SLC12A3 (solute carrier family 12 member 3)

Gene

• Entrez ID: 6559
• Gene name: Solute carrier family 12 member 3
• Gene symbol: SLC12A3
• Synonyms (NCBI Gene): NCC, NCCT, TSC
• Chromosome: 16
• Chromosome location: 16q13
• Summary: This gene encodes a renal thiazide-sensitive sodium-chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman s

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs13306668	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs28936387	T>C	Pathogenic	Missense variant, coding sequence variant
rs28936388	C>T	Pathogenic	Missense variant, coding sequence variant
rs34803727	G>A	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121909379	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121909380	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs121909382	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs121909383	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121909384	G>T	Pathogenic	Coding sequence variant, missense variant
rs121909385	T>C	Pathogenic	Coding sequence variant, missense variant
rs138977195	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs139743444	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs140012781	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs140551719	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs142679083	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs145337602	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs146158333	C>A,G,T	Pathogenic	Coding sequence variant, missense variant
rs146632606	G>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs147200024	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs147901432	G>A	Pathogenic	Coding sequence variant, missense variant
rs148038173	C>T	Pathogenic	Coding sequence variant, missense variant
rs185927948	T>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs199849117	G>A	Pathogenic	Missense variant, coding sequence variant
rs200697179	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs200817545	A>C,G,T	Pathogenic	Missense variant, coding sequence variant
rs201255508	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs201555148	G>A	Pathogenic	Splice acceptor variant
rs201945662	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs267607050	C>T	Pathogenic	Missense variant, coding sequence variant
rs267607051	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs369360334	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs370175770	G>A	Pathogenic	Missense variant, coding sequence variant
rs371443644	C>T	Pathogenic	Missense variant, coding sequence variant
rs373899077	C>T	Pathogenic	Missense variant, coding sequence variant
rs373901523	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs374055486	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs374163823	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs374182921	C>G,T	Pathogenic	Intron variant
rs374324018	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs377456965	A>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs568513106	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs747139582	C>A,T	Likely-benign, pathogenic	Synonymous variant, stop gained, coding sequence variant
rs748547209	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs749098014	G>T	Pathogenic	Splice donor variant
rs750710315	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs751409326	C>A	Pathogenic	Stop gained, coding sequence variant
rs752101663	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs753523115	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs754220610	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs754378340	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs755560627	G>T	Pathogenic	Splice acceptor variant
rs758035631	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs759377924	G>A	Pathogenic	Missense variant, coding sequence variant
rs759426055	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs759801838	GTACTG>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs764220175	T>C	Likely-pathogenic	Splice donor variant
rs768527231	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs770513014	->TC	Likely-pathogenic	Coding sequence variant, frameshift variant
rs771701344	ACCAAGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs775931992	C>T	Pathogenic	Coding sequence variant, missense variant
rs779160677	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs780299444	->CC	Pathogenic	Coding sequence variant, frameshift variant
rs886039753	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039754	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs886041108	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064793879	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1215667472	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1274973729	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1347239469	G>C,T	Pathogenic	Splice donor variant
rs1366655422	G>A	Pathogenic	Stop gained, coding sequence variant
rs1441228030	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555499123	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555499151	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1555499234	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555501437	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555501632	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1596883431	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1596890176	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017508	hsa-miR-335-5p	Microarray	18185580
MIRT708972	hsa-miR-4780	HITS-CLIP	19536157
