SLC12A1 (solute carrier family 12 member 1)

Gene

• Entrez ID: 6557
• Gene name: Solute carrier family 12 member 1
• Gene symbol: SLC12A1
• Synonyms (NCBI Gene): BSC, BSC-1, BSC1, CCC2, NKCC2
• Chromosome: 15
• Chromosome location: 15q21.1
• Summary: This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle`s loop and the macula densa. It plays a key role in concentrating urine an

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34819316	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142646329	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs779588655	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1057519608	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1057520300	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1351875	hsa-miR-2052	CLIP-seq
MIRT1351876	hsa-miR-23a	CLIP-seq
MIRT1351877	hsa-miR-23b	CLIP-seq
MIRT1351878	hsa-miR-23c	CLIP-seq
MIRT1351879	hsa-miR-323-5p	CLIP-seq
MIRT1351880	hsa-miR-3646	CLIP-seq
MIRT1351881	hsa-miR-3662	CLIP-seq
MIRT1351882	hsa-miR-433	CLIP-seq
MIRT1351883	hsa-miR-4424	CLIP-seq
MIRT1351884	hsa-miR-4742-3p	CLIP-seq
MIRT1351885	hsa-miR-548c-3p	CLIP-seq
MIRT1351886	hsa-miR-561	CLIP-seq
MIRT1351887	hsa-miR-876-3p	CLIP-seq
MIRT2104285	hsa-miR-1305	CLIP-seq
MIRT1351876	hsa-miR-23a	CLIP-seq
MIRT1351877	hsa-miR-23b	CLIP-seq
MIRT1351878	hsa-miR-23c	CLIP-seq
MIRT2104286	hsa-miR-944	CLIP-seq
MIRT2104285	hsa-miR-1305	CLIP-seq
MIRT1351876	hsa-miR-23a	CLIP-seq
MIRT1351877	hsa-miR-23b	CLIP-seq
MIRT1351878	hsa-miR-23c	CLIP-seq
MIRT2104286	hsa-miR-944	CLIP-seq
MIRT2394603	hsa-miR-1231	CLIP-seq
MIRT2394604	hsa-miR-4288	CLIP-seq
MIRT2394605	hsa-miR-4434	CLIP-seq
MIRT2394606	hsa-miR-4516	CLIP-seq
MIRT2394607	hsa-miR-4531	CLIP-seq
MIRT2394608	hsa-miR-516b	CLIP-seq
MIRT2394609	hsa-miR-632	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7929272
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006884	Process	Cell volume homeostasis	IBA
GO:0006884	Process	Cell volume homeostasis	IDA	21321328
GO:0008511	Function	Sodium:potassium:chloride symporter activity	IBA
GO:0008511	Function	Sodium:potassium:chloride symporter activity	IDA	21321328
GO:0008511	Function	Sodium:potassium:chloride symporter activity	IEA
GO:0008511	Function	Sodium:potassium:chloride symporter activity	TAS	8640224
GO:0015293	Function	Symporter activity	IEA
GO:0015377	Function	Chloride:monoatomic cation symporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	7929272
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	21321328
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	ISS
GO:0035725	Process	Sodium ion transmembrane transport	IBA
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	15326289, 21082674
GO:1902476	Process	Chloride transmembrane transport	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	IBA

Other IDs

• MIM: 600839
• HGNC: 10910
• e!Ensembl: ENSG00000074803

Protein

• UniProt ID: Q13621
• Protein name: Solute carrier family 12 member 1 (Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1) (BSC1) (Kidney-specific Na-K-Cl symporter) (Na-K-2Cl cotransporter 2) (NKCC2)
• Protein function: Renal sodium, potassium and chloride ion cotransporter that mediates the transepithelial NaCl reabsorption in the thick ascending limb and plays an essential role in the urinary concentration and volume regulation (PubMed:21321328). Electrically
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08403	AA_permease_N	90 → 157	Amino acid permease N-terminal	Family
  PF00324	AA_permease	182 → 686	Amino acid permease	Family
  PF03522	SLC12	694 → 1099	Solute carrier family 12	Family

• Tissue specificity: TISSUE SPECIFICITY: Kidney; localizes to the thick ascending limbs (at protein level). {ECO:0000269|PubMed:29993276}.
• Sequence:

  MSLNNSSNVFLDSVPSNTNRFQVSVINENHESSAAADDNTDPPHYEETSFGDEAQKRLRI
  SFRPGNQECYDNFLQSGETAKTDASFHAYDSHTNTYYLQTFGHNTMDAVPKIEYYRNTGS
  ISGPKVNRPSLLEIHEQLAKNVAVTPSSADRVANGDGIPGDEQAENKEDDQAGVVKFGWV
  KGVLVRCMLNIWGVMLFIRLSWIVGEAGIGLGVLIILLSTMVTSITGLSTSAIATNGFVR
  GGGAYYLISRSLGPEFGGSIGLIFAFANAVAVAMYVVGFAETVVDLLKESDSMMVDPTND
  IRIIGSITVVILLGISVAGMEWEAKAQVILLVILLIAIANFFIGTVIPSNNEKKSRGFFN
  YQASIFAENFGPRFTKGEGFFSVFAIFFPAATGILAGANISGDLEDPQDAIPRGTMLAIF
  ITTVAYLGVAICVGACVVRDATGNMNDTIISGMNCNGSAACGLGYDFSRCRHEPCQYGLM
  NNFQVMSMVSGFGPLITAGIFSATLSSALASLVSAPKVFQALCKDNIYKALQFFAKGYGK
  NNEPLRGYILTFLIAMAFILIAELNTIAPIISNFFLASYALINFSCFHASYAKSPGWRPA
  YGIYNMWVSLFGAVLCCAVMFVINWWAAVITYVIEFFLYVYVTCKKPDVNWGSSTQALSY
  VSALDNALELTTVEDHVKNFRPQCIVLTGGPMTRPALLDITHAFTKNSGLCICCEVFVGP
  RKLCVKEMNSGMAKKQAWLIKNKIKAFYAAVAADCFRDGVRSLLQASGLGRMKPNTLVIG
  YKKNWRKAPLTEIENYVGIIHDAFDFEIGVVIVRISQGFDISQVLQVQEELERLEQERLA
  LEATIKDNECEEESGGIRGLFKKAGKLNITKTTPKKDGSINTSQSMHVGEFNQKLVEAST
  QFKKKQEKGTIDVWWLFDDGGLTLLIPYILTLRKKWKDCKLRIYVGGKINRIEEEKIVMA
  SLLSKFRIKFADIHIIGDINIRPNKESWKVFEEMIEPYRLHESCKDLTTAEKLKRETPWK
  ITDAELEAVKEKSYRQVRLNELLQEHSRAANLIVLSLPVARKGSISDLLYMAWLEILTKN
  LPPVLLVRGNHKNVLTFYS

• Sequence length: 1099

Pathways

Reactome:

Cation-coupled Chloride cotransporters
Defective SLC12A1 causes Bartter syndrome 1 (BS1)

