CLCNKB (chloride voltage-gated channel Kb)

Gene

• Entrez ID: 1188
• Gene name: Chloride voltage-gated channel Kb
• Gene symbol: CLCNKB
• Synonyms (NCBI Gene): CLCKB, ClC-K2, ClC-Kb
• Chromosome: 1
• Chromosome location: 1p36.13
• Summary: The protein encoded by this gene is a member of the family of voltage-gated chloride channels. Chloride channels have several functions, including the regulation of cell volume, membrane potential stabilization, signal transduction and transepithelial tra

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121909131	C>G,T	Pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs121909132	G>A	Pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs121909133	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121909134	C>A	Pathogenic	Missense variant, coding sequence variant
rs121909135	T>C	Pathogenic	Missense variant, coding sequence variant
rs121909136	G>A	Pathogenic	Stop gained, coding sequence variant
rs201781905	C>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs370221310	C>T	Pathogenic	Coding sequence variant, stop gained
rs377215024	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs554794449	G>A,C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs751608665	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs755714542	G>A	Pathogenic	Coding sequence variant, missense variant
rs767271426	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs779593707	->AATA	Likely-pathogenic	Coding sequence variant, stop gained, inframe indel
rs779908241	A>C,G	Pathogenic	Splice acceptor variant
rs863224858	C>-	Likely-pathogenic	Coding sequence variant, stop gained
rs953686324	->G	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1057516207	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1057521154	G>T	Likely-pathogenic	Upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs1159737562	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1180658535	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1191726071	G>A,C	Pathogenic	Splice donor variant
rs1286624133	G>A	Pathogenic	Stop gained, coding sequence variant
rs1553127141	T>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1570334344	G>T	Pathogenic	Stop gained, coding sequence variant
rs1570340095	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1570341086	T>G	Pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT894895	hsa-miR-1292	CLIP-seq
MIRT894896	hsa-miR-216a	CLIP-seq
MIRT894897	hsa-miR-3145-5p	CLIP-seq
MIRT894898	hsa-miR-3192	CLIP-seq
MIRT894899	hsa-miR-4314	CLIP-seq
MIRT894900	hsa-miR-4471	CLIP-seq
MIRT894901	hsa-miR-4646-5p	CLIP-seq
MIRT894902	hsa-miR-508-5p	CLIP-seq
MIRT894903	hsa-miR-664	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005247	Function	Voltage-gated chloride channel activity	IBA
GO:0005247	Function	Voltage-gated chloride channel activity	IEA
GO:0005247	Function	Voltage-gated chloride channel activity	TAS	8041726
GO:0005254	Function	Chloride channel activity	IDA	12111250
GO:0005254	Function	Chloride channel activity	IEA
GO:0005515	Function	Protein binding	IPI	12111250
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	8041726
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006821	Process	Chloride transport	IBA
GO:0006821	Process	Chloride transport	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	18776122
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0030321	Process	Transepithelial chloride transport	TAS	8041726
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034707	Component	Chloride channel complex	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070293	Process	Renal absorption	IEA
GO:0070293	Process	Renal absorption	TAS	8041726
GO:0070294	Process	Renal sodium ion absorption	IMP	9326936
GO:1902476	Process	Chloride transmembrane transport	IEA

Other IDs

• MIM: 602023
• HGNC: 2027
• e!Ensembl: ENSG00000184908

Protein

• UniProt ID: P51801
• Protein name: Chloride channel protein ClC-Kb (Chloride channel Kb) (ClC-K2)
• Protein function: Anion-selective channel permeable to small monovalent anions with ion selectivity for chloride > bromide > nitrate > iodide (PubMed:11734858, PubMed:12111250). Forms a homodimeric channel where each subunit has its own ion conduction pathway. Ma
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00654	Voltage_CLC	102 → 514	Voltage gated chloride channel	Family
  PF00571	CBS	547 → 605	CBS domain	Domain

• Sequence:

  MEEFVGLREGSSGNPVTLQELWGPCPRIRRGIRGGLEWLKQKLFRLGEDWYFLMTLGVLM
  ALVSCAMDLAVESVVRAHQWLYREIGDSHLLRYLSWTVYPVALVSFSSGFSQSITPSSGG
  SGIPEVKTMLAGVVLEDYLDIKNFGAKVVGLSCTLACGSTLFLGKVGPFVHLSVMMAAYL
  GRVRTTTIGEPENKSKQNEMLVAAAAVGVATVFAAPFSGVLFSIEVMSSHFSVWDYWRGF
  FAATCGAFMFRLLAVFNSEQETITSLYKTSFRVDVPFDLPEIFFFVALGGLCGILGSAYL
  FCQRIFFGFIRNNRFSSKLLATSKPVYSALATLVLASITYPPSAGRFLASRLSMKQHLDS
  LFDNHSWALMTQNSSPPWPEELDPQHLWWEWYHPRFTIFGTLAFFLVMKFWMLILATTIP
  MPAGYFMPIFVYGAAIGRLFGETLSFIFPEGIVAGGITNPIMPGGYALAGAAAFSGAVTH
  TISTALLAFEVTGQIVHALPVLMAVLAANAIAQSCQPSFYDGTVIVKKLPYLPRILGRNI
  GSHRVRVEHFMNHSITTLAKDMPLEEVVKVVTSTDVAKYPLVESTESQILVGIVRRAQLV
  QALKAEPPSWAPGHQQCLQDILAAGCPTEPVTLKLSPETSLHEAHNLFELLNLHSLFVTS
  RGRAVGCVSWVEMKKAISNLTNPPAPK

• Sequence length: 687

Pathways

KEGG:

Collecting duct acid secretion

Reactome:

Stimuli-sensing channels

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant osteopetrosis 1	Likely pathogenic; Pathogenic	rs377215024	RCV003388600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bartter disease type 3	Likely pathogenic; Pathogenic	rs777305169, rs201204502, rs202064075, rs368504008, rs1557468189, rs201540273, rs863224858, rs121909131, rs121909132, rs121909133, rs121909134, rs121909135, rs779908241, rs121909136, rs767271426, rs2524386003, rs139909733, rs2524389961, rs2124102347, rs2524389129, rs1057516207, rs1553127141, rs370221310, rs779593707, rs953686324, rs1159737562, rs1570334344, rs201781905, rs377215024, rs755714542, rs1570340095, rs1570341086, rs1180658535, rs775637637, rs769163950, rs370985865	RCV001535929 RCV005040337 RCV002478007 RCV005050483 RCV002471697 RCV005045069 RCV000198263 RCV000008029 RCV000008030 RCV000008031 RCV000008032 RCV000008033 RCV000008035 RCV001536025 RCV002500748 RCV003324096 RCV005047675 RCV003988660 RCV004527527 RCV004577275 RCV000408763 RCV005869564 RCV000986258 RCV001197383 RCV000761590 RCV000791188 RCV000986252 RCV000986253 RCV000986254 RCV000986255 RCV000986256 RCV000986257 RCV001195134 RCV001196696 RCV001281172 RCV001849489	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bartter disease type 4B	Likely pathogenic; Pathogenic	rs777305169, rs201204502, rs202064075, rs368504008, rs201540273, rs863224858, rs121909132, rs121909133, rs779908241, rs121909136, rs767271426, rs139909733, rs370221310, rs953686324, rs1159737562, rs201781905, rs377215024, rs755714542, rs1180658535, rs775637637, rs769163950, rs370985865	RCV001535929 RCV005040337 RCV002478007 RCV005050483 RCV005045069 RCV002503789 RCV001535912 RCV005042013 RCV002504767 RCV001536025 RCV002500748 RCV005047675 RCV005049583 RCV002499284 RCV005047053 RCV002479152 RCV002505497 RCV001328286 RCV005047169 RCV002497678 RCV005050315 RCV002480867	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bartter syndrome	Pathogenic; Likely pathogenic	rs201540273, rs121909132, rs755714542, rs1180658535	RCV003317629 RCV006263622 RCV006269267 RCV004689946	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bartter syndrome, type 3, with hypocalciuria	Pathogenic	rs121909136, rs554794449	RCV000008037 RCV000008038	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS	Pathogenic	rs1191726071	RCV000008039	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy, familial focal, with variable foci 1	Pathogenic	rs370985865	RCV001251481	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hematuria	Likely pathogenic; Pathogenic	rs779593707	RCV000626588	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs201204502	RCV005922324	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Proteinuria	Likely pathogenic; Pathogenic	rs779593707	RCV000626588	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME TYPE 3	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME TYPE 4	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 4B	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	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
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GITELMAN SYNDROME	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Fanconi syndrome	Fanconi syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autosomal dominant hypocalcemia	Hypocalcemia	BEFREE	15056980		★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	CTD_human_DG	10561751		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Disease	Bartter syndrome	BEFREE	10831588, 11445802, 12574213, 12761627, 15056980, 15531551, 15717167, 15875219, 16391491, 17622951, 18310267, 18648499, 21479528, 21631963, 21865213, 23164417, 23703872, 23772144, 24058621, 24271511, 25810436, 26453302, 28288174, 28334417, 29254190, 30760291, 31409296, 31803959, 9326936, 9519207, 9690036, 9988141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Disease	Bartter syndrome	LHGDN	11865110, 12472765, 16902263, 17622951, 18094726		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Syndrome	Bartter syndrome	Pubtator	12472765, 12911530, 16902263, 21631963, 21937999, 28334417, 28555925, 29442545, 30760291, 31409296, 32624484, 32857947, 33827883, 35913199, 36305432, 38069401	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bartter syndrome type 3	Bartter syndrome	Pubtator	23345488, 24058621, 24965226, 26537508, 28288174, 28381550, 31409296, 33807568, 33827883, 35913199, 37612755	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, type 3	Bartter syndrome	BEFREE	10906158, 12472765, 12920401, 15148291, 16306206, 16391491, 16902263, 19050915, 19807735, 24271511, 25810436, 28555925, 28775266, 29442545, 31409296, 31834604, 9587066		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, type 3	Bartter syndrome	ORPHANET_DG	17622951, 24058621		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, type 3	Bartter syndrome	GENOMICS_ENGLAND_DG	23550235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, type 3	Bartter syndrome	UNIPROT_DG	9326936		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, type 3	Bartter syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter syndrome, type 3	Bartter syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Syndrome, Type 3, with Hypocalciuria	Bartter Syndrome With Hypocalciuria	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BARTTER SYNDROME, TYPE 4B	Bartter syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS	Bartter syndrome	GENOMICS_ENGLAND_DG	16391491, 18310267, 23550235		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS	Bartter Syndrome With Sensorineural Deafness	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Bloom Syndrome	Bloom syndrome	Pubtator	23345488, 32506365	Associate	★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of kidney and urinary tract	BEFREE	23164417		★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chondrocalcinosis	Chondrocalcinosis	Pubtator	33807568	Associate	★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	19050915		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	19050915		★☆☆☆☆ Found in Text Mining only
Classic Bartter syndrome	Bartter syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ 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
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ 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
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	35568702	Associate	★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	15148291, 15925743, 17997379, 19226700, 21644212, 22578033		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	19226700, 22578033, 25919862	Associate	★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	31409296		★☆☆☆☆ 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
Gitelman Syndrome	Gitelman Syndrome	BEFREE	12472765, 18287808, 20810575, 20931281, 23345488, 24830959, 27173320, 30999883, 31506066, 9988141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gitelman Syndrome	Gitelman syndrome	Pubtator	12472765, 21631963, 23345488, 26770037, 30999883, 32506365, 33807568, 34607911	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gitelman Syndrome	Gitelman Syndrome	ORPHANET_DG	18667063, 19265611, 20931281		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gitelman syndrome	Gitelman Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	31409296	Associate	★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	34607911	Associate	★☆☆☆☆ Found in Text Mining only
Gout	Gout	HPO_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hashimoto Disease	Hashimoto Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	38069401	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	38069401	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Atrial	Congenital heart septal defect	Pubtator	31409296	Associate	★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	29442545, 32624484	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercalciuria	Hypercalciuria	Pubtator	33807568	Associate	★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hypermagnesemia	Hypermagnesemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypernatriuria	Hypernatriuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	17652939, 19226700, 22578033, 28334417, 32624484	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	15148291, 17997379		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	16549283, 19226700, 28334417, 28775266, 31317362		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperuricemia	Hyperuricemia	Pubtator	33807568	Associate	★☆☆☆☆ Found in Text Mining only
Hypochloremia (disorder)	Hypochloremia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypokalemic alkalosis	Hypokalemia	BEFREE	9326936		★☆☆☆☆ Found in Text Mining only
Hypokalemic hypochloremic metabolic alkalosis	Hypokalemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypokalemic metabolic alkalosis	Hypokalemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Infantile Bartter syndrome with sensorineural deafness	Bartter Syndrome With Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Iron deficiency anemia	Iron deficiency anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	17185149		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	11053039, 18648499		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	19050915		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	19050915		★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	19096086, 9326936		★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	10831588		★☆☆☆☆ Found in Text Mining only
Nocturia	Nocturia	HPO_DG			★☆☆☆☆ 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
Raynaud Phenomenon	Raynaud Phenomenon	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	12574213, 15056980, 18310267		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	17185149		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only