Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	51382
Gene name	ATPase H+ transporting V1 subunit D
Gene symbol	ATP6V1D
Synonyms (NCBI Gene)	ATP6MVATDVMA8
Chromosome	14
Chromosome location	14q23.3
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

292 Show/Hide all (292)

miRTarBase ID	miRNA	Experiments
MIRT809314	hsa-miR-106a	CLIP-seq
MIRT809315	hsa-miR-106b	CLIP-seq
MIRT809316	hsa-miR-1257	CLIP-seq
MIRT809317	hsa-miR-17	CLIP-seq
MIRT809318	hsa-miR-20a	CLIP-seq
MIRT809319	hsa-miR-20b	CLIP-seq
MIRT809320	hsa-miR-3064-5p	CLIP-seq
MIRT809321	hsa-miR-3117-5p	CLIP-seq
MIRT809322	hsa-miR-3132	CLIP-seq
MIRT809323	hsa-miR-3200-5p	CLIP-seq
MIRT809324	hsa-miR-329	CLIP-seq
MIRT809325	hsa-miR-362-3p	CLIP-seq
MIRT809326	hsa-miR-3665	CLIP-seq
MIRT809327	hsa-miR-3914	CLIP-seq
MIRT809328	hsa-miR-3941	CLIP-seq
MIRT809329	hsa-miR-4303	CLIP-seq
MIRT809330	hsa-miR-4464	CLIP-seq
MIRT809331	hsa-miR-450b-5p	CLIP-seq
MIRT809332	hsa-miR-4708-3p	CLIP-seq
MIRT809333	hsa-miR-4748	CLIP-seq
MIRT809334	hsa-miR-4753-3p	CLIP-seq
MIRT809335	hsa-miR-5096	CLIP-seq
MIRT809336	hsa-miR-519a	CLIP-seq
MIRT809337	hsa-miR-519b-3p	CLIP-seq
MIRT809338	hsa-miR-519c-3p	CLIP-seq
MIRT809339	hsa-miR-519d	CLIP-seq
MIRT809340	hsa-miR-548t	CLIP-seq
MIRT809341	hsa-miR-603	CLIP-seq
MIRT809342	hsa-miR-649	CLIP-seq
MIRT809343	hsa-miR-657	CLIP-seq
MIRT809344	hsa-miR-873	CLIP-seq
MIRT809345	hsa-miR-93	CLIP-seq
MIRT1939110	hsa-miR-194	CLIP-seq
MIRT1939111	hsa-miR-2276	CLIP-seq
MIRT1939112	hsa-miR-4495	CLIP-seq
MIRT1939113	hsa-miR-4694-3p	CLIP-seq
MIRT1939114	hsa-miR-4719	CLIP-seq
MIRT1939115	hsa-miR-4772-3p	CLIP-seq
MIRT1939116	hsa-miR-518a-5p	CLIP-seq
MIRT1939117	hsa-miR-522	CLIP-seq
MIRT1939118	hsa-miR-527	CLIP-seq
MIRT1939119	hsa-miR-544	CLIP-seq
MIRT2178221	hsa-miR-140-3p	CLIP-seq
MIRT2178222	hsa-miR-146a	CLIP-seq
MIRT2178223	hsa-miR-146b-5p	CLIP-seq
MIRT809321	hsa-miR-3117-5p	CLIP-seq
MIRT809322	hsa-miR-3132	CLIP-seq
MIRT2178224	hsa-miR-3144-3p	CLIP-seq
MIRT809323	hsa-miR-3200-5p	CLIP-seq
MIRT809324	hsa-miR-329	CLIP-seq
MIRT809325	hsa-miR-362-3p	CLIP-seq
MIRT809327	hsa-miR-3914	CLIP-seq
MIRT809328	hsa-miR-3941	CLIP-seq
MIRT809329	hsa-miR-4303	CLIP-seq
MIRT809330	hsa-miR-4464	CLIP-seq
MIRT809331	hsa-miR-450b-5p	CLIP-seq
MIRT1939114	hsa-miR-4719	CLIP-seq
MIRT809333	hsa-miR-4748	CLIP-seq
MIRT2178225	hsa-miR-589	CLIP-seq
MIRT809341	hsa-miR-603	CLIP-seq
MIRT809342	hsa-miR-649	CLIP-seq
MIRT809344	hsa-miR-873	CLIP-seq
MIRT1939113	hsa-miR-4694-3p	CLIP-seq
MIRT1939117	hsa-miR-522	CLIP-seq
MIRT2481999	hsa-miR-103a	CLIP-seq
MIRT809314	hsa-miR-106a	CLIP-seq
MIRT809315	hsa-miR-106b	CLIP-seq