MIRT708971	hsa-miR-6780b-3p	HITS-CLIP	19536157
MIRT708970	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT708969	hsa-miR-4469	HITS-CLIP	19536157
MIRT708968	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT708967	hsa-miR-4287	HITS-CLIP	19536157
MIRT708966	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT708965	hsa-miR-623	HITS-CLIP	19536157
MIRT708964	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT708963	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT708962	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT708961	hsa-miR-676-3p	HITS-CLIP	19536157
MIRT708960	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT708959	hsa-miR-2355-3p	HITS-CLIP	19536157
MIRT444616	hsa-miR-5680	PAR-CLIP	22100165
MIRT444615	hsa-miR-4329	PAR-CLIP	22100165
MIRT444614	hsa-miR-4524a-3p	PAR-CLIP	22100165
MIRT444613	hsa-miR-1273e	PAR-CLIP	22100165
MIRT444616	hsa-miR-5680	PAR-CLIP	22100165
MIRT444615	hsa-miR-4329	PAR-CLIP	22100165
MIRT444614	hsa-miR-4524a-3p	PAR-CLIP	22100165
MIRT444613	hsa-miR-1273e	PAR-CLIP	22100165
MIRT708972	hsa-miR-4780	HITS-CLIP	19536157
MIRT708971	hsa-miR-6780b-3p	HITS-CLIP	19536157
MIRT708970	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT708969	hsa-miR-4469	HITS-CLIP	19536157
MIRT708968	hsa-miR-7113-3p	HITS-CLIP	19536157
MIRT708967	hsa-miR-4287	HITS-CLIP	19536157
MIRT708966	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT708965	hsa-miR-623	HITS-CLIP	19536157
MIRT708964	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT708963	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT708962	hsa-miR-6867-3p	HITS-CLIP	19536157
MIRT708961	hsa-miR-676-3p	HITS-CLIP	19536157
MIRT708960	hsa-miR-629-3p	HITS-CLIP	19536157
MIRT708959	hsa-miR-2355-3p	HITS-CLIP	19536157
MIRT444616	hsa-miR-5680	PAR-CLIP	22100165
MIRT444615	hsa-miR-4329	PAR-CLIP	22100165
MIRT444614	hsa-miR-4524a-3p	PAR-CLIP	22100165
MIRT444613	hsa-miR-1273e	PAR-CLIP	22100165
MIRT444616	hsa-miR-5680	PAR-CLIP	22100165
MIRT444615	hsa-miR-4329	PAR-CLIP	22100165
MIRT444614	hsa-miR-4524a-3p	PAR-CLIP	22100165
MIRT444613	hsa-miR-1273e	PAR-CLIP	22100165
MIRT1351987	hsa-miR-1285	CLIP-seq
MIRT1351988	hsa-miR-1301	CLIP-seq
MIRT1351989	hsa-miR-1303	CLIP-seq
MIRT1351990	hsa-miR-3187-5p	CLIP-seq
MIRT1351991	hsa-miR-3614-5p	CLIP-seq
MIRT1351992	hsa-miR-3914	CLIP-seq
MIRT1351993	hsa-miR-4293	CLIP-seq
MIRT1351994	hsa-miR-4660	CLIP-seq
MIRT1351995	hsa-miR-4680-5p	CLIP-seq
MIRT1351996	hsa-miR-4698	CLIP-seq
MIRT1351997	hsa-miR-502-5p	CLIP-seq
MIRT1351998	hsa-miR-5047	CLIP-seq
MIRT1351999	hsa-miR-5096	CLIP-seq
MIRT1352000	hsa-miR-558	CLIP-seq
MIRT1352001	hsa-miR-596	CLIP-seq
MIRT1352002	hsa-miR-612	CLIP-seq
MIRT1352003	hsa-miR-651	CLIP-seq
MIRT1352004	hsa-miR-661	CLIP-seq
MIRT1351988	hsa-miR-1301	CLIP-seq
MIRT1351989	hsa-miR-1303	CLIP-seq
MIRT1351997	hsa-miR-502-5p	CLIP-seq
MIRT1351998	hsa-miR-5047	CLIP-seq
MIRT1553708	hsa-miR-3665	CLIP-seq
MIRT1553709	hsa-miR-4268	CLIP-seq
MIRT1553710	hsa-miR-657	CLIP-seq
MIRT2104308	hsa-miR-205	CLIP-seq
MIRT2104309	hsa-miR-3122	CLIP-seq
MIRT2104310	hsa-miR-3689a-3p	CLIP-seq
MIRT2104311	hsa-miR-3689c	CLIP-seq
MIRT2104312	hsa-miR-3913-5p	CLIP-seq
MIRT2104313	hsa-miR-4428	CLIP-seq
MIRT2104314	hsa-miR-508-5p	CLIP-seq
MIRT2328623	hsa-miR-24	CLIP-seq
MIRT2104309	hsa-miR-3122	CLIP-seq
MIRT2328624	hsa-miR-3124-3p	CLIP-seq
MIRT2104312	hsa-miR-3913-5p	CLIP-seq
MIRT2328625	hsa-miR-4284	CLIP-seq
MIRT2328626	hsa-miR-587	CLIP-seq
MIRT2394610	hsa-miR-1293	CLIP-seq
MIRT2104309	hsa-miR-3122	CLIP-seq
MIRT2104310	hsa-miR-3689a-3p	CLIP-seq
MIRT2104311	hsa-miR-3689c	CLIP-seq
MIRT2104312	hsa-miR-3913-5p	CLIP-seq
MIRT2394611	hsa-miR-4483	CLIP-seq
MIRT2623125	hsa-miR-1226	CLIP-seq
MIRT2623126	hsa-miR-3591-3p	CLIP-seq
MIRT2623127	hsa-miR-3675-3p	CLIP-seq
MIRT2623128	hsa-miR-4684-5p	CLIP-seq
MIRT2623129	hsa-miR-505	CLIP-seq
MIRT2623125	hsa-miR-1226	CLIP-seq
MIRT2623126	hsa-miR-3591-3p	CLIP-seq
MIRT2623127	hsa-miR-3675-3p	CLIP-seq
MIRT2623128	hsa-miR-4684-5p	CLIP-seq
MIRT2623129	hsa-miR-505	CLIP-seq
MIRT2690828	hsa-miR-548c-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0005515	Function	Protein binding	IPI	22406640
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA	22009145, 36370249
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8670281
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	ISS
GO:0006884	Process	Cell volume homeostasis	IBA
GO:0008511	Function	Sodium:potassium:chloride symporter activity	IBA
GO:0015081	Function	Sodium ion transmembrane transporter activity	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015377	Function	Chloride:monoatomic cation symporter activity	IEA
GO:0015378	Function	Sodium:chloride symporter activity	IDA	18270262, 36351028, 36792826
GO:0015378	Function	Sodium:chloride symporter activity	IEA
GO:0015378	Function	Sodium:chloride symporter activity	TAS	8528245
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	8670281
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	21397062
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0035725	Process	Sodium ion transmembrane transport	ISS
GO:0055064	Process	Chloride ion homeostasis	IBA
GO:0055075	Process	Potassium ion homeostasis	IBA
GO:0055078	Process	Sodium ion homeostasis	IBA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070062	Component	Extracellular exosome	IDA	21082674
GO:0070294	Process	Renal sodium ion absorption	IDA	18270262
GO:1902074	Process	Response to salt	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1904044	Process	Response to aldosterone	IEA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA

Other IDs

• MIM: 600968
• HGNC: 10912
• e!Ensembl: ENSG00000070915

Protein

• UniProt ID: P55017
• Protein name: Solute carrier family 12 member 3 (Na-Cl cotransporter) (NCC) (Na-Cl symporter) (Thiazide-sensitive sodium-chloride cotransporter)
• Protein function: Electroneutral sodium and chloride ion cotransporter, which acts as a key mediator of sodium and chloride reabsorption in kidney distal convoluted tubules (PubMed:18270262, PubMed:21613606, PubMed:22009145, PubMed:36351028, PubMed:36792826). Als
• PDB: 7Y6I, 7YG0, 7YG1, 8FHN, 8FHO, 8FHP, 8FHQ, 8FHR, 8FHT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08403	AA_permease_N	45 → 116	Amino acid permease N-terminal	Family
  PF00324	AA_permease	141 → 647	Amino acid permease	Family
  PF03522	SLC12	655 → 810	Solute carrier family 12	Family
  PF03522	SLC12	795 → 1020	Solute carrier family 12	Family

• Tissue specificity: TISSUE SPECIFICITY: Predominantly expressed in the kidney (at protein level) (PubMed:29993276, PubMed:8812482). Localizes to the distal convoluted tubules (at protein level) (PubMed:29993276). Not detected in normal aorta, but abundantly expressed in fatt
• Sequence:

  MAELPTTETPGDATLCSGRFTISTLLSSDEPSPPAAYDSSHPSHLTHSSTFCMRTFGYNT
  IDVVPTYEHYANSTQPGEPRKVRPTLADLHSFLKQEGRHLHALAFDSRPSHEMTDGLVEG
  EAGTSSEKNPEEPVRFGWVKGVMIRCMLNIWGVILYLRLPWITAQAGIVLTWIIILLSVT
  VTSITGLSISAISTNGKVKSGGTYFLISRSLGPELGGSIGLIFAFANAVGVAMHTVGFAE
  TVRDLLQEYGAPIVDPINDIRIIAVVSVTVLLAISLAGMEWESKAQVLFFLVIMVSFANY
  LVGTLIPPSEDKASKGFFSYRADIFVQNLVPDWRGPDGTFFGMFSIFFPSATGILAGANI
  SGDLKDPAIAIPKGTLMAIFWTTISYLAISATIGSCVVRDASGVLNDTVTPGWGACEGLA
  CSYGWNFTECTQQHSCHYGLINYYQTMSMVSGFAPLITAGIFGATLSSALACLVSAAKVF
  QCLCEDQLYPLIGFFGKGYGKNKEPVRGYLLAYAIAVAFIIIAELNTIAPIISNFFLCSY
  ALINFSCFHASITNSPGWRPSFQYYNKWAALFGAIISVVIMFLLTWWAALIAIGVVLFLL
  LYVIYKKPEVNWGSSVQAGSYNLALSYSVGLNEVEDHIKNYRPQCLVLTGPPNFRPALVD
  FVGTFTRNLSLMICGHVLIGPHKQRMPELQLIANGHTKWLNKRKIKAFYSDVIAEDLRRG
  VQILMQAAGLGRMKPNILVVGFKKNWQSAHPATVEDYIGILHDAFDFNYGVCVMRMREGL
  NVSKMMQAHINPVFDPAEDGKEASARVDPKALVKEEQATTIFQSEQGKKTIDIYWLFDDG
  GLTLLIPYLLGRKRRWSKCKIRVFVGGQINRMDQERKAIISLLSKFRLGFHEVHILPDIN
  QNPRAEHTKRFEDMIAPFRLNDGFKDEATVNEMRRDCPWKISDEEITKNRVKSLRQVRLN
  EIVLDYSRDAALIVITLPIGRKGKCPSSLYMAWLETLSQDLRPPVILIRGNQENVLTFYC
  Q

