Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	525
Gene name	ATPase H+ transporting V1 subunit B1
Gene symbol	ATP6V1B1
Synonyms (NCBI Gene)	ATP6B1DRTA2RTA1BVATBVMA2VPP3
Chromosome	2
Chromosome location	2p13.3
Summary	This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sort

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121964879	C>T	Pathogenic	Genic upstream transcript variant, stop gained, coding sequence variant
rs121964880	T>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121964881	G>A	Pathogenic	Coding sequence variant, missense variant
rs145536062	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs145735762	C>G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs527738649	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, missense variant
rs531239712	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs727504746	G>A	Pathogenic	Splice donor variant
rs781838938	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs781969081	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant
rs782138777	C>T	Pathogenic	Coding sequence variant, stop gained
rs782152033	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs782723581	G>A,T	Pathogenic	Splice donor variant
rs1064797052	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553419751	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553420702	G>C	Pathogenic	Splice donor variant
rs1572919267	G>C	Pathogenic	Splice acceptor variant
rs1572922954	G>C	Likely-pathogenic	Splice acceptor variant
rs1572924733	C>G	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all (38)

miRTarBase ID	miRNA	Experiments	Reference
MIRT568914	hsa-miR-1321	PAR-CLIP	20371350
MIRT568912	hsa-miR-4739	PAR-CLIP	20371350
MIRT568913	hsa-miR-4756-5p	PAR-CLIP	20371350
MIRT568911	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT568910	hsa-miR-4537	PAR-CLIP	20371350
MIRT568909	hsa-miR-4419a	PAR-CLIP	20371350
MIRT568908	hsa-miR-4510	PAR-CLIP	20371350
MIRT568907	hsa-miR-6127	PAR-CLIP	20371350
MIRT568906	hsa-miR-6129	PAR-CLIP	20371350
MIRT568905	hsa-miR-6130	PAR-CLIP	20371350
MIRT568904	hsa-miR-6133	PAR-CLIP	20371350
MIRT568903	hsa-miR-6827-5p	PAR-CLIP	20371350
MIRT568902	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT568901	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT568900	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT568899	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT568898	hsa-miR-3175	PAR-CLIP	20371350
MIRT568914	hsa-miR-1321	PAR-CLIP	20371350
MIRT568912	hsa-miR-4739	PAR-CLIP	20371350
MIRT568913	hsa-miR-4756-5p	PAR-CLIP	20371350
MIRT568911	hsa-miR-1247-3p	PAR-CLIP	20371350
MIRT568910	hsa-miR-4537	PAR-CLIP	20371350
MIRT568909	hsa-miR-4419a	PAR-CLIP	20371350
MIRT568908	hsa-miR-4510	PAR-CLIP	20371350
MIRT568907	hsa-miR-6127	PAR-CLIP	20371350
MIRT568906	hsa-miR-6129	PAR-CLIP	20371350
MIRT568905	hsa-miR-6130	PAR-CLIP	20371350
MIRT568904	hsa-miR-6133	PAR-CLIP	20371350
MIRT568903	hsa-miR-6827-5p	PAR-CLIP	20371350
MIRT568902	hsa-miR-149-3p	PAR-CLIP	20371350
MIRT568901	hsa-miR-4728-5p	PAR-CLIP	20371350
MIRT568900	hsa-miR-6785-5p	PAR-CLIP	20371350
MIRT568899	hsa-miR-6883-5p	PAR-CLIP	20371350
MIRT568898	hsa-miR-3175	PAR-CLIP	20371350
MIRT809088	hsa-miR-4264	CLIP-seq
MIRT809089	hsa-miR-4760-3p	CLIP-seq
MIRT809090	hsa-miR-4797-3p	CLIP-seq
MIRT809091	hsa-miR-935	CLIP-seq

