BSND (barttin CLCNK type accessory subunit beta)

Gene

• Entrez ID: 7809
• Gene name: Barttin CLCNK type accessory subunit beta
• Gene symbol: BSND
• Synonyms (NCBI Gene): BART, DFNB73
• Chromosome: 1
• Chromosome location: 1p32.3
• Summary: This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Ba

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315284	A>T	Pathogenic	Missense variant, initiator codon variant
rs74315285	C>T	Pathogenic	Missense variant, coding sequence variant
rs74315286	G>A	Likely-pathogenic	Missense variant, initiator codon variant
rs74315287	G>A	Pathogenic	Missense variant, coding sequence variant
rs74315288	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs74315289	G>A	Pathogenic	Missense variant, coding sequence variant
rs121908144	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121908145	G>A,C,T	Uncertain-significance, pathogenic	Stop gained, missense variant, coding sequence variant
rs141403253	C>T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143711308	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147394986	C>T	Conflicting-interpretations-of-pathogenicity	Stop gained, coding sequence variant
rs150426464	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201342416	A>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs754819005	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs765135576	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs771232166	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT669337	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT722313	hsa-miR-1295a	HITS-CLIP	19536157
MIRT619071	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT619070	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT619069	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT619068	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT619067	hsa-miR-3120-5p	HITS-CLIP	19536157
MIRT619066	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT619065	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT619064	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT619063	hsa-miR-6888-3p	HITS-CLIP	19536157
MIRT619062	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT669339	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT669338	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT669337	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT669336	hsa-miR-2114-3p	HITS-CLIP	23824327
MIRT669335	hsa-miR-6823-3p	HITS-CLIP	23824327
MIRT669333	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT669334	hsa-miR-7977	HITS-CLIP	23824327
MIRT669332	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT669331	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT669330	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT669329	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT669328	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT619071	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619070	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT619069	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619068	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619067	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619066	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619065	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619064	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619063	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT619062	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT669337	hsa-miR-6849-3p	PAR-CLIP	27292025
MIRT669337	hsa-miR-6849-3p	HITS-CLIP	19536157
MIRT722313	hsa-miR-1295a	HITS-CLIP	19536157
MIRT619071	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT619070	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT619069	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT619068	hsa-miR-6817-3p	HITS-CLIP	19536157
MIRT619067	hsa-miR-3120-5p	HITS-CLIP	19536157
MIRT619066	hsa-miR-6895-3p	HITS-CLIP	19536157
MIRT619065	hsa-miR-593-3p	HITS-CLIP	19536157
MIRT619064	hsa-miR-6873-3p	HITS-CLIP	19536157
MIRT619063	hsa-miR-6888-3p	HITS-CLIP	19536157
MIRT619062	hsa-miR-6818-3p	HITS-CLIP	19536157
MIRT669339	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT669338	hsa-miR-6501-3p	HITS-CLIP	23824327
MIRT669337	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT669336	hsa-miR-2114-3p	HITS-CLIP	23824327
MIRT669335	hsa-miR-6823-3p	HITS-CLIP	23824327
MIRT669333	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT669334	hsa-miR-7977	HITS-CLIP	23824327
MIRT669332	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT669331	hsa-miR-4713-5p	HITS-CLIP	23824327
MIRT669330	hsa-miR-6867-3p	HITS-CLIP	23824327
MIRT669329	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT669328	hsa-miR-629-3p	HITS-CLIP	23824327
MIRT619071	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT619070	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT619069	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT619068	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT619067	hsa-miR-3120-5p	HITS-CLIP	23824327
MIRT619066	hsa-miR-6895-3p	HITS-CLIP	23824327
MIRT619065	hsa-miR-593-3p	HITS-CLIP	23824327
MIRT619064	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT619063	hsa-miR-6888-3p	HITS-CLIP	23824327
MIRT619062	hsa-miR-6818-3p	HITS-CLIP	23824327
MIRT826133	hsa-miR-15a	CLIP-seq
MIRT826134	hsa-miR-15b	CLIP-seq
MIRT826135	hsa-miR-16	CLIP-seq
MIRT826136	hsa-miR-195	CLIP-seq
MIRT826137	hsa-miR-214	CLIP-seq
MIRT826138	hsa-miR-3180-5p	CLIP-seq
MIRT826139	hsa-miR-3619-5p	CLIP-seq
MIRT826140	hsa-miR-424	CLIP-seq
MIRT826141	hsa-miR-4291	CLIP-seq
MIRT826142	hsa-miR-497	CLIP-seq
MIRT826143	hsa-miR-520a-5p	CLIP-seq
MIRT826144	hsa-miR-525-5p	CLIP-seq
MIRT826145	hsa-miR-761	CLIP-seq
MIRT826146	hsa-miR-922	CLIP-seq
MIRT2384891	hsa-miR-3678-3p	CLIP-seq
MIRT2384892	hsa-miR-450b-5p	CLIP-seq
MIRT2384893	hsa-miR-507	CLIP-seq
MIRT2384894	hsa-miR-557	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005254	Function	Chloride channel activity	IEA
GO:0005254	Function	Chloride channel activity	ISS
GO:0005515	Function	Protein binding	IPI	12111250, 32296183, 32814053
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006821	Process	Chloride transport	IBA
GO:0006821	Process	Chloride transport	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0016323	Component	Basolateral plasma membrane	IDA	18776122
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0017081	Function	Chloride channel regulator activity	IBA
GO:0017081	Function	Chloride channel regulator activity	IDA	12111250
GO:0017081	Function	Chloride channel regulator activity	IEA
GO:0017081	Function	Chloride channel regulator activity	IMP	18776122
GO:0032991	Component	Protein-containing complex	IEA
GO:0032991	Component	Protein-containing complex	ISS
GO:1902476	Process	Chloride transmembrane transport	IEA