• Sequence length: 1021

Pathways

KEGG:

Parathyroid hormone synthesis, secretion and action

Reactome:

Cation-coupled Chloride cotransporters
Defective SLC12A3 causes Gitelman syndrome (GS)

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
Bartter syndrome	Likely pathogenic; Pathogenic	rs138977195, rs121909380, rs199974259, rs140012781, rs201555148, rs759377924, rs34803727, rs750710315, rs776210036, rs781209989, rs1451284628	RCV001328096 RCV001328221 RCV001328169 RCV001328101 RCV001328170 RCV001328223 RCV001328220 RCV001328167 RCV001328171 RCV001328173 RCV001328166	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer	Likely pathogenic; Pathogenic	rs202114767	RCV005899615	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial aortopathy	Pathogenic	rs759377924	RCV004544962	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hypokalemia-hypomagnesemia	Likely pathogenic; Pathogenic	rs777815715, rs1401379546, rs2055071588, rs150046661, rs781137708, rs200219778, rs755069436, rs748575829, rs2144723594, rs779215330, rs754576009, rs761692493, rs765609579, rs371443644, rs2144689577, rs1297766065, rs751112698, rs28936387, rs757792232, rs267607051, rs758020565, rs1294865855, rs2144695518, rs779160677, rs2144689801, rs2144772485, rs2144714194, rs747383768, rs2144677696, rs2144682680, rs776181500, rs753840283, rs748920885, rs751675724, rs1298687889, rs199511487, rs2144711663, rs2144719500, rs1347239469, rs2144767026, rs758035631, rs1375515522, rs2144719508, rs750735794, rs2144711571, rs2144678137, rs757471117, rs2144723074, rs781342495, rs751929135, rs769248531, rs775232139, rs2144733006, rs755475785, rs1596895536, rs1319085522, rs759549058, rs2144723125, rs769412145, rs2144767166, rs1325615258, rs1227599828, rs1456555803, rs760759330, rs2144766556, rs2144681043, rs750901478, rs1384167696, rs764833797, rs2144695925, rs2055071198, rs2543488643, rs2055341698, rs1028685823, rs2543515349, rs1251732657, rs148945966, rs373017321, rs121909382, rs546999572, rs201721269, rs2055072815, rs770038566, rs138977195, rs568513106, rs2543531562, rs770702194, rs185927948, rs121909379, rs28936388, rs755560627, rs121909380, rs121909383, rs2144723103, rs121909384, rs121909385, rs267607050, rs2543473321, rs2543483331, rs2543511911, rs886041108, rs2543483872, rs1280772093, rs2055211978, rs2543473065, rs775765261, rs2055276585, rs202114767, rs1272158837, rs1321932022, rs2543515354, rs2144730439, rs1310654829, rs2543515886, rs1250318081, rs201255508, rs374163823, rs2543523215, rs2543584461, rs1246053601, rs1596886086, rs2543480089, rs2543515261, rs147901432, rs199974259, rs13306668, rs200697179, rs200817545, rs140012781, rs749098014, rs373899077, rs201555148, rs140551719, rs775931992, rs771701344, rs199849117, rs1555499234, rs759801838, rs1555499151, rs1555501632, rs752101663, rs759426055, rs759377924, rs1366655422, rs754378340, rs34803727, rs370175770, rs768527231, rs201945662, rs145337602, rs1596890176, rs139743444, rs780299444, rs1596883431, rs751409326, rs1274973729, rs146158333, rs747139582, rs753523115, rs148038173, rs374182921, rs761242621, rs369360334, rs374055486, rs750710315, rs770513014, rs758683818, rs776210036, rs746818109, rs747249619, rs771326058, rs746623621, rs781209989, rs1246662762, rs2055082369, rs751871500, rs2055411543, rs769798104, rs201190064, rs780594361, rs181865675, rs1244866304, rs778455414, rs775799617, rs2055081574, rs1187506921, rs2055189357, rs2055210001, rs1964322654, rs2055084531, rs1451284628, rs2055190908, rs373901523, rs760134110	RCV002286834 RCV001329193 RCV005015670 RCV001831367 RCV002504631 RCV001542489 RCV001826158 RCV002243171 RCV001831394 RCV001807397 RCV006249753 RCV002493932 RCV001826181 RCV000087747 RCV001526394 RCV001535886 RCV001542490 RCV002502009 RCV002243433 RCV001730038 RCV001733790 RCV001784974 RCV001783751 RCV001801295 RCV001801303 RCV001804220 RCV001805746 RCV001823449 RCV001824227 RCV002243501 RCV005008327 RCV005006314 RCV002497870 RCV002290814 RCV002503482 RCV002243505 RCV002243480 RCV004690200 RCV005008308 RCV002484810 RCV005008309 RCV002498026 RCV002243499 RCV005016935 RCV002506984 RCV002471179 RCV005008301 RCV005017010 RCV002507700 RCV003331251 RCV003230719 RCV005016957 RCV005017044 RCV002243478 RCV003314029 RCV003323942 RCV002245154 RCV002245158 RCV002245161 RCV002245163 RCV002245164 RCV002245167 RCV002245168 RCV002245169 RCV002245170 RCV002245172 RCV002245173 RCV002245174 RCV002245175 RCV002245178 RCV002245181 RCV002245187 RCV002283800 RCV002283819 RCV002288428 RCV002289071 RCV004796762 RCV005019587 RCV005019588 RCV005010906 RCV004796763 RCV003988065 RCV005008633 RCV003324041 RCV000190624 RCV000191129 RCV005631066 RCV005019482 RCV000490297 RCV000009115 RCV000009116 RCV000009117 RCV000009118 RCV000009119 RCV000009120 RCV000009121 RCV000009122 RCV000009123 RCV000009124 RCV000009125 RCV000009126 RCV001807148 RCV003134015 RCV003134019 RCV003158009 RCV000258950 RCV003314331 RCV003322725 RCV003388755 RCV003479792 RCV005013024 RCV005014775 RCV005014835 RCV005014847 RCV005013094 RCV005014858 RCV005013099 RCV005616830 RCV003992088 RCV003994921 RCV000380828 RCV000286818 RCV004527202 RCV004555441 RCV004556172 RCV004577936 RCV004595091 RCV004595242 RCV000362354 RCV001271445 RCV000762973 RCV000449562 RCV000454555 RCV000477915 RCV000477802 