Show/Hide all (56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000221	Component	Vacuolar proton-transporting V-type ATPase, V1 domain	IDA	33065002
GO:0000221	Component	Vacuolar proton-transporting V-type ATPase, V1 domain	IEA
GO:0001503	Process	Ossification	IMP	16433694
GO:0003091	Process	Renal water homeostasis	IEA
GO:0003096	Process	Renal sodium ion transport	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	14585495
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005902	Component	Microvillus	IEA
GO:0005902	Component	Microvillus	ISS	14585495
GO:0006693	Process	Prostaglandin metabolic process	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006885	Process	Regulation of pH	IEA
GO:0006885	Process	Regulation of pH	IMP	9916796
GO:0006885	Process	Regulation of pH	IMP	12414817
GO:0007035	Process	Vacuolar acidification	IBA
GO:0007605	Process	Sensory perception of sound	IMP	9916796
GO:0007605	Process	Sensory perception of sound	IMP	20622307
GO:0010468	Process	Regulation of gene expression	IEA
GO:0015078	Function	Proton transmembrane transporter activity	IEA
GO:0015078	Function	Proton transmembrane transporter activity	ISS	14585495
GO:0016020	Component	Membrane	IEA
GO:0016241	Process	Regulation of macroautophagy	NAS	22982048
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	ISS	14585495
GO:0016324	Component	Apical plasma membrane	IDA	16769747, 16928804, 29993276
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	ISS	14585495
GO:0016471	Component	Vacuolar proton-transporting V-type ATPase complex	IMP	12414817
GO:0030534	Process	Adult behavior	IEA
GO:0033180	Component	Proton-transporting V-type ATPase, V1 domain	IEA
GO:0035812	Process	Renal sodium excretion	IEA
GO:0042048	Process	Olfactory behavior	IEA
GO:0042472	Process	Inner ear morphogenesis	IMP	19639346
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045851	Process	PH reduction	IMP	16769747, 20622307
GO:0046034	Process	ATP metabolic process	IEA
GO:0046034	Process	ATP metabolic process	IEA
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IBA
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IEA
GO:0055064	Process	Chloride ion homeostasis	IEA
GO:0055074	Process	Calcium ion homeostasis	IMP	20622307
GO:0055075	Process	Potassium ion homeostasis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0070072	Process	Vacuolar proton-transporting V-type ATPase complex assembly	IMP	16769747
GO:0097254	Process	Renal tubular secretion	IMP	12414817
GO:0097401	Process	Synaptic vesicle lumen acidification	IEA
GO:0098850	Component	Extrinsic component of synaptic vesicle membrane	IEA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	IMP	12414817, 16769747

MIM	HGNC	e!Ensembl
192132	853	ENSG00000116039

P15313

Protein name

V-type proton ATPase subunit B, kidney isoform (V-ATPase subunit B 1) (Endomembrane proton pump 58 kDa subunit) (Vacuolar proton pump subunit B 1)

Protein function

Non-catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (PubMed:16769747). V-ATPase

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02874	ATP-synt_ab_N	44 → 110	ATP synthase alpha/beta family, beta-barrel domain	Domain
PF00006	ATP-synt_ab	167 → 393	ATP synthase alpha/beta family, nucleotide-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level) (PubMed:16769747, PubMed:29993276). Expressed in the cochlea and endolymphatic sac (PubMed:9916796). {ECO:00

Sequence

MAMEIDSRPGGLPGSSCNLGAAREHMQAVTRNYITHPRVTYRTVCSVNGPLVVLDRVKFA
QYAEIVHFTLPDGTQRSGQVLEVAGTKAIVQVFEGTSGIDARKTTCEFTGDILRTPVSED
MLGRVFNGSGKPIDKGPVVMAEDFLDINGQPINPHSRIYPEEMIQTGISPIDVMNSIARG
QKIPIFSAAGLPHNEIAAQICRQAGLVKKSKAVLDYHDDNFAIVFAAMGVNMETARFFKS
DFEQNGTMGNVCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDMSSYAEA
LREVSAAREEVPGRRGFPGYMYTDLATIYERAGRVEGRGGSITQIPILTMPNDDITHPIP
DLTGFITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHGDVSNQLYACY
AIGKDVQAMKAVVGEEALTSEDLLYLEFLQKFEKNFINQGPYENRSVFESLDLGWKLLRI
FPKEMLKRIPQAVIDEFYSREGALQDLAPDTAL

Sequence length

513

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Phagosome mTOR signaling pathway Synaptic vesicle cycle Collecting duct acid secretion Vibrio cholerae infection Epithelial cell signaling in Helicobacter pylori infection Human papillomavirus infection Rheumatoid arthritis		ROS and RNS production in phagocytes Insulin receptor recycling Transferrin endocytosis and recycling Amino acids regulate mTORC1 Ion channel transport

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)

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the genitourinary system	Likely pathogenic	rs2104827591	RCV001814505	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATP6V1B1-related disorder	Likely pathogenic; Pathogenic	rs1680488861, rs781969081, rs1572919267	RCV003408066 RCV003411471 RCV003413587	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal renal tubular acidosis	Pathogenic; Likely pathogenic	rs781838938, rs121964880, rs782152033	RCV001849357 RCV001849262 RCV001849427	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic; Pathogenic	rs121964881	RCV005887475	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Likely pathogenic	rs1363121734	RCV005935043	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrocalcinosis	Likely pathogenic; Pathogenic	rs121964880, rs1572919267	RCV000662318 RCV000852376	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Likely pathogenic; Pathogenic	rs121964880	RCV000662318	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs121964881	RCV005887476	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Polydactyly, postaxial, type A1	Pathogenic	rs1572919267	RCV000852376	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Pathogenic	rs727504746	RCV000156046	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubular acidosis	Pathogenic	rs1288346981	RCV001328240	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubular acidosis with progressive nerve deafness	Pathogenic; Likely pathogenic	rs2104834712, rs1553415274, rs2104831698, rs2104834809, rs782484337, rs1680488861, rs1558681020, rs782151715, rs2104834299, rs1679840748, rs2104825177, rs1553416787, rs727504746, rs2466301518, rs2466285143 View all (28 more)	RCV002504641 RCV001785889 RCV001801011 RCV001843327 RCV001843691 View all (40 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	Likely pathogenic	rs2466287299	RCV004763657	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Renal tubulopathies	Pathogenic	rs782152033	RCV006252567	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE DISTAL RENAL TUBULAR ACIDOSIS	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROGENITAL ABNORMALITIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autosomal recessive distal renal tubular acidosis	Renal Tubular Acidosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	33000417	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	36999629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	12414817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Renal Tubular Acidosis	Distal Renal Tubular Acidosis	BEFREE	11160790, 12384298, 12500243, 12579397, 17216496, 17669226, 18386070, 19639346, 20233014, 20805693, 23114896, 23729491, 23923981, 24252324, 25498251 View all (12 more)		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal Renal Tubular Acidosis	Distal Renal Tubular Acidosis	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11045400, 16611712, 16769747, 23729491, 23923981, 27247958, 28188436, 7499943, 9916796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	28188436	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	30230413, 38445406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	12414817, 20622307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	10577919, 19478356, 20622307, 23923981, 24252324, 24975934, 28188436, 29627839, 30558562, 38445406	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	18712525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35711425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Calculi	Kidney stone	BEFREE	28994037, 29843146		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	26208211, 36408280	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11045400, 16611712, 16769747, 23729491, 23923981, 27247958, 28188436, 7499943, 9916796		★★★★★ ★☆☆☆☆ 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
Nephrocalcinosis	Nephrocalcinosis	BEFREE	21849803, 28994037, 29202719		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrocalcinosis	Nephrocalcinosis	CLINVAR_DG	28893421		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	CLINVAR_DG	28893421		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	Pubtator	28893421	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	BEFREE	28994037, 29843146		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nephrolithiasis	Nephrolithiasis	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteopetrosis	Osteopetrosis	BEFREE	12566520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopetrosis	Osteopetrosis	Pubtator	12566520	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36999629	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal tubular acidosis distal autosomal recessive	Distal renal tubular acidosis	Pubtator	12414817	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	Renal Tubular Acidosis	BEFREE	12414817, 12500243, 20622307, 23729491, 26453614, 29202719		★★★★★ ★☆☆☆☆ Found in Text Mining only
RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE	Renal Tubular Acidosis	ORPHANET_DG	23729491		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness	Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness	UNIPROT_DG	12414817, 12579397, 9916796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness	Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness	CLINVAR_DG	18798332, 28233610		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness	Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness	CLINGEN_DG	28934385, 9916796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness	Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness	GENOMICS_ENGLAND_DG	9916796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness	Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	10577919, 11160790, 12500243, 16433694, 17669226, 19639346, 20622307, 20805693, 22509993, 23114896, 23923981, 24252324, 24975934, 25517796, 26068435 View all (6 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

ATP6V1B1 (ATPase H+ transporting V1 subunit B1)