Other IDs

• MIM: 606412
• HGNC: 16512
• e!Ensembl: ENSG00000162399

Protein

• UniProt ID: Q8WZ55
• Protein name: Barttin
• Protein function: Regulatory subunit of anion-selective CLCNKA:BSND and CLCNKB:BSND heteromeric channels involved in basolateral chloride conductance along the nephron to achieve urine concentration and maintain systemic acid-base homeostasis, and in the stria va
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15462	Barttin	27 → 251	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed primarily in kidney. Expressed in specific nephron segments and in the stria vascularis of the inner ear. {ECO:0000269|PubMed:11687798}.
• Sequence:

  MADEKTFRIGFIVLGLFLLALGTFLMSHDRPQVYGTFYAMGSVMVIGGIIWSMCQCYPKI
  TFVPADSDFQGILSPKAMGLLENGLAAEMKSPSPQPPYVRLWEEAAYDQSLPDFSHIQMK
  VMSYSEDHRSLLAPEMGQPKLGTSDGGEGGPGDVQAWMEAAVVIHKGSDESEGERRLTQS
  WPGPLACPQGPAPLASFQDDLDMDSSEGSSPNASPHDREEACSPQQEPQGCRCPLDRFQD
  FALIDAPTLEDEPQEGQQWEIALPNNWQRYPRTKVEEKEASDTGGEEPEKEEEDLYYGLP
  DGAGDLLPDKELGFEPDTQG

• Sequence length: 320

Pathways

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
Bartter disease type 4A	Likely pathogenic; Pathogenic	rs754523289, rs74315284, rs74315285, rs1389952796, rs74315286, rs74315287, rs74315288, rs74315289, rs121908144, rs121908145, rs771232166, rs1007109925	RCV001780690 RCV000004630 RCV000004631 RCV000004632 RCV000004634 RCV000004635 RCV000004636 RCV000004637 RCV000785598 RCV002496257 RCV002485970 RCV002481868	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bartter syndrome	Likely pathogenic; Pathogenic	rs754523289, rs74315285, rs74315286, rs74315287, rs74315289, rs121908144, rs1301110174, rs1007109925	RCV001844412 RCV001273324 RCV001272340 RCV002271365 RCV001826415 RCV002281695 RCV005609035 RCV001827233	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bartter syndrome type 4	Likely pathogenic; Pathogenic	rs74315289	RCV005357074	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
BSND-related disorder	Likely pathogenic; Pathogenic	rs74315289	RCV003934797	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Pathogenic	rs121908145	RCV001375195	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive	Likely pathogenic; Pathogenic	rs74315289, rs121908144	RCV004719032 RCV001291206	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural deafness with mild renal dysfunction	Pathogenic	rs121908144, rs121908145	RCV000004638 RCV000004639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 4A	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEASONAL ALLERGIC RHINITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Allergic rhinitis (disorder)	Allergic rhinitis	GWASCAT_DG	25085501		★☆☆☆☆ Found in Text Mining only
Autosomal dominant hypocalcemia	Hypocalcemia	BEFREE	15056980		★☆☆☆☆ Found in Text Mining only
Autosomal recessive non-syndromic sensorineural deafness type DFNB	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	BEFREE	11687798, 12761627, 12920401, 15056980, 15980941, 16328537, 16572343, 16583241, 18310267, 18776122, 18843510, 19646679, 21158220, 21269598, 21865213, 23110775, 26013830, 28012523, 29674316, 30174009, 30405442, 31177533, 31362893		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Disease	Bartter syndrome	LHGDN	12761627, 16572343, 16773427, 18094726, 18776122		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Disease	Bartter syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Syndrome	Bartter syndrome	Pubtator	15167890, 16583241, 19646679, 28334417	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bartter syndrome type 3	Bartter syndrome	Pubtator	16583241, 19646679, 21541222, 26537508, 29674316	Associate	★☆☆☆☆ Found in Text Mining only
BARTTER SYNDROME, TYPE 4A	Bartter syndrome	GENOMICS_ENGLAND_DG	11687798, 27234911, 9463315		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 4A	Bartter syndrome	CLINGEN_DG	11687798, 11734858, 12111250, 12574213, 16583241, 18776122, 18833191, 23110775		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 4A	Bartter syndrome	CLINVAR_DG	11687798, 11734858, 12574213, 16328537, 16572343, 16583241, 16935888, 18776122, 19096086, 21269598, 24902942, 26537508		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 4A	Bartter syndrome	UNIPROT_DG	11687798, 12111250, 12574213, 12761627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 4A	Bartter syndrome	BEFREE	16572343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARTTER SYNDROME, TYPE 4A	Bartter syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	28259048		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26091477, 28470573	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30827132		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	BEFREE	28470573		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	21269598		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28470573		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	30827132		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30827132		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	30827132		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	15167890, 19646679, 21541222, 24949729	Associate	★☆☆☆☆ Found in Text Mining only
Dent disease 1	Dent`s Disease	BEFREE	30405442		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	17954364, 19226700		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	30360666		★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	16583241, 29674316	Associate	★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	28470573		★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	30174009		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypernatriuria	Hypernatriuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	17652939	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	17954364, 29326302, 31317362		★☆☆☆☆ Found in Text Mining only
Hypochloremia (disorder)	Hypochloremia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypokalemic hypochloremic 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
Kidney Diseases	Kidney disease	Pubtator	19646679, 21541222	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	11687798, 19646679, 23110775		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	21269598		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	28470573	Associate	★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	30827132		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	26013830		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21833473, 22532868, 22745590		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25590614, 26909566, 29230817, 31606205		★☆☆☆☆ Found in Text Mining only
Metabolic alkalosis	Metabolic alkalosis	BEFREE	31362893		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	28470573		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	17911266, 19091858, 19144710, 22102884, 22431062, 24161012, 24289555, 24532457, 25691053, 26135619, 26909566, 27179594, 28243335, 28515295, 29617291, 29971780, 30548946, 30684592, 31606205		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17079300, 19091858, 21901094, 25590614, 25691053, 26694854, 28259048, 28470573, 28542273		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	19096086		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	29617291		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	19646679		★☆☆☆☆ Found in Text Mining only
Oxyphilic Adenoma	Oxyphilic Adenoma	BEFREE	28470573		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21833473, 22532868, 22745590		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28470573		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	21269598		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	28470573	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Deafness With Mild Renal Dysfunction	Sensorineural Deafness With Mild Renal Dysfunction	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	11687798, 12920401, 15056980, 16328537, 16583241, 18310267, 18843510, 28012523, 29674316, 29986705, 30174009		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	21880309		★☆☆☆☆ Found in Text Mining only