RCV000501643 RCV000504824 RCV000762971 RCV001274377 RCV000762972 RCV001276379 RCV001271446 RCV000522635 RCV000578467 RCV000625612 RCV000625608 RCV001807314 RCV000762974 RCV002245585 RCV000760979 RCV005021116 RCV001825428 RCV000762975 RCV001807339 RCV000779192 RCV000778472 RCV000779193 RCV000786876 RCV000786873 RCV001274375 RCV001825611 RCV002501092 RCV001251514 RCV001115368 RCV002282370 RCV001276374 RCV001276376 RCV001251115 RCV001276383 RCV001807374 RCV001276382 RCV001004939 RCV001328167 RCV001827172 RCV001832505 RCV001328171 RCV001276375 RCV001281278 RCV001827438 RCV001832488 RCV001328173 RCV001833890 RCV001828761 RCV001828726 RCV001833878 RCV001833882 RCV004594250 RCV001807392 RCV001828656 RCV001833866 RCV001807391 RCV001833800 RCV001833931 RCV003324350 RCV001828849 RCV002245892 RCV001833973 RCV001281277 RCV001251491 RCV001830070 RCV001328166 RCV001280859 RCV001807395 RCV001807396	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypermagnesemia	Likely pathogenic; Pathogenic	rs138977195	RCV000626663	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypokalemia	Likely pathogenic; Pathogenic	rs138977195	RCV000626663	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Inherited renal tubular disease	Likely pathogenic; Pathogenic	rs138977195	RCV004017477	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscle weakness	Likely pathogenic; Pathogenic	rs138977195	RCV000626663	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myalgia	Likely pathogenic; Pathogenic	rs138977195	RCV000626663	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubular acidosis	Likely pathogenic; Pathogenic	rs121909383	RCV005624681	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubulopathies	Pathogenic; Likely pathogenic	rs779215330, rs750901478, rs138977195, rs121909379, rs267607050, rs199974259, rs758035631	RCV005863438 RCV006257354 RCV006250219 RCV006255128 RCV006257289 RCV006250221 RCV006270237	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC12A3-related disorder	Likely pathogenic; Pathogenic	rs150046661, rs781342495, rs138977195, rs770702194, rs121909379, rs1280772093, rs2055276585, rs201555148, rs140551719, rs759377924, rs145337602, rs148038173, rs374182921, rs758035631	RCV003918895 RCV003893019 RCV003401040 RCV003403969 RCV003421914 RCV003966315 RCV003402963 RCV003925548 RCV003409740 RCV004745564 RCV004745583 RCV004745590 RCV003928288 RCV003413782	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC RENAL TUBULAR DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GITELMAN SYNDROME	—	CTD, Disgenet, GWAS catalog, HPO, Orphanet CTD, Disgenet, GWAS catalog, HPO, Orphanet CTD, Disgenet, GWAS catalog, HPO, Orphanet CTD, Disgenet, GWAS catalog, HPO, Orphanet CTD, Disgenet, GWAS catalog, HPO, Orphanet	★★☆☆☆ 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
KIDNEY DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUMINAL A BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOID LEUKEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abdominal obesity metabolic syndrome	Metabolic Syndrome	BEFREE	15716982		★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	31352585		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	19250671, 19286253		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	25476905, 31619031		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	11696455		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	15565817		★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Angiomyolipoma of kidney	Angiomyolipoma Of Kidney	BEFREE	18988705, 30036593, 31619031		★☆☆☆☆ Found in Text Mining only
Antiphospholipid Syndrome	Antiphospholipid syndrome	Pubtator	27803420	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	17468934		★☆☆☆☆ Found in Text Mining only
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA	Gordon syndrome	BEFREE	21088576, 24266877		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	17468934		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21079609		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	9813776		★☆☆☆☆ Found in Text Mining only
Autosomal dominant hypocalcemia	Hypocalcemia	BEFREE	15056980		★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	11408395, 11780689, 11826289, 15056980, 15980941, 21631963, 22245519		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Disease	Bartter syndrome	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Syndrome	Bartter syndrome	Pubtator	21631963, 32758178	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bartter syndrome type 3	Bartter syndrome	Pubtator	33807568	Associate	★☆☆☆☆ Found in Text Mining only
Bartter Syndrome Type 3 with Hypocalciuria	Bartter syndrome	Pubtator	18520105, 26770037, 27783806, 29378538, 32758178	Associate	★☆☆☆☆ Found in Text Mining only