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 disease type 1	Likely pathogenic; Pathogenic	rs2041650191, rs756057922, rs1597456179, rs1318795841, rs776749406, rs1370120380, rs773855120, rs1400209959, rs2141064916, rs1048935147, rs780619649, rs758166864, rs1366101480, rs758291275, rs770400317, rs765347751, rs137853158, rs137853159, rs774515747, rs1057519608, rs199877869, rs781230604, rs886039870, rs779588655, rs1479511052, rs1413414501, rs745334373, rs761459796, rs201696514, rs1273695811, rs1567311211, rs2505053163, rs2505087861, rs2505087791, rs1057520300, rs1057520301, rs1057520302, rs1057520303, rs1057520304, rs896545456, rs1555466999, rs1566857461, rs764247288, rs865973286, rs758961147	RCV001329192 RCV001535850 RCV005005233 RCV005395065 RCV001730161 RCV001775425 RCV001775431 RCV001784972 RCV001808289 RCV001837610 RCV001843848 RCV003225202 RCV005002930 RCV005002967 RCV003340526 RCV000779167 RCV000009296 RCV000009297 RCV000009298 RCV000009299 RCV005003019 RCV003225609 RCV000256371 RCV000256407 RCV005356468 RCV005003664 RCV005003672 RCV005013040 RCV005013079 RCV005003701 RCV005003729 RCV005871350 RCV003986049 RCV005006450 RCV000427573 RCV000420163 RCV000430820 RCV000438920 RCV000418206 RCV005624419 RCV005004319 RCV000761354 RCV004559830 RCV005012490 RCV002482169	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bartter syndrome	Likely pathogenic; Pathogenic	rs2041199779, rs1366101480, rs2042079691, rs770400317, rs199877869, rs2505190299, rs2505087791	RCV002469972 RCV004765639 RCV002510404 RCV003994449 RCV004765754 RCV003226665 RCV004586296	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrocalcinosis	Pathogenic; Likely pathogenic	rs779588655, rs896545456, rs1555466999	RCV000662326 RCV000662324 RCV000662325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Pathogenic; Likely pathogenic	rs779588655, rs896545456, rs1555466999	RCV000662326 RCV000662324 RCV000662325	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC12A1-related disorder	Pathogenic; Likely pathogenic	rs137853159, rs1380626543, rs2505225672, rs776346805	RCV003934814 RCV003400437 RCV003408738 RCV003393127	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANTENATAL BARTTER SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter disease type 3	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, ANTENATAL TYPE 1	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 1, ANTENATAL	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 3	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM OF EYE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hypokalemia-hypomagnesemia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GITELMAN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	26559081		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26559081		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	25165391, 28544176		★☆☆☆☆ Found in Text Mining only
Antenatal Bartter syndrome	Antenatal Bartter Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Disease	Bartter syndrome	CTD_human_DG	10561751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Disease	Bartter syndrome	BEFREE	11826289, 12589089, 12761241, 15980941, 16807401, 17998760, 18830715, 21071987, 21631963, 21865213, 22211456, 25631355, 26721884, 27748541, 28000888, 28095294, 30977917, 8640224, 9355073, 9502574, 9585600, 9690036, 9988141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Disease	Bartter syndrome	LHGDN	12761241, 16807401, 17998760		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Syndrome	Bartter syndrome	Pubtator	12472765, 12589089, 12911530, 15287206, 17998760, 21631963, 26963954, 28000888, 33607471, 35348259, 36305432, 37537162	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bartter syndrome antenatal type 1	Bartter syndrome	Pubtator	26963954	Associate	★☆☆☆☆ Found in Text Mining only
Bartter syndrome type 3	Bartter syndrome	Pubtator	19056867, 34461850, 36361553	Associate	★☆☆☆☆ Found in Text Mining only
Bartter syndrome, antenatal type 1	Bartter syndrome	CLINVAR_DG	12761241, 20219833, 28095294, 9585600		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, antenatal type 1	Bartter syndrome	GENOMICS_ENGLAND_DG	16807401, 8640224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, antenatal type 1	Bartter syndrome	BEFREE	17998760, 26963954		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, antenatal type 1	Bartter syndrome	ORPHANET_DG	17998760, 9585600		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, antenatal type 1	Bartter syndrome	UNIPROT_DG	8640224		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, antenatal type 1	Bartter syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, type 3	Bartter syndrome	BEFREE	11780689		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bloom Syndrome	Bloom syndrome	Pubtator	32506365	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	38003293	Associate	★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26831905, 27766950, 39348357	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	25165391	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	21360476		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	25157616	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30248303		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24944475	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	11509477		★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	18830715		★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman Syndrome	BEFREE	12911530		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gitelman Syndrome	Gitelman syndrome	Pubtator	32506365	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	24555568	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	7708696, 9325307, 9452509, 9837819	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	30840784		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	21071987		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	28095294		★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	BEFREE	28095294		★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism Neonatal Severe Primary	Hyperparathyroidism	Pubtator	26963954	Associate	★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism, Primary	Hyperparathyroidism	BEFREE	26963954		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	18391953, 30113482, 30248150	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	11509477, 11564973, 15167446, 18277153, 21553016, 22211456, 24185693, 25035152, 25228753, 27993957, 28614115, 30385718, 31172810, 31313674		★☆☆☆☆ Found in Text Mining only
Hypochloremia (disorder)	Hypochloremia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypokalemic alkalosis	Hypokalemia	BEFREE	21071987		★☆☆☆☆ Found in Text Mining only
Hypokalemic metabolic alkalosis	Hypokalemia	BEFREE	31165006		★☆☆☆☆ Found in Text Mining only
Hypokalemic metabolic alkalosis	Hypokalemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	30113482	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic hypercalciuria	Hypercalciuria	BEFREE	9519207		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23397215, 26721884		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	33095447, 36361553	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26606652		★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	BEFREE	11826289, 22211456		★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	27900370	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25165391		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	19096086, 28095294		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrocalcinosis	Nephrocalcinosis	CLINVAR_DG	28893421		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	28095294		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	CLINVAR_DG	28893421		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	Pubtator	28893421	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	9519207		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26721884		★☆☆☆☆ Found in Text Mining only
PSEUDOHYPOALDOSTERONISM, TYPE IID	Pseudohypoaldosteronism	BEFREE	29263298, 29412704		★☆☆☆☆ Found in Text Mining only
Renal hypertension	Renal Hypertension	BEFREE	31172810		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	27297950	Associate	★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	25157616		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24944475		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17052386	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Retention	Urinary retention	Pubtator	23387299	Associate	★☆☆☆☆ Found in Text Mining only
Wilms Tumor	Wilms tumor	Pubtator	37904849	Associate	★☆☆☆☆ Found in Text Mining only