MIRT2482000	hsa-miR-107	CLIP-seq
MIRT2482001	hsa-miR-1184	CLIP-seq
MIRT2482002	hsa-miR-1205	CLIP-seq
MIRT2482003	hsa-miR-1253	CLIP-seq
MIRT2482004	hsa-miR-1285	CLIP-seq
MIRT2482005	hsa-miR-132	CLIP-seq
MIRT2482006	hsa-miR-1324	CLIP-seq
MIRT2482007	hsa-miR-1343	CLIP-seq
MIRT2178221	hsa-miR-140-3p	CLIP-seq
MIRT2178222	hsa-miR-146a	CLIP-seq
MIRT2178223	hsa-miR-146b-5p	CLIP-seq
MIRT2482008	hsa-miR-149	CLIP-seq
MIRT2482009	hsa-miR-155	CLIP-seq
MIRT809317	hsa-miR-17	CLIP-seq
MIRT2482010	hsa-miR-191	CLIP-seq
MIRT1939110	hsa-miR-194	CLIP-seq
MIRT2482011	hsa-miR-202	CLIP-seq
MIRT809318	hsa-miR-20a	CLIP-seq
MIRT809319	hsa-miR-20b	CLIP-seq
MIRT2482012	hsa-miR-2115	CLIP-seq
MIRT2482013	hsa-miR-212	CLIP-seq
MIRT2482014	hsa-miR-216a	CLIP-seq
MIRT1939111	hsa-miR-2276	CLIP-seq
MIRT2482015	hsa-miR-2467-3p	CLIP-seq
MIRT809320	hsa-miR-3064-5p	CLIP-seq
MIRT809321	hsa-miR-3117-5p	CLIP-seq
MIRT809322	hsa-miR-3132	CLIP-seq
MIRT2178224	hsa-miR-3144-3p	CLIP-seq
MIRT2482016	hsa-miR-3158-5p	CLIP-seq
MIRT2482017	hsa-miR-3187-5p	CLIP-seq
MIRT809323	hsa-miR-3200-5p	CLIP-seq
MIRT2482018	hsa-miR-320a	CLIP-seq
MIRT2482019	hsa-miR-320b	CLIP-seq
MIRT2482020	hsa-miR-320c	CLIP-seq
MIRT2482021	hsa-miR-320d	CLIP-seq
MIRT2482022	hsa-miR-346	CLIP-seq
MIRT2482023	hsa-miR-3607-3p	CLIP-seq
MIRT809326	hsa-miR-3665	CLIP-seq
MIRT2482024	hsa-miR-3678-3p	CLIP-seq
MIRT2482025	hsa-miR-3685	CLIP-seq
MIRT2482026	hsa-miR-3686	CLIP-seq
MIRT2482027	hsa-miR-384	CLIP-seq
MIRT809327	hsa-miR-3914	CLIP-seq
MIRT2482028	hsa-miR-3919	CLIP-seq
MIRT2482029	hsa-miR-3973	CLIP-seq
MIRT2482030	hsa-miR-4288	CLIP-seq
MIRT809329	hsa-miR-4303	CLIP-seq
MIRT2482031	hsa-miR-4330	CLIP-seq
MIRT2482032	hsa-miR-4429	CLIP-seq
MIRT809330	hsa-miR-4464	CLIP-seq
MIRT1939112	hsa-miR-4495	CLIP-seq
MIRT809331	hsa-miR-450b-5p	CLIP-seq
MIRT2482033	hsa-miR-4517	CLIP-seq
MIRT2482034	hsa-miR-452	CLIP-seq
MIRT2482035	hsa-miR-4676-3p	CLIP-seq
MIRT2482036	hsa-miR-4678	CLIP-seq
MIRT2482037	hsa-miR-4693-5p	CLIP-seq
MIRT1939113	hsa-miR-4694-3p	CLIP-seq
MIRT809332	hsa-miR-4708-3p	CLIP-seq
MIRT1939114	hsa-miR-4719	CLIP-seq
MIRT2482038	hsa-miR-4736	CLIP-seq
MIRT809333	hsa-miR-4748	CLIP-seq
MIRT809334	hsa-miR-4753-3p	CLIP-seq
MIRT1939115	hsa-miR-4772-3p	CLIP-seq
MIRT2482039	hsa-miR-4778-5p	CLIP-seq
MIRT2482040	hsa-miR-4786-5p	CLIP-seq
MIRT2482041	hsa-miR-4794	CLIP-seq
MIRT809335	hsa-miR-5096	CLIP-seq
MIRT2482042	hsa-miR-513b	CLIP-seq
MIRT2482043	hsa-miR-516a-3p	CLIP-seq
MIRT1939116	hsa-miR-518a-5p	CLIP-seq
MIRT809336	hsa-miR-519a	CLIP-seq
MIRT809337	hsa-miR-519b-3p	CLIP-seq
MIRT809338	hsa-miR-519c-3p	CLIP-seq
MIRT809339	hsa-miR-519d	CLIP-seq