Bartter syndrome, type 3	Bartter syndrome	BEFREE	16306206, 27173320		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	16713332		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	22568564	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15951164, 16713332, 26092859		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	35113855	Associate	★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	30340552	Associate	★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	BEFREE	30813745		★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	11753085, 31420607		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	16713332		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	32144299, 34449964, 37657024, 38290445, 39348357	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	16713332		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	29661184		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	31727750		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	29661184	Associate	★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	CHARGE Syndrome	BEFREE	29179815		★☆☆☆☆ Found in Text Mining only
Chondrocalcinosis	Chondrocalcinosis	Pubtator	32292023, 33807568	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	30737713		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	16505253, 28744814, 31660880		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30174443		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	19451210		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29941307, 29975249		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30859284		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30859284		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	31480784	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	30859284		★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	29726949		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	24433479		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24433479		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	28446151, 34348722	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	17653210, 32600448, 32634861, 32702863, 34348722, 34617250, 37327293	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	15915338, 16505253, 17653210, 18263927, 24433479, 25401745, 28744814, 31660880		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	17653210, 32634861	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	14578305, 15915338, 16505253, 17653210, 18263927, 25401745, 27699784, 28744814, 31660880		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	14578305, 15915338, 18263927		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	16505253		★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	31577716	Associate	★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	31480784	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	26758984		★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	30911571		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	20358377, 25030328, 28236577, 28529525, 29078087, 30911571		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	15480096, 15824464, 16505253, 17885550, 17997379, 18362449, 21644207, 21644212, 23079845, 26345939		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Hypertension	Hypertension	Pubtator	18362449, 21644207, 28274929, 29808706	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	19175396		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	15221338		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Focal seizures, afebril	Focal Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	16713332		★☆☆☆☆ Found in Text Mining only
Gardner Syndrome	Gardner Syndrome	BEFREE	17414160		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Sarcoma	Gastrointestinal stromal tumor	BEFREE	28777148		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	28646232		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman Syndrome	BEFREE	10561140, 10616841, 11316244, 11780689, 12008755, 12112667, 12472765, 12590198, 12911530, 14655226, 14675033, 14750096, 15056980, 15069170, 15102966, 15198479, 15480096, 15824853, 15902302, 15980941, 16142886, 16221718, 16370563, 16429844, 17044667, 17059986, 17061123, 17329572, 17414160, 17873326, 17954289, 18287808, 18469313, 18520105, 19033254, 19207868, 19420906, 19451210, 19668106, 20552229, 20675610, 20848653, 21051746, 21753071, 22009145, 22169961, 22241817, 22245519, 22679066, 23328711, 23345488, 23833262, 24162365, 24830959, 25060058, 25165177, 25273610, 25990047, 26260218, 26306968, 26770037, 26825084, 27173320, 27216017, 27454426, 27529443, 27783806, 27784896, 28325561, 28446151, 28685938, 29378538, 29808706, 29925901, 30084681, 30201548, 30305584, 30340552, 30558554, 30813745, 30922139, 30999883, 31398183, 31506066, 31577716, 31660880, 31808035, 8528245, 8640224, 8865231, 8897553, 8900229, 8954067, 9596079, 9690036		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gitelman Syndrome	Gitelman Syndrome	CTD_human_DG	10561751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gitelman Syndrome	Gitelman Syndrome	UNIPROT_DG	10616841, 10988270, 11168953, 11940055, 12008755, 12112667, 15069170, 15687331, 16429844, 17654016, 17873326, 22009145, 26099046, 8528245, 8900229, 8954067, 9734597		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gitelman Syndrome	Gitelman syndrome	Pubtator	11168953, 12008755, 12172059, 12472765, 12911530, 14675033, 15198479, 15206555, 16543691, 18520105, 21051746, 21415153, 21628937, 21631963, 21757836, 21970949, 22214629, 22728489, 23328711, 23345488, 23756661, 24162365, 24965226, 25060058, 25273610, 26306968, 26770037, 27173320, 27582097, 27783806, 27803420, 28003083, 28125972, 28446151, 28700713, 29378538, 29808706, 30305584, 30340552, 30945685, 30999883, 