rs397508343, rs397508344, rs397508345, rs397508346, rs397508348, rs397508350, rs397508351, rs397508353, rs397508354, rs397508356, rs121908810, rs397508364, rs397508365, rs397508360, rs397508368, rs374946172, rs397508371, rs145449046, rs397508372, rs397508376, rs397508377, rs397508378, rs397508379, rs397508380, rs397508382, rs397508387, rs397508388, rs397508389, rs397508391, rs397508393, rs397508394, rs397508399, rs397508400, rs397508401, rs397508412, rs397508413, rs397508416, rs121908791, rs121909034, rs149790377, rs397508426, rs397508431, rs397508433, rs397508435, rs397508440, rs397508441, rs397508445, rs397508447, rs397508451, rs397508453, rs397508458, rs397508461, rs397508462, rs397508464, rs397508466, rs397508467, rs397508470, rs1562914028, rs397508472, rs397508475, rs397508476, rs397508477, rs397508479, rs397508480, rs397508482, rs397508484, rs121908781, rs397508486, rs397508490, rs1554392027, rs397508493, rs397508496, rs397508498, rs397508499, rs397508500, rs397508503, rs397508505, rs397508506, rs397508509, rs397508510, rs142394380, rs397508514, rs397508516, rs78769542, rs397508517, rs397508518, rs139304906, rs121908798, rs397508524, rs397508525, rs397508528, rs1554392248, rs397508529, rs397508531, rs397508532, rs397508533, rs397508534, rs397508535, rs397508536, rs397508538, rs146521846, rs397508547, rs397508549, rs397508552, rs397508555, rs397508557, rs397508558, rs397508559, rs397508560, rs397508561, rs139729994, rs397508570, rs397508571, rs397508572, rs397508573, rs397508575, rs77834169, rs397508578, rs397508579, rs397508580, rs397508581, rs397508582, rs397508587, rs121908765, rs397508588, rs397508589, rs35396083, rs397508595, rs144781064, rs1554395323, rs397508596, rs397508598, rs397508599, rs397508600, rs397508602, rs397508604, rs397508609, rs397508612, rs397508613, rs397508614, rs397508615, rs397508616, rs397508620, rs146795445, rs397508624, rs387906373, rs397508630, rs121908808, rs397508633, rs397508635, rs397508636, rs397508637, rs397508643, rs397508645, rs397508650, rs397508653, rs397508654, rs397508657, rs397508658, rs397508662, rs397508667, rs397508668, rs397508671, rs397508672, rs397508673, rs397508675, rs397508678, rs397508680, rs397508684, rs397508685, rs397508686, rs397508689, rs76371115, rs397508695, rs397508696, rs397508701, rs397508702, rs372227120, rs397508706, rs397508707, rs397508710, rs397508712, rs397508714, rs397508715, rs397508716, rs374705585, rs121908770, rs397508718, rs397508720, rs397508721, rs397508729, rs397508731, rs397508732, rs397508734, rs397508735, rs397508736, rs397508737, rs397508740, rs397508746, rs121908771, rs397508750, rs1562882675, rs397508758, rs397508759, rs397508760, rs397508761, rs78440224, rs397508762, rs121908793, rs121908802, rs397508764, rs397508767, rs397508768, rs121908803, rs397508771, rs397508775, rs397508777, rs397508778, rs397508781, rs397508782, rs397508783, rs397508784, rs397508791, rs397508794, rs397508796, rs397508799, rs397508805, rs397508808, rs397508809, rs397508815, rs397508816, rs397508820, rs397508824, rs397515498, rs672601317, rs672601316, rs672601315, rs672601314, rs786204693, rs397508189, rs755416052, rs786205658, rs797045160, rs1805177, rs797045161, rs387906359, rs797045159, rs3034796, rs886042527, rs1057516232, rs1057517342, rs1057516646, rs1057516619, rs1057516387, rs1057516236, rs1057517276, rs1057517068, rs1057517032, rs1057516415, rs780546355, rs1057516970, rs1057516609, rs121908782, rs1057517404, rs754392413, rs1057516457, rs397508683, rs1800135, rs397508709, rs1060503164, rs775663783, rs1554391033, rs1554391489, rs763843966, rs797045156, rs397508294, rs1554379887, rs1554380497, rs397508163, rs121908785, rs1235397597, rs121909005, rs797045162, rs397508355, rs397508405, rs768963919, rs1554392800, rs1554392801, rs1554396393, rs375661578, rs397508669, rs1554397527, rs397508693, rs1554381605, rs766063304, rs773739166, rs1554379899, rs141482808, rs1554380789, rs1290078234, rs1554396384, rs756219310, rs1554390958, rs1554389836, rs1554398510, rs1801178, rs1554390859, rs1554379846, rs1554380311, rs1199914684, rs367934560, rs1554389241, rs762844777, rs750559671, rs1554381596, rs1554388867, rs1554389346, rs397508386, rs1554380465, rs200955612, rs1554397593, rs1554397769, rs1554380828, rs533959068, rs1554384343, rs1351058559, rs1554389062, rs1554390864, rs1554392282, rs1554392798, rs1554397750, rs984281283, rs1554389486, rs1554391454, rs1554391491, rs1554397497, rs758921701, rs1562895066, rs1562928927, rs1330431481, rs1317756653, rs1562876396, rs1562882755, rs397508256, rs1562884046, rs397508522, rs1562889382, rs1562890223