MIRT1939117	hsa-miR-522	CLIP-seq
MIRT1939118	hsa-miR-527	CLIP-seq
MIRT1939119	hsa-miR-544	CLIP-seq
MIRT2482044	hsa-miR-548a-5p	CLIP-seq
MIRT2482045	hsa-miR-548ab	CLIP-seq
MIRT2482046	hsa-miR-548ac	CLIP-seq
MIRT2482047	hsa-miR-548ae	CLIP-seq
MIRT2482048	hsa-miR-548aj	CLIP-seq
MIRT2482049	hsa-miR-548ak	CLIP-seq
MIRT2482050	hsa-miR-548am	CLIP-seq
MIRT2482051	hsa-miR-548b-5p	CLIP-seq
MIRT2482052	hsa-miR-548c-5p	CLIP-seq
MIRT2482053	hsa-miR-548d-3p	CLIP-seq
MIRT2482054	hsa-miR-548d-5p	CLIP-seq
MIRT2482055	hsa-miR-548h	CLIP-seq
MIRT2482056	hsa-miR-548i	CLIP-seq
MIRT2482057	hsa-miR-548j	CLIP-seq
MIRT809340	hsa-miR-548t	CLIP-seq
MIRT2482058	hsa-miR-548w	CLIP-seq
MIRT2482059	hsa-miR-548x	CLIP-seq
MIRT2482060	hsa-miR-548y	CLIP-seq
MIRT2482061	hsa-miR-548z	CLIP-seq
MIRT2482062	hsa-miR-559	CLIP-seq
MIRT2482063	hsa-miR-561	CLIP-seq
MIRT2482064	hsa-miR-580	CLIP-seq
MIRT2178225	hsa-miR-589	CLIP-seq
MIRT2482065	hsa-miR-604	CLIP-seq
MIRT2482066	hsa-miR-612	CLIP-seq
MIRT2482067	hsa-miR-632	CLIP-seq
MIRT2482068	hsa-miR-647	CLIP-seq
MIRT809342	hsa-miR-649	CLIP-seq
MIRT2482069	hsa-miR-654-3p	CLIP-seq
MIRT809343	hsa-miR-657	CLIP-seq
MIRT2482070	hsa-miR-769-5p	CLIP-seq
MIRT809344	hsa-miR-873	CLIP-seq
MIRT809345	hsa-miR-93	CLIP-seq
MIRT2481999	hsa-miR-103a	CLIP-seq
MIRT809314	hsa-miR-106a	CLIP-seq
MIRT809315	hsa-miR-106b	CLIP-seq
MIRT2482000	hsa-miR-107	CLIP-seq
MIRT2482001	hsa-miR-1184	CLIP-seq
MIRT2482002	hsa-miR-1205	CLIP-seq
MIRT2482003	hsa-miR-1253	CLIP-seq
MIRT2482004	hsa-miR-1285	CLIP-seq
MIRT2482005	hsa-miR-132	CLIP-seq
MIRT2482006	hsa-miR-1324	CLIP-seq
MIRT2482007	hsa-miR-1343	CLIP-seq
MIRT2178221	hsa-miR-140-3p	CLIP-seq
MIRT2178222	hsa-miR-146a	CLIP-seq
MIRT2178223	hsa-miR-146b-5p	CLIP-seq
MIRT2482008	hsa-miR-149	CLIP-seq
MIRT2482009	hsa-miR-155	CLIP-seq
MIRT809317	hsa-miR-17	CLIP-seq
MIRT2482010	hsa-miR-191	CLIP-seq
MIRT1939110	hsa-miR-194	CLIP-seq
MIRT2482011	hsa-miR-202	CLIP-seq
MIRT809318	hsa-miR-20a	CLIP-seq
MIRT809319	hsa-miR-20b	CLIP-seq
MIRT2482012	hsa-miR-2115	CLIP-seq
MIRT2482013	hsa-miR-212	CLIP-seq
MIRT2482014	hsa-miR-216a	CLIP-seq
MIRT1939111	hsa-miR-2276	CLIP-seq
MIRT2482015	hsa-miR-2467-3p	CLIP-seq
MIRT809320	hsa-miR-3064-5p	CLIP-seq
MIRT809321	hsa-miR-3117-5p	CLIP-seq
MIRT809322	hsa-miR-3132	CLIP-seq
MIRT2178224	hsa-miR-3144-3p	CLIP-seq
MIRT2482016	hsa-miR-3158-5p	CLIP-seq
MIRT2482017	hsa-miR-3187-5p	CLIP-seq
MIRT809323	hsa-miR-3200-5p	CLIP-seq
MIRT2482018	hsa-miR-320a	CLIP-seq
MIRT2482019	hsa-miR-320b	CLIP-seq
MIRT2482020	hsa-miR-320c	CLIP-seq
MIRT2482021	hsa-miR-320d	CLIP-seq
MIRT2482022	hsa-miR-346	CLIP-seq
