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	537
Gene name	ATPase H+ transporting accessory protein 1
Gene symbol	ATP6AP1
Synonyms (NCBI Gene)	16AATP6IP1ATP6S1Ac45CF2VATPS1XAP-3XAP3
Chromosome	X
Chromosome location	Xq28
Summary	This gene encodes a component of a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Vacuolar ATPase (V-ATPase) is comprised of a cytosolic V1 (site of the ATP catalytic site) and a transmembrane V0 domain. V-ATPase d

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs148803059	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant
rs878853276	T>C	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1557196978	T>G	Pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant

206

Show/Hide all (206)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030317	hsa-miR-26b-5p	Microarray	19088304
MIRT051337	hsa-miR-15a-5p	CLASH	23622248
MIRT037865	hsa-miR-455-3p	CLASH	23622248
MIRT036538	hsa-miR-1226-5p	CLASH	23622248
MIRT689010	hsa-miR-6732-3p	HITS-CLIP	23313552
MIRT689009	hsa-miR-320e	HITS-CLIP	23313552
MIRT689008	hsa-miR-504-5p	HITS-CLIP	23313552
MIRT689007	hsa-miR-4690-3p	HITS-CLIP	23313552
MIRT689006	hsa-miR-5685	HITS-CLIP	23313552
MIRT689005	hsa-miR-4292	HITS-CLIP	23313552
MIRT689004	hsa-miR-6791-5p	HITS-CLIP	23313552
MIRT689003	hsa-miR-204-3p	HITS-CLIP	23313552
MIRT689002	hsa-miR-4646-5p	HITS-CLIP	23313552
MIRT689001	hsa-miR-1273f	HITS-CLIP	23313552
MIRT689000	hsa-miR-185-5p	HITS-CLIP	23313552
MIRT688999	hsa-miR-4306	HITS-CLIP	23313552
MIRT688998	hsa-miR-4644	HITS-CLIP	23313552
MIRT688997	hsa-miR-4747-5p	HITS-CLIP	23313552
MIRT688996	hsa-miR-5196-5p	HITS-CLIP	23313552
MIRT688995	hsa-miR-6878-5p	HITS-CLIP	23313552
MIRT688994	hsa-miR-6731-5p	HITS-CLIP	23313552
MIRT688993	hsa-miR-8085	HITS-CLIP	23313552
MIRT688992	hsa-miR-486-3p	HITS-CLIP	23313552
MIRT688991	hsa-miR-1237-5p	HITS-CLIP	23313552
MIRT688990	hsa-miR-4488	HITS-CLIP	23313552
MIRT688989	hsa-miR-4697-5p	HITS-CLIP	23313552
MIRT688988	hsa-miR-6846-5p	HITS-CLIP	23313552
MIRT688987	hsa-miR-6848-5p	HITS-CLIP	23313552
MIRT688986	hsa-miR-601	HITS-CLIP	23313552
MIRT688985	hsa-miR-92a-1-5p	HITS-CLIP	23313552
MIRT688984	hsa-miR-4425	HITS-CLIP	23313552
MIRT688983	hsa-miR-3147	HITS-CLIP	23313552
MIRT688982	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT688981	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT688980	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT688979	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT688978	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT688977	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT688976	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT688975	hsa-miR-3689c	HITS-CLIP	23313552
MIRT688974	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT688973	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT688972	hsa-miR-6843-3p	HITS-CLIP	23313552
MIRT688971	hsa-miR-6848-3p	HITS-CLIP	23313552
MIRT688970	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT688969	hsa-miR-4727-3p	HITS-CLIP	23313552
MIRT512890	hsa-miR-6165	PAR-CLIP	23446348