31105122, 31285285, 31305454, 31398183, 31577716, 31916727, 32292023, 32702863, 32758178, 32758191, 33328404, 33370877, 33462018, 33542107, 33735743, 33807568, 34046503, 34348722, 34607911, 34617250, 35131782, 35148746, 35327948, 35509038, 35545335, 35883046, 36302598, 36597580, 37327293, 37537162, 37657006, 38630244, 39183425, 39210578, 8900229, 9260778, 9734597	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gitelman Syndrome	Gitelman Syndrome	LHGDN	12686679, 14675033, 16221718, 17159356, 17329572, 17654016, 17873326, 18469313		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gitelman Syndrome	Gitelman Syndrome	ORPHANET_DG	22169961, 22990302		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gitelman syndrome	Gitelman Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gitelman Syndrome	Gitelman syndrome	Pubtator	31586298	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gitelman Syndrome	Gitelman Syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	31258848		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31258848		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	35883046	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	30084681		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	14675033	Associate	★☆☆☆☆ Found in Text Mining only
Hamartoma	Hamartoma	BEFREE	10205261, 12202993, 20526286, 7849741, 9210877		★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	15565817, 15611656		★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto disease	Pubtator	34046503	Associate	★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemimegalencephaly	Hemimegalencephaly	BEFREE	15221338		★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	35113855	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	BEFREE	29767556		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	30110571		★☆☆☆☆ Found in Text Mining only
Hypercalciuria	Hypercalciuria	Pubtator	32758178	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	31480784	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	Pubtator	32702863	Associate	★☆☆☆☆ Found in Text Mining only
Hypermagnesemia	Hypermagnesemia	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperparathyroidism Primary	Hyperparathyroidism	Pubtator	39183425	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	18391953, 20555294, 21644207, 23328711, 24266877, 26336164, 26751802, 29661184, 30248150, 37065732, 38634133	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	11564973, 14871048, 15309683, 15480096, 15716982, 16403833, 17885550, 17951312, 18701621, 20889219, 21088576, 21644207, 21644212, 22080857, 23348737, 24266877, 24310820, 24382868, 24430698, 25565204, 25753977, 26345939, 26751802, 27942049, 28067240, 28442491, 28744814, 29131070, 29510178, 29631358, 29726949, 30723251, 31647304		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	15480096, 17885550, 17981812, 17997379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	18480177		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	31480784	Associate	★☆☆☆☆ Found in Text Mining only
Hypocalciuric hypercalcemia, familial, type 1	Hypocalciuric Hypercalcemia	BEFREE	17018846		★☆☆☆☆ Found in Text Mining only
Hypokalemic alkalosis	Hypokalemia	BEFREE	11408395, 21753071		★☆☆☆☆ Found in Text Mining only
Hypokalemic alkalosis	Hypokalemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypokalemic metabolic alkalosis	Hypokalemia	BEFREE	12590198, 26260218, 26770037		★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	Pubtator	31305454	Associate	★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	18391953	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic hypercalciuria	Hypercalciuria	BEFREE	9519207		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	9813776		★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31352585		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	21559457		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	CTD_human_DG	21865292		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	24433479, 27699784, 9874854		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	34046503, 37248651	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure Chronic	Kidney failure	Pubtator	35327948	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	16505253, 28744814, 31660880		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	15662135		★☆☆☆☆ Found in Text Mining only
LATERAL MENINGOCELE SYNDROME	Lateral Meningocele Syndrome	BEFREE	28981730		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	BEFREE	21243421		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	25476905, 31619031		★☆☆☆☆ Found in Text Mining only
LIMB-MAMMARY SYNDROME	Limb-Mammary Syndrome	BEFREE	28981730		★☆☆☆☆ Found in Text Mining only
Liposarcoma, Dedifferentiated	liposarcoma	BEFREE	28099935		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27338036, 31132813		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	30305584	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	35113855	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35113855	Associate	★☆☆☆☆ Found in Text Mining only
Lymphangioleiomyomatosis	Lymphangiomyomatosis	BEFREE	10823953, 11829138, 25476905, 25780943, 28202529, 28972182, 29171770, 29339522, 29927757, 30922357		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15951164, 16713332, 26092859		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	11753085		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	16713332		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	16713332		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11603814, 12773163, 19648120, 26092859, 28202529, 28441632, 31207499, 9874854		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	9642161		★☆☆☆☆ Found in Text Mining only
Marfan Syndrome	Marfan Syndrome	BEFREE	30737712		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	21042217		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	9813776		★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	BEFREE	11826289, 27216017, 30201548		★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	22080857		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	34607911	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	20031564	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10205261, 11129334, 11564212, 15565817, 15611656, 16713332, 16732329, 18538015, 19013721, 19250671, 23865520, 25476905, 25517951, 27845047, 29406787, 29450702, 29980790, 30050412, 30622053, 30737712, 31420607, 31619031, 8162074, 8755927, 8950679, 9210877, 9642161		★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	12112667		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	Pubtator	12472765	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	35883046	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	32292023	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	29975249		★☆☆☆☆ Found in Text Mining only
Nocturia	Nocturia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30816954		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25768006		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25768006	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	16142886, 9519207		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	16713332		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parathyroid Adenoma	Parathyroid Adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pericardial effusion	Pericardial effusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	BEFREE	15565817		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	35627249	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35113855	Associate	★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	30340552, 34046503	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type II	Pseudohypoaldosteronism	BEFREE	11903313, 15309683, 16964266, 18701621, 21088576, 22080857, 23833262, 24266877, 28365586, 28414128		★☆☆☆☆ Found in Text Mining only
PSEUDOHYPOALDOSTERONISM, TYPE IID	Pseudohypoaldosteronism	BEFREE	25113964, 25565204, 28442491, 29459793, 30301860		★☆☆☆☆ Found in Text Mining only
Pseudotumor Cerebri	intracranial hypertension	BEFREE	17059986		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	28803039		★☆☆☆☆ Found in Text Mining only
Raynaud Phenomenon	Raynaud Phenomenon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	11753085		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29941307, 29975249		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	29787809		★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	BEFREE	16471174, 20675610, 28744758		★☆☆☆☆ Found in Text Mining only
Rhabdomyoma	Rhabdomyoma	BEFREE	10340649, 30279084		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	29450702		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
SeSAME syndrome	SeSAME Syndrome	BEFREE	30110571		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	29080681		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	18538015		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30695048		★☆☆☆☆ Found in Text Mining only
Subclinical hypothyroidism	Subclinical Hypothyroidism	BEFREE	30084681		★☆☆☆☆ Found in Text Mining only
Subependymal Giant Cell Astrocytoma	Astrocytoma	BEFREE	21042217, 27860334, 31258848		★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	29450702		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	25451314		★☆☆☆☆ Found in Text Mining only
Tetany	Tetany	Pubtator	37058043	Associate	★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	BEFREE	28646232		★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Stenosis	Tricuspid Valve Stenosis	BEFREE	28646232		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	10205261, 10534239, 11829138, 12202993, 15951164, 16713332, 18414839, 19005330, 19143643, 19234517, 19250671, 20358377, 20498439, 20526286, 21079609, 22571569, 2303253, 24884933, 25281918, 25476905, 25591831, 26069922, 26563443, 27862655, 27918305, 28089566, 28646232, 31207499, 31612306, 7670658, 7849741, 8950679, 9813776		★☆☆☆☆ Found in Text Mining only
TUBEROUS SCLEROSIS 1 (disorder)	Tuberous Sclerosis	BEFREE	9924605		★☆☆☆☆ Found in Text Mining only
Uric acid urolithiasis	Uric Acid Urolithiasis	BEFREE	30781839		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	36925204	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	CTD_human_DG	23348737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vasospasm Intracranial	Intracranial vasospasm	Pubtator	22568564	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	37904849	Associate	★☆☆☆☆ Found in Text Mining only