MIRT2482023	hsa-miR-3607-3p	CLIP-seq
MIRT809326	hsa-miR-3665	CLIP-seq
MIRT2482024	hsa-miR-3678-3p	CLIP-seq
MIRT2482025	hsa-miR-3685	CLIP-seq
MIRT2482026	hsa-miR-3686	CLIP-seq
MIRT2482027	hsa-miR-384	CLIP-seq
MIRT809327	hsa-miR-3914	CLIP-seq
MIRT2482028	hsa-miR-3919	CLIP-seq
MIRT2482029	hsa-miR-3973	CLIP-seq
MIRT2482030	hsa-miR-4288	CLIP-seq
MIRT809329	hsa-miR-4303	CLIP-seq
MIRT2482031	hsa-miR-4330	CLIP-seq
MIRT2482032	hsa-miR-4429	CLIP-seq
MIRT809330	hsa-miR-4464	CLIP-seq
MIRT1939112	hsa-miR-4495	CLIP-seq
MIRT809331	hsa-miR-450b-5p	CLIP-seq
MIRT2482033	hsa-miR-4517	CLIP-seq
MIRT2482034	hsa-miR-452	CLIP-seq
MIRT2482035	hsa-miR-4676-3p	CLIP-seq
MIRT2482036	hsa-miR-4678	CLIP-seq
MIRT2482037	hsa-miR-4693-5p	CLIP-seq
MIRT1939113	hsa-miR-4694-3p	CLIP-seq
MIRT809332	hsa-miR-4708-3p	CLIP-seq
MIRT1939114	hsa-miR-4719	CLIP-seq
MIRT2482038	hsa-miR-4736	CLIP-seq
MIRT809333	hsa-miR-4748	CLIP-seq
MIRT809334	hsa-miR-4753-3p	CLIP-seq
MIRT1939115	hsa-miR-4772-3p	CLIP-seq
MIRT2482039	hsa-miR-4778-5p	CLIP-seq
MIRT2482040	hsa-miR-4786-5p	CLIP-seq
MIRT2482041	hsa-miR-4794	CLIP-seq
MIRT809335	hsa-miR-5096	CLIP-seq
MIRT2482042	hsa-miR-513b	CLIP-seq
MIRT2482043	hsa-miR-516a-3p	CLIP-seq
MIRT1939116	hsa-miR-518a-5p	CLIP-seq
MIRT809336	hsa-miR-519a	CLIP-seq
MIRT809337	hsa-miR-519b-3p	CLIP-seq
MIRT809338	hsa-miR-519c-3p	CLIP-seq
MIRT809339	hsa-miR-519d	CLIP-seq
MIRT1939117	hsa-miR-522	CLIP-seq
MIRT1939118	hsa-miR-527	CLIP-seq
MIRT1939119	hsa-miR-544	CLIP-seq
MIRT2482044	hsa-miR-548a-5p	CLIP-seq
MIRT2482045	hsa-miR-548ab	CLIP-seq
MIRT2482046	hsa-miR-548ac	CLIP-seq
MIRT2482047	hsa-miR-548ae	CLIP-seq
MIRT2482048	hsa-miR-548aj	CLIP-seq
MIRT2482049	hsa-miR-548ak	CLIP-seq
MIRT2482050	hsa-miR-548am	CLIP-seq
MIRT2482051	hsa-miR-548b-5p	CLIP-seq
MIRT2482052	hsa-miR-548c-5p	CLIP-seq
MIRT2482053	hsa-miR-548d-3p	CLIP-seq
MIRT2482054	hsa-miR-548d-5p	CLIP-seq
MIRT2482055	hsa-miR-548h	CLIP-seq
MIRT2482056	hsa-miR-548i	CLIP-seq
MIRT2482057	hsa-miR-548j	CLIP-seq
MIRT809340	hsa-miR-548t	CLIP-seq
MIRT2482058	hsa-miR-548w	CLIP-seq
MIRT2482059	hsa-miR-548x	CLIP-seq
MIRT2482060	hsa-miR-548y	CLIP-seq
MIRT2482061	hsa-miR-548z	CLIP-seq
MIRT2482062	hsa-miR-559	CLIP-seq
MIRT2482063	hsa-miR-561	CLIP-seq
MIRT2482064	hsa-miR-580	CLIP-seq
MIRT2178225	hsa-miR-589	CLIP-seq
MIRT2482065	hsa-miR-604	CLIP-seq
MIRT2482066	hsa-miR-612	CLIP-seq
MIRT2482067	hsa-miR-632	CLIP-seq
MIRT2482068	hsa-miR-647	CLIP-seq
MIRT809342	hsa-miR-649	CLIP-seq
MIRT2482069	hsa-miR-654-3p	CLIP-seq
MIRT809343	hsa-miR-657	CLIP-seq
MIRT2482070	hsa-miR-769-5p	CLIP-seq
MIRT809344	hsa-miR-873	CLIP-seq
MIRT809345	hsa-miR-93	CLIP-seq