MIRT512889	hsa-miR-4436a	PAR-CLIP	23446348
MIRT512888	hsa-miR-5000-3p	PAR-CLIP	23446348
MIRT512887	hsa-miR-196b-3p	PAR-CLIP	23446348
MIRT512886	hsa-miR-1286	PAR-CLIP	23446348
MIRT441146	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441146	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT689010	hsa-miR-6732-3p	HITS-CLIP	23313552
MIRT689009	hsa-miR-320e	HITS-CLIP	23313552
MIRT689008	hsa-miR-504-5p	HITS-CLIP	23313552
MIRT689007	hsa-miR-4690-3p	HITS-CLIP	23313552
MIRT689006	hsa-miR-5685	HITS-CLIP	23313552
MIRT689005	hsa-miR-4292	HITS-CLIP	23313552
MIRT689004	hsa-miR-6791-5p	HITS-CLIP	23313552
MIRT689003	hsa-miR-204-3p	HITS-CLIP	23313552
MIRT689002	hsa-miR-4646-5p	HITS-CLIP	23313552
MIRT689001	hsa-miR-1273f	HITS-CLIP	23313552
MIRT689000	hsa-miR-185-5p	HITS-CLIP	23313552
MIRT688999	hsa-miR-4306	HITS-CLIP	23313552
MIRT688998	hsa-miR-4644	HITS-CLIP	23313552
MIRT688997	hsa-miR-4747-5p	HITS-CLIP	23313552
MIRT688996	hsa-miR-5196-5p	HITS-CLIP	23313552
MIRT688995	hsa-miR-6878-5p	HITS-CLIP	23313552
MIRT688994	hsa-miR-6731-5p	HITS-CLIP	23313552
MIRT688993	hsa-miR-8085	HITS-CLIP	23313552
MIRT688992	hsa-miR-486-3p	HITS-CLIP	23313552
MIRT688991	hsa-miR-1237-5p	HITS-CLIP	23313552
MIRT688990	hsa-miR-4488	HITS-CLIP	23313552
MIRT688989	hsa-miR-4697-5p	HITS-CLIP	23313552
MIRT688988	hsa-miR-6846-5p	HITS-CLIP	23313552
MIRT688987	hsa-miR-6848-5p	HITS-CLIP	23313552
MIRT688986	hsa-miR-601	HITS-CLIP	23313552
MIRT688985	hsa-miR-92a-1-5p	HITS-CLIP	23313552
MIRT688984	hsa-miR-4425	HITS-CLIP	23313552
MIRT688983	hsa-miR-3147	HITS-CLIP	23313552
MIRT688982	hsa-miR-30c-1-3p	HITS-CLIP	23313552
MIRT688981	hsa-miR-30c-2-3p	HITS-CLIP	23313552
MIRT688980	hsa-miR-6788-5p	HITS-CLIP	23313552
MIRT688979	hsa-miR-1273h-5p	HITS-CLIP	23313552
MIRT688978	hsa-miR-30b-3p	HITS-CLIP	23313552
MIRT688977	hsa-miR-3689a-3p	HITS-CLIP	23313552
MIRT688976	hsa-miR-3689b-3p	HITS-CLIP	23313552
MIRT688975	hsa-miR-3689c	HITS-CLIP	23313552
MIRT688974	hsa-miR-6779-5p	HITS-CLIP	23313552
MIRT688973	hsa-miR-6780a-5p	HITS-CLIP	23313552
MIRT688972	hsa-miR-6843-3p	HITS-CLIP	23313552
MIRT688971	hsa-miR-6848-3p	HITS-CLIP	23313552
MIRT688970	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT688969	hsa-miR-4727-3p	HITS-CLIP	23313552
MIRT512890	hsa-miR-6165	PAR-CLIP	23446348
MIRT512889	hsa-miR-4436a	PAR-CLIP	23446348
MIRT512888	hsa-miR-5000-3p	PAR-CLIP	23446348
MIRT512887	hsa-miR-196b-3p	PAR-CLIP	23446348
MIRT512886	hsa-miR-1286	PAR-CLIP	23446348
MIRT808429	hsa-miR-1226	CLIP-seq
MIRT808430	hsa-miR-1273	CLIP-seq
MIRT808431	hsa-miR-1471	CLIP-seq
MIRT808432	hsa-miR-221	CLIP-seq
MIRT808433	hsa-miR-222	CLIP-seq
MIRT808434	hsa-miR-3171	CLIP-seq
MIRT808435	hsa-miR-3173-3p	CLIP-seq
MIRT808436	hsa-miR-4428	CLIP-seq
MIRT808437	hsa-miR-4731-3p	CLIP-seq
MIRT808438	hsa-miR-4733-3p	CLIP-seq
MIRT808439	hsa-miR-4801	CLIP-seq
MIRT808440	hsa-miR-499-3p	CLIP-seq
MIRT808441	hsa-miR-499a-3p	CLIP-seq
MIRT808442	hsa-miR-548ad	CLIP-seq
MIRT808443	hsa-miR-548v	CLIP-seq
MIRT1938790	hsa-miR-1206	CLIP-seq
MIRT1938791	hsa-miR-1825	CLIP-seq