, rs193922730, rs1562891084, rs1204521684, rs1562892359, rs1562892387, rs1562892823, rs1562892895, rs1562898465, rs1562898471, rs1562898496, rs1562898510, rs1562907260, rs1562907873, rs397508381, rs1562911661, rs1562911739, rs1562914082, rs1562914107, rs1562914200, rs1562914641, rs779177972, rs1562914838, rs1470125842, rs397508544, rs1562919371, rs1562923164, rs397508601, rs193922732, rs397508661, rs1562928997, rs1562929633, rs1562929636, rs1562895104, rs1562907232, rs1562907896, rs1562908997, rs1562894926, rs750558115, rs1562876459, rs1562895128, rs756206533, rs1481564133, rs1562914072, rs1562923253, rs1562889180, rs1562894928, rs1562906265, rs1562908889, rs1562928854, rs1584789514, rs1584785196, rs1584793546, rs1301983423, rs1408746819, rs1584787119, rs1584784850, rs1584786454, rs1584789226, rs1584793633, rs1584848754, rs397508404, rs1584789180, rs1584787782, rs1584798316, rs397508699, rs1584850283, rs1299250440, rs377447726, rs1584776437, rs1584812217, rs1584837090, rs1584764596, rs1584785072, rs1584786892, rs1584787657, rs1584787716, rs397508811, rs1584789267, rs1584793451, rs1584810167, rs1381239923, rs1584812361, rs1584812425, rs1584812646, rs1584812696, rs1584812777, rs1584817344, rs1584819340, rs1584822237, rs1584830149, rs1584830154, rs1584837173, rs397508666, rs1584848901, rs1584790302, rs1584821306, rs1584824301, rs1584793368, rs1798858347, rs1792366769, rs1792456313, rs1798467599	16463024
Hyperaldosteronism	Hyperaldosteronism	rs28934586, rs104894068, rs387906778, rs386352319, rs587777437, rs587777438, rs587777439, rs786205050, rs771507094, rs1085307938, rs1553853557, rs1553856214, rs1293789661, rs1553857113, rs758379595
Hypertension	Hypertensive disease	rs13306026	15198480
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Liddle syndrome	Liddle Syndrome, LIDDLE SYNDROME 2	rs137853342, rs137852704, rs387906402, rs137852707, rs2142050610, rs137852708, rs2141946607, rs1567270184	26537344
Pseudohypoaldosteronism	Pseudohypoaldosteronism, Pseudohypoaldosteronism, Type I, Pseudohypoaldosteronism, Type I, Autosomal Dominant, Pseudohypoaldosteronism, Type I, Autosomal Recessive, Pseudohypoaldosteronism, Type II, Generalized pseudohypoaldosteronism type 1	rs137853092, rs137853093, rs137853094, rs121912562, rs1560949756, rs1560910156, rs121912563, rs1560735659, rs121912564, rs121912565, rs121912566, rs121912567, rs121912568, rs121912569, rs121912570, rs121912571, rs121912572, rs121912573, rs121912574, rs1596779402, rs1567262640, rs1596779433, rs199469656, rs199469639, rs199469641, rs199469636, rs199469638, rs199469640, rs199469635, rs199469632, rs387907155, rs562736621, rs387907156, rs199469651, rs199469654, rs199469650, rs199469649, rs199469653, rs199469652, rs199469655, rs199469658, rs199469657, rs199469659, rs199469660, rs199469661, rs199469644, rs199469647, rs199469648, rs199469633, rs199469623, rs199469626, rs199469625, rs199469642, rs199469624, rs199469634, rs199469637, rs199469627, rs199469629, rs199469631, rs879255348, rs886038765, rs1131691921, rs1553523940, rs748573472, rs1553535841, rs1553986377, rs1560928649, rs550424284	8640238, 17634077, 26537344, 11231969, 19571553
Renal insufficiency	Renal Insufficiency	rs1596536873

Unknown
Disease term	Disease name	Evidence	References	Source
Myocardial infarction	Myocardial Infarction			ClinVar

Associations from Text Mining
Disease Name	Relationship Type	References
Achard Thiers syndrome	Stimulate	37417251
Adenocarcinoma of Lung	Associate	34111567
Bartter syndrome type 3	Associate	18443236
Breast Neoplasms	Associate	26723502
Bronchiectasis	Associate	18507830
Carcinogenesis	Associate	34111567
Carcinoma Hepatocellular	Associate	35865652
Cardiomyopathy Dilated	Associate	26437894
Cystic Fibrosis	Associate	19017867, 25900089
Dwarfism Pituitary	Associate	25157616
Essential Hypertension	Associate	15661075
Fibroma	Associate	26121316
Glioma	Associate	26108662
Hypertension	Associate	24735600, 29792170
Hypotension	Associate	18443236, 21562341
Hypoxia Brain	Stimulate	37285404
Inflammation	Associate	26723502
Liddle Syndrome	Associate	15198480, 29792170, 30977777, 31655555, 34223773, 35723567
Malaria	Inhibit	26437894
Polycystic Ovary Syndrome	Inhibit	25450293
Potassium aggravated myotonia	Associate	26723502
Precancerous Conditions	Associate	26723502
Pseudohypoaldosteronism	Stimulate	21750640
Pseudohypoaldosteronism	Associate	23762408, 27485500
Pulmonary Arterial Hypertension	Associate	31655555, 34223773
Pulmonary Edema	Inhibit	26437894
Sarcoma	Associate	26121316
Sarcoma Ewing	Associate	26121316
Squamous Cell Carcinoma of Head and Neck	Inhibit	36389709