43 Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	NAS	32001091
GO:0000221	Component	Vacuolar proton-transporting V-type ATPase, V1 domain	ISS
GO:0005515	Function	Protein binding	IPI	18752060, 21844891, 25416956, 32296183, 33961781, 35271311
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	NAS	32001091
GO:0005813	Component	Centrosome	IDA	21844891
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	NAS	32001091
GO:0005886	Component	Plasma membrane	TAS
GO:0005929	Component	Cilium	IDA	21844891
GO:0005929	Component	Cilium	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007035	Process	Vacuolar acidification	NAS	32001091
GO:0007042	Process	Lysosomal lumen acidification	NAS	32001091, 33065002
GO:0010008	Component	Endosome membrane	NAS	32001091
GO:0016020	Component	Membrane	IDA	18752060, 33065002
GO:0016020	Component	Membrane	IEA
GO:0016241	Process	Regulation of macroautophagy	NAS	22982048
GO:0030030	Process	Cell projection organization	IEA
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033176	Component	Proton-transporting V-type ATPase complex	IBA
GO:0033176	Component	Proton-transporting V-type ATPase complex	IDA	18752060
GO:0033176	Component	Proton-transporting V-type ATPase complex	IEA
GO:0033176	Component	Proton-transporting V-type ATPase complex	NAS	33065002
GO:0035579	Component	Specific granule membrane	TAS
GO:0042995	Component	Cell projection	IEA
GO:0046961	Function	Proton-transporting ATPase activity, rotational mechanism	IEA
GO:0048388	Process	Endosomal lumen acidification	NAS	32001091
GO:0051452	Process	Intracellular pH reduction	NAS	32001091
GO:0060271	Process	Cilium assembly	IMP	21844891
GO:0061512	Process	Protein localization to cilium	IMP	21844891
GO:0061795	Process	Golgi lumen acidification	NAS	32001091
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708
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	NAS	33065002