MIRT1938792	hsa-miR-185	CLIP-seq
MIRT1938793	hsa-miR-1910	CLIP-seq
MIRT1938794	hsa-miR-199a-5p	CLIP-seq
MIRT1938795	hsa-miR-199b-5p	CLIP-seq
MIRT1938796	hsa-miR-3184	CLIP-seq
MIRT1938797	hsa-miR-423-5p	CLIP-seq
MIRT1938798	hsa-miR-4300	CLIP-seq
MIRT1938799	hsa-miR-4327	CLIP-seq
MIRT1938800	hsa-miR-4476	CLIP-seq
MIRT1938801	hsa-miR-920	CLIP-seq
MIRT1938802	hsa-miR-939	CLIP-seq
MIRT808429	hsa-miR-1226	CLIP-seq
MIRT808438	hsa-miR-4733-3p	CLIP-seq
MIRT808440	hsa-miR-499-3p	CLIP-seq
MIRT808441	hsa-miR-499a-3p	CLIP-seq
MIRT808429	hsa-miR-1226	CLIP-seq
MIRT808438	hsa-miR-4733-3p	CLIP-seq
MIRT808440	hsa-miR-499-3p	CLIP-seq
MIRT808441	hsa-miR-499a-3p	CLIP-seq
MIRT2435585	hsa-miR-1233	CLIP-seq
MIRT2435586	hsa-miR-1266	CLIP-seq
MIRT2435587	hsa-miR-1278	CLIP-seq
MIRT2435588	hsa-miR-150	CLIP-seq
MIRT2435589	hsa-miR-3692	CLIP-seq
MIRT2435590	hsa-miR-4270	CLIP-seq
MIRT2435591	hsa-miR-4441	CLIP-seq
MIRT2435592	hsa-miR-4518	CLIP-seq
MIRT2435593	hsa-miR-510	CLIP-seq
MIRT2435594	hsa-miR-562	CLIP-seq
MIRT2481444	hsa-miR-1205	CLIP-seq
MIRT2481445	hsa-miR-1224-3p	CLIP-seq
MIRT2435585	hsa-miR-1233	CLIP-seq
MIRT2481446	hsa-miR-1260	CLIP-seq
MIRT2481447	hsa-miR-1260b	CLIP-seq
MIRT2435586	hsa-miR-1266	CLIP-seq
MIRT2435587	hsa-miR-1278	CLIP-seq
MIRT2481448	hsa-miR-1280	CLIP-seq
MIRT2435588	hsa-miR-150	CLIP-seq
MIRT2481449	hsa-miR-1909	CLIP-seq
MIRT808432	hsa-miR-221	CLIP-seq
MIRT808433	hsa-miR-222	CLIP-seq
MIRT2481450	hsa-miR-3153	CLIP-seq
MIRT808434	hsa-miR-3171	CLIP-seq
MIRT808435	hsa-miR-3173-3p	CLIP-seq
MIRT2435589	hsa-miR-3692	CLIP-seq
MIRT2435590	hsa-miR-4270	CLIP-seq
MIRT2481451	hsa-miR-4286	CLIP-seq
MIRT2481452	hsa-miR-4419a	CLIP-seq
MIRT808436	hsa-miR-4428	CLIP-seq
MIRT2435591	hsa-miR-4441	CLIP-seq
MIRT2481453	hsa-miR-4477b	CLIP-seq
MIRT2481454	hsa-miR-4510	CLIP-seq
MIRT2435592	hsa-miR-4518	CLIP-seq
MIRT2481455	hsa-miR-4668-5p	CLIP-seq
MIRT808437	hsa-miR-4731-3p	CLIP-seq
MIRT2481456	hsa-miR-4760-3p	CLIP-seq
MIRT2481457	hsa-miR-4779	CLIP-seq
MIRT808439	hsa-miR-4801	CLIP-seq
MIRT2435593	hsa-miR-510	CLIP-seq
MIRT808443	hsa-miR-548v	CLIP-seq
MIRT2435594	hsa-miR-562	CLIP-seq
MIRT2481445	hsa-miR-1224-3p	CLIP-seq
MIRT2435585	hsa-miR-1233	CLIP-seq
MIRT2481446	hsa-miR-1260	CLIP-seq
MIRT2481447	hsa-miR-1260b	CLIP-seq
MIRT2435586	hsa-miR-1266	CLIP-seq
MIRT2435587	hsa-miR-1278	CLIP-seq
MIRT2481448	hsa-miR-1280	CLIP-seq
MIRT2435588	hsa-miR-150	CLIP-seq
MIRT808432	hsa-miR-221	CLIP-seq
MIRT808433	hsa-miR-222	CLIP-seq
MIRT808434	hsa-miR-3171	CLIP-seq
MIRT808435	hsa-miR-3173-3p	CLIP-seq
MIRT2435589	hsa-miR-3692	CLIP-seq
MIRT2435590	hsa-miR-4270	CLIP-seq
MIRT2481451	hsa-miR-4286	CLIP-seq
MIRT2481452	hsa-miR-4419a	CLIP-seq
MIRT808436	hsa-miR-4428	CLIP-seq
MIRT2435591	hsa-miR-4441	CLIP-seq
MIRT2481453	hsa-miR-4477b	CLIP-seq
MIRT2481454	hsa-miR-4510	CLIP-seq
MIRT2435592	hsa-miR-4518	CLIP-seq
MIRT808437	hsa-miR-4731-3p	CLIP-seq
MIRT2481456	hsa-miR-4760-3p	CLIP-seq
MIRT2481457	hsa-miR-4779	CLIP-seq
MIRT808439	hsa-miR-4801	CLIP-seq
MIRT2435593	hsa-miR-510	CLIP-seq
MIRT808443	hsa-miR-548v	CLIP-seq
MIRT2435594	hsa-miR-562	CLIP-seq

Show/Hide all (44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	NAS	32001091
GO:0001671	Function	ATPase activator activity	IBA
GO:0001671	Function	ATPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	29127204, 32353859, 32814053, 33060197, 33845483, 34232536, 34997207
GO:0005765	Component	Lysosomal membrane	NAS	32001091
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	32001091
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006879	Process	Intracellular iron ion homeostasis	IMP	28296633
GO:0007035	Process	Vacuolar acidification	NAS	32001091
GO:0007042	Process	Lysosomal lumen acidification	NAS	32001091, 33065002
GO:0010008	Component	Endosome membrane	IEA
GO:0010008	Component	Endosome membrane	NAS	32001091
GO:0010008	Component	Endosome membrane	TAS
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IDA	33065002
GO:0016020	Component	Membrane	IEA
GO:0016469	Component	Proton-transporting two-sector ATPase complex	TAS	8733135
GO:0030641	Process	Regulation of cellular pH	IBA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030665	Component	Clathrin-coated vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033116	Component	Endoplasmic reticulum-Golgi intermediate compartment membrane	IEA
GO:0033176	Component	Proton-transporting V-type ATPase complex	IBA
GO:0033176	Component	Proton-transporting V-type ATPase complex	NAS	33065002
GO:0036035	Process	Osteoclast development	IEA
GO:0036035	Process	Osteoclast development	ISS
GO:0036295	Process	Cellular response to increased oxygen levels	IMP	28296633
GO:0045202	Component	Synapse	IEA
GO:0048388	Process	Endosomal lumen acidification	NAS	32001091
GO:0051452	Process	Intracellular pH reduction	NAS	32001091
GO:0061795	Process	Golgi lumen acidification	NAS	32001091
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0097401	Process	Synaptic vesicle lumen acidification	IEA
GO:0098588	Component	Bounding membrane of organelle	IEA
GO:0099638	Process	Endosome to plasma membrane protein transport	IEA
GO:0099638	Process	Endosome to plasma membrane protein transport	ISS
GO:0141109	Function	Transporter activator activity	IEA
GO:1902600	Process	Proton transmembrane transport	IEA
GO:1902600	Process	Proton transmembrane transport	NAS	33065002

MIM	HGNC	e!Ensembl
300197	868	ENSG00000071553

Q15904

Protein name

V-type proton ATPase subunit S1 (V-ATPase subunit S1) (Protein XAP-3) (V-ATPase Ac45 subunit) (V-ATPase S1 accessory protein) (Vacuolar proton pump subunit S1)

Protein function

Accessory subunit of the proton-transporting vacuolar (V)-ATPase protein pump, which is required for luminal acidification of secretory vesicles (PubMed:33065002). Guides the V-type ATPase into specialized subcellular compartments, such as neuro

PDB

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

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05827	ATP-synt_S1	321 → 468	Vacuolar ATP synthase subunit S1 (ATP6S1)	Family

Tissue specificity

TISSUE SPECIFICITY: widely expressed, with highest levels in brain and lowest in liver and duodenum. {ECO:0000269|PubMed:27231034}.

Sequence

MMAAMATARVRMGPRCAQALWRMPWLPVFLSLAAAAAAAAAEQQVPLVLWSSDRDLWAPA
ADTHEGHITSDLQLSTYLDPALELGPRNVLLFLQDKLSIEDFTAYGGVFGNKQDSAFSNL
ENALDLAPSSLVLPAVDWYAVSTLTTYLQEKLGASPLHVDLATLRELKLNASLPALLLIR
LPYTASSGLMAPREVLTGNDEVIGQVLSTLKSEDVPYTAALTAVRPSRVARDVAVVAGGL
GRQLLQKQPVSPVIHPPVSYNDTAPRILFWAQNFSVAYKDQWEDLTPLTFGVQELNLTGS
FWNDSFARLSLTYERLFGTTVTFKFILANRLYPVSARHWFTMERLEVHSNGSVAYFNASQ
VTGPSIYSFHCEYVSSLSKKGSLLVARTQPSPWQMMLQDFQIQAFNVMGEQFSYASDCAS
FFSPGIWMGLLTSLFMLFIFTYGLHMILSLKTMDRFDDHKGPTISLTQIV

Sequence length

470

Interactions

View interactions

	KEGG		Reactome
	Oxidative phosphorylation Metabolic pathways Lysosome Phagosome Vibrio cholerae infection Epithelial cell signaling in Helicobacter pylori infection Tuberculosis Hepatitis B Human papillomavirus infection Rheumatoid arthritis		Insulin receptor recycling Transferrin endocytosis and recycling 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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Immunodeficiency 47	Likely pathogenic; Pathogenic	rs2148221946, rs878853275, rs878853276, rs878853277, rs878853278, rs2523017845, rs2523016325, rs2523016265, rs2068680774, rs2068705545	RCV002248303 RCV000225137 RCV000225250 RCV000225332 RCV000225189 View all (5 more)	★★★★★ ★★★★★ 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.
ALG2-congenital disorder of glycosylation	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATP6AP1-related disorder	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION TYPE II	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased total lymphocyte count	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Decreased total neutrophil count	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LYMPHOMA, FOLLICULAR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (41)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agammaglobulinemia	Agammaglobulinemia	Pubtator	37108612	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	3186693, 34228637, 36077333	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	8593862	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34228637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36651831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	27231034	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32216104	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	BEFREE	28108845		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	32216104, 33407696, 35732497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	BEFREE	18157129		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	CLINVAR_DG	29396028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Renal Tubular Acidosis	Distal Renal Tubular Acidosis	BEFREE	14638902		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	36651831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	CLINVAR_DG	29396028		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35266851, 36552760	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	36651831, 37108612	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	35732497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	35732497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
IMMUNODEFICIENCY 47	Immunodeficiency	GENOMICS_ENGLAND_DG	27231034		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 47	Immunodeficiency	UNIPROT_DG	27231034		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 47	Immunodeficiency	CLINVAR_DG	29396028		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
IMMUNODEFICIENCY 47	Immunodeficiency	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leukopenia	Leukopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	32216104, 37108612	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	34791836, 35482846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	CTD_human_DG	26691987		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma, Follicular, Grade 1	Lymphoma	CTD_human_DG	26691987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular, Grade 2	Lymphoma	CTD_human_DG	26691987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular, Grade 3	Lymphoma	CTD_human_DG	26691987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	CTD_human_DG	26691987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Mixed-Cell, Follicular	Lymphoma	CTD_human_DG	26691987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma, Small Cleaved-Cell, Follicular	Lymphoma	CTD_human_DG	26691987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	11983866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11983866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	35732497	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	32216104, 35732497, 36651831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

ATP6AP1 (ATPase H+ transporting accessory protein 1)