SLC26A3 (solute carrier family 26 member 3)

Gene

• Entrez ID: 1811
• Gene name: Solute carrier family 26 member 3
• Gene symbol: SLC26A3
• Synonyms (NCBI Gene): CLD, DRA
• Chromosome: 7
• Chromosome location: 7q22.3-q31.1
• Summary: The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of c

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121913030	T>A	Pathogenic	Missense variant, coding sequence variant
rs121913031	->GAT	Pathogenic	Coding sequence variant, inframe insertion
rs121913032	C>A	Pathogenic	Coding sequence variant, stop gained
rs121913033	C>T	Pathogenic	Coding sequence variant, stop gained
rs386833444	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs386833445	AACCATTGCGATGCCGAA>GGCATC	Likely-pathogenic	Coding sequence variant, inframe indel
rs386833446	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386833447	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833448	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs386833449	C>T	Likely-pathogenic	Splice acceptor variant
rs386833450	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833451	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs386833452	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833453	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs386833454	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs386833455	C>T	Likely-pathogenic	Splice acceptor variant
rs386833456	CTCTTGGCCTTTT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833457	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs386833458	T>-	Likely-pathogenic	Splice acceptor variant
rs386833459	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833460	GC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833461	GGTT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833462	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs386833463	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386833464	AAT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs386833465	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833466	AGA>G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833467	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs386833468	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833469	C>-	Likely-pathogenic	Coding sequence variant, stop gained
rs386833471	C>A	Likely-pathogenic	Splice acceptor variant
rs386833472	CC>AAATTTTGAATTTTCACTTCAAAACCGGT,C	Likely-pathogenic	Frameshift variant, coding sequence variant, inframe indel
rs386833473	T>-,TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833474	A>C	Likely-pathogenic	Coding sequence variant, stop gained
rs386833475	T>C	Likely-pathogenic	Intron variant
rs386833476	->TT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833477	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833478	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833479	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs386833480	G>A,C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs386833481	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs386833482	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833483	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs386833484	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386833485	C>A,T	Likely-pathogenic	Splice acceptor variant
rs386833486	T>C	Likely-pathogenic	Splice acceptor variant
rs386833487	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs386833488	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386833489	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs386833490	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs386833491	CAC>-	Pathogenic	Inframe deletion, coding sequence variant
rs780815307	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1018933248	G>A	Pathogenic	Stop gained, coding sequence variant
rs1584403556	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016734	hsa-miR-335-5p	Microarray	18185580
MIRT025629	hsa-miR-7-5p	Microarray	17612493
MIRT438475	hsa-miR-494-3p	Luciferase reporter assay	24177028
MIRT438475	hsa-miR-494-3p	Luciferase reporter assay	24177028
MIRT1553744	hsa-miR-1237	CLIP-seq
MIRT1553745	hsa-miR-1245b-3p	CLIP-seq
MIRT1553746	hsa-miR-1248	CLIP-seq
MIRT1553747	hsa-miR-4699-5p	CLIP-seq
MIRT1553745	hsa-miR-1245b-3p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CIITA	Unknown	9300700
ETS1	Activation	7935445
HNF4A	Unknown	17761837
YY1	Unknown	17761837

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005452	Function	Solute:inorganic anion antiporter activity	TAS
GO:0005515	Function	Protein binding	IPI	12369822, 22627094
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	19321737, 22159084, 22627094
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006820	Process	Monoatomic anion transport	TAS	9554749
GO:0008271	Function	Secondary active sulfate transmembrane transporter activity	IEA
GO:0015106	Function	Bicarbonate transmembrane transporter activity	IEA
GO:0015106	Function	Bicarbonate transmembrane transporter activity	ISS
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	ISS
GO:0015116	Function	Sulfate transmembrane transporter activity	IBA
GO:0015297	Function	Antiporter activity	IEA
GO:0015701	Process	Bicarbonate transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019531	Function	Oxalate transmembrane transporter activity	IBA
GO:0019532	Process	Oxalate transport	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0048240	Process	Sperm capacitation	IEA
GO:0048240	Process	Sperm capacitation	ISS
GO:0051454	Process	Intracellular pH elevation	IEA
GO:0051454	Process	Intracellular pH elevation	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0060081	Process	Membrane hyperpolarization	IEA
GO:0060081	Process	Membrane hyperpolarization	ISS
GO:0071320	Process	Cellular response to cAMP	IEA
GO:0071320	Process	Cellular response to cAMP	ISS
GO:0097225	Component	Sperm midpiece	IEA
GO:0097225	Component	Sperm midpiece	ISS
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IBA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IDA	16606687, 19321737, 22159084, 22627094
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IEA
GO:1902358	Process	Sulfate transmembrane transport	IBA
GO:1902358	Process	Sulfate transmembrane transport	IEA
GO:1902476	Process	Chloride transmembrane transport	IBA

Other IDs

• MIM: 126650
• HGNC: 3018
• e!Ensembl: ENSG00000091138

Protein

• UniProt ID: P40879
• Protein name: Chloride anion exchanger (Down-regulated in adenoma) (Protein DRA) (Solute carrier family 26 member 3)
• Protein function: Mediates chloride-bicarbonate exchange with a chloride bicarbonate stoichiometry of 2:1 in the intestinal epithelia (PubMed:16606687, PubMed:19321737, PubMed:22159084, PubMed:22627094). Plays a role in the chloride and bicarbonate homeostasis du
• PDB: 7XUH, 7XUJ, 7XUL, 8IET
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00916	Sulfate_transp	73 → 475	Sulfate permease family	Family
  PF01740	STAS	526 → 716	STAS domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the colon. Expression is significantly decreased in adenomas (polyps) and adenocarcinomas of the colon. {ECO:0000269|PubMed:7683425}.
• Sequence:

  MIEPFGNQYIVARPVYSTNAFEENHKKTGRHHKTFLDHLKVCCSCSPQKAKRIVLSLFPI
  ASWLPAYRLKEWLLSDIVSGISTGIVAVLQGLAFALLVDIPPVYGLYASFFPAIIYLFFG
  TSRHISVGPFPILSMMVGLAVSGAVSKAVPDRNATTLGLPNNSNNSSLLDDERVRVAAAA
  SVTVLSGIIQLAFGILRIGFVVIYLSESLISGFTTAAAVHVLVSQLKFIFQLTVPSHTDP
  VSIFKVLYSVFSQIEKTNIADLVTALIVLLVVSIVKEINQRFKDKLPVPIPIEFIMTVIA
  AGVSYGCDFKNRFKVAVVGDMNPGFQPPITPDVETFQNTVGDCFGIAMVAFAVAFSVASV
  YSLKYDYPLDGNQELIALGLGNIVCGVFRGFAGSTALSRSAVQESTGGKTQIAGLIGAII
  VLIVVLAIGFLLAPLQKSVLAALALGNLKGMLMQFAEIGRLWRKDKYDCLIWIMTFIFTI
  VLGLGLGLAASVAFQLLTIVFRTQFPKCSTLANIGRTNIYKNKKDYYDMYEPEGVKIFRC
  PSPIYFANIGFFRRKLIDAVGFSPLRILRKRNKALRKIRKLQKQGLLQVTPKGFICTVDT
  IKDSDEELDNNQIEVLDQPINTTDLPFHIDWNDDLPLNIEVPKISLHSLILDFSAVSFLD
  VSSVRGLKSILQEFIRIKVDVYIVGTDDDFIEKLNRYEFFDGEVKSSIFFLTIHDAVLHI
  LMKKDYSTSKFNPSQEKDGKIDFTINTNGGLRNRVYEVPVETKF

• Sequence length: 764

Pathways

KEGG:

Pancreatic secretion
Mineral absorption

Reactome:

Multifunctional anion exchangers
Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)

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
Congenital secretory diarrhea, chloride type	Pathogenic; Likely pathogenic	rs1264217866, rs386833449, rs1203528953, rs775664534, rs746758186, rs2535454764, rs1171640656, rs768656789, rs2535456378, rs1794304689, rs2535478180, rs386833491, rs121913030, rs121913032, rs121913033, rs2535471250, rs386833444, rs386833445, rs386833447, rs386833448, rs386833450, rs386833451, rs386833452, rs386833453, rs386833454, rs386833455, rs386833456, rs386833457, rs386833458, rs386833459, rs386833460, rs386833461, rs386833463, rs386833465, rs386833466, rs386833467, rs386833468, rs386833469, rs121913031, rs386833471, rs386833472, rs386833473, rs386833474, rs386833475, rs386833476, rs386833477, rs386833478, rs386833479, rs386833481, rs386833482, rs386833483, rs386833484, rs386833485, rs386833486, rs386833488, rs386833489, rs386833490, rs1018933248, rs1584403556	RCV004563871 RCV005040335 RCV001775310 RCV005042624 RCV002466896 RCV003459815 RCV005047648 RCV004587531 RCV005036931 RCV005036966 RCV005038583 RCV000018239 RCV000018240 RCV000018244 RCV000018246 RCV004566658 RCV000049371 RCV000049372 RCV000049374 RCV000049375 RCV000049376 RCV000049377 RCV000049378 RCV000049379 RCV000049380 RCV000049381 RCV000049382 RCV000049383 RCV000049384 RCV000049385 RCV000049386 RCV000049387 RCV000049388 RCV000049390 RCV000049392 RCV000049393 RCV000049394 RCV000049395 RCV000049396 RCV000049397 RCV000049398 RCV000049399 RCV000049400 RCV000049401 RCV000049402 RCV000049403 RCV000049404 RCV000049405 RCV000049406 RCV000049408 RCV000049409 RCV000049410 RCV000049411 RCV000049412 RCV000049413 RCV000049414 RCV000049416 RCV000049417 RCV000049418 RCV000987941 RCV000991385	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastrointestinal obstruction	Pathogenic	rs762034228	RCV001257348	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hydrops fetalis	Pathogenic	rs386833476, rs762034228, rs1208952914	RCV001257400 RCV001257348 RCV001257349	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intestinal obstruction	Pathogenic	rs386833476, rs1208952914	RCV001257400 RCV001257349	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polyhydramnios	Pathogenic	rs386833476, rs762034228, rs1208952914	RCV001257400 RCV001257348 RCV001257349	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC26A3-related disorder	Pathogenic; Likely pathogenic	rs1264217866, rs1304534644, rs2535456352, rs386833479, rs386833486	RCV003405630 RCV003410516 RCV003899220 RCV004751246 RCV003964905	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LEFT-SIDED ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLITIS, ULCERATIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CHLORIDE DIARRHEA	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL SECRETORY CHLORIDE DIARRHEA 1	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSENTERY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondrogenesis, type IB (disorder)	Achondrogenesis	BEFREE	15720248		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	7683425, 9717812		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10192399, 29286110, 30046015, 31389695		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	19056765		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyps	Adenomatous Polyposis	BEFREE	9717812		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23460240	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28902527, 29972330		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	19915573		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	18845559	Associate	★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	19861545		★☆☆☆☆ Found in Text Mining only
Bartter Syndrome	Bartter syndrome	Pubtator	19861545, 30760291, 33095447	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26960563		★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	28267037		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	26960563		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central Core Myopathy (disorder)	Myopathy	BEFREE	28644346, 29849040, 31114672, 31477378		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	29597352		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	31145360		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	28902527		★☆☆☆☆ Found in Text Mining only
Chloasma	Melasma	BEFREE	22696060		★☆☆☆☆ Found in Text Mining only
Chronic lung disease	Lung Diseases	BEFREE	28902527		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	22266243		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	28644346, 29849040, 31114672, 31477378		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31792360		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	12181169	Inhibit	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	30452647	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	7683425	Inhibit	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	9717812		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19678923, 27121919		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19678923, 27121919, 32351322	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	9717812		★☆☆☆☆ Found in Text Mining only
Congenital chloride diarrhea	Congenital chloride diarrhea	Pubtator	11302976, 16412765, 18827800, 19861545, 21332001, 22159277, 22779076, 24350656, 25568271, 28941661, 29079751, 30635044, 30760291, 31145360, 31499577, 32295532, 32951339, 33095447, 34503561, 35679312, 40091330	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	22159084		★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	28707365, 29728782		★☆☆☆☆ Found in Text Mining only
Contact Dermatitis	Dermatitis	BEFREE	2902003		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	16421216		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	Pubtator	16333100	Associate	★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	Deafness	BEFREE	28941661		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	2999792	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	26854762		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	22779076, 25568271	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic Dysplasia	BEFREE	10192399, 11247665		★☆☆☆☆ Found in Text Mining only
Dysentery	Dysentery	Pubtator	22159277, 24177028, 25887398	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Eczema	Eczema	BEFREE	28902527		★☆☆☆☆ Found in Text Mining only
End Stage Liver Disease	End Stage Liver Disease	BEFREE	28497523		★☆☆☆☆ Found in Text Mining only
Eosinophilic leukemia	Eosinophilic Leukemia	BEFREE	9113385		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28630652		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28630652		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	22688420		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman syndrome	Pubtator	23756661	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	1502171		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	1502171, 2847168	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	1502171		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27586240		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	10744641		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	2518829	Associate	★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	12620290		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypereosinophilic Syndrome	Hypereosinophilic syndrome	Pubtator	9113385	Associate	★☆☆☆☆ Found in Text Mining only
Hypochloremia (disorder)	Hypochloremia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypokalemic metabolic alkalosis	Hypokalemia	BEFREE	18827800		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	29079751	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	16412765, 29079751	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	22159277, 32410873, 35679312	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	28572085, 28823863		★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	9482116		★☆☆☆☆ Found in Text Mining only
Lactose Intolerance, Adult Type	Lactose Intolerance	BEFREE	17345962		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	22071774, 23240095		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18603357, 28847760		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	22266243		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	31213791		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	2997276	Inhibit	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	2909809		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26960563		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	26960563		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26960563, 28673325, 9482116		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	34503561	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	BEFREE	25568271		★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus Inclusion Disease	BEFREE	27229121		★☆☆☆☆ Found in Text Mining only
Microvillus inclusion disease	Microvillus inclusion disease	Pubtator	27229121	Associate	★☆☆☆☆ Found in Text Mining only
Mineralocorticoid Excess Syndrome, Apparent	Mineralocorticoid Excess Syndrome	BEFREE	30760291		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	BEFREE	15720248		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	30643823		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12756506, 26361962, 27118869, 9482116, 9717812		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	18827800		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	20430848		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	30600295		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	26960563		★☆☆☆☆ Found in Text Mining only
Pendred syndrome	Pendred syndrome	Pubtator	32295532	Associate	★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria, type I	Hyperoxaluria	BEFREE	31201468		★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	26324191		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37516327	Inhibit	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	31213791		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	BEFREE	29504044		★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	28267037		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28267037		★☆☆☆☆ Found in Text Mining only
Spermatocele	Spermatocele	BEFREE	16421216		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28630652		★☆☆☆☆ Found in Text Mining only
Subfertility	Subfertility	BEFREE	30118583		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	12181169, 27352080, 29855681		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	19915573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vipoma	Vipoma	Pubtator	34503561	Associate	★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	29504044		★☆☆☆☆ Found in Text Mining only