MIM	HGNC	e!Ensembl
609398	13527	ENSG00000100554

Q9Y5K8

Protein name

V-type proton ATPase subunit D (V-ATPase subunit D) (V-ATPase 28 kDa accessory protein) (Vacuolar proton pump subunit D)

Protein function

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:33065002). V-ATPase is responsibl

PDB

6WLZ , 6WM2 , 6WM3 , 6WM4 , 7U4T , 7UNF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01813	ATP-synt_D	15 → 207	ATP synthase subunit D	Family

Sequence

MSGKDRIEIFPSRMAQTIMKARLKGAQTGRNLLKKKSDALTLRFRQILKKIIETKMLMGE
VMREAAFSLAEAKFTAGDFSTTVIQNVNKAQVKIRAKKDNVAGVTLPVFEHYHEGTDSYE
LTGLARGGEQLAKLKRNYAKAVELLVELASLQTSFVTLDEAIKITNRRVNAIEHVIIPRI
ERTLAYIITELDEREREEFYRLKKIQEKKKILKEKSEKDLEQRRAAGEVLEPANLLAEEK
DEDLLFE

Sequence length

247

Interactions

View interactions

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

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)

Phenotype Name	Clinical Significance	Source	Reference	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.
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	40021385	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	25006744		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Names
ATP6V1G3	[]	13	["Oxidative phosphorylation","Phagosome","mTOR signaling pathway","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling","Amino acids regulate mTORC1"]	[]
ATP6V1C2	[]	13	["Oxidative phosphorylation","Phagosome","mTOR signaling pathway","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling","Amino acids regulate mTORC1"]	[]
ATP6V1A	[]	13	["Oxidative phosphorylation","Phagosome","mTOR signaling pathway","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling","Amino acids regulate mTORC1"]	[]
ATP6V1B1	[]	13	["Oxidative phosphorylation","Phagosome","mTOR signaling pathway","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling","Amino acids regulate mTORC1"]	[]
ATP6V1B2	[]	13	["Oxidative phosphorylation","Phagosome","mTOR signaling pathway","Synaptic vesicle cycle","Collecting duct acid secretion","Vibrio cholerae infection","Epithelial cell signaling in Helicobacter pylori infection","Rheumatoid arthritis","ROS and RNS production in phagocytes","Insulin receptor recycling","Transferrin endocytosis and recycling","Amino acids regulate mTORC1"]	[]

ATP6V1D (ATPase H+ transporting V1